I am married to Dee for 16 years and we have two children, Stefan (13) and Jana (10). We cannot trace any family history of duchenne and believe it is a new mutation.
Stefan have deletions of exon 3 to 6 and I would like to know whether certain deletions have similar paterns/progression in different children.
It is difficult to be in a small country like South Africa as there are a limited number of families coping with this, but I have met some on this wonderful site. My family and I also trust God implicitly and no matter what the future hold we will survive and His grace is all we need.
In November 2008 Stefan started using a manual wheelchair at school and in February 2009 we bought him a four wheel electric mini scooter. In September 2010 Stefan stopped walking , I am glad he was able to walk until after he turned 15 in JUne 2010, however it is very tough on him and us- but God gives us the strengh to face each new day.
I have become very involved in the MDSA and urge all South Africans to join as well for infor go to www.mdsa.org.za. Together we can make a change. I visited the PPMD confernece in Denver in 2010 and am hoping that I can go again this year in July 2011. I am thinking of taking Stefan along if I have enough money.
Name(s) of child(ren)/individual(s) with Duchenne:
Hello Jan & Family: We just joined this site which we are so happy to have found. Our son is also 13 and has a deletion of 3 thru 6. He just turned 13 last month. So far he is doing very well...Would love to hear from you about your son...Will return response later as I have a commitment to attend to. Kathi
Hello Jan - I picked up your comment to Chris & Patricia du Toit re your son sees Dr Smuts @ Pta Univ. Ethan had his muscle biopsy done by her 6yrs ago. I wonder if you would know if Dr Smuts & Dr Gregson particpates/is aware of the Duchenne Connect project? Why I'm asking is that the Dr's info is req'd on the registration form as the Clinical info is then loaded into their database for research/trials. We want to have Ethan's DNA done & need to know if Dr Gregson does the " full length gene sequencing which is required for the PTC trials? Also, we need to know the "mutations" and "deletions" Does Dr Gregson do all of these tests? Also, how long does it take for the results?Any information that you could provide would be appreciated. Many thanks,
email address if this is easier for you? firstname.lastname@example.org
Our prayers will make a difference I am sure even if we don't see it. Please send me your private email address to email@example.com with your specific prayer request. I have already sent out a prayer sheet with our group and would love to add you.
I'm so glad you have joined the Christians with DMD/BMD group! This is a wonderful way that we can support our brothers and sisters in Christ who share this diagnosis. My son, Andrew, is 12, and has a deletion of exons 8-18. I enjoyed looking at your pictures. It's interesting how many of our boys seem to love dogs!
My best to your family!
I cannot tell you how thrilled I am to have your join our Christian group and that you are from South Africa. We are united across the globe through a common bond in Christ and MD. But one day we will see each other face to face - isn't that wonderful to imagine. Please make sure to join the group deletions which might help. We live in Burbank, California which is on the West Coast of the United States. My son Jared is 7 and has BMD. He has duplications of exon 27-28 and I am a carrier but there is not family history. You will find there is no pattern of progression that is similar. Just like each person is unique, so is each case of DMD/BMD and not one child progesses the same. But our hope is in Jesus and the fact that by knowing and having faith in Jesus, that they will live in eternity with him and this disease will be gone forever. Yes, I still pray and hope for a cure now but we know God has a purpose in all this even though it is hard to see. I am glad to see you have met another family in your area-that is wonderful.
Dear Jan, I see that you also live in Pretoria. Where abouts are you? Our son Bernard was diagnosed with DMD on 30 November 2006. We also went back in our families and could not find anything. His CK was 12700 and they could not find anything in the initial testing, so the doctors needed to do a muscle biopsy. We still do not know whether he has deletions, mutations or duplication. We requested WITS Genetics Lab to do other test on his DNA. He can still walk and he goes to physiotherapy once a week. He goes to the hart specialist Dr Colyn at Unitas and Dr Halkas he is the lungspesialist once a year. He goes to Dr Lippert every 6 months. (he diagnosed him). He takes pulmison every day together with Concerta (for ADHD) and captohexal for the bloodpressure.
If you don't mind me asking you a question. When did you felt best telling your son about his illness and how much did you tell him? If you send me your e-mail address I can add you as our friend. How did you go about finding out which deletions of exon 1 to 6 he has? We were told at first that the testing could only be done overseas? Apparently WITS Genetic Lab, Dr Nerine Gregerson told us in this last week that they do have new tests at the lab which could test for deletions of duplications? Do you perhaps know anything about it? Thank you very much, speak to you later.