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Creatine Kinase Protein Test - Duchenne's?
Hello. I know I am not a regular on this board but I thought there might be someone who is that could help me. I lurk/post on the August 2011 pregnancy month board and thought that you all might be able to give me some insight. I am a carrier for Duchenne's Muscular Dystrophy and just had my baby boy on Friday. He had a 50% chance of getting the condition. They did a blood test on him called the Creatine Kinase Protein test (or something similar). They said his levels were high - I'm not sure what number. So this means he is likely to have to condition. But I was wondering how accurate these tests are and if we should be as upset as we are. I plan to start really lurking and posting here because I'm a special education teacher as well but right now I am so exhausted physically and emotionally from a c-section and the stress of worrying about my sweet baby boy that I just can't muster a "formal" introduction. Thanks in advance for any thoughts, ideas, hopefulness, or reassurance that can be provided.
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Re: Creatine Kinase Protein Test - Duchenne's?
52 Choices For Better Health
My son was diagnosed with Duchenne in January. His CK level was tested due to an apnea episode. The cut off level is something like 460. DS's level was 22,000. That prompted several other tests including another CK level which came back at 17,000.
Because DS is adopted and we didn't know much about birth mom's medical history we were trying to rule out glycogen storage disorders. Ultimately we had one more CK level drawn with the result being in the 13,000 range. That led the docs to do a muscle biopsy and the result confirmed DMD. DS is 14 months old now but was 8 months when we got the results.
I've been in denial since he is asymptomatic right now. But the delays are starting to creep in. Granted he was a 26 weeker and already had an uphill battle, but he should be farther along than he is with his gross motor milestones. He does roll both back to front and front to back, sit unassisted and is starting to pull to a stand. But he can't go from laying to sitting without help and he's not crawling, scooting or crusing yet.
I haven't done a lot of research, I'm still coming to terms with the diagnosis. But we do work with Early Intervention twice a month and DS is being followed by a neurologist who specializes in MD, specifically Duchenne.
Thanks to pp for the website. I am going to get some contact info from you since I live in UT and would love to meet another family in the same position as us.
Thank you all so much for the information. I will keep looking. We are going to Kosair Children's Hospital for further testing so we will see what happens.
pcefern - If you need to vent or talk, you can contact me at msjanyna5@gmail.com. Thinking of your family.
Thanks emeraldjl! Same for you. I try to check the board/lurk at least once a day so feel free to page me here. I'm still new to this whole message board stuff but you can PM me too and I'll figure it out.
Prayers for your family as well!
I am not familar with the accuracy of the CK test. I just thought I would post with a great resource for you. There is an organization called Darius Goes West. Here is the link:
https://www.dariusgoeswest.org/
They made an incredible documentary about Darius who has DMD. They also do fundraising in hopes of finding a cure. They also have a facebook page. They continue to travel the nation to raise awareness and funds for research.
In this multi-award-winning documentary, fifteen-year-old Darius Weems and eleven of his best friends set off across America with the ultimate goal of getting his wheelchair customized on MTV?s Pimp My Ride. The result is a rarely seen testament to the explosive idealism of today?s youth, as well as a vivid portrayal of adventure, of brotherhood, and of the character and strength it takes to shed light on an uncertain future.
Not only does Darius Weems bravely face his own inevitable fate with Duchenne Muscular Dystrophy (DMD), but through his unflinching humor and his extraordinary laugh, he sparks a revolution in the lives of everyone who crosses?and then shares?his courageous path.
There looks like there is some really good research out there right now. Here is the link:
https://www.globalhealthtv.com/news/v/first_targeted_treatment_success_for_duchenne_muscular_dystrophy/to/latest_news/
I hope that you find these links useful. If either of them don't work, please let me know! I will keep you and your sweet little boy in my T&P!