I am the mother of Jase who is 14 mos old and he was diagnosed with DMD when he was 51/2 mos old. After a struggle in the NICU for 5 weeks and after much extensive testing they finally diagnosed him with congenital adrenal hypoplasia wich is a rare adrenal insufficiency which is also an X-linked chromosone disorder so being DMD and glycerol kinase deficiency are also x-linked doctors thought it would be a very good idea to go ahead and to some more extensive chromosome testing to rule out the possibility he could also have DMD and glycerol kinase deficiency due to the fact they both are in conjuction with the adrenal hypoplasia gene but the doctors really thought he would only have just adrenal hypoplasia itself being it is so rare to have anyway and that to have all 3 issues would be extremely rare but to our dismay the test came back positive for DMD and glycerol kinase deficiency which so now we are treating all 3 issues and jase seems to be doing good inspite of what he has. i would love to talk with other about his ondition. It is a complicated diagnosis and trying to understand all there is to know about each individual issue is hard. this is just a summary of what he has but how all 3 issues are related genetically is interesting yet difficult to understand. I (his mother) was tested to see if i was a carrier of the gene deletion and i tested positive so my other 2 boys had a 50% chance of getting it and my daughter has a 50% chance of being a carrier so eventually we will need to have her tested. these issues are the cause of a gene deletion on the xp21. please feel free to ask questions
About my family:
my husband and i have 5 children who keep us busy and on the go. we have 4 boys and 1 girl. we love to hang out as a family and love to attend sporting events in which my oldest son who is now 14 is much involved in. we live on a farm and enjoy the life. we are asjusting to the diagnosis of our youngest child who we found out has DMD and also other related health issues which he was born with. we have lots of fun together and enjoy working together.
Name(s) of child(ren)/individual(s) with Duchenne:
Age(s) of child(ren)/individual(s) with Duchenne:
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Hi Kasey, My name is April we live in Bigfork Mt. I was very sorry to hear about your son. We also have a son Ty who is 5 that was diagnosed with DMD. We've been trying to locate other families in Mt. to see about parent counseling. I want you to know that if you need an ear or to vent let me know.
Kasey - we live in Seattle and my husband is originally from Butte. I would be glad to share DMD care info with you. We go to Dr. Wong in Cincinnati, OH I am sure you have read about her. The biggest thing you can do for your son will be putting him on a steroid but he is too young right now. It's a personal decision so can't really say that you should.
Please join the WA families - we are going to change it to NW families.
Char Burke - Seattle