Hı everyone. My name is Semra İnanç. I have a son who has exon 2 duplication mutation on his dystrophin gene.called muscular dystrophy. İn the mean time,I'm a physical therapist. We have been trying to cope with this condition. he is 5 and a half years old. He has good fonctional capacity now. We hope to protect his fonctional and emotional level.
About my family:
My husband and I have been married since 1994. We have two lovely boys. The big one(age:17) has not any disease. small one(age:8) is name is Yiğit has muscular dystrophy. We are living Istanbul/TURKEY.
Name(s) of child(ren)/individual(s) with Duchenne:
merhaba Semra Hanım bende sizinle tanışmak isterim.benim oğlum Tuncay 4 yaşında ve 45.eksonu hasarlı.sizinle olduğu gibi internet üzerinden tanıştığım ve görüştüğüm bir kaç aile var.size özelden iletişim bilgilerimi yolladım.dilerseniz görüşebiliriz.
He has not had a b12 done before. I will try to get this. His doctor does not like to order these. I will try his other doctor. I have read that b12 deficiency does cause urticaria. I will get back to you. I am going to start on b12 b6 and spmeother b vitamins as well as aminoacids. They presupposed to help with oxygenating muscle cells
Semra, Can you list all of your sons symptoms? my sons symptoms are weight gain, urticaria, angioedema, food allergies, diarrhea, nausea, stomach pain, small red bumps on skin (almost pimple-like), tingling or twitching pains, throwing up after urticaria. He has also had elevated white blood count, liver enzymes, elevated urticaria index, elevated platlets, elevated alt and ast, and high bun/creatinine. I think I am going to take Alex to an internal medicine doctor. I have tried an endocrinologist but I may have to go to a different one. If you can tell me your son's symptoms and if I find a doctor who know more about this I can give him your docs name or let you know what they say. Thanks Semra
Can you ask your doctor if B12 deficiency or high B12 levels cause chronic urticaria with angioedema. I have read this somewhere and my son has been having this since he was around 4 years old. NO ONE can tell me why. Thanks
I checked all of Alex's blood work. He has never had his B12 checked. Can you give me more info about this. We have taken alex to see an endocrinologist but we have gotten no where with him. We are going to be looking for a new one. What are your son's symptoms. How does the B12 affect him, with symptoms and such. Can you give me more info. I can tell you some things about Alex and how he has been doing. First, he seems to be progressing faster than we were told he would. He is now 11, he cannot climbs stairs, curbs, walks very slow and woddles like with a wide stance, his back is arched pretty far back. He has gained weight almost it seems uncontrolably. We practically do not give him much to eat because we are so afraid of him gaining more weight He is 4 foot 10 inches and weighs 118 pounds. He also has been getting alot of edema, urticaria, angioedema and no one can tell us why. he also has these stabbing twitching pains all over his body. He has been tested and is very sensitive to most foods. I think he has diabetes but some tests say he does and others say he does not. To tell you the truth, I just do not know what is going on anymore with my son. I just feel like I just keep getting told dont worry he will be fine but no one can seem to find the answers. So when you said something about the B12 I thought wait, maybe this has something to do with it. Can you ask you doctor what it is more that he is looking for. Please, please any info would be great. Sorry to go on, but finally someone has asked us something no one has ever even brought up before. I do know a little about B12 and that everything in the body needs it to survive and have energy. I will wait to hear from you. Thanks so much for contacting me.
Merhaba Semra Hanim - I am so pleased to see someone from Turkey as my husband is Turkish and we rarely see anyone with this disorder there. Our son is almost 8 and still functioning well. We would love your email address as we have so many questions about the care you are getting in Istanbul and to have someone to connect with in Turkei. Please email if you can at firstname.lastname@example.org. I really hope to hear from you. Sagol ye iyi gunlar.