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Fumarase Deficiency : Beating the Odds - 6/7/2008 1:19:43 PM
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Someone I love endures pain and challenges that break my heart and renew my spirit at the same time. Someone I love is unable to advocate for themselves for things that most of us take for granted. Someone I love will never have the opportunities that every child should have. Someone I love encounte
Fumarase Deficiency : Beating the Odds
http://articles.familylobby.com/555-Fumarase-Deficiency-:-Beating-the-Odds.htm
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RE: Fumarase Deficiency : Beating the Odds - 6/7/2008 1:19:43 PM
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I enjoyed reading this article and I got a lot of information out of it. I pray they start research soon and eventually find a cure!
J.C.
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RE: Fumarase Deficiency : Beating the Odds - 6/8/2008 6:52:03 PM
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Thanks for the information.
Terry
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RE: Fumarase Deficiency : Beating the Odds - 6/25/2008 12:18:43 AM
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There is only prevention of this disorder, there will not be a cure. The research they have done on all 100 cases, 20 of which are on the Arizona Utah border, is that the disease is caused by marrying your first cousin,second cousin, or closer relative. So, to totally prevent this disease people need to make sure they are not marrying their relatives. They used to make you have a blood test before you got married, this is why it can cause severely retarded children. Please raise the awareness of the cause of this disease, and it will not happen to any more innocent children. Thank you, and God Bless you, may the scales be lifted from the eyes of those who will not see.
Ellen
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RE: Fumarase Deficiency : Beating the Odds - 7/13/2008 6:55:48 PM
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That is true in some cases but that is NOT the case with my two year old niece. It's sad that many people are mis informed about the disease.
Beth White
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RE: Fumarase Deficiency : Beating the Odds - 7/14/2008 7:06:04 PM
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This message is to Ellen:I am sorry that you are so misinformed. First of all you say that they have done research on all 100 cases, like you know that as a fact. Who is the "they" you are talking about? Where are the 100 cases you are talking about? I know my child was not one of them. You state that they only way this disease can be caused is by marrying a relative. You are totally wrong. What about Aleah, Gea, Kynslee, Katlyn, Jacob, Chase? None of these children have parents that are related, yet all have fumarase deficiency. Even if blood tests were done on their parents before marriage, this is such a rare gene mutation, it would not have been detected. Believe me, I actually did do research before writing my comments. So, no you can not totally prevent the disease just by not marrying your relative. The disease is out there in many diffent types of gene mutations. I am not sure where you got your information because, but if you would let me know, I would like to raise awareness to anyone else that is misinformed. Here is my email address to anyone that would like correct information on the disease.Janell630@yahoo.com
Mother of Child with Fumarase Deficiency
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RE: Fumarase Deficiency : Beating the Odds - 10/6/2008 12:39:41 PM
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To Ellen,I am the father of Katlyn ,mentioned in comment above.No her mother and I are not related ,our family trees could not be more distant.So pleasemake sure you have your information correct.
David
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RE: Fumarase Deficiency : Beating the Odds - 2/1/2009 12:52:45 PM
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i think that the doctors really just dont know about the deficiency i have had two kids with this and one passed away at 10 months the other is now going to be two in 15 days he is very sick but every time i call they tell me that he is going to die and there is nothing that anyone can do about it i think they can do something about it if they do enough research thank you for reading this
april
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RE: Fumarase Deficiency : Beating the Odds - 2/26/2009 6:07:23 PM
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April,I don't know if you will ever go back and read this, but if you do, please contact me. My child has fumarase deficiency. I have started a yahoo support group. My daughter is under some trial treatments that may be helpful for your child. We are always trying to find other families out there that have the disease. I hope to hear from you. Janell630@yahoo.com
Beth White
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RE: Fumarase Deficiency : Beating the Odds - 6/7/2009 12:44:53 AM
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Wow, I just came across this website and am so thankful to connect with some other people who have experienced fumaric deficincy. My son was born with this condition and he is now 5 years old. My husband and I are not related in any way either. As our son Micah gets older we're definitely facing more challenges in taking care of him. He can walk but has very poor eye sight(or his brain doesn't send the right signals) he can't feed himself or takes drinks on his own yet and he suffers with seizures. His sweet smile and sweet spirit have definitely been a blessing in our family though but I would love to connect with others who are experiencing this because so far there's no one that I've met who's facing this up-hill battle.
Angie DeWitt
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RE: Fumarase Deficiency : Beating the Odds - 7/4/2009 6:34:31 PM
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my little girl is 7 now and has fumarase defincey she has siezures but is coming on very well ii agree we should have more reasearch
kerrie
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RE: Fumarase Deficiency : Beating the Odds - 7/10/2009 9:55:32 PM
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i have girl who is 7 years old with fumarase and she has nasty siezures and is very delayed in her developement but i am happy with how she is coming on if any one wants to contact me then feel free kerryhale92@yahoo.com would love to chat about this nasty condition xx
kerrie
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RE: Fumarase Deficiency : Beating the Odds - 9/14/2009 9:10:41 AM
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Angie and Kerri,I have started a yahoo support group. There are about 5 other parents in this group who have children with the disease. We would love to get in contact with you and share information. Please email me at Janell630@yahoo.com
Beth White
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RE: Fumarase Deficiency : Beating the Odds - 9/21/2011 6:54:48 PM
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Ellen, you do not have all the facts not all kids are related in anyway. I had a son born with this disease and his father and I were related in no way and after doing lots of reseach there were no relatives anywhere in our tree. It really bothers me when people talk and do not have all the fats.
Tricia
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RE: Fumarase Deficiency : Beating the Odds - 12/5/2011 8:56:03 PM
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My grandson has fumarase hydratase, has is g-tube fed and struggling with horrible reflux problems. Now he also has seizures as well as osteopenia. I would love to hear from others, hoping to find something that will help alleviate the pain. (My daughter and son-in-law definitely are not related - they come from different continents!
Helen
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RE: Fumarase Deficiency : Beating the Odds - 3/5/2012 12:58:50 PM
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i too have a son his levels are 4000 we are not related either not sure how it happened would love to talk to other moms sammype@hotmail.comthanks
sam
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RE: Fumarase Deficiency : Beating the Odds - 5/18/2012 8:07:29 AM
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Hiya. I just lost my son 2 months ago he was 7 months he had fumarase deficiency. Both me and my husband are carriers. Its soo upsetting and we are not related. I wish there was a cure. I miss my little soldier.
christina
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RE: Fumarase Deficiency : Beating the Odds - 6/15/2012 7:05:20 AM
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My daughter is now 10 years old she can walk not talk but she has fumarase and i can say she is coming on slowly she does have seizures and she acts like 18 month old if anyone wants to talk im happy to talk xxxxx
kerrie
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