Team Elizabeth Jeanne is Giving Back

Team Elizabeth Jeanne is Giving Back:

We are so grateful for every bit of generosity and kindness that has been sent our way.  Even before any of this happened, I have always believed that giving back and helping others is so important.  I want Celtan and Elizabeth to learn the importance of being kind, loving and generous people. So, I've been recently looking for ways to us to give back to causes that are important to us, that help support children with different medical and special needs, etc.  I will post any efforts we are helping with, in case any of our followers wish to help out, too.  

One Fight, One Family:

Next Sunday, September 20th, I will be joining many friends and family members on our "One Fight, One Family Team" in the "Walk to Break the Silence of Ovarian Cancer" at North Park.  Ovarian Cancer has touched my family many times.  It took my Great-Grandmother, Edna Schidemantle, from our family when I was very young.  My Aunt Susie Bly has fought and won the battle against it more than once.  A dear beloved, woman, family friend, and the mother of three guys I have known my whole life, Sandy Crawford, recently passed away from complications related to Ovarian Cancer.  Hank, Brett and Evan, your mother and the three of you, and your dad are very special to my family and I. We love you, and we loved her, and I am honored to be walking with the team that day.  We walk that day in her memory, and in honor of all of the brave women who have fought, regardless of the outcome, against Ovarian Cancer.  Please consider helping our team to reach our goal by clicking on the link below:

http://nocc.kintera.org/faf/search/searchTeamPart.asp?ievent=1130804&team=6446471

Capes 4 Heroes:

Team Elizabeth Jeanne is proud to be joining forces with the mom of another special superhero, Danya Hefferan, to support the amazing Capes 4 Heroes organization through the Corks & Capes Fundraiser!!! Please consider attending the event. There will be great food, lots of surprises and many prizes, baskets, raffles, etc. You can purchase your tickets on the link below!!! Thank you in advance for your support of this amazing organization.

Capes 4 Heroes makes individualized, handmade, superhero capes for children with special and medical needs who fight battles every day. They help to support our true superheroes. Elizabeth was officially caped this past May. She has been featured on their website and Facebook page. We are truly honored to be supporters and recipients of Capes 4 Heroes! Team Elizabeth Jeanne is always looking for ways to give back, and this is such a worthy cause!!

This is the link to buy tickets to support the Capes 4 Heroes Corks and Capes Fundraiser.  
https://www.smore.com/e5dge-corks-capes

You can also check out the Capes 4 Heroes website, and maybe even sponsor a cape for a child, or just read more about the organization to spread awareness.  They really do mean so much for families who have a special superhero like our Elizabeth.  

 http://capes4heroes.com/

Supporting the Children's Miracle Network:

 So, you all know that sweet Elizabeth and I deal with a lot of doctors and have quite a few stays at Children's Hospital of Pittsburgh. You may be aware that CHP is part of the Children's Miracle Network. You may not know that the Miss America pageant contestants raise money and awareness as part of their reign and participation in the pageants from the local to state to the big stage in Atlantic City. We are so grateful to CHP for more reasons than I can list, and we are so grateful to anyone who makes efforts to donate or raise money for the Children's Miracle Network. This money helps support programs and treatments and all kinds of other wonderful things for our miracle and for miracles like her. Our dear friends, Arlene J. Roth and Samantha Roth, are helping our very own Miss Pennsylvania walk and raise money for the Children's Miracle Network as part of her fundraising, reign and participation in the Miss America pageant. Please consider donating to this very worthy cause. You can donate or read more by clicking on the link below. Thank you to all of the contestants for helping to raise money and awareness to a cause that is so precious to us.

 http://www.helpmakemiracles.org/index.cfm?fuseaction=donorDrive.participant&participantID=326885

Updates from August

Updates from August:

Where did this summer go?  If I wasn't in or at the hospital with Elizabeth, then I was making sure that Celtan had a lot of fun!!  It was time well spent, and we had a great summer.  I'm hoping that all of you had a great summer, too.  

August was a busy month for Elizabeth.  I feel like I could say that for pretty much every month, though.  Here are some updates with our sweet girl regarding answers, tests, and things that she went through in August.  I am hoping now that school is in, and as the weather turns, that I'll have more time to post more frequently.  I do appreciate everyone who follows, prays, supports and loves Elizabeth and us on her journey.

Immunology:

We met with Dr. Larkin in the beginning of August.  Dr. Larkin is Elizabeth's Immunologist.  We discussed her diagnosis that the genetic testing revealed in July, which explains many of her immunological issues.  Of course, Elizabeth has a lesser known mutation for the Nijmegen Breakage Syndrome, which makes the phenotype (or set of presenting features/ symptoms) a little bit different than is typical for the more commonly known genetic mutation causing the disorder. While Elizabeth does not meet all of the criteria for the traditional phenotype, she does meet every criteria for the phenotype of the RAD50 mutation, which she has that caused the Nijmegen Breakage Syndrome.  Just to be sure, because a lot of what comes with this syndrome is scary, we sent another blood test in July to UCLA.  This test is called a "Radioactive Assay" test, and it will basically give us absolute confirmation as to whether she truly has the syndrome. This is important, because it impacts what we need to watch for and how we can treat her symptoms.  This syndrome causes rapid cell death, makes you more likely to develop a slew of cancers, significantly impacts the proper functioning of the immune system, and causes many other medical and developmental issues.  We are still waiting for the results to return from UCLA. 

Dr. Larkin also retested Elizabeth's Immunoglobulin levels, because she is also seeing her for an IgA deficiency, which we discovered last fall. We will have Elizabeth's levels tracked every six months, just to keep a close eye on her immune system, and how well it is functioning.  Dr. Larkin also tested her titer levels for various immunizations that Elizabeth has received to determine her level of immunity to those specific things. The results showed that her IgA is still deficient, and that now her IgG is dropping as well.  This means that two of her three immunoglobulins that regulate and maintain her immune system are now deficient.  We will continue to watch her levels, and we are currently discussing other ways to treat her to help her immune system function more efficiently.  The blood work to test her immunity to things she has been vaccinated against showed that she has little or no immunity to many things that she has been vaccinated for, so we are going to be going down next week (Sept 16th) to give her booster vaccinations.  This is important, because with her already poorly functioning immune system, and the fact that she has little or no immunity to certain diseases despite being vaccinated, the boosters will help to boost her immunity to those things, which will (hopefully) lessen the chances that she contracts those diseases when exposed to them.  With her poorly functioning immune system, and her weak muscles and weak cough, things like a common cold can be deadly for her.  She can't fight things off, and she can't effectively cough out spit or mucous, and she is prone to choke even on her own saliva.  So, I think you get the picture that we need to take every precaution to keep her healthy.  This is why, right inside of my door, there is a basket with all kinds of disinfecting products.  I am always spraying things down, wiping things off, making people sanitize their hands.  You can never be too careful with germs around a medically complex child like Elizabeth, even if it seems completely crazy to someone who has never been in this type of situation.  

Neurology:

We had our final appointment with our beloved Dr. Goldstein at the beginning of August.  She has been so influential in getting the ball rolling on helping us find answers for Elizabeth.  However, now that we know that Elizabeth has a neuromuscular disease, and not a mitochondrial disease, we really need to see Dr. Hamid instead.  We are still waiting for the mitochondrial testing that was sent with her genetic testing, but Dr. Goldstein feels the probability of finding anything on that testing is very low.  We spent this visit just chatting, and I repeatedly thanked her. She held Elizabeth, and we all hugged. It is always sad when you transition to another doctor and away from one that you love so much!  I can tell that we will also love Dr. Hamid, but Dr. Goldstein will always have a special place in our hearts.  Dr. Goldstein wants to bring Elizabeth in for a rare disease panel so that we can introduce her case, etc. and let a team of providers meet her and discuss things related to her case.  I do love a good "meeting of the minds," so of course I agreed.  We are working on setting that up.  Dr. Goldstein will be kept in the loop, but we have officially transitioned over to the care of Dr. Hamid, because she is the neuromuscular expert at Children's in Pittsburgh.  It is important that we see her, and you can read the July updates for more information why this is the case, especially because of the extreme rarity of Elizabeth's mutation and neuromuscular disorder (Congenital Myasthenic Syndrome due to a mutation of the AGRN gene).

We also had an EMG, which is a test to measure nerve and muscle functioning.  Dr. Hamid ordered this test, so that we could determine Elizabeth's baseline nerve and muscle functioning prior to starting treatment for her CMS.  There is no cure for CMS, but there are medicines that we can give her that may help to make her stronger. Also, the EMG was done to further confirm the CMS diagnosis.  The test was miserable to watch her go through.  She screamed and cried and had to be held down.  The test was productive, though, because it confirmed CMS due to the weakness in her trunk, arms, neck and face, which are all common in CMS.  Dr. Hamid said that she is glad that things fell in line the way they did with Elizabeth, and that we already had the genetic testing done showing the mutation for CMS, because had she done the EMG and gotten the results that she did that day that she would have asked for genetic testing to be done to confirm the CMS.  Since we already have the genetic confirmation, and now we have the EMG confirmation, it is official that she has a very rare form of CMS. Dr. Hamid also commented that she has such extreme nerve and muscle weakness in her throat that she may never be able to eat by mouth.  Also, the nerve and muscle weakness in her trunk is responsible for the negative impacts on her respiratory function.  So, hopefully, we can find a medicine that will help to make her stronger. 

Diagnostic Referral (DRG):

Our previous DRG physician, Dr. Amanda Brown, is currently working in another division, so we needed to switch to another DRG physician.  DRG is amazing when it comes to coordinating and communicating between multiple departments.  They will be even more helpful to us now that we finally have a name for what is going on with Elizabeth.  We have been transferred to the care of Dr. Basil Zitelli in DRG.  He has pretty much written the book on pediatrics. No, seriously, he has published SEVERAL important texts in the cannon of pediatric medical literature.  He has a lot of experience and knowledge, and we are so excited that he will be seeing Elizabeth.  We had an appointment with him, and he is totally amazing.  So, we are welcoming another amazing provider to our team. 

Hematology:

In the past few months, we have been noticing a trend in Elizabeth's red blood cell counts that warranted a trip back to Hematology to see Dr. Cooper. Her red blood cell counts have been becoming increasingly elevated, and her red blood cell counts are large in size and keep getting larger. Dr. Cooper reviewed the counts over the past few months, and looked at the size of her red blood cells under the microscope.  He feels that she has a type of anemia that is caused by her red blood cells being too large, and it is called "macrocytic anemia."  This is most commonly treated with B12 injections, so he decided to run some blood work to test her her B12 levels. Well, in true Elizabeth fashion, it won't be that simple, because the testing showed that her B12 levels are extremely high.  We can't treat her with B12, because she already has too much of it in her system.  Currently, her team are exploring reasons why her B12 is so high, but right now we do not have an answer.  However, in discussions with her team, and thinking of her recent increase in respiratory issues, the team believes that her climbing red blood cell counts are due to the fact that she is not getting enough oxygen in her blood due to poor and worsening respiratory function, which is caused by her CMS. We are keeping an eye on the red blood cell counts and her oxygen levels.  They ordered a pulse oximeter for us to use at home to monitor her pulse oxygen levels while she sleeps and to spot check her throughout the day when she seems to be in distress. She sometimes requires oxygen, because her pulse oxygen levels get into the mid to low 80s, and so we have oxygen on hand here at the house to help her. 

Hospital Stays and ER visits:

We have also had a few ER visits and brief hospital stays in August. Most have centered around issues with her feeding tube, but we also have been there due to issues with her breathing. Fortunately, we haven't had to stay long when we have been admitted this month!

In Mid-August, her feeding tube was pulled out.  This is an automatic trip to the ER.  Because her feeding tube is a G/J, which extends into her small intestine, and because for some unknown reason I do not have x-ray vision, I can't put the tube back in myself, so to the ER we go.  After much confusion, and a messy situation caused by her tube coming completely out, we were finally able to get a new tube put in.  We were able to go home that day, which was great.  However, we were back in the ER the very next day, because she was bleeding around her tube site pretty badly, and she was also running a fever.  We got the bleeding to stop, and the doctor's felt that the bleeding was due to a vessel being it when the new tube was put in.  However, the fever persisted.  They ran a series of tests, but everything checked out, and the fever seemed to be the result of a virus.  They let us go home, which is always good. Elizabeth ran a fever for the next few days in the stifling August heat.  Then, she seemed much better. 

Less than a week later, we were back in the ER.  Our night nurse woke us up in the middle of the night to tell us that Elizabeth's tube was coming out.  We taped it down, and Jason helped me pack her in the car.  He stayed home with Celtan, and Elizabeth and I went to the ER.  By the time we got there the tube was completely out.  They admitted us, because the team that puts the feeding tubes in would not be there for a few more hours.  Plus, her stoma where the feeding tube goes into her stomach was starting to close, and so they figured she would require a little more attention than just simply putting a tube back in.  We went to the 8th floor, and while we waited the DRG team rounded and discussed Elizabeth's case.  They noticed that she was having some respiratory issues, and they called Neurology in for a consult.  We felt that now was a good of a time as any to get her started on a medication to help improve her strength, which should improve her respiratory function. They wanted to keep us overnight, give her a medication, and watch to see how she would react.  If she had no adverse reactions, then we could go home the next day.  About an hour later, I was changing her diaper, and the catheter that they put in her stoma to keep it open had come completely out, and to make matters worse, her stoma looked as if it were almost completely closed.  I quickly called the nurse, and the stoma had closed significantly, and so the nurses called down to the Interventional Radiology department to let them know.  The conclusion was that she would require general anesthesia, because they would have to dilate her stoma to try to get a new feeding tube in.  They were able to dilate the stoma, as opposed to creating a new one, and they were able to get a new feeding tube in.  However, she aspirated when they extubated her after surgery, and she had to be suctioned.  She was very sleepy the rest of the evening. The fact that she aspirated was very scary to me.  She has aspirated before while feeding, vomiting, and on her own saliva, but she has not yet aspirated while being extubated from surgery. Since last August, Elizabeth has been put under general anesthesia 10 different times.  Every time, there is always a risk that this will happen. 

The doctors decided not to start the medicine until the next morning in order to let the effects of the anesthesia wear off.  So, they did that.  She did not have any adverse side effects after a few hours, and so they let us come home.  The medicine that they started her on was pseudoephedrine, which you probably know as Sudafed.  I know, right?? You're probably thinking.. Sudafed??  When taken long term, Sudafed has been known to increase muscle function in patients with CMS.  This is obviously true for people with more common mutations of the disease. Elizabeth's mutation being so rare, we are unsure that any of the medicines will work for her, but we felt we needed to try something.  Sudafed is one of the few drug options we have that has the least amount of side effects, so we decided to start with that.  The neurologists said that it will take months to see any positive effects of the medication. 

Our last stay in the hospital was just last weekend. Last Thursday night, her night nurse reported that she had several pulse ox alarms, but that she was always able to move her around and get her pulse oxygen back up. Each episode was associated with some kind of gasping or snorting breath. Then, during her nap on Friday after PT, her pulse ox dropped to 81, and she was blue around her lips, and she scared the crap out of me.  I was able to get her pulse ox back up, and her color returned to normal, but she was really pale.  I had already called her doctor in the morning, but I had not heard back from them.  I loaded Celtan and Elizabeth in the car, and we headed to the ER, and made record time.  Celtan was so very good.  I was really proud of him.  They admitted us from the ER to watch her pulse ox levels.  We were there overnight and were able to come home on Saturday.  The doctors believe that she is developing Sleep Apnea, which is a common issue among people who have CMS, so they have ordered a sleep study.  We also have more detailed instructions now on when and how much oxygen to give her, etc.  The other result is that we have pulled her from the Sudafed. It was lowering her heart rate, which is also impacting her already poor respiratory function, and we have pulled her from it to see if she improves at all without taking it.  If it truly is the Sudafed that is making her respiratory function worse, then that's one less drug available to us to help make her stronger. We will keep searing for the answer and keeping hoping that we find something that works.  

A few final thoughts:

Our lives are a far cry from what they were last year.  Thank you to everyone who asks about Elizabeth, asks about how I am and how we are.  Thank you for following Elizabeth's journey, and for all of the prayers love and support.  I am working on a piece about the emotional side of all of this, but my writing is like a precious creation to me, and I'm not ready to release it.  I am, however, being prompted to finish and publish it, because there is another blog that would like to feature that piece on their blog.  That is pretty exciting for me, and I'm honored, truly honored.  

We should be getting our handicap parking sticker in the mail any day now for Elizabeth.  The doctors insisted that it was time that I allow them to apply for a sticker for Elizabeth for the van. Especially with the amount of equipment that I have to drag with me when we go to the hospital and to appointments, and well really anywhere that we go. She also was just fitted for new leg braces to help support her when she is standing.  We are also trying to get in with a CMS specialist at the Mayo Clinic in Rochester, MN. 

I am staying at home and did not return to teach this year.  I am very grateful that the KC School Board allowed me to have this opportunity to stay home.  I am currently on unpaid leave, and we are down an entire salary, but there is no doubt in my mind that this was the right thing to do.  We never know what any day will bring our way, and so it helps that I am home and that I can deal with whatever that day brings without having to worry about work.  Thank you to everyone who prays, sends love, sends us gifts and surprises, who bring us food, who bring us clothes for the kids, and for all of the many other wonderful and generous things that have been sent our way. It means more to us that you can possible imagine. We are eternally grateful.

September is shaping up to be a busy month.  We continue to hope.  We continue to push forward.  We continue to be inspired by Elizabeth, and by all of you. Thank you for being a part of Team Elizabeth Jeanne!

Several Updates From July

Several Updates From July

We have had several appointments in July.  In fact, we have pretty much an appointment or test per week for the next several months.  I like to try to update after each appointment, but sometimes it is wishful thinking with everything else that we have going on!  I am going to be creating a Facebook page for Elizabeth since we officially have a diagnosis.  I will post quick updates there, and then continue to post more detailed information here on the blog.  Here is a list of updates by department for the last half of July:  

Genetics:

We had our long awaited meeting with Genetics about the results of Elizabeth's exome sequencing to look at her DNA for mutations that could explain her many symptoms. We had known for three weeks that the results were in, but it took a while to get an appointment to go over them.  They would not discuss the results by phone. The results finally gave us some answers and diagnoses for Elizabeth. We knew at this point that whatever they found would be rare, but we had no idea how rare.  Neither Jason nor I slept much the night before as we waiting in anticipation for the meeting with Genetics.  We were able to go to the appointment together, and we are thankful that our Pastor Joe and his wife, Carol, were able to watch the kids for us, so we could go and be given the news together.

The first significant finding was that Elizabeth carries a rare copy of a genetic mutation for the AGRN gene for a diagnosis called Congenital Myasthenic Syndrome (CMS).  CMS is a neuromuscular disorder that can cause issues with communication with nerves, muscles or both nerves and muscles.  Elizabeth's form is called CMS with pre and post synaptic defects, which means that hers causes problems with both the nerves and the muscles. Her form of CMS is extremely rare, and she is the 8th confirmed case in the world with her specific genetic mutation of the AGRN gene causing CMS.  There are approximately 7 billion people in the world, which makes her a one in a billion princess.  There are other forms of CMS, some more rare than others.  I'll discuss more information on the prognosis, medications, treatment options, etc. in the update for neurology.

Here is a link with some more information about CMS. It is pretty general information, not necessarily descriptive of all of the issues with Elizabeth's type of CMS, but you can get an idea of more detailed info if you care to read more:

http://www.mda.org/disease/congenital-myasthenic-syndromes/overview

The second diagnosis is called Nijmegen Breakage Syndrome.  Elizabeth has a mutation of the RAD50 gene, which causes a different form than is typical of Nijmegen Breakage Syndrome (NBS).  NBS causes an increased likelihood of cancer, developmental delays, immune deficiency, frequent infections, skin issues, failure to thrive, vision issues, and gross motor delays. Since there is typically another type of genetic mutation involved with NBS, a Radioactive Assay test was sent to a lab at UCLA for further investigation into Elizabeth's form of NBS.  We have an appointment with Immunology on August 5th, and will be discussing this portion of the diagnosis in more detail at that time.  

There is no cure for either of the diagnosis, however there are treatments that will help to target symptoms.  We have been told, though, that some treatments for the CMS will interact and cause complications with treatment for the NBS, and vice versa.  So, we may have to determine which symptom is the most significant to treat at the time in order to avoid adverse interactions.  Also, because these two diagnosis are so rare, we will often be making decisions about including her in research and clinical trials for medications and treatments not approved by the FDA in order to find treatments and medicines to help Elizabeth, to stop progression and to keep her stable.  Those are bridges we will cross, conversations we will have, when those situations arise.  We are glad to finally have diagnoses, but it is a lot to take in and process for us.  

Pulmonology

 Elizabeth had a follow up appointment in Pulmonology with Dr. Forno a few days after the genetics appointment.  The follow up appointment went well.  We are seeing less coughing now that she is no longer taking anything in by mouth.  This tells us that many of her respiratory issues were caused by her aspirating during feeds.  She is experiencing more stridor and wheezing when she breathes, and she has been taking some gasping breaths intermittently, this is likely due to the CMS causing issues with her respiratory function.  So, we are going to keep an eye on that.  We will likely be doing a sleep study in the near future to make sure that she doesn't need CPAP at night.  As of right now, we are going to continue her inhaler and breathing treatment regimen, because she is showing continued respiratory progress and stability.  We will follow up in six months, but that is likely to change with the increase in wheezing, stridor and the fact that we now know that her CMS can greatly impact respiratory function.  All of this means that she will likely need to be followed more closely by Dr. Forno from a pulmonology standpoint. 

Dermatology

Elizabeth had a follow up with Dermatology two weeks ago.  The appointment was to check the status of her rash on her cheeks, to determine if the cream was working, and to discuss her sunlight sensitivity further. Her rash on her cheeks is improving, so we will continue with the cream that we have been using to treat it.  The NBS diagnosis does cause issues with the skin, so we will keep an eye out for any newly developing rashes, etc. on her skin.  Elizabeth is still experiencing a lot of sun sensitivity, so they gave us some samples of different sunscreen to try for her. We will continue to watch her skin, symptoms and will be following up with Dermatology as needed or in six months. 

Dentist

Elizabeth also had her very first dentist appointment also two weeks ago.  We went to Dr. Kobil in Butler, and it was great to see Janet Peter's friendly face there, as well.  They were great with Elizabeth.  She was very uncooperative with letting them look in her mouth, but they were eventually able to get a look and count her teeth.  We brush her teeth with a little bit of water every day, since she can't have anything by mouth, we do not use toothpaste in case she would swallow it.  Since her teeth looked very clean, we will just continue to do that.  She may require some dental work simply because of her cleft palate, and if so, they will refer her to the dentists at CHP for treatment due to her complex medical issues.  We will continue to follow up with Dr. Kobil every six months in the meantime. 

GI

Last week, we had two appointments on the same day: GI and the long awaited Neurology appointment to discuss Elizabeth's CMS diagnosis.  The GI appointment was spent discussing Elizabeth's continuous 24 hours-a-day feeds, her recent need for gut rest, and the leaking around her tube that has recently started to occur.  Elizabeth is completely fed into her intestine through a J-tube, and recently she has been having episodes of formula leaking around the G/J tube site, hiccups, spitting up, and green output from her G-Tube site. She was recently put on "gut rest" last week, which involved putting her on straight Pedialyte instead of Pediasure, then transitioning her to a 50/50 combination of Pedialyte and Pediasure, all while continuously venting her G-tube site to get rid of gases, drainage, etc.  This gut rest went on for about 72 hours, then her symptoms subsided, and we returned her to full feeds of Pediasure.  

Elizabeth is continuing to gain weight.  She has gained almost 4 pounds since we were discharged from the hospital in June, which is great.  She is getting chubby cheeks, and chubby thighs, has a lot more energy, and we are seeing improvements in her language, movement and cognitive skills. It is truly amazing what adequate nutrition can do, and she is finally thriving.  We are continuing her cocktail of GI meds, because they are working to keep her reflux controlled.

The GI doctor was concerned about her tube being misplaced, and so they made arrangements to send us up to Interventional Radiology (IR) to have her tube checked out.  So, we went up to IR and they examined her tube.  They determined that her tube was in place and was functioning properly.  They suggested that since her rate is as slow as it can be for a 24 hour feed, that she likely has motility issues, and we should keep an eye on additional leaking around the tube site.  I did let GI know, and they sent a message to GI as well, but I'm still waiting to hear about their plan. I am going to call again today to check in with them.  We are following up with GI in two months.  It was quite an eventful morning, as I was not expecting to be sent up to IR, but I was glad to get her tube all checked out while we were there. 

Neurology

After our GI appointment, we had some time to kill.  Elizabeth took a nap in her stroller, and I reviewed my notes, read a book and ate some food while we waiting for our second appointment.  The last appointment that day was a long awaited appointment with the lead Neuromuscular disease doctor at CHP, Dr. Abdel-Hamid.  It was recommended that we schedule an appointment with her once the genetic results came back.  She is a leading expert of neuromuscular disease.  In fact, she only sees patients that have neuromuscular diseases.  I was looking forward to the appointment to gain some more info on how the CMS was going to continue to progress with Elizabeth, what kinds of treatment options there were, what to expect, what comes next, who else can we see, etc.?  I had three pages of questions before I went into the appointment.  

Dr. Abdel-Hamid was amazing.  She will be following Elizabeth in the Neurology department now.  She answered all of my questions, and many more that came up during the appointment.  CMS is a progressive neuromuscular disease, and the earlier the onset the poorer the prognosis, and with Elizabeth's rare genetic mutation, and the fact that her type causes issues with both nerves and muscles, it is like a quadruple threat to her well being.   She recommended that we get Elizabeth registered with the Muscular Dystrophy Association, because although CMS is not Muscular Dystrophy, CMS research and clinical trials are managed within the MDA.  She also recommended that we take Elizabeth to the Mayo Clinic in Minnesota to see Dr. Engel who is a CMS expert.  He has seen the other few cases with her genetic mutation, and he has seen and treated many others with CMS.  Her secretary are helping me to register Elizabeth with the MDA and to get her an appointment with Dr. Engel. It is important to register Elizabeth to the MDA, so that she can benefit from being a part of the organization, can be informed of programs and research and clinical trials that apply to her diagnosis, etc.  It is important that she get into see Dr. Engel for many of the same reasons.  Elizabeth is the only case of CMS that Dr. Abdel-Hamid has ever seen with her specific genetic mutation.  However, she has treated other children with other forms of CMS.  Dr. Abdel-Hamid also mentioned that we would likely be contacted by other physicians, etc. now that Elizabeth is the 8th confirmed case of her condition.  There will be researchers and physicians who want to include her case in research to learn more about this rare disease and genetic mutation. 

We also learned at the appointment about different treatment options for symptoms.  Again, there is no cure.  There is not a medicine that she can take, or a treatment that can be given, that will magically change the mutation in the gene, and rid her of this neuromuscular disease.  There are drug treatment options to help control symptoms, slow progression, and even potentially make her stronger in some ways.  For example, one of the primary symptoms of CMS is that the symptoms are worsened by physical activity.  So, the harder Elizabeth works, the more active she is, the more fatigued and tired her body becomes, which is exactly what we have seen and been describing to doctors all along. Some of the medicines, if they work for her, will help to reduce the fatigue brought on by activity. I mention, "if they work for her," because there are only a few medicines, and they are all known to be somewhat effective with the other more common forms of CMS.  Also, since she is so young, she will be taking medicines for longer periods of time, and with that you have to worry about building tolerance, which makes the drug either less effective or can make it ineffective all together.  Also, there are only a few drugs, and some of them are not approved by the FDA, and so are part of clinical research trials.  Also, some of the medicines have nasty side effects, for example, the one drug is known to make you stop breathing as a side effect, and so they will not start you on that medicine unless you are admitted as an inpatient to monitor your reaction.  So, we will have lots of conversations about medicines, weighing in the pros and cons, hoping that we find something that works for Elizabeth.  One final barrier to the treatment options is that it needs to be in liquid form.  At least one of the medicines is not available in liquid form, and this of course, is the first treatment option with the least amount of side effects.  

We are hopeful that we will find a medicine that will slow the progression.  We are also hopeful that this journey has led us to Dr. Abdel-Hamid.  She is going to continue to follow Elizabeth as part of the Muscular Dystrophy Clinic at CHP.  Elizabeth will no longer need to be seen in the Cerebal Palsy Clinic, because she does not have Cerebal Palsy, which is confirmed by the recent genetic results.  We are also having muscle biopsies and nerve conduction studies done on Elizabeth on Friday, August 7th at CHP by Dr. Abdel-Hamid to get a baseline on how well her nerves and muscles are function, so that way we are better able to track progression of the disease.  We will be following up with Dr. Abdel-Hamid every two months.  

After the appointment, I joined a CMS support group, and I have actually located two other individuals with Elizabeth's specific mutation.  Once is a 5 year old in Prague, and the other is a woman who lives in New Hampshire.  I am so glad that I found the group, because already they have been a wealth of information, hope and support.

The Team Elizabeth Jeanne Lemonade Stand

The Team Elizabeth Jeanne Lemonade Stand

Time and time again, we have been totally overwhelmed by the support of our community.  At the benefit, we received a note and bag of money from a lemonade stand that two young, local girls (Chloe Fritch and Olivia Rumbaugh) had earned as proceeds from their lemonade sales.  They wanted to donate it to Elizabeth.  We were very deeply touched by their generosity, especially at such a young age. They come from very generous and caring families, so it is no surprise that their children are just as kind and generous, but we were still very touched by the act of kindness and generosity. 

A few weeks ago, these young ladies, and a few of their friends and family members, hosted another lemonade stand for Elizabeth.  We were on our way to spend the day with our friends at their cottage along Lake Erie, when I started receiving Facebook notifications of this group of kids making signs and advertising that they were hosting a lemonade stand for Elizabeth that day.  I immediately started crying.  I could not believe that this sweet, kind group of local kids were taking time out of their summer day to host another lemonade stand for Elizabeth.  

Apparently, it was quite the success!!  We cannot thank these kids, their families, and the community for their support of the lemonade stand.  It means so much to us.  I know that the parents of these kids are proud of them, but we are so proud of their kindness, generosity and compassion for others that they are displaying at such a young age.  We are proud and honored to know them, and they are proof positive that there is so much good in the world.  Thank you again to everyone who helped to put the lemonade stand together, and to everyone who stopped by to show their support that day.  It means so much to us!!

Here are some pictures of the lemonade stand for Team Elizabeth Jeanne:

We LOVE Early Intervention

We LOVE Early Intervention

We have been so blessed with the team of doctors, support of family and friends, an amazing community, and an incredible Early Intervention team.  I often think back to when Elizabeth was only a few months old, and we started receiving Early Intervention services for her.  We began with one hour of PT a week, and we continued to build our team as we noticed more and more delays and needs that Elizabeth was displaying.  Honestly, I was initially hesitant to start Early Intervention services.  I really believed that eventually she would catch up.  It became clear that she was not catching up as we had hoped, and I'm so grateful that we started Early Intervention so early for her.  

We currently have a full team, and it will remain that way.  Elizabeth can receive Early Intervention services until she turns three next May.  Right now, we have 2 hours of Vision Therapy, 2 hours of PT, 2 hours of OT, 2 hours of Speech, 1 hour of Developmental Therapy, and 1 Nutrition appointment a week.  We also have an amazing caseworker that helps to manage everything.  Our Early Intervention team is incredible.  They are an amazing group of women, and we love them all.  One thing is for sure, Elizabeth has made so much progress since we began Early Intervention when she was 4 months old, and it is a testament to the wonderful team of therapists that we have through Early Intervention.  I will never be able to thank them enough for everything that they have done for our sweet Elizabeth and our family.  

Early Intervention is a FREE service for children from birth to age three who have developmental delays, and the evaluation is free even if your child ends up not qualifying.  We don't pay a single cent for any of the services.  We would not be able to afford the cost of this therapy that our Elizabeth so desperately needs, and we are so grateful for this free program that has allowed us to see progress and has given us so much hope. 

We LOVE Early Intervention, and our team.  They have spent hours designing communication and visual activities for Elizabeth, collaborating with each other to work together to design interventions to best suit her needs, and going above and beyond to help Elizabeth reach milestones and make progress.  They have been there to listen and have been so supportive as answers are coming in and we continue to process what this all means for Elizabeth and her future.  They are like family to us, and we are so grateful to have them in our lives.  So, to each and every one on our team, we love you.  Thank you for all that you have done for Elizabeth and for us.

Dr. Nischal's Insight on Elizabeth's Eyesight

Dr. Nischal's Insight on Elizabeth's Eyesight

From the beginning of this journey with Elizabeth, I have always taken notes and done my research on both the doctors that are seeing her and the information we discuss at her appointment.  I feel like it is my duty to be well informed, to be knowledgeable about what we are talking about in regards to Elizabeth, to understand how the doctors that are on our team have done research or have a unique understanding of Elizabeth's unique set of issues, etc.  When we were first referred to Dr. Nischal by Dr. Pav, I began doing research on his career.  I came to realize that he would truly be an excellent fit for our team, because of his extensive background in Genetic Ophthalmology. I was told that he "wrote the book," and after reviewing some of his research, I could tell that he would be able to give us the answers that we were looking for regarding Elizabeth's vision.  I just had no idea how much he would be able to tell us.  I'm so glad that we were able to get an appointment with Dr. Nischal.  As the Chief of the Pediatric Ophthalmology Division at CHP, he doesn't see many patients, which is common for most department heads in medicine.  Our Diagnostic Referral doctors jokingly said that when you make it to a department head as a patient that you're really something special.  These leading doctors often take very few patients, and only those cases who are of a special interest, or who present a case that they feel is worthy of their time and attention considering all of their other obligations aside from seeing patients.  I also feel a bit of regret for not getting her into see him sooner, especially with all of the information that we learned at the appointment.  Maybe we would be further ahead had we seen him months ago?  Maybe not?  A few things are for sure:  hindsight is always 20/20, and journeys like these are always full of "what ifs."

Dr. Nischal entered the room and instantly won our hearts.  He came in smiling and greeting us with flattery in his British accent.  Is there any better way to put an anxious mom's heart at ease and win over a girl's heart?  No, I don't think so!  He did a thorough assessment of Elizabeth's eyes, skull, and he commented that he had reviewed her chart.  Dr. Nischal also mentioned that he had heard about me, that I'm the mom that does her research, and that he was pleased to finally meet us.  I was honored to hear that from him, and it definitely made me feel like maybe all of my countless nights awake reading articles from medical journals has been worth the time spent... like maybe I'm not doing such a bad job after all?  Sometimes, it is very easy on this journey to feel like you are simply not doing enough.  It is a very easy pit to fall into. I've fallen in and climbed out time and time again. I'm sure that I will many more times in the future. After his initial assessment, Dr. Nischal said that he wanted to have her eyes dilated to get a better look at her optic nerves. So, we waited for the eye drops to work in Elizabeth, and I started writing down questions to ask him when he came back to finish the rest of the assessment. 

Elizabeth was not very happy during the exam with the lights and the microscope.  We were singing her favorite songs, but she was still not happy.  Immediately after he was done assessing her, she was very pleasant and smiling, and turning on her Princess Elizabeth charm.  Then, the discussion began, and it yielded a wealth of information. Here is Dr. Nischal's insight on Elizabeth's eyesight:

1.  He feels that she should have a CT Scan to evaluate her for abnormalities of the skull.  

2.  Dr. Nischal agrees with Dr. Roman-Lantzy's and Dr. Goldstein's assessment that Elizabeth does have CVI.  However, he also agrees with Dr. Pav that she is not a typical case of CVI.  She is an atypical case, because usually in CVI the visual impairments are mainly related to damage in the cortical or visual regions of the brain.  In Elizabeth's case, her CVI is due to the extensive damage in the cognitive regions of her brain.  The damage in these regions impacts her ability to truly understand and identify the images that are being delivered to her brain.  Dr. Nischal commented that he fully trusts Dr. Roman-Lantzy's assessment of Elizabeth having CVI, and he felt that we should also continue to follow up with her in regards to tracking her progression. 

3.  The examination of her optic nerves indicates that she is missing sections of the optic nerve, when it is viewed laterally (from the side) in the left eye.  The optic nerve in the right eye has an abnormally deep groove in the center and is also very thin when viewed laterally.  Dr. Nischal classifies her as having hypoplasia of the optic nerves, which is consistent with with a diagnosis of Septo-Optic Dysplasia.  However, he also feels that she is not a typical case of SOD either. 

4. He also noted that she has several features that align with a disorder known as Kabuki Syndrome.  However, she also has other features that do not make her absolutely typical of those with Kabuki Syndrome.  Her eye shape, developmental delays, super long eyelashes, and blue sclerae are just a few of the features of the disorder that she displays.  Dr. Nischal recommends that they review her exome sequencing results to determine if she in fact has the genes responsible for Kabuki Sydrome, and if needed that an expanded exome result be done to take a look at those genes responsible.  

5.  She is now classified as having low-vision.  In fact, since May, her vision has decreased even more, but we are going to wait a few more months and recheck her vision before ordering new lenses. The next set of lenses will definitely be bifocals, because now she has difficulty seeing both up close and far away.  She also did not pass the visual acuity test using a set of cards at the beginning of the appointment, and at our next visit they will use a different set of cards to test her acuity.  

6.  Dr. Nischal feels that her case is so unique, because he feels that she is a mosaic of different disorders.  While this makes her valuable to medical research and advancement in the field of Genetic Ophthalmology, it is also means that what is going on with her and her eyes is very rare and unique. We have always known that she is one of a kind, but when you hear something like this from a doctor of Dr. Nischal's expertise and background say this, it gives it a whole new meaning.  His plan is to contact her doctor in the Genetics Department, and he will now be looped in on all testing and results.  He also is taking her case to discuss it at the weekly Ophthalmo-genetic case meeting at CHP.  He also does some co-op work at Oxford, and he wishes to discuss her case with those colleagues as well.  So, Elizabeth's case is going to be crossing the pond, so to speak. 

7.  Dr. Nischal would like to continue to see Elizabeth as a patient, and I graciously welcomed that idea.  I am so excited and honored to have him as a part of our team.  So, she will be seen by him in three months for another evaluation at CHP.  At that time, we will adjust her prescription accordingly for her glasses.  Dr. Nischal confirmed that she is losing her eyesight, and the cause we are unsure of at this time.  Maybe we will know more after our meeting with Genetics on Monday.  In the meantime, we will continue to watch her vision closely, adjust her prescription every few months as needed, and by doing so will continue to give her as much functional vision as possible for as long as we can. We just have to keep a close eye on her visual development. 

8.  We discussed visual supports and sending her to preschool at the Western PA School for Blind Children, and Dr. Nischal also agreed that would be an excellent placement for her.  He also agreed that she is going to need life long visual support. 

9.  Another reason that Dr. Nischal feels that Elizabeth is a unique case is that she has all three neuro-muscular conditions of the eye:  strabismus, amblyopia, and nystagmus.  Usually, all three of these conditions are rarely found in one individual unless there is an underlying neuromuscular or connective tissue disease.  Unfortunately, there is little we can do to correct the loss of her vision or issues with muscle control/ tone that are caused by her various neurological issues and brain damage.  The reasoning is similar to someone having a stroke and being paralyzed on one side of their body due to the damage from the stroke that is irreversible.  All we can do is watch, do what we can, and pray for the best.  

10. As for losing her vision, Dr. Nischal feels that she will in fact be blind, eventually.  The eyes:  they either have it, or they don't. 

It was a very, very informative and beneficial appointment that filled in a lot of pieces with Elizabeth in regards to her vision.  His insight was invaluable.  Even though we also left there with questions that still need an answer, we were able to answer many lingering questions.  We gained a valuable member to Elizabeth's medical team. Hopefully, our meeting with Genetics on Monday will help us to fill in some of the pieces discussed at today's appointment and other pieces that have been discussed along the way. If Elizabeth is truly a mosaic, we may never know, or it may take years, to really have all of the answers that we seek.  Do you ever really have all of the answers, though?  Really?  No, and that's ok.  All we can do is do what we have done all along.  Stay the course.  Keep moving along in the journey.  Stay strong.  Do everything we can, see everyone we can, who can help us help Elizabeth and fill in the pieces.  I just hope they fall in line, we piece together answers, before it is too late.  In the meantime, we continue to stop, look, see.  We continue to love and cherish the blessing we have been given.  Her smiles and giggles can light up the room and lighten any mood, no matter how heavy it may be.  

Status updates From Our Inpatient Stay

Here are the status updates from the hospital if you'd like some more detailed info.  I copied these into a blog post, as per the request of some of the followers.  If you don't already follow me on Facebook, now you know where to find me.

Tara Bly Hackwelder added 2 new photos.

May 27 · Pittsburgh, PA ·

We had a very successful team meeting and have a solid plan of attack. How long we will be here will depend on what the testing shows, how she responds to some experimentation with changing up her feeds, etc. A successful meeting, a Buccos win, filled with hope at the plans in place, a private room this time and the amazing Child Life staff brought her a bubble machine, and so it's been a great day. She is totally mesmerized by the bubble machine, and truthfully so am I. 

May 28 · Pittsburgh, PA · 

It's been a messy night to say the least... Between the prep for her scoping, her pulling her feeding pump tubing apart and Pedialyte soaking her and her bed, and already being on our second IV since 8:30 pm and the bloody mess from blowing the first IV, we have changed her and the bed four times now since 7:30 pm. She is tricky, for sure! So, desperate times call for desperate measures! A splint and a sock now cover her new IV, lots of snuggling and wiping tears, and a late night stroll finally put the warrior princess to sleep. ‪#‎thisishowwedoit‬ ‪#‎workwithwhayyouhavegot‬ ‪#‎warriorprincess‬ ‪#‎teamelizabethjeanne‬ — with Brian Jason.

May 29 · Pittsburgh, PA · 

I just left Elizabeth in the hands of an Anesthesia team for the 6th time since September. This is a pic that was before they took her out of my arms to put her under so that she is comfortable for her scoping. They blew the IV after giving her 1 ml of a med to help her relax before they put her completely under. Instead, it made her uncontrollably alternate between screaming, shaking and laughing. Now, they have to put in another IV, put her under and I'm waiting for the next approx 2 hours for her to be all done to snuggle her in recovery.

May 30 · Pittsburgh, PA · 

Mommy and Elizabeth fun during another rough night... Nasty cough (not sure whether it is from the increased feeding volume or from anesthesia... So let the process of elimination game begin), fever, trouble keeping blood sugar up... So, when its 3 a.m., we snuggle, jump, rip up magazines, talk, giggle, play with balloons, you know.... Fun stuff

May 30 · Pittsburgh, PA · 

Elizabeth is still fighting a fever and cough. Daddy and brother are here, and they brought gifts and cards that have been sent to the house. Thank you to everyone for your love, prayers and support. It means more to us than I can possibly express. Thank you to our special and secret angel who continues to shower us with generosity and words of encouragement. It brought tears to my eyes, as did the card from my friend, Jen. Although, Jen's card made me laugh, due to the message and added commentary, which was spot on...

May 31 · 

Elizabeth had a good night. She was up briefly saying , "mama," and holding her arms out for me, so we snuggled and she went back to sleep. The doctors agreed to test out my theory regarding her feed volume being too much for one time thus increasing aspiration and reflux, which therefore brought on the cough. So, she is getting feeds more frequently, but with less volume and at a slower rate, and since beginning the plan yesterday morning the cough is pretty much gone. We also started cough assist to help her clear her lungs, which she hates and its brutal to watch, but thank God for such technology to help her clear her lungs since she cannot do so effectively on her own. We both got some rest, too. I'm so grateful to have access to such an incredible medical team and the technology we have here to help Elizabeth. My heartaches for my daughter, and my son who is at home without us, but my heart also aches for the many children in the world who desperately need medical care, treatments and answers, but lack access to them. We still are not showing weight gain, but we are in the best place possible, and will figure this out because we have an amazing team that listens and are surrounded by love and support and prayer from all of you. This is a great article about special need parent struggles and being listened to... I've only had this problem a few times... But the struggle is real for too many others.

June 1 · Pittsburgh, PA · 

Update on Elizabeth: Elizabeth has developed a persistent cough during her feeds that is due to her reflux and issues with aspiration. She is receiving cough assist treatments to keep her lungs clear and to avoid pneumonia. Her heart murmur is back, and she isn't tolerating the increased feeds into her g tube very well. So, we are going to be having a different kind of feeding tube put in this week. It's called a g/j tube, and she will now be fed directly into her small intestine instead of her stomach. It will help to eliminate reflux and aspiration, or it should. But, she will be on continuous feeds pretty much all day and night. The small intestine can only handle small amounts of feeds at a slow rate, unlike the stomach which can handle larger volumes of feeds at a faster rate. She is not allowed to have anything by mouth and will not be allowed to eat by mouth for some time, and our hope is that once she grows and becomes stronger that the g/j can be reversed and she will be able to eat normally some day. It depends on her, and it's always a possibility that she will always have to be fed this way. Time and Elizabeth will tell us. It's looking like we will be here at least another week. Thanks for the love, prayers and support. We are on day 6 here, and she is being a real trooper. I'm so proud of how strong and tough she is being and has been through everything. Our favorite thing to do is cuddle and laugh, so we are keeping up with lots of that! Thank you to everyone who has sent cards, balloons, checked in on us, etc. It brightens our day for sure and we are very appreciative. We are truly surrounded by wonderful people.

June 2 · Edited · 

And, two years ago today, we brought our miracle, warrior Princess home from the NICU. That was such a victory for us... To finally have her home. We had no idea that we wouldn't see the last of hospitals and doctors and time away from each other. We were just so glad to have our newborn baby girl home... All 4 pounds 8 ounces of her. It was a struggle to get her here with lots of hospital admissions, watchful doctors and bed rest. I cannot thank the staff of Maternal Fetal Medicine at Magee and my longtime friend and former college roommate, Meredith Lynn, enough for safely delivering Elizabeth and for reassuring me when I could not hear her crying, letting me know that the neonatologist had successfully put in a breathing tube and that she was breathing, and for sitting by my side when I cried and sobbed at the hospital when I was finally discharged and had to leave her behind. Even despite continued struggles to keep her healthy, growing and thriving, the fact that we were chosen to have been given this beautiful baby girl is nothing short of incredible. I am so proud of her, and so grateful to have been chosen to be her mommy. We are getting a continuous 12 hour feed today, just see how she does being hooked up to lines and feed and a pump all day long. We will be having the new feeding tube put in later this week. For right now, I'm taking bets on how many times the nurses and I will have to untangle her today... 😋..I'll be sure to announce the winner later

June 2 · Pittsburgh, PA · 

Just an FYI: If you're at a pharmacy and need to buy a decongestant and don't have your driver's license, they will accept your carrying permit as acceptable photo ID. I found this out this morning. ‪#‎1001usesforaconcealedweaponspermit‬

June 2 · Pittsburgh, PA · 

Update from today:

1. Elizabeth is a master at yoga. Her downward facing dog is pretty impressive. It's almost as good as mine. Maybe she watches and learns more from me than I realize. 

2. The continuous daytime feed can suck it, and we will not be doing that again. A Yogi, Ninja, way- to-flexible-and-active-for -failure -to -thrive two-year old princess +being tube fed and attached to multiple lines all day= a tedious game of untangling called, "what line is this anyway?"

3. The residents clearly are not fluent with my level of sarcasm

4. I'm thankful that I do fully practice my right to bear arms, or I wouldn't have been able to purchase a decongestant by using my carrying permit as ID. It's the most American way I have ever cleared my sinus, and I can breathe again. Hospital air after 7 days and my allergies do not mix. 

5. The Pop Stop and their mocha milkshakes are beyond divine. I finally broke down today and had one. I think I may be in love. 

6. Elizabeth finally crashed and took a nap. She is so beautiful and peaceful and still when she sleeps. She melts my heart. It was the only hour and a half that I was not untangling her, cleaning up vomit or diarrhea since 6 am. 

7. We are hoping to get on the schedule to get the g/j tube tomorrow or Thursday. If she does well, and we figure out a feeding schedule that she can tolerate and doesn't interfere with her acrobat and contortionist lifestyle or cause any nasty uncontrollable physical manifestations that she can conjure up with wizard-like precision, we could be home this weekend.

8. I have discovered a new talent as a meme creator. I laughed so hard at my work today that my sides hurt. 

9. I love books and popcorn, preferably together. I also love running to very loud music and am thankful for the parent gym here at Children's. I'm not sure the others appreciated my impromptu dance moves between switching equipment or the singing that I didn't always realize I was doing, but really they should thank me for the free entertainment.

10. I'm still unsure why I can't order wine from the cafeteria. I have drafted a frequent flyer program for parents of patients at CHP that includes earning points towards pedicures, massages, couch/sleeping accommodation upgrades, bottles of wine, European beach vacations and a variety of other things. I fully intend to have my draft edited and submitted before we are discharged, and I'll be turning it in to the necessary parties before I leave. (Suggestions are welcomed and encouraged) 

That is all. Thank you for the love, prayers and support

June 3 · Pittsburgh, PA · 

Three big updates on Elizabeth:

1. She had her G/J tube put in this morning. They were able to do so without surgery or putting her under, which was awesome. She is now being fed directly into her small intestine. It will mean quite a bit of changes for her, as she will now need to have slow/ continuous feeds. She is getting 15ml/ hour right now and is tolerating feeds so far. Her cough is also miraculously gone since she is no longer being fed through her stomach. I don't want to or like to say, "I told you so," but I did say days ago that the cough was a sign that she wasn't tolerating the increased feeds well. 😳 ‪#‎notadoctorjustamom‬

2. Due to some medical issues that have come about since we have been admitted and due to her overall general well being at this time, there is some debate as to whether they will clear us for travel to see the specialists in San Francisco and Boston in the next few weeks. Obviously, her health and safety are most important, and we can always reschedule, but I'm frustrated because I've been telling them she wasn't well for a month now. I can't help but feel if all of this had be taken seriously a bit sooner (I.e. Her weight loss and other issues since getting the G-tube in March) that maybe travel wouldn't be an issue now.😐

3. I am super grateful to the amazing staff in all areas here at CHP. The guy in the cafeteria now knows exactly what I'll be having for breakfast. The nurses chat with me like we've been BFFs since elementary school. I can't even take a nap when Elizabeth does because there is a steady flow of staff coming to check in on us and asking if we need anything or if there is anything they can do or get for us. Her team of doctors are amazing, even though I've had a few minor frustrations. It's been a long 8 days, but I'm so glad we are here. She is where she needs to be for sure.

June 4 · Pittsburgh, PA · 

She looks way better than I do as we begin Day 9 here at Children's! I'm a bit biased, but I think she is so beautiful, even if she's sticking her tongue out. Elizabeth is almost always laughing and smiling even in many situations when she has every right to cry or be angry. It's amazing how much you can learn and all of the beauty and laughter that can be found in someone so small. We will not be going home today, because we still need to establish a solid feeding plan and she lost weight today. In the meantime, I'm going to kiss, cuddle, and love on this little, miracle, warrior princess.

June 4 · Pittsburgh, PA · 

Today, Children's Hospital of Pittsburgh is celebrating their 125th birthday. They invited all of the patients with a hand delivered invitation to attend the party. They had music, dancing, lots of activities for the kids, and it was very fun. Elizabeth and I went down and joined in the party, and I'm so glad we did! We also had a nice visit from Alisha Hoover Cooper and Miss Avery Sue!!! The people that you meet along journeys like this are truly immeasurable treasures. I am so thankful for Children's Hospital of Pittsburgh, for all they have done for Elizabeth, for my newly formed network of strength found from my fellow special needs parents and their incredibly strong children, and for all of my family and friends (all of you!) who continue to pray and support us as we continue onward. I never imagined that Children's Hospital would become such a necessary and influential part of our lives when I became a parent, but I am eternally grateful for this amazing place. Happy Happy Birthday, Children's Hospital of Pittsburgh! Here's to many more years of you giving families like us help and hope to keep our complex kids going through the paths that they have been set upon

June 5 · Pittsburgh, PA · 

Congrats to all of my teacher friends at KC... You did it... You survived once again. A big congrats to all of the graduates!!!! Best wishes to you. Enjoy college and try to always make the best of the real world. I usually have an 8th grade, end of year, dance, karaoke, laughter, tearing up old essays party in my classroom today. I'm sad that I missed out on that. It's super fun! 😁

The reason I'm missing it is much more important, but I do miss my friends and students at school. We were hoping to go home soon, but soon is a relative term. Elizabeth didn't tolerate her increase in feeds well yesterday, and the cough came back. So, we had to decrease the rate. Elizabeth has always and will continue to be an extraordinary little girl who does things at her own pace. I take cues from her. What works for her isn't what works for other kids, and that's ok. We are having a vision test done today called a VEP, which will tell us how well her nerves and electrical impulses involved with her vision are functioning. We will also continue to monitor her health and well being and symptoms in response to her feeds, etc. Unless something big changes, we won't be home until probably next week sometime. Thanks for the love, prayers and support

June 5 · 

Update, thoughts, random items from Day 10: 

1. One thing that you learn quickly from a journey like this one and from being the parent of a special needs or medically complex child is that information, answers and having to learn things that you never imagined you would have to learn are both a blessing and a curse. It's a wicked combination of peace and heartache that you can't really make sense of, but that you have to make sense of, and that you have to learn to live with and come to terms with no matter what.

2. When I graduated 15 years ago from high school, I knew that I wanted to help, work with, and be an advocate for children and their families who were experiencing difficulties of all kinds. I earned my Psych degree and two subsequent Master's Degrees to do just that: to counsel and educate and advocate for children, youth and families, especially those who have difficulty advocating for themselves. I never imagined that I would one day have to use those skills for a very personal reason: my daughter. You don't always realize why you're being set upon the paths that life sets before you, but it is clear to me now that all of my training, education, and love for knowledge and advocacy was to prepare me for this journey with Elizabeth. 

3. Even if there are and have been numerous errors in communication during this journey and especially during our recent hospital stay, I still remain grateful for the world class care that we have access to right here in our backyard. Today, Elizabeth had a test done and had a consult with one of the world's leading experts in Genetic Ophthalmology that is a member of the staff right here at CHP. We see him in July for the results of the testing today, which measured Elizabeth's brain's ability to interpret visual stimuli and input. Our team of doctor's right here in Pittsburgh are some of the best in the world. Whenever I get frustrated, I meditate on that for a few minutes, and I sets my perception and irritation in the right direction again. They may be doctors, and world class doctors at that, but they are also humans. I make plenty of mistakes, all of the time, because I'm a human. I learn from them, or try to, and move on. I do the same thing with frustration... I just move on. It does no good to hold on to such things. In the words of Elsa, and from the movie Frozen that I now have memorized word for word, note for note, from beginning to end since we have seriously watched it at least 30 times since we have been here: Let it go!

4. I've always been fascinated with PTSD, and I have a particularly strong interest in the treatment, care, screening and program efficacy as it relates to Veterans. In fact, my thesis for my Master's Degree focused on just that subject. Once again, life was preparing me in ways that I did not realize. Today, they had to place electrodes on Elizabeth's head for her VEP test. As soon as she saw the electrodes, she freaked out. My usually happy, sweet, giggly girl was screaming, thrashing and completely lost it when she saw the electrodes. They had not even put them on her head or even attempted to do that... They simply showed them to us. That was all that it took. It took three of us to hold this 19 pound child still so they could place the electrodes on her head and wrap them into place. Then, I had to hold her on my lap for an hour while they conducted the test, as she cried and thrashed and wiped snot and boogers all over my black shirt. It now has an obscene, a literally obscene, amount of white crusted spots all over it. Once they took the electrodes off, she was totally fine. PTSD is for real, and Elizabeth definitely has it. Betsy Daley, we talked about this today. I changed my shirt, but I cannot change or erase the memory of how terrified Elizabeth is when she sees electrodes for her scalp. It's a terribly heartbreaking experience to not be able to ease your child's worry or pain, to not be able to fix or solve things that are wrong, and the struggle is real and I live that every day.

5. I would like to thank my special needs mom friends. Some of you I have never met in person, but I hope to some day. Those of you that I have met in person, I knew we would be friends from the moment we were connected via mutual friends, on Facebook, or through support groups. Thank you all for your wisdom, friendship, love and support. The struggle is real, and you know it because you have lived it. I'd like to give a special bit of praise to Alisha Hoover Cooper, Betsy, and Sara Laverick Stewart. You are three of the most strong, beautiful, Warrior Queens that i know and I am so honored to call you my friends. Thank you for keeping me sane and in check so that I can stay the course instead of run away or stray from it. 

6. The Child Life Staff has helped to make our stay here fun. I'll be posting pictures later from our time spent in the sensory room, which Elizabeth loved! And, they brought me a little care package today. I am so very thankful for them. 

7. Elizabeth is improving, and she is gaining weight at approximately a rate of 30 grams a day. Slow and steady, just like her feeds. When we get to go home, she will be hooked up to her pump and will be fed for 20-24 hours per day through her G/J tube directly into her small intestine at a rate of 55 ml per hour. I wasn't joking about living in a metric system world now. Slow and steady is what she can tolerate that allows her to both grow and be healthy. It changes your life in big ways when your child has to be fed literally all day, with nothing by mouth, but it is what she needs. So, we gladly adjust accordingly.

8. I never thought that I would do laundry at a hospital. I can now cross that off of my bucket list. 

9. I have lost weight during our stay here and I am wearing a pair of jeans right now that my ass hasn't fit into in 6 years. Miracles do happen...keep the skinny jeans, my friends. 

10. I know that I'll jinx myself, so I won't say it, but the end is near. In no time, I will be home, taking a long and hot bubble bath, sipping or gulping wine or whiskey or both out of my favorite glass, cuddling with Celtan and sleeping in my king sized bed, and waking up to my peonies, hydrangeas and lilacs in the morning and greeting the dawn of these changes and this crazy, beautiful life with every fiber of my being.

.

June 6 · Edited · 

The reasons why I sleep right in her room, literally feet from her crib, in the hospital are endless. Tonight's #1 reason: to sit her up, reassure her, calm her, hold her hair back, frantically call for the nurse, because she is profusely vomiting and choking on it. Another bath, another outfit, another cough and a chest x ray forthcoming to determine if any of that remains in her lungs, especially if she aspirated during that episode. Now, we are snuggling and watching Frozen, again. She is calm, but the effects linger with me..

June 6 at 3:22pm · Edited · 

Always begin with the good!! 😊An incredibly enormous thank you to the super sweet Dittman Family for totally making Elizabeth's (and my) day! They obviously have connections, and they were able to arrange for Elsa (Elizabeth's favorite!!) to come and visit Elizabeth. They hugged, and danced and Elizabeth smiled and was so excited. Elsa even gave Elizabeth her very own crown, which she is still wearing. Thank you so very much to the Dittman's for such a sweet and thoughtful surprise. It really meant a lot to us, and to the several other patients who saw Elsa, too. She stopped and visited and took pictures with the other patients who were watching her and Elizabeth.

So, Day 11 began with a rough night here. Thankfully, the X-ray showed no signs of aspiration from all of the vomiting, but it did show that her J tube that she is fed from has come out of the small intestine and is coiled up into her stomach. This could be part of the reason why she was so sick last night. We also have other theories that we are ruling out, as well. In the meantime, the g/j tube needs to be replaced and retuned to the small intestine, which they will be doing any minute now. Good luck if they try to take her crown that Elsa gave her. They will get the "princess stink eye" for sure. At this point, it's unclear when we will get home. Again, soon is a relative term. It depends on how she tolerates having the tube replaced, and feeds, and the additional testing and the results to rule in/out these new theories for the vomiting and feed tolerance issues, and as always we operate on Elizabeth time. We were hoping to go home tonight, but that is totally out of the question now. So, we remain here and are watching Frozen... Again... 😋

Seriously, thank you to the Dittman family. I will never be able to say that enough. The smile on Elizabeth's face when she saw Elsa was priceless, and I will never forget it!

June 7 at 5:51pm · Pittsburgh, PA · 

Elizabeth Update: On day 12 here at Children's. Last night, she continued to have vomiting and choking episodes. So, we turned her rate of feeding down yet again hoping that would be the answer indicating she was being fed too much too fast. Sadly, this isn't the answer and in the past hour, she has had had two more vomiting and subsequent choking episodes that have brought up a significant amount of fluid. The GI team was just here. They said she needs to have additional testing done, hopefully tomorrow, to evaluate her for motility issues in her digestive tract. They are also going to be changing up her reflux meds, and we are going to be starting her on different fluids to reduce irritation and prevent dehydration so we can hopefully keep the IV team away. Elizabeth has finally calmed down, and she is resting peacefully. I am sitting beside her with watchful eyes. For two years, I have watched her cough, choke, and vomit with feeds, and it never, NEVER, gets any easier. It's terrifying, and it literally takes years off of my life every single time. It's a nasty combination of panic and terror every single time this happens to her for both of us. So, day 13, tomorrow, will not be the lucky day for us. We will be here until they can figure out what is causing this and how to stop it. In the meantime, I'm hoping that she doesn't aspirate any of this vomit into her lungs, causing another mess of issues and concerns. In happier news, Elizabeth has finally surpassed the 20 pound mark, and she now weighs in at 21.5 pounds. She is also much more alert, active, making new speech sounds, and is being much more interactive with toys and people. Nutrition is the building block for wellness. Now, if we could just get her body to realize that it's ok to be fed and to tolerate nutrition. As always, thank you for the love prayers and support. She's still in love with her Elsa crown (Thanks again, Dittman's). I continue to fall in love with her strength and happiness despite her many setbacks. Always the warrior princess ... ‪#‎teamelizabethjeanne‬

June 9 at 3:53pm · Pittsburgh, PA · 

14 Updates, thoughts, etc. on Day 14:

1. It's day 14, and we remain in 747 on 7c at CHP. Unfortunately, it's not a 747 taking us to some delightful destination, unless you consider progress delightful like I do. However, I wouldn't turn down a trip to a beach or forest, just sayin.

2. For the past several days, Elizabeth has battled some serious vomiting related to her reflux not being properly controlled. I'm happy to report that the vomiting seems to have subsided, and Elizabeth is pleased about that, as well. There is nothing more terrifying than choking on your own vomit or watching your child choke on their own vomit. The amount of years I have left on this earth are quite questionable after the numerous times I've had to jump up, and suction and help her cough out vomit and stop her from turning various hues of blue, red and purple in the past few days. She is now on a nice cocktail of Reflux and nausea meds, which seem to be doing the trick. I'm hopeful that we will continue to see progress with the magical medicine cocktail, and the doctors are, too.

3. One thing always leads to another. This is always true. Now that the vomiting is under control, we are now having too many things come out of the other end. Now, we are battling rapid, explosive diarrhea. The current count is 33 diapers, many of them total blowouts, since 3 pm yesterday. In true Elizabeth fashion, she often laughs as she is uncontrollably pooping, and she found it especially hilarious at 2 am when she pooped all over my arm. I guess I have effectively passed on the "find humor in all things" lesson to her. So, numerous and frequent bed changes and baths are still part of the routine.

4. With all of the vomiting and diarrhea, she is now struggling with dehydration, and we have a date with the IV team later. She is clearly feeling the effects. She is very tired, cranky, and she has every right to be. Every damn right to be.

5. Elizabeth doesn't fit into any specific diagnostic box. She's definitely carving her own path, and I couldn't be more proud. I want my children to carve their own path. The doctors struggle with that a bit, and we had a discussion yesterday that involved me asking them to stop using the words normally or typically or usually when discussing symptoms and failed plans. She isn't typical or usual and what in the hell is normal anyway. Kids like Elizabeth move at their own pace, continually redefining medicine and progress and knowledge, and you have to think outside of the box to make progress with kids like her. We also had to have the "what's the harm in trying discussion?" When something isn't working, you need to try something else, right? My philosophy is: you never know until you try. This certainly applies in her case. Part of the reason we are still here comes from unwillingness and hesitation to try something different, something that defies what is written on page 350 of the Pediatrics 101 text book, trying things that usually don't have to be tried because they normally work, and hesitation to think outside of the box. The other part of the reason that we are still here is that Elizabeth herself is leading us to answers and solutions at her own pace. As always, at her slow and steady and miraculous and own beautiful pace.

5. I am so thankful for the family, friends and people near and far and some that we've never met, but that love and support us all of the same. You are all beautiful, lovely and wonderful humans, and you make my heart glad from the kindness, generosity, love, support, and prayers that you have showered us with along the journey. We appreciate you, and you make our hearts happy.

6. These long nights awake have enabled me to find solace and develop a very hot love affair with coffee. I mean, I always knew that I was a fan of coffee, but we've taken our relationship to a whole new level. We may have to have a talk soon, because I feel that maybe we are dangerously bridging towards co-dependency. It's clear to see that coffee understands my needs and is an excellent provider. I'm thankful for this recent relationship building time together over these past few weeks, and I'm pretty sure that we're both in it for the long run.

7. A huge thank you to my mom, Amy Kepple Bly, for coming to my aid, allowing me to get a little sleep, and for being a huge piece of moral support for me the other night, and always, at the peak of Elizabeth's sickness. You are never too old to need your mom, even if you don't want to admit it.

8. The theme of the past two weeks is clearly: you never know unless you try. Actually, it's one of the major themes of life. If something isn't working, then try something new. If that doesn't work, then try something else. You don't know if you like it, don't like it, or if it works or it doesn't until you try. End of story. We don't make progress by standing still and being hesitant or unwilling to try. Whether it's finding answers for your medically complex child, or finding what truly makes you happy and your heart tick, or trying to figure out if you like vegetables or beer, you'll never know until you try. When we stop trying, then there is no progress, or hope, or growth.

9. Speaking of hope, this whole situation sucks. I'm a fixer, a problem solver, and I just want the people in my life to be happy and healthy, even if it costs me personally. This sucks, because I can't fix this. I can't take this away from Elizabeth or make it better. It's a constant can't eat, can't sleep, full of worry heartache. It sucks. However, no matter where this journey leads us, no matter how poor the prognosis, no matter how tedious or tiring the care she requires, I will continue to be hopeful. Losing hope means that we have lost this battle. I refuse to lose. I refuse to believe that this is as good as it gets for her. I refuse to lose hope that she will thrive, grow and continue to amaze. I just refuse to lose hope. Despite of how much this just sucks, we have a lot to be thankful for and be hopeful about, and hopeful we will remain.

10. I put face cream in my hair this morning. I have no idea why I did that. I will say that I'm having a good hair day, so maybe I'm on to something. I also really enjoyed the group text between my cousins and sisters that ensued after I shared this mishap with them. Unfortunately, I am unable to share the contents of it with you due to the level of sheer inappropriateness that took place. Just know, that I got a good laugh in before 8 a.m. for sure.

11. Elizabeth has lost all of the weight that she has gained since admission. So, we are continuing to explore other options like changes in formula, additional testing, etc. to try to promote tolerance of feeds and weight gain. We are going to be here until they can figure it out. So, instead of targeting an anticipated discharge date, we are just going to let that be a surprise. Elizabeth and I both love surprises, and so we look forward to it.

12. I am so thankful for old school nurses who do no harm but take no shit. They make our time here very entertaining and productive. They also are fluent in my level of sarcasm, which is always a plus.

13. I am writing an alternative script to Frozen for adults only. I'm pretty pleased with my work.

14. I have to really hold back, but eventually I won't be able to any longer. So, be warned that at some point if you ask me if there is anything that we need, or anything you can do, or anything that you can bring, please do not be shocked if my response is, "Lawyers, Guns and Money." (You can thank Warren Zevon for that.)

We are, always...

‪#‎teamelizabetjeanne‬

June 10 at 9:00am · Pittsburgh, PA · Edited · 

Tears wiped away, screaming stopped, but the Princess stink eye still remains in full effect after already being stuck twice with a needle today on Day 15. She's chilling, and you guessed it, watching Frozen

June 11 at 2:08pm · Pittsburgh, PA · 

Day 16:

1. All you need is a diaper, or underwear in my case, and a crown. Unfortunately, only Elizabeth can get away with that here. 😁

2. There is nothing worse than holding your child as they cry and scream and shed tears of discomfort and pain. Nothing worse. No matter the time of day or night. The feeling of helplessness that I feel during those times literally hurts my heart so much that I feel like my chest is going to explode. It shreds apart hopes and dreams and just totally wrecks me. We've had way to many of those times. That's part of the journey, especially when you have a medically complex or special needs child. It sucks. It totally sucks, even when your typical child is having a bad day, but experiencing it over and over again with the same child just isn't fair. Life isn't fair. I get that. I just hate the universe for times like those that you can't take away. Hope always returns, and when the tears and screaming end, it is hope that brings peace. The memory remains, though, always.

3. I want to throat punch Hans in Frozen. He's a jackass. But, I've been in Ana's shoes, way more times than I would care to admit, and I totally get why she fell for him on so many levels. However, I still want to throat punch him, and this may or may not be part of my adult alternative script for Frozen. No spoilers, sorry.

3. I want to throat punch Hans in Frozen. He's a jackass. But, I've been in Ana's shoes, way more times than I would care to admit, and I totally get why she fell for him on so many levels. However, I still want to throat punch him, and this may or may not be part of my adult alternative script for Frozen. No spoilers, sorry.

4. Again with the "you don't know until you try." After two hours in the middle of the night of Elizabeth screaming and crying in pain, big tears rolling down her cheek, her staring into my eyes pleading for help, and her passing more gas than I thought was humanly possible for a human, let alone a human her size, I had the doctors paged. I very calmly but firmly said that they needed to do and try something. They agreed, and behold, we started a new formula and are already seeing improvement. I'm hopeful this is the ticket for her and will be our ticket to home.

5. I'm supposed to run in the Dirty Girl Mud run with my sisters and mom on Saturday. I'm hoping that happens. If not, as soon as I get home and can get away I have full intentions of rolling in the mud, getting way more than dirty, hopefully shredding a few whiffle ball bats off of some trees, firing several rounds of a weapon at some kind of target, possibly blowing up some things, and adding a few (or more) adult beverages in there once I'm done with weapons and explosives of course. I'll gladly take offers to arrange such an expedition, as I'm sure it would only add to the entertainment value. I'm way overdue for a day in a field or in or under a tree. Some call it being a redneck, I call it therapy.

6. I've really developed an effective leg workout while in the hospital. You sit on a chair and push your child's stroller with your legs. All over toning, for real. You should try it.

7. Elizabeth gained a significant amount of weight. Like 300 grams in a 24 hour period. That's really quite incredible, especially for her. She is obviously rare, as most girls want to keep weight off.

8. The doctors admitted today that Elizabeth is one of a kind, a miracle and she has them quite stumped on many levels. That's my girl. I want her to never settle, to always amaze, to keep fighting. She will, and my hope for her future is great. It's just a slower path, but it's her path. She owns it. She controls it. She is a fighter and has been from the start. I fought so hard to get her here and to keep her here, and I will never stop doing that. Can't stop, won't stop, for real. (There's your old school rap reference for the day. You're welcome.)

9. I could not be anywhere else but by her side. However, the importance of figuring this all out not only benefits her, it benefits our family. Time spent here with her is time spent away from Celtan. It's not fair to him. God, do I love that kid. I love both of my children more than I can express to you in words. I thought I knew what it meant to be in love until the moment that I first laid eyes upon them, and then I knew that I had never really known love. Every day, I talk to him on the phone. Every day it's a string of "I love you," and "I miss you," and "I can't wait to see you, mommy." We say those things back and forth and over and over again, but it doesn't fill the void of being there. The heartache that I feel for Elizabeth and everything she has fought and continues to fight is compounded and multiplied by the heartache that I feel because I'm also away from Celtan. It's a terrible thing to have your heart torn in two directions. So, the other reason why answers and solutions and progress are so important is that they are important for all of us, as a family.

10. I know that I say this a lot, but I can't say it enough. I am so thankful for my family and friends. I'm so blessed to be a part of your circle of love and support. Truly blessed.

11. I have developed a new form of under eye circle previously unknown to mankind. I'm hoping that they fade away once things start to settle and I can sleep in a bed again.

12. Speaking of being in bed, I cannot wait to crawl into my king sized bed and lay diagonally across it and enter into a furiously refreshing sleep. I fully intend to take the whole bed for myself. That bed and I have been together for a long time. It knows my soul. Bed hogging habits die hard, especially when you slept in a giant bed, alone for some time. Sorry, Brian Jason.

13. I'm not sure anyone can truly grasp the impact that having a child hooked up to a pump that feeds them directly into their intestine 24 hours a day has on their life or will have on our life, unless you are one of my fellow tubie parents that get it. It's a constant struggle with untangling tangled lines, pushing a pump on a pole around after your child, or carrying your child's pump in a backpack on the occasions when you leave the house or have to leave the house. However real the struggle may be, it is one that we welcome as it brings and bears fruits of growth and progress. It does however change things. It puts things into perspective, but it gives us what we have always desired for Elizabeth: growth and health and progress.

14. We have cancelled the trips to Boston and San Francisco and will reschedule them for a later time. Elizabeth needs time to recover and adjust, and her doctors and we too agree that now is not the time to travel. It would not be in her best interest, nor is she healthy enough at this time, and so be it. We look forward to going in the future.

15. I am so incredibly grateful for her team of doctors, the amazing nurses and the other incredible staff for everything that they have done for Elizabeth, but for everything they do day in and day out for many other children and their families. This is a wonderful place, and I'm so incredibly grateful for everything that they have done for my sweet Elizabeth.

16. Life is always what you make of it. It is always about perspective. Some days, I throw my hands up in the air, say "F this" and want to run as far and as fast as I can in the opposite direction. But, most days, I look around and can't help but smile at this life that I have been given that is full of so many beautiful, amazing and incredible blessings.

Here's to hoping and praying and wishing upon a million falling stars that tomorrow or soon that we can go home. Thanks for all of the love, prayers and support. Thank you for being a part of ‪#‎teamelizabethjeanne‬

June 11 at 10:56pm · Pittsburgh, PA · Edited · 

All good things 💗

1. First, and foremost, we seem to have reached the ultimate cocktail of medicines, formula and feeding rate for Elizabeth. She has had an excellent day. In all honesty, it is the best I have seen her feel and look in a very long time. I won't say it and bring the curse upon us, but if we have a good night, and she shows weight gain at her morning weigh in, well.... 👯

2. I am so very blessed to not only have attended, grown up in the community and to now be a member of the KCHS faculty. It is truly not a group of colleagues, but a family. You all have given Brian Jason and I and our family so much unwavering support and have been so incredibly generous during this journey with Elizabeth. I would like to thank my friend and co-teacher of 8th grade English, Jen Hefferan Kramm, for coming down to visit today and for bringing a bag of goodies. You have been so thoughtful, kind and a big support in and out of the classroom to me. I appreciate your friendship and generosity more thank you know. Also, we have an incredible English department that I am proud to be a member of, and that have also been very supportive and generous and full of kindness and understanding throughout everything with Elizabeth. Jen delivered a card from the department that was filled with generosity and kind words. You all are near and dear to my heart, and I cannot thank you enough. I would especially like to thank Megan Bernstein Slaugenhoup and Joy Kinnard Heilman for being an added branch of support to me through all of this. You are all amazing.

3. There is something to be said about girlfriends that have been there to laugh and cry and do everything in between with you, no matter how much time, space, kids, careers, etc. distance you from each other. When you have known someone since elementary school, and after 20+ years you are all still friends, it speaks volumes. Thank you to Rachel Wilson and Jen Ozdinec for coming down to visit and bringing a bag of goodies, for your laughter, love, friendship, and for the selfie stick. You are both beautiful, lovely, and I'm so glad that after all of these years, and that even though we don't get to see each other as often or as much as we would like, that we can always pick right up like we have never missed a second. 😘

4. My family is the best. Thank you to my mom and grandmAmy Kepple BlyBly aShirley Keppleple, for staying with Elizabeth so that my dad and sisteEmily Rekichich, could take me out for dinner.

5. So..My dad and sister took me out to dinner. I ended up hiding in a bathroom in a restaurant, because the guy sitting beside me wouldn't leave me alone and kept telling me that I was gorgeous and lovely. While it was funny, I really just wanted to eat my giant cheeseburger at Tessaro's and drink my Summer Shandy. FYI, I was pretty sure I was going to have to pull the time tested and trusty diversion card, which in those situations requires my name to be Roxanne and my phone number to be 867-5309 ‪#‎masterofaliases‬ ‪#‎workseverytime‬ ‪#‎jennyistooobvious‬ ‪#‎beergogglesinfulleffect‬ ‪#‎beeninahosptialfor16days‬

6.We passed a bar while walking down Main Street called "Tea Bags." The slogan on their sign said, "Tea Bags: Where you are always in hot water." The irony of the situation is that the adjacent business is the "Keep it Klean Barber Shop." I shit you not. I had to take a picture. To all

June 12 at 12:09pm · Millvale, PA · 

We are headed north... And will be listening to our traditional jailbreak song as we go... The link is below if you care to join in with us in spirit 😁 thanks for all of the love, prayers and support! 

http://youtu.be/g3QO6_rz21k

June 12 at 1:19pm · Butler, PA · 

I'm pretty sure this picture says it all. But, just in case it doesn't... Celtan is marching around playing me an original composition on his kazoo, Elizabeth is on the floor giggling, Jason has the house all cleaned and has pizza already on the way (my favorite), and my heart is full of love. Thank you, everyone! We are home. Cheers to the next part of our journey as ‪#‎teamelizabethjeanne‬!

This was one of my favorite photos that my cousin, Katie Callihan made while we were in the hospital. This is a picture of Elizabeth, Katie's daughter Jade, and my sister Emily's daughter (my niece) Aubrie on Memorial Day. The captions are priceless: