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!
