Noah is doing much better today. Still no more fevers, his bronchiolitis is improving and today he was actually sitting up and playing in his crib. His platelets are beginning to come up on their own. His hemoglobin is still low, but no longer dropping. We are having a hard time keeping enough potassium in his body, as the Ampho B has been depleting his body of potassium, so he continues to get potassium boluses. Still no plan on how long we need to keep him on the Ampho, and so we continue to take it one day at a time.
However, we recieved some difficult news yesterday from the Metabolics doctor. They have diagnosed Noah with a metabolic disease, based on a metabolic workup that was done. The final bloodtest to confirm the diagnoses will take a couple of weeks, and so we won't know for sure for a while, but the doctors are quite certain from the high level of MPS found in Noah's urine that he has Sanfilippo Syndrome (MPS Type IIID). We are only just learning what this means, but basically Noah's body is missing an essential enzyme that breaks down a complex body sugar called heparan sulfate. The sugar slowly builds up in the cells over time, causing neurological regression and death usually in the teen years. It is a degenerative brain disease with no cure. So even if Noah is able to fight through all the health problems his chromosome deletion has caused and even if through hard work he learns to walk, talk and eat, there is this disease lurking in the background waiting to take it all away. This is so discouraging and just so very sad. I'm pretty overwhelmed by it all right now and it is so hard to try to look at the short term and not think too far ahead. Sometimes I think it's better not to know. And so I must ask "why God?". Does Noah not have enough to deal with? Does he really need a double whammy? It seems that we just manage to make it through a crisis, when another one is right in front of us. I know I will never understand these things and the future looks even more frightening right now.
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6 comments:
Oh Nichole, I just don't know what to say, except that I am so sorry. This battle has been hard on Noah, but it has been so difficult for you and Brad as well. We love you all so much, and hurt for all of you. May God give you the strength that yo need through all of this. HE is still in control, and he is holding you in the palm of his hand. I have to admit, Ihave asked God "WHY" so many times too. But I also know HE is the only one we can turn to. I also rejoice in the fact that Noah will be free one day, and that he won;t suffer when he goes home. You are in our prayers. will keep in touch. love mom
Nichole and Brad ,it must be so hard for you to see Noah suffer like that and try to digest all the news the drs. come up with. I'm so glad you trust in a God who knows what is best for us although it looks so grim to us. May this same God grant you peace as you know that Noah is in His hands and He will comfort and hold him as he goes through this life and then will be well forever with Him. Praying for emotional and physical strength for you, since you must be exhausted. I go to Wpg. to the opthalmologist on Mon and hope to pop in, if I'm allowed to.
Love, Emmy
Hi Nichole and Brad, sorry to hear the latest news about Noah. I must admit that I am saddened by what I read. Please know that God is in control. HE has Noah in the palm of HIS hand and HE will take care of him. My family and I will contine to pray for you all. Honestly, I can't imagine what you're going through, but we do serve the same God and we all know HIS capabilities.
I've never met any of you, but I do truly love you all!
Praying for your entire family and especially my buddy Noah!
~Rissa and family
Always in my prayers.
we are always praying. I can't imagine how overwhelming the news must be and it must be hard to grasp anything like this, but do remember, even though they say all this may happen, Noah has overcome many things that medicine and science said impossible. He isn't done yet and only God knows what is in store for his future.
We pray God's blessings over Noah's life, and your home.
We don't know each other but I have been reading your blog for a long time and praying too. I am not sure what I can say that someone hasn't already said but I just wanted to let you know that me and my husband are praying for you. We are asking God to hold Noah close and to give you a miracle.
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