Dermatology, post surgery update and The Cape

Dermatology, Post-Surgery Update and The Cape

Well, it's been a little crazy around here lately.  However, it has been a quiet month for Elizabeth, because we have only had one doctor's appointment this month.  I can't remember the last time we had a month with only one doctor's appointment.  

We saw Dr. Kress at CHP Dermatology on Tuesday, April 14th. This was a follow-up appointment from our visit in February about Elizabeth's rash on her cheeks and her sun sensitivity issues.  We have been treating the Keratosis Pilaris (KP), which is a form of eczema, with a type of cream recommended by Dr. Kress.  The KP on her cheeks is much improved, and it really only shows up when she is not feeling well.  So, the plan is to continue treating the rash and hope that it continues to improves so we don't have to up the course of treatment with steroids,etc.  

As for the sunlight sensitivity, Dr. Kress believes that her symptoms describe a series of disorders called "Porphyrias." Porphyria disorders are rare and they are caused by enzymes not working properly to produce porphyrins (these help to form many important pigments in our bodies) and heme (responsible for the red color in red blood cells) in our bodies.  They often present themselves as neurological or skin problems, especially a sensitivity to sunlight, but sometimes you see both symptoms.  Dr. Kress suspects that Elizabeth has a Porphyria disorder due to her sensitivity to sunlight and her various neurological problems. He also explained that she could have one of the Porphyria disorders in conjunction with other genetic disorders/ diseases/ etc. that they are testing her for through the other various departments at CHP.  Dr. Kress had to order additional blood work to test her for some of the markers and identifying factors for the Porphyrias, because surprisingly with all of the blood that she has had drawn, she has not had the necessary testing done to test for the Porphyrias. So, I plan to have the blood drawn when we are at CHP in May for one of our various appointments next month.  She'll just get to earn extra beads for her Beads of Courage. ;-)

In case you are wondering what I mean by Elizabeth's sensitivity to sunlight issues, let me explain.  Since Elizabeth was born, we have noticed that she cannot be in direct sunlight for very long periods.  In fact, she will have a reaction to sunlight sometimes with as little as 10-15 minutes of exposure.  So, I have always had to keep her body covered up, and wear a sun hat on her, and use sunscreen.  She gets big red rings around her eyes and blotches on her skin that look like a bad sunburn that is about to blister. The redness disappears anywhere from a few to several hours after she is removed from exposure to the sun.  The first few times that it happened, it was very scary.  However, I've asked the doctor's about it, and it has always been a "mystery," which is why we were sent to Dr. Kress for some insight.  It could be that she is simply sensitive to sunlight.  Her skin is pale and thin, so that plays a role, obviously.  It could also be that she does in fact have one of the Porphyrias. The blood work and outstanding genetic testing will tell us for sure. It is just one more answer that we will continue to wait for and will face once we get it.  In the meantime, we will just hope for the best. 

Elizabeth continues to do well from her surgery.  She has been sleeping a little bit better, until recently as she now has a cold.  The runny nose started on Thursday.  So far, we don't have a fever or a cough, but she isn't her happy self.  We recently had a nurse start coming to the house to help with Elizabeth's care.  She is wonderful, and her name is Ann. I'm really happy to have her help, and she is amazing with Elizabeth. Elizabeth has been showing much more strength and is definitely more at ease.  She has been crawling all over the place, starting to pull to stand, cruise around the couch, etc.  It is amazing to see her do these things.  I love being here to talk to and watch all of the therapy sessions. Not only do we have an amazing team, but it is great to see how she has made so much progress from their amazing work with her. Elizabeth also is finally slowly gaining weight.  She has gained a total of 12 ounces since her surgery on March 30th.  Progress is progress no matter how slow. The consistent nutrition and the fact that even if she refuses that she still gets her food has significantly impacted her strength. I like to think that her being more at ease has to do with me being home with her.  She loves to cuddle, walk towards me in her gait trainer, smile at me. Honestly, her smile, even it is 1 am, is one of the best things ever.  Celtan has an amazing smile too, and he is so good with Elizabeth, and she adores him.  I love being here to watch them grown and interact together.  It is truly amazing. 

There are some other things that we are seeing in her that are of some concern.  We have been noticing a change in her muscle tone lately. Elizabeth is becoming more and more spastic in her motor movements, and this is causing her to have some difficulty in her moving her limbs, keeping them still, etc.  This is one of the reasons why the Cerebral Palsy clinic doctors ordered her leg braces to help counteract the spastic movements in her legs to create greater stability while she is standing. She also sometimes has difficulty putting her hands together even to clap due to the spastic movements in her arms.  These changes are hard for us to watch. While we are glad to see her increase her strength, grow and do more and more things, it is hard to see her inability to control her movements. There are treatments for spastic movements, but they would negatively impact the low tone that she has periodically and in the other areas of her body where she consistently has low muscle tone.  So, right now, treatment for the spastic movements is not really an option.  Why we are starting to see this is unclear and could be due to a variety of reasons. It could be changes in her brain, it could be changes in her nervous system, it could be a lot of things.  We may be able to treat it.  We may not. So, as always, we will watch, wait and monitor and hope for the best.  

On an awesome and exciting note, my friend and colleague, Jen Kramm, nominated Elizabeth to receive a cape from Capes for Heroes.  I am very pleased, excited and honored to announce that Elizabeth has been officially named a superhero, and Capes for Heroes has sent her a handmade cape especially for Elizabeth. I put the cape on her, and she smiled.  She just loves it!  What an awesome program.  

Also, a huge thank you to our secret angels who continue to send us cards, gifts and little things to brighten our day and to ease the burden of my unpaid time off.  You will never know how much we appreciate all of it. It means so much to us.  Also, thank you to those of you who are continuing to send contributions towards Elizabeth's travel fund, the benefit, etc.  It is truly incredible, and I am working on sending out thank you cards for the benefit, but I'll never be able to adequately thank all of you for your love and support. I would like to thank Suzan Graham for the totally awesome set of Thirty-One Gear that she sent to us for our trips this summer!  I'm so excited to use all of these beautiful items. Lastly, I would like to thank my amazing friends and family near and far who have been getting me out of the house, calling, and texting to see how things are going.  It means so much to me.  I'm especially looking forward to a girls weekend near the Ohio Pyle area next weekend and to seeing the original Elizabeth (Lug) as she is home from NYC to help her amazing sister Laura care for their mother, Monica, as she just had surgery.  Their family is near and dear to my heart, and as you pray for Elizabeth, I'm sure they would appreciate some extra prayers for a speedy recovery!

Speaking of needing prayers, there are two other families near and dear to my heart whose daughters are fighting some very serious battles.  These beautiful girls, and their amazing families, have been through hell and have come back time and time again fighting like warriors.  I admire their strength, honesty, and love for each other more than they know.  We pray for healing for Sydney, Bella and their families every night, and if you have some extra prayers to send I'm sure they would appreciate them.  As a parent of a special needs child, you walk a path that is different and often lonely. I am appreciative of the bonds that I have formed with the amazing parents of other special needs children.  No matter the battle, we understand and are there to support each other.  So, please continue to think of them, if you don't mind saying an extra prayer or two. 

I have mentioned more than a few times in this post and in previous posts that we will wait and hope for the best.  People have often remarked to me about how I'm so strong, how they admire how we are handling this, and I often don't know what to say in response. There are times when I cry, when I'm up late at night unable to sleep because I'm full of worry, times when I need a drink by 9 am, some days I'm so overwhelmed to even be around normally developing kids.  I'm not always strong.  I cry. There are days when I want to scream or throw things, to be completely honest, even though I don't do that because it doesn't solve anything.  However, I always try every day to find some kind of silver lining, to find one thing that gives me hope or happiness or reminds me of the wonderful blessings that surround me.  Whether it is a smile from Elizabeth, Celtan's laugh, the fact that we are about to celebrate a second birthday with a baby girl that I wasn't sure would ever even make it here alive, or the fact that I'm really surrounded by some really incredible people, I make it my mission every day to find something to be grateful, and that is how I stay strong and feeling blessed and hopeful.  It is not always as bad as it seems, and it could always be worse.  I count my blessings, and all of you who read and follow Elizabeth's story are among those blessings.  

There will be a lot of updates in May, as we have a lot of appointments, etc.  So, be on the lookout for updates.  Oh, and Elizabeth got new glasses... they are lavender!!  (Thanks to Amanda at Dittman Eye care for ALL of your help!)