Hi Chris & Patricia,
I don't know anything about the "deletions/duplications" so what exactly does this mean for your son's prognosis and was Dr Gregerson able to offer any advice? Have you been to the duplications site to compare with other parents whose son's have the same duplication? I'm sorry to have to ask these questions as I can only imagine how devastating the diagnosis must be for you & your family.
Thinking of you,
Thank you so much for Dr Gregerson's details. Will pass on the info to my daughter(she does'nt have Internet access!) Will be thinking of your family as you wait for your results. Please let me know. If email is easier for you, then my email address is firstname.lastname@example.org
Thank you very much! I have been by Dr Gregersen today that they will also find out what duchenne's Bernard have. Up to today we did not know if he had deletions or duplications. Now we must only wait and see!!
I promised to get back to you. The university of of the Witwatersrand, School of Pathology (Division of Human sciences) did the tests in 2003. I have a letter signed by Fahmida Essop the head of the Molecular Genetic Diagnostic Laboratory stating that Stefan has a deletion of 3 to 6.
I incorrectly believed that the tests was done in Cape Town and that the deletions was 1 to 6. Sometimes helps to go back to the source documents.
Hello Lesley, thank you for your response. Dr Nerine Gregerson is from WITS Genetics Lab, and they have new test which can be done via blood tests. I attached her details. She is very kind and always very helpful. Dr Nerine Gregersen, Clinical Geneticist, NHLS and Wits University, P O Box 1038, Johannesburg, 2000, SOUTH AFRICA,
(t) +27 11 489 9216, (f) +27 11 489 9226, email@example.com
Hope it will help.
Hello Chris & Patricia,
You have two beautiful little chaps!We also don't know what deletions,mutations Ethan has & likewise, would like to know who we go to to get the Tests done? I don't think my daughter would want another biopsy though.Can this be done through blood tests? I see Jan Ferreira mentioned Dr Smuts & also a place in C.T. Could you pass on this info as well please?
Ethan attended a special needs School but we have since taken him out & his Pre-School teacher (bless her) has taken on the job of teaching him "one on one" He uses a computer,as writing is a problem for him.
Hallo Jan, thank you for replying to us. My husband (Christiaan) and I have another little boy Christiaan (4), he does not have duchenne. Is Stefan going to a normal school? Does he also battles with sleep? We almost stay in the same area. Bernard is attending Rietvlei Akedemie. Bernard's muscle biopsie was also done by the Redcross Childrens Hospital in Cape Town, but the results did not tell us which deletions, duplication or nonsence mutations Bernard have. We are in Lux Mundi Church and have great support from our bible study group, together we really believe that God indeed carry us through everyday. Good luck, we will speak again.
Sorry for only responding now but the last couple of days was quite hectic.
I have not told my son all the detail of his illness and have seen the advice that you must just repond to their questions as they will ask the questions and seek the answers they need, apart from providing the basic information. My e-mail adress is firstname.lastname@example.org.
We live in Garsfontein Pretoria and Stefan gets "treated" by Dr Smuts of the Pretoria Academic university. She is a neurologist and one of the few "experts" in illnesses like duchenne in South Africa and has a number of boys she regularly sees.
Stefan's genetic testing was done by a place in Cape Town. I will send you the details as soon as I can find it.
Please send me your email address so that I can also add you as a friend too.
Kevin also battles to sleep, when the boys were young, they shared a double bed and now that Wayne is a teenager, they are in seperate rooms but Kevin says that he gets nightmares (not sure what type, he does not get upset) but cannot sleep, hence, my husband and I took turns lying next to him until he fell asleep. This got a bit much for my husband and when you wake up and get back into your own bed, you are exhausted the next day. It has ended up with me actually sleeping next to him now for the last year I would say as he used to wake up and see that we were not there and then he would come and wake you up 2-3 times a night. With one of us next to him, he feels you and knows you are there and goes to sleep. I have to make him turn the lights out at 9.30pm or 10pm to sleep and sometimes it takes a few minutes and he is asleep, other times he takes ages. We have now bought him a dog to sleep with him instead at his request, will see how this goes, maybe one day I will get my own bed back again. It takes a while but at the end of the day, we all get a good night sleep when I sleep next to him.
Have to go now, get the kids ready for school, hope you had a good night sleep.
Hi Jo-Anne. I hope you had a wonderful weekend. We had a wonderful experience on Saturday. We went to Loftus Versfeld, the rugby stadium for the Blue Bulls rugby, but this time it was not for rugby. It was a gathering for Christian people in Pretoria, to have a pray service for our country. There were over 70000 people there. It was awesome, amazing and you could definitely feel the presence of God. Mr Angus Buchan a "boer" farmer from Kwa-zulu Natal led the service and he is like a motivational speaker. He specially prayed for all the sick people in the world. For total healing. Any way I wanted to ask you if your son also battle to fall asleep at night. Our son went to bed after 24:00 for the last three days and he is already getting pale and tired. We send him to bed a 20:00 but then he can not sleep. He takes his one pil at 22:00 and fall asleep at 24:00. His little body is not going to cope with this sleeping patern. I have to say goodbey know. Nice talking to you again.
My email address is email@example.com. Kevin is also on prednisone tablets and I think it could be 15mg a day? I stand under correction. Please email me at anytime, your son's medication is completely different from Kevin's. You will also find under groups in this website above, there is also other chats about steriods. Hope to hear from you soon. Kindest Jo
Kevin is my youngest son and he was diagnosed in September 2006, the final results only came through in March 2007. I have an elder son Wayne who is not affected with DMD at all. I am surprised to hear that it is your eldest son and not your youngest. We will keep in contact.
Hi Patricia. Welcome to this wonderful website, here you will meet lots of lovely families. Please do not hesitate to write anytime, my youngest son Kevin has been diagnosed with DMD and he is about the same age as your son by the sounds of things.
There are a few more people from South Africa on this site too and this is wonderful to see.
Hope to hear from you sometime. Kindest Wishes Jo-Anne