Comment

Comment by Kate on July 18, 2013 at 12:19pm

Hello. I have a daughter called Libby who was diagnosed last year as a manifestering carrier of muscular dystropy. We have recently got her DNA blood tests back which indicate she is missing exons 51-55 (whatever that means - I am still trying to get my head round it all as there isn't much on the web regarding girls having DMD!).
I noticed she was different early on, but as she is my only child didn't have much to compare her to. I thought she might have dyspraxia and had an awful time at school trying to get help for her. To cut a long story short, it was a very switched on paediatrician who suggested doing a CK test which came back 3799!
She is under a specialist in Leeds, uk. But as there aren't many girls in this country with DMD there isn't a lot of research so we don't really know the prognosis!
I am coping by booking loads of holidays and eating!!! It has all come as a bit of a shock, especially as my DNA blood tests have come back and I am "normal". Apparently Libby is very rare. Just wanted o reach out to people in the same position xxxx

Comment by Jacqueline M McConnell on February 28, 2013 at 3:17am

Alice has perfect speech but my son has had speech issues- both articulation and social speech problems.

Comment by Linda Bailey on February 27, 2013 at 10:05am

Just a quick question about the speech problems, how are these manifested?  Just not talking or stuttering? Boys and Girls?

Comment by Jacqueline M McConnell on February 27, 2013 at 2:08am

Sherri,

Sorry I didn't get back to you sooner.  I'm just reading tonight.

Did you get the results of Kaitlyn's x inactivation?

My daughter Alice is 11 this year and is definitely gaining strength.  She got her training wheels off last year (after some serious prodding) and then met every goal I set for her on the bike.  I can't wait to see how she does this year.  At clinic her physical tests, especially her legs showed improvements.  She can swim 3 of four strokes, hula hoop better than I can and jump rope. My daughter can ice skate!  My son can't even stand on skates and he is 1 1/2 years younger.  Her X inactivation showed NO dystrophin production, but the docs at Childrens in Philly said unless they biopsy every muscle, there is really no way of knowing how much dystrophin she is making.  She is being treated as if she has full blown duchenne like her brother and has been taking deflazacort for 3 years.  She also takes approx 1gram of creatine monohydrate per day and 200 coQ10, 25mg losartan, supplemental calcium and vitamin D.  She has some osteopenia which so far as slowly gotten worse (annual dexa for 3 years now). 

Alice is the MDA goodwill ambassador for Anchorage, AK and has a full active Alaskan life. 

Best to you and your daughters. 

Comment by Sherri Looper on September 9, 2012 at 12:17am

Hello Everyone, I have a daughter, Kaitlyn, who is 9, diagnosed DMD. She is 3rd generation. All the rest were boys. I also had the same problems getting her CK done. They said no way, your worrying too much, girls don't get it. Which I knew. But she looked so much like my brothers and tripped all the time and runs slow and gets fatigued easily. So we were finaly referred to MDA in Sacramento, Ca. Since then she has joined a study for 3rd generation DMD being done at Nationwide Childrens Hospital in Columbus Ohio. The dna analysis showed Duchenne and we are now waiting on the X inactivation results. But so far no one can give us any prognosis. Just a month ago, I requested that my 4 year old, Jada, be tested and her Ck came back high. So, I may have 2 girls with it. I just want to be connected with a support group. Thanx! Sherri

Comment by Ally Bridwell on January 13, 2010 at 10:16pm

Hello all,

I thought that I would update on Ally, since I haven't in quite some time. Ally will be turning four this spring. She is learning to take steps unassisted. She is starting to pull up to standing and she is a wiz with her crocodile reverse walker. Ally attends early childhood preschool and has a wonderful group of caring teachers, aides, and students. Ally is still nonverbal, but she is babbling more and more. I just know she will talk one day. Ally eyes are also doing very well. It is very rare to see them shift. Ally is still a very happy, energetic little girl. She loves to play with her toys and torment her brother:)

Comment by Linda Bailey on November 30, 2009 at 8:38am

Thanks Jacqueline, I will let my son know.

Comment by Jacqueline M McConnell on November 14, 2009 at 2:19pm

Linda,
My daughter Alice was a tippie toe walker since she started walking. Even after my son's DMD diagnosis his neurologist assured us that her toe walking was idiopathic. Our physical therapist was the one who pushed to have her evaluated. We had her CK level tested and it was super high, like John's. The neurologist was shocked; girl's are not supposed to get DMD. After consulting with colleagues he diagnosed her as a manifesting carrier. She has since had both a DNA test, revealing the mutation, and an X-inactivation test that helps point in the direction of the severity level we can expect, but since it is a blood test and not a muscle biopsy it is impossible to say how much or where dystrophin production may be occuring in her body. She will be eight next month and is learning to swim in mainstream lessons, can ride a bike (with training wheels) and can ice skate without holding my hand. She cannot jump rope, do monkey bars and has trouble with the stairs. I understand from what I've read that there is a great variation among the girls in terms of severity and progression rate: from those who have 'clinical' Duchenne to those who don't know they are manifesting carriers until their own son is diagnosed. My advice is to see if you can get your grandson's doc to order a ck test for your granddaughter. Believe me I know it is scary but it's better to know now. Many treatments are coming down the pike for our boys and girls. We want to be ready.
I hope this helps! Jackie McConnell

Comment by Linda Bailey on November 13, 2009 at 11:49am

I think one of my grand daughters has DMD, her brother does and she has walked on her toes (pigeon toed) since she started walking. Their mom is a carrier and said that when she was little she also was pigeon toed. The second child, another girl now age 7, would scoot with one leg turned strange when she was about 9 months, and this one (two year old) has her toes turned in. The older girl has not had any other noticeable signs since she was little, but I would like to know more about the symptoms for girls. If they are carriers do they manifest symptoms while young and then grow out of them, some of you talk about other problems, like speech, are these related to DMD? Is this a problem that girls face and not boys because our grandson (age 9) does not have any speech problems, just unable to walk, stand, hold anything, etc.

Comment by Jeff McGee on September 1, 2009 at 1:20pm

Hello all. My daughter, Megan (11) was diagnosed, after several years of testing, with DMD. It all started when she was 2. The doctor is wanting to perform more tests to see if there are other forms also. She is doing quite well with no cognitive issues (other than blondness ;-) )and minor physical issues. She is actually better now than she was at age 2 and her CK levels have dropped quite a bit.

• ‹ Previous
• 1
• 2
• Next ›
• Page