...and the wait continues!

I was so anxious to finally get answers, yet I walked out without an official diagnosis. My little BriBri is so rare that they still can’t figure her out! A few days ago on Thursday 4/17, I met with Brielle’s geneticist who has been great and very helpful along the way. He’s dealt with other children diagnosed with LSD’s, which has been great for us because he understands the urgency of the situation. He walked me thru the results, which he said surprised them as well. An enzyme assay test was done which is supposed to give the enzyme activity levels to help narrow down which LSD she may have. They were expecting to see results clearly showing enzyme levels connected to one of these two diseases. However, the enzyme levels came back normal for all but one, and even that one was very close to normal. What our geneticist was able to tell me was from the results is that it is highly unlikely she has Hurler (MPS I). It is more likely that she has I-Cell (ML II), but because her enzyme levels are too normal for I-Cell also, there is also the possibility that it can be a different LSD. 

We know she does have a LSD due to the damage that the disease is doing to her skeletal system, organs, and brain; but we still do not know which one. For now, the plan is to run the same tests again at the Atlanta lab to ensure that the results were accurate. However, they will also be running tests at a different biochemical lab in Philadelphia with a doctor that specializes in LSD’s. We will be at the PCH lab this upcoming Monday morning to have more urine and blood drawn from Brielle. It is very difficult to push these negative thoughts and worries away from my mind. Throughout this whole process my emotions have been a roller coaster. I walked out without a diagnosis, but what does it matter what the exact diagnosis is; it really doesn’t change the overall outcome. She has one of the LSD’s (Lysosomal Storage Disease) for which the end result is the same, very rare and fatal. From my research and observations; including talking to many parents affected with that disease, I knew whatever Brielle had was more severe than MPS I. 

I know every child is different; it all depends on the severity of the disease and how much it has affected their bodies. The delays and the damage this disease has already caused my little Brielle’s body is more than an MPS I child.  I don’t call her little Brielle for nothing; she is 17 months old and weighs 17lbs. That was not a typo…17 freakin’ pounds! I have struggled to get this munchkin to gain any weight during the last 8 months, it’s very difficult to get her to eat much food.  Her joint mobility is really bad; she cannot raise her arms above her shoulders, she cannot stand and she cannot bare much weight on her legs. With all of her delays she is considered a baby of 6-10 months. I can go on with all of her issues, but I’ll stop here. If you met her you would not think there is anything wrong with her unless you were familiar with these diseases. The one thing that gives it away is when I am asked her age.

I was thinking of lying about her age every time a stranger asks me that question.  She will forever be the 8 month old baby to strangers. Why not? It’s too long of a story to repeat and I may not ever see them again. It’s the harsh truth, but as human beings we are only aware of what we have experienced and something this rare is not experienced by many people. But… this brings me to the reason why I started this blog in the first place. I want to share her story, let people know about this awful disease. My little Brielle may not have a treatment or cure for her disease now, but one day I hope there is a cure.