Monday, September 27, 2010

The Elephant In The Room (aka the diagnosis)

It's been a week since we found out. We got a call last Sunday (the day after her birthday) from the metabolic geneticist. He tried to make some small talk about her birthday but we knew it wasn't a good call. We headed in the next morning for the news.
Amber's last set of blood tests came back positive for one of the Lysosomal Storage Diseases called Mucolipidosis II or I-Cell Disease. They really tried to give us the best case scenario for her but unfortunately this is a progressively destructive disease. Right now Amber is probably the best she will ever be. Everything that  she's been struggling with from the beginning will not go away but actually continue to get worse over time. There is no cure and we can only treat problems as they arise to make her comfortable. The worst part is they told us not to expect her to live to age 8. Right now they are retesting it and doing more tests to see how sever she has it.
This is a rare disease but there are some experimental treatments we could try with her. The major one is bone marrow stem cell transplantation. It's extremely intense and really doesn't do much, it might slow down the progression but in the end everything will be the same. The transplantation will also not stop the progression to her brain. All the possible treatments we could try are intense with a lot of negative side affects. It's a hard decision to make if we want to put her through any of this with no promise that it will do anything. At the same time not doing anything makes me feel like I'm being a bad parent to her. We haven't closed the door to anything but it's definitely something we need to pray, talk about and get more counseling from Dr.s.

How does this affect whats going on with Amber now? Well, it seriously complicates things even more, to put it simply! We have been setting up Amber's chest expansion and heart surgery for sometime this fall. Now we're not sure if this is going to happen or not. Amber's disease is a progressive thing so her chest and heart would not heal right. They would continue to cause her issues and would continue to need more surgery to keep on correcting them. The other major issue with the new diagnosis and surgery is with intubation and anesthesia basically it's not supposed to be done and can cause a lot of serious issues. We aren't even sure at this point if they would still let her have these surgeries. It's a really hard thing to deal with when the last news we heard from the Dr's who want these surgeries done was that if she didn't get them they would be what gets her or at least whats going to really hold her back. The heart one at this point I'm not too worried about because she still isn't showing day to day signs that it's causing her any problems. The chest expansion one is what I'm really struggling with. Even with the inhaler and more oxygen at night Amber is still desating a lot more every night and each night it's a lower number. I have a feeling that this is going to be a no win situation.
This also means we get to see some more new specialists! On Friday we see a neurologist to discuss Amber's skull, upcoming brain MRI and probably the neurological affects of I-Cell. Then we have a magical week off but I'm hoping Amber's glasses come in and to get an appointment with the pulmonary specialist. After that we see the new cardiologist to discuss the heart MRI and if we can do surgery. The next day we'll see the ophthalmologist again to see if her cornea clouding has progressed in the month and a half and how her glasses are working (if they're in by then!). Finally at the end of October we'll have her two for one MRI and see people all over again to talk about the results. November is orthopedics and endocrinology to see if they can help us at all, I'm very skeptical of the two of them. At some point we'll meet with a neurosurgeon to check out the integrity of Amber's spine, especially her neck bones and talk to them about possible things we hope to never actually have to go through. The end of November we'll see the metabolic geneticist again to see how things are progressing and if there is anything we can do.

This has all been really shocking and rough for us. Like usual we're taking it one day at a time but it's still not easy to talk about or tell people about.


  1. Oh Mommaskye .... I've spent a good part of this morning trying to think of something/anything to say but to no I hope you'll understand if I just quit trying for now & lift your family up in prayer instead. I'm so sorry.

  2. I love you Luke, Skye, and Amber...
    ♥♥♥♥♥ Praying God's presence and guidance will be very evident to you. You are always in my thoughts and prayers. May God hold you very close in His everlasting arms.

  3. I'm always always always thinking of you.

  4. Skye, we have never met but I have known Luke since he was born. My family and the Amick's have been good friends for a long time.
    I wanted you to know that I am praying for you, and every time I read your blog, I am amazed at the wife God has bless Luke with.
    I am praying that God draws you closer to each other and to Him through all of this. If it is okay with you, I would like to put your family on our prayer chain here in Utah.
    <3 <3 <3 from Utah, Jennifer

  5. Skye and Luke,
    We too know the Llewellyn side of the family. We have been praying for you all as well and will continue to do so. God is in control of this situation and will give you the wisdom that you ask Him for. I am praying for clear guidance on quality/quantity of life decisions and that you have peace in making these. Peace and Prayers from Colorado. Lynne

  6. I am definitely praying for you! *big hugs* If you ever need anything let me know.

  7. It is interesting to read the "Live Feed"! How encouraging it is to know so many people...from all over the country... care about our sweet little Amber. Please feel free to leave a note so we know who you would be a great encouragement to Luke and Skye!! Thank you for caring for Amber!

  8. I just want you to know that you are in my thoughts and prayers. I pray you will find that His grace is sufficient and that you will know His perfect peace because you are trusting in Him. Peggy Conklin

  9. Sometimes there is nothing to say but just being there says alot. I'm there. I am so proud of the momma you are! Absolutely incredible! I pray for you daily and often. You are all so dear to me. My heart is heavy. But to know that you can make each day count and make a lasting impact on those around you and to your own family to that sooooooooooo precious angel Amber you have been given. We all should live each day to the fullest b/c God says we do not know what tomorrow holds. Miracles can and do happen. I guess I had more too say then I thought. Love you more than I truly express.

  10. Hi Schuyler: I admire your ability to keep all those appointments straight! That is a job in itself! As a mom, I grieve with you over the loss of what a parent normally expects. God has given you a special ministry to Amber and through Amber. Look for God's special blessings each day even though your life as a mom is different from other moms. May God's glory be visible through the process He is taking you through that others might come to know Him. In His love, Anne K

  11. Schuyler,

    Just wanted you to know that we're praying for you. Remember that EVERY life is a FULL LIFE given by the Father above regardless of how hard it all is.

    Annette McEndarfer

  12. I'm a friend of Mary Butler's (and family) - we're praying for you!!