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Girls with DMD

Members: 16
Latest Activity: May 4, 2015

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My daughter Libby has DMD

Started by Kate. Last reply by Pamela Schmidt Aug 12, 2013. 2 Replies

Identical twin girls

Started by Pamela Schmidt. Last reply by Jacqueline M McConnell Aug 12, 2013. 1 Reply

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Comment by Ally Bridwell on March 28, 2009 at 8:51am
Hi Ana,
Sorry that I am replying so late. I just saw your message today. By now I am sure the DNA tests are back. I hope you were able to get some answers. My daughter is now 3 years old. She is learning to take steps (with assistance). She still does not talk, but she is improving her development every day. We just finished seeing doctors for Ally's other conditions. Ally's chromosome has a deletion of the glycerol kinase difficiency, but she is showing no symptoms. She also has a deletion of the adrenal hypoplasia gene, and she also is showing no symptoms. We pray to God that she will only be a carrier for these diseases. The doctors seem positive that carrier status might be the case for these two. Unfortunately, we know she has signs of DMD and she has a significant cognitive delay. She is gaining strength and since she turned three last week, she is now enrolled in pre-k. Please keep in touch.
Comment by Ana on January 8, 2009 at 6:41pm
Hi, my name is Ana. I have a son with DMD. I also have a neice whom is being tested for it now. I just wanted to let you know about her and get your opinion if you dont mind.
Her name is Makel, she is 13 and has recently been showing alot of muscle problems. She had to have surgery on her knee for an injury playing basketball at school, she has walked on her toes since she started walking. She has been falling on occasion, and she has lost all ability to speak in any way. I know alot of this you may not know about, and her dna testing should be back next month sometime.
Comment by Susana Arroyo on October 14, 2008 at 10:02pm
What other conditions does ally have?
Comment by Ally Bridwell on June 4, 2008 at 9:31pm
Welcome to girls with DMD!

We often get weirds looks when we tell people Ally has DMD. (Especially from people who know DMD mostly affects boys) It is hard finding information about girls with this form of muscular dystrophy. If you are a girl with DMD (or know someone who is), please share your story.

We knew something was wrong with Ally when she failed to roll over on time. We were constantly told that kids develope differently and to give her time. When Ally turned one year old, she began to have a series of muscle spasms which prevented her from sitting. We took her to the doctor and we had numerous tests performed. Ally's CK level was nearly 4,000. We were advised to see a muscle neurologist in Saint Louis, MO. We were told it would be at least a 5 month wait. We couldn't wait that long, so we decided to take her to the emergency room at St. Louis Children's. This was the beginning of our many hospital visits.

At first, the doctors thought Ally had a mitochondrial disease (she had to have eye muscle surgery, she failed her hearing test, and was very low in muscle tone). They were very stumped when the tests came back negative for mitochondrial myopathy. Her muscle biopsy revealed DMD and what looked to be limb-girdle MD. The FISH analysis confirmed a large x deletion, which gave her a diagnosis of DMD. It took about 5 months to get a diagnosis (which we realize is a very short amount of time for a child under the age of two). Ally's large deletion also gave her other conditions. There is only one other girl (on record) in the world with this type of deletion. She is in Italy is about 4 years older than Ally.

We are doing much better with Ally's diagnosis. She is two now, and learning everyday. She is such a happy child and that helps us to cope with her disease. We are thankful each and every day.

Ally does have a younger brother, Dax. He does not have DMD. Ally is actually learning from him. She watches him closely and studies his every move. They play together and fight (just like brother and sister).
 

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