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 email@example.com
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, firstname.lastname@example.org
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 email@example.com.
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.