Well I finally did it, a blog. My main objective is to advocate and raise awareness of DUCHENNE MUSCULAR DYSTROPHY. The Duchenne community is small but strong and very supportive, we are blessed to have been welcomed with open arms, suggestons and most of all HOPE!
Our Story begins as most Duchenne parents, our son got really sick. Janurary 2009 Nicholas was hospitalized for Pnemonia. His Liver enzimes were very high and had every test in the book done. When in the hospital Nicholas started limping, he complained his stomach hurt and his legs hurt. The stomach issue was addressed and he was referred to a Gastrointerologist. When he was released he was then referred to LPCH to a Hemotologist.
Nicholas was diagnoised with Bheta Thalassemia Intermedia (rare blood disorder) almost 4 months of hospital visits and appointments with tons of specialist. We thought we had our answer...but the hemotologist was not convinced the high liver enzime was related to the thallassemia. The GI decdided to do a liver biopsy, it came back normal....
One last lab needed to be done, I was told that most likely this will come back negative, just add the lab to his next blood draw, which was every few weeks due to the thallassemia, so we waited.
About one month later, we had our check with hemotology, and before you go to your apptointment they ask you for labs, so i added the lab slip......Nicholas hemotology appontment went well, still no answer on why his liver enzme was elevated and in the back of my mind I wasnt accepting "Maybe thats just him", I knew there was an answer weather i wanted to hear it or not it was out there.
The next day was June 2nd, I was doing some quick grocery shopping before picking the kids up from daycare and my phone rang, it said WITHELD, which ment one thing...it was one of his doctors. On the other end i herd a crack;ed voice, it was Nicholas' GI, She said I have somthing to tell you......The labs came back for Muscular Dystrophy and I cant tell you what kind, there are several and I have already made a referral for you to take him to see a Neurologist at LPCH. She said to me "I am so sorry and what ever I can do, I will". At that moment I dropped to my knees right in the middle of Savemart! I left my groceries and rushed to get my children.
As the days went by, my phone did not stop ringing, every doctor my son saw was calling. This scared me, was told not to google anything until we saw the neurologist.
Genetic test were done and sent to Boston, they came back quick (as per Neurologist, ussually takes 6 weeks, he called in 3 weeks). It was confirmed...DUCHENNE MUSCULAR DYSTROPHY, the leading genetic killer of boys!!!
It has been 4 months since we recieved his diagnosis and I am a wreck, but I am determand to do SOMTHING! I love my son and I will fight until the battle is won, until we END DUCHENNE.
I tried to edit this blog with spell check...didnt work, lol
ReplyDeleteYou are a remarkable mom, woman and now advocate for DMD. The world will know more and more about this disease and how it forms what to expect, etc. Though the outcome is relatively the same for all, each affected child is different. This is why you've made a difference in the world of informing others of your journey. Many of us special moms take to blogs, forums, boards etcs to find comfort, answers and understanding. Without one another we'd be alone so to speak. But with one another we form a strong bond and wall. And will be able to get through everything. Keep telling us your guys's journey, when you need help just ask we will all be here to support you and your family.
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