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Donna Cicardo Female Fort Worth, TX United States: Favorite

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About me:: I love my husband and my children and my mom, dad, and sister. I try to be there for them always. I would do anything for them.

About my family:: My son is funny, tries to prank you, and is a good boy.
My daughter is very lovable, stylish and loves everyone.

At 1:30pm on January 17, 2013, StaffAnn Martin said…: Hi Donna, Feel free to email your genetic testing questions to me at ann@parentprojectmd.org.

Thank you,

Ann Martin

At 5:24am on August 31, 2012, Cynthia Baldwin said…: Hi, Donna. Does your son have an Exon 2 duplication? My two grandsons were just diagnosed with DMD with and Exon 2 duplication. We live in Missouri. How can I privately communicate with you? My name is Cynthia Baldwin and I have joined PPMD. I'm trying to find some support on here and when I did a search on Exon 2 duplication, some of your discussions came up. I would really like to talk to you and find out if there is much going on with research to help those with Exon 2 duplication. Thanks so much.

At 11:14am on January 7, 2012, semra inanç said…: Hı donna,

Our doc wants to look at his blood and urine test for evaluating B12 metobolizm. if you can get to your son 's blood test for B12 level and your son has high level B12, you can be interested with this knowledge. Our doc wants to organic asid in his urine, and blood works for Tandem MS carnitin and aminoasit profil tests for checking yiğit's B12and methionin metabolizm. May be this is important for your son as much as my son's condition. What is your oppinion?? I would like to know answer this question?? Please share your thought with me

Best regards, And

happy new year

semra

At 8:34am on December 13, 2011, semra inanç said…: Dear Donna,

B12 deficiency or high B12 cause some problem on the human metabolizm. My son has high level B12. my doctor has thought about B12 not come into the cell although we don't give him any supplement for increasing his B12 level. Why we don't know. Doctor has researched about it. And also my son has loose gaita sometimes diarrhea when he was earlier age. This a type of metobolic sendrome. After muscular distrophy diagnosed, Our child norolojist gave us kortizon 5 mgr./day. prednizolon. When we gave him prednizolon, he had thyroid resistance.This mean is if somebody has thyroid resistance all hormonal tissue gets down. including cortisol mechanizm. He has taken some medicine for regulating his thyroid. This pills give him more energy and fat metabolizm get fast.This is very very comlex structure. every symptom with related eachother. İn my oppinion, doctors has not enough knowledge about all gene mutation phenotypes. Lots of patients has different symptoms. Finally, I have thought that our son need specific assesment.

İf you want I can give you my doctor name. His office is in Spain. He is kPNI specialist.

Please contact to me. my e-mail adress is smrnnc@gmail.com

With regards

Semra

At 2:38pm on December 12, 2011, semra inanç said…: Hı Donna

My son has exon 2 dupl. like your son, I have a question for you. Please could you check his medical report, he has any problem about high level B12. İf it is; This means that could be his B12 not come into his cells. My son HAS this problem. My endocrine doctor wants to know that other child who has exon 2 duplication on dystrophin gene have the problem?????

This situation could be very important for us.

I will be waiting for your answer

Thanks

Semra

physical therapist from Turkey