Feeling the Love in February
Well, February has been cold, cold, cold here in PA. Right now as I type this recent blog entry, it is snowing outside again. We are warm inside of our house, spending yet another day in our pajamas, and we have water now (thanks to my dad). We couldn't ask for much more. Truthfully, we are all a bit stir crazy. School was only in session 3 days this week due to the extreme cold, but hopefully the weather will break soon. Until then, we are operating happily in the realm of super heroes, princesses, Hungry Hungry Hippos and the Teenage Mutant Ninja Turtles version of the game "Trouble." I love to watch Celtan play, and lately Elizabeth has been really interested in watching him play, which is also simply incredible to see.
We continue to be overwhelmed and filled with gratitude by the amazing amount of support that has been extended to us from our family, friends and community. I will be adding another post today to discuss the upcoming benefit. I have had many people contact me and asking how they can help. We still are humbled and very thankful for everything. Our secret angels keep storming us with very generous gifts, inspirational notes and cards, and our prayer angels are keeping up the vigil sending prayers our way. We appreciate it all more than you can imagine. Thank you to our one secret angel for the continuing gifts of Wal Mart gift cards, which have been a tremendous help to us to get things for Elizabeth, groceries, etc. Also, a big thank you to the lovely Valentine's themed card from another secret angel in disguise that provided us with kind words, a gift card to Wal Mart AND a gift card for us to have a date night. We have yet to go out on our date night, but when we do, we will be sure to thank you again then. The mystery of trying to figure out who these people are is actually a fun way for us to pass the time while we wait for answers and continue on the path. I hope that one day I find out who all of you nameless angels are and can thank you properly, but part of me realizes that I may never know who you are and may have to continue to thank you regardless of knowing your identity. Celtan particularly enjoys the mail. Again, thank you to all of our supporters. We truly and sincerely appreciate it.
Elizabeth has recently made some progress and has also been continuing to struggle with infections. Since mid-January, she has had a recurrent respiratory infection, which has included an abundance of mucous, a cough, intermittent fevers, etc. We have been using suction to clear out her snot, inhalers, cool mist, elevating her bed, and anything really to keep her comfortable. We have also been keeping a close eye on her cough and have been to the Pediatrician's office several times in the past month to have her cough checked out. Thankfully, this upper respiratory thing has not spiraled into something worse, like pneumonia, but she still can't seem to fight it off.
Last week, Elizabeth started spiking some higher-than-usual intermittent fevers. She was not her usual happy self, was refusing to eat, and seemed very lethargic. So, I left school early one day to take her to the doctor. They swabbed her for the Flu and for Strep Throat. They also catheterized her and got a urine sample. Thankfully, the Flu and Strep tests were negative. However, the nurse called me the next day to tell me that Elizabeth's urine was again infected and showing growths of E.Coli. So, they started her on another antibiotic. The antibiotic seems to be helping her out. However, this is her third UTI (Urinary Tract Infection) since November, and now we are being referred to Urology. Her team of doctors feel that a referral to Urology is warranted, because that is a high number of UTIs in a short amount of time. They want to try to determine if there is something physically that is causing the frequent UTIs, like Bladder Reflux or some kind of malformation in her urinary tract. So, we are scheduling an appointment in Urology.
We had a nice, quiet Valentine's Day at home. Since Elizabeth was sick, and we had yet another snow storm that day, we stayed in. We watched movies, played games and with toys. Celtan kept giving Elizabeth hugs and trying to give her a kiss while telling her Happy Valentine's Day. At each attempt, Elizabeth would give her brother a dirty look, as if she was saying, "Leave me alone!" It was rather entertaining, and we call that look, "The Princess Stink-Eye." At least that is normal, she definitely lets you know when you're annoying her. Celtan really enjoys holidays. He made up a song about love, and his family, and kept saying, "Happy Valentine's Day, I love you guys!" It was adorable, and I did get a video of it that I sent out to our family.
On Monday, February 16th, we had several appointments scheduled at CHP and at the Children's Pine Center in Wexford. I had scheduled the appointments on that day, because we were supposed to be off from school. However, we were then scheduled to have school that day as a snow make-up day. Then, that day we received a blessing that school was cancelled, which meant that I wouldn't be taking an unpaid day to take off for the appointments. It also meant that Jason could bring Celtan home after his Dermatology appointment in the morning, and that I wouldn't have to manage Celtan and Elizabeth all day at CHP. I knew that either my dear mom or my lovely Aunt Susie would be with me on that day to help, but it obviously is never ideal to have to entertain an energetic 4 year old boy at the hospital all day. Thankfully, we didn't have to. Jason brought Celtan home with him after the Dermatology appointments, and Mom and I took Elizabeth to CHP for her remaining appointments.
Our first appointments that day were at the Pine Center in Wexford at Children's Dermatology. We saw Dr. Kress. Elizabeth and Celtan both had appointments that day. Celtan has been seeing Dermatology for his eczema since he was about a year old. He is currently on a combination of allergy meds, anti-itch meds, steroid creams and moisturizers that are doing a remarkable job of keeping his eczema under control. We had an appointment with Elizabeth that day about the ever present rash on her cheeks. She has had this rash on her cheeks since she was just a few months old. It has continued to spread and grow, and it has never gotten better no matter what kind of cream or ointment we have used on it. It also flares up whenever she is sick, and it even sometimes looks like it is blistered or ulcerated depending on the flare-up. Dr. Kress looked at her and said that what she had was called Keratosis Pilaris (KP), and it is a form of eczema. It is known to be on your face, arms or butt, it runs in families, and it also is known to flare during illness. There are creams to treat it, and so he gave us some samples. So, now we know what the facial rash is on Elizabeth. It is the only place that she has the rash, and hopefully we can find a cream that will treat it. Elizabeth also has issues with sensitivity to sunlight. When she is exposed to the sun, even a tiny amount, she develops red rings around her eyes that look like a severe sunburn. Elizabeth's team of doctors wanted Dr. Kress to give his opinions on Elizabeth's skin and her sensitivity to sunlight. Dr. Kress agreed that her skin is very translucent and hyper-elastic, which means that her veins are very easy to see through her skin and that her skin is very stretchy. Dr. Kress also said that based on the appearance of her skin and other clinical symptoms that he would like to order a few blood/ urine tests to test Elizabeth for porphyrins, which are responsible for a series of disorders known to cause sun/ light sensitivity. The issue is that we have to wait for the sun to come out again, and wait for her to have a reaction to sun/ light exposure, because the testing has to be done while she is having a reaction. So, Dr. Kress wanted to see her in two months to see how the treatment for her KP was coming along, and he will order the lab work at that time. So, once we have the lab orders, and she has a reaction to sunlight, then we go straight to the lab and have them drawn or taken for the testing. We are going back to see him in April.
We left Wexford and headed to our next appointment at CHP with the Developmental/ NICU Follow-up Clinic. Elizabeth has been seen by them every 6 months since she was born. This division is provided partially through a grant, and it is intended to serve as a tool to monitor the development of NICU babies after they are discharged and sent home. It is very helpful, but this appointment is always very difficult for me. Those of you who have been following since I started the blog may recall that it was at our NICU Developmental Eval appointment in August 2014 that recommended an appointment with the Cerebral Palsy Clinic for further evaluation. At the eval, a team of Developmental Psychologists and a Pediatrician conduct an assessment on Elizabeth to assess her overall progress towards developmental milestones in the areas of cognitive development, receptive and expressive language, and gross and fine motor skills. While we cherish any accomplishment she makes, and we have come to terms with the fact that she accomplishes things on her own time, we do know that she is delayed. This is very clear to anyone, especially when she is around other kids her age and even younger than her. Typical kids Elizabeth's age, and kids younger than Elizabeth, do a lot of things that she does not do, does not attempt to do, and that we aren't totally sure she will ever do. That's ok, though, that's what makes her a miracle and makes her special. However, in these evaluations, as I watch her not be able to complete tasks over and over again, it is disheartening, and every single time this appointment ends with me being in tears. The team always tries to comfort me, and then I feel totally lame and weak for crying in front of them. They always discuss the results with me, and this time Elizabeth's scores dropped in every category, except they remained the same in receptive language. The point is that although we see her making a lot of progress, and the clinic team even acknowledges they have seen amazing progress even since they saw her last in August, the test and skills required for her age keep growing while her skills in those areas are not necessarily growing at the same rate. This is why her scores drop, remain the same and do not show growth, and it really boils down to the fact that she is severely developmentally delayed and is not developmentally close to her same age or adjusted age peers. Deep down, we realize this. I realize this. It doesn't make it any easier to hear or cope with, but it also just makes us love our little miracle even more. It makes us appreciate the hard work that she has to put in, the motivation she has, that enables her to accomplish any of her milestones. She will be able to follow-up one more time in this clinic, and then her team will determine which clinic should continue to monitor her development. NICU graduates can only be followed by this clinic until they are 2 years old, adjusted age, which is why her next appointment will be her last with this team. The objective measurements of her development although heartbreaking and tear-jerking for me are actually a very helpful tool in monitoring her development. Hopefully, in 6 months we see at least improvement on some scores, but if not we will keep plugging away and appreciating the achievements as they come.
Our last appointment that day was with the amazing Dr. Amy Goldstein. I affectionately call her, "The Brain," because she is our clinical brain, our neurologist, and she has been immensely helpful to us in a diagnostic sense. Even though we don't have a diagnosis just yet, she has been a driving force in helping us to get there. Dr. Goldstein is brilliant, compassionate, personable, and everything that you want as a doctor on your child's medical team. I just love her. Anyway, she checked her out. We reviewed symptoms, recent appointments and developments. I told her about the benefit and all of the generosity that has made taking Elizabeth to Boston and UCSF possible. She is thrilled that we will be taking Elizabeth there this summer, especially to see Dr. Sherr at UCSF. Then, we talked about the Microarray Genetic Testing, because the results were back. Genetic Testing is a bit of a gamble, which is one reason why insurance companies are so reluctant to pay for it. We have known all along that we would have to fight to get the insurance companies to pay for the test, and that even after the fight that these tests may not tell us anything. The reason is that the Microarry and Exome sequencing available only test for known variations that cause known genetic disorders. The realm of genetics is constantly evolving, and geneticists are always finding new genes that do things that we never knew about before. This is one reason why we may not have answers any time soon. We have known this all along, and we are hoping that we get answers from this testing that we are fighting for with the insurance companies. However, Elizabeth is a medically complex case, and although she has a variety of medical diagnoses, conditions, anomalies and many delays, the testing may not give us an answer or name a syndrome that will explain all of her symptoms and medical complexities. It doesn't mean that she does not have a syndrome or a genetic condition, it just means that as of this time the doctors don't KNOW what it is and they don't have a NAME for it. There are thousands of families in this position. There is clearly something wrong with their child, and the medical professionals all agree on that, just like they do with Elizabeth, however, at this time there is no answer for them, because medical research and technology and testing hasn't found or given a name to that answer yet. So, families like that and like us are in a holding bay of sorts waiting for answers. We are essentially waiting for medical knowledge and research to catch up with our mystery kids. It is no wonder why we call our kids who fit into these categories "special." They are special indeed. So, the position that we are in now is one without answers, because the Microarray was negative. We have known, and her team of doctor's have expected, that the Microarray was probably going to be negative and additional testing would have to be ordered for Elizabeth. Their predictions were correct, and now we are petitioning the insurance company to pay for a genetic test called "Exome Sequencing." This was actually always our plan, because even if the Microarray had come back with a positive result for some kind of genetic syndrome, the Genetics team wanted to order Exome Sequencing to learn more about the Microarray results. Now that the Microarray was negative, we really need to have the exome sequencing done to have a chance for answers. We also realize that even if we are granted the exome sequencing from the insurance company that we still may not have answers, because it is highly likely at this point that whatever syndrome Elizabeth has that it is either unknown at this time or it is very rare. Dr. Goldstein has a really remarkable way of explaining things, and here is how she explained the difference between Microarray Testing and Exome Sequencing. She uses an analogy about books. Dr. Goldstein says that a Microarray is like taking a Harry Potter book off of the shelf and noticing that Chapter 7 is listed twice in the table of contents, or that there is not a Chapter 2 listed because it skips from Chapter 1 to Chapter 3. It is a broad, quick glance at a person's chromosomal composition. Are there too many of one chromosome or is one missing? However, in some cases (like Elizabeth and other rare and complex kids), you look at the Table of Contents and the chapters are all listed in sequential order. There are no missing or duplicated chapters. However, when you go through the whole book, you may notice that pages are missing. For example, as you are reading you realize that the book is missing pages 10 through 25 and later on is missing another 30 pages at the end of the book, despite the fact that the table of contents looked intact and correct. It is for these rare and complex kids that the Microarray is inadequate and often inaccurate, and it is also why for these kids exome sequencing is necessary. So, Elizabeth's team of doctors at CHP has sent a request to the insurance company with medical documentation and reasoning as to why the Exome Sequencing is medically necessary. We now are waiting for their answer, and if they deny it, then we will appeal as we did before. The test itself will take about 14 weeks to get results sent to us. Dr. Goldstein said that they wanted to know if I wanted a job there. We won Elizabeth's Microarray on the first appeal, and according to the doctors this is a rare occurrence. So, they asked me on my end to keep up whatever I did before to help with the Microarray appeal, and I fully intend to do that. So, I will begin calling UPMC next week to check on the status of the Exome request. Hopefully, the exome sequencing brings us answers and a diagnosis. However, if it does not, we will be like thousands of other families who will be waiting, waiting, waiting, and so we will wait along with them. One day, we will know what this is, and what has caused all of these medical and developmental issues for our Elizabeth. We wait in anticipation of that day.
In other brighter and happier news, Elizabeth is continuing to progress with her crawling. She has even been trying to pull herself up. She is not steady enough to remain standing for long, and she often doesn't know how to get back down to a seated or crawling position safely, so we have to be close by to help her and make sure she doesn't get hurt. It is really great to continue to see her make progress in this area. She also has been wanting to sit on the floor and play with toys lately, which is another development.
Also, both Celtan and Elizabeth have been matched with runners/ athletes through IR4. I Run 4 Michael and I Run 4 Siblings the Unsung Heroes are organizations that assign athletes/ runners to special needs children and their siblings. Their premise is to run for the people who can't, offer support to the siblings of special needs children who often get pushed to the side and are the unsung heroes, and to provide relationship building, inspiration and support to special needs children and families. Their website is
http://www.whoirun4.com/about-ir4/ if you want to read more about this wonderful organization. Celtan has been matched to Susan Osborn through the IR4 Siblings the Unsung Heroes Group, and Elizabeth has been matched to Robyn Oliver Cabaday through the IR4 Michael group. We have made contact through Facebook with both of these amazing women, and we are looking forward to building relationships with them. I hope that you check out the IR4 website, because it is a really wonderful organization. Celtan is very excited and had lots of questions for his match, Susan. He truly is Elizabeth's unsung hero. He loves and adores her. He is always cheering her on, and truthfully he does get pushed aside sometimes due to the care and attention that she requires. We will keep you updated on our relationships with these two ladies. We graciously welcome them to our journey and to Team Elizabeth Jeanne.
I'm also going to create an additional post with updates on the benefit. We have several appointment days in March, so I will update the blog after those appointment dates. March will be a big month as a follow-up swallow study is scheduled, and the G-Tube verdict will likely be rendered at our GI appointment. Thank you, as always, for reading and for being a part of our journey. Elizabeth is stronger, we are stronger, and we are so grateful for all of you. We love you all!!! Here are some pics of our Elizabeth!
