My daughter's name is Tiffany, her eight year old son is Wil. Diagnosed with BMD in September 2007. Going to doctors in Florida. Was not getting results. She changed and went to Dr. Jerry Mendell with Nationwide Childrens Hospital. Met with a team of doctors, therapist. Reviewing Wil's records and examining on July 30, changed his diagnosis to Duchene. Needless to say we were all stunned. Thought we had a slower progression. Jensen Beach, Florida is around Stuart, Port St. Lucie Florida about 60 miles north of Boca Raton. Please contact my daughter, Tiffany, at firstname.lastname@example.org or just respond to me and I will hook you up. God Bless. Joyce Bergeron (Mimi)
Hey Jennifer! I just realized that I never responded to your comment way back in June! Sorry about that! I kept meaning to, and, well, I swear sometimes I have dementia (sp??)!! If I don't do something right away, I tend to forget:( And, as for the not replying to your last comment until now--I have been gone for 3 weeks with no internet
access:( (Just got back at 2 this morning.)
Anyway, to answer your first comment, yes, I did spend most of my growing up years in NC. I have never been to Fayetteville--maybe passed through there but don't remember. I am sad to hear you didn't like it b/c I think EVERYONE should LOVE NC:) I grew up in the mountains (yes, they ARE mountains--just older & worn down;) where it is soooo beautiful and my family is still there so that makes it esp. beautiful in my eyes. I can see how you would love St. Augustine, with their beautiful beaches and warm (blazing hot) weather. They say warm weather is good for our boys. My sister's in-laws live there and they go there every year and have a blast!! I am glad that you are loving it there!
And now to your most recent comment.....Is your son showing signs of dmd? Does he have weakness in the pelvic girdle area? Those were some of the questions Dr. Wong posed to us before our visit with her. And, yes, he was/is showing some signs but after the muscle MRI and her exam, she said that he could be anywhere from a moderate/mild dmd to a severe bmd. His mutation (del. of 45-46) usually presents as bmd, so with Wongs info. and our need to know, we decided to do a biopsy. [My bet is that he is dmd but will be only too happy with a severe bmd diagnosis--just don't like to get my hopes up! Plus, I'm not sure of the real difference (i.e. walking longer, living longer, etc.) btn a moderate dmd and severe bmd.] Do you know what kind of DNA testing they did? Our first dr., told us that on the first test, there was a 30% chance of not finding the mutation, and if that happened they would delve deeper into a different test, and if that failed to show the mutation, then he would order a biopsy. So, I'm wondering if "they" moved on to that second DNA test (using the same blood sample from before). I would for sure call and ask them that--get the exact name of the kind of test they did so you can know if they did all they could before moving on to a biopsy. I would also ask which lab they used--just to make sure it is a reputalbe lab with relatively few mistakes. When you find out the name of the test, let me know and I can help you figure out if they did that "2nd" test. (Can't remember the exact names of the different types of testing off the top of my head;) I do think it is soooo very important to know your mutation--your son might qualify for PTC 124, which is just on the horizon and will be the closest thing this side of a cure!!! And your son is so young, so it would be in time for him--before he looses much muscle mass! And even if he doesn't have a premature stop codon that PTC 124 would help, other viable treatments are out there and most are mutation specific. So, I would track down the dna test(s) and go from there before doing a biopsy. The biopsy wasn't a huge deal, but if it can be avoided just by a closer look at the dna, then it would be a shame to put your son (and you)through that. Hope this helps! Let me know if you have any other questions and I will do my best to answer them or help you find answers!! Please contact me anytime! Jill
It's funny how they regress with their talking. I remember James started saying Mama at 7 months and I thought I had a genius on my hands. He progressed with more words and by 12 months he was saying about 6-8 words. Then he stopped learning any more. He didn't want to try any new words and stopped saying all the words he had previously learnt. By 2.5 he was hardly talking at all, and that's what led me to the doctor and to his diagnosis. And here I was thinking I was a paranoid mum! I really hope ST and OT work for him - they ended up doing wonders for James, though we also did a lot of work with him at home. We started making him ask for things, and he couldn't get it until he tried to ask. Small things like this made a huge difference. Also, going into a class at school where the other kids were talking really well seemed to get the ball rolling.
I feel so sad for you as I have been there myself and I know how it feels. For you, this whole thing is still so new. I have at least had 2 years to "get used to it", although it doesn't get any easier and I still cry a lot. But I'm slowly getting there. We are putting all our efforts into fundraising as we at least feel we have some control over that, even though we have no control over his disease. I just have to remember to get up each day and breath, and see my kids to get me going again. It's hard, but we're getting there. You will too.
Firstly, I just want to say what a beautiful family you have. And it looks like Florida greatly agrees with you.
I saw you are looking for a special ed preschool for you son. When my son was almost 3, we took him to a speech therapist as his speech was very delayed. In fact, it was his speech that first led me to a doctor and he diagnosed him with DMD. The speech therapist gave us a lot of different exercises and activities to do with him at home and within 6 months his speech had almost caught up to the other kids. Now we can't stop him from talking - he is a talking monster!! I love it!
We also have him in preschool here in Singapore, but it is a mainstream international school and the teachers have bent over backwards to accommodate him. I think this is because he has been going since he was 18 months old and he was their very first student when it opened. Anyway, his cognitive skills and fine motor skills were also very underdeveloped, and they have worked very hard with him to improve these and he is now on par with all the other kids. I think, with many of the dmd boys, these skills are delayed but with work they can catch up to all the other kids very fast. It is almost like they need to "switch on the light" and once they do it is amazing how fast they progress.
Anyway, I hope you are able to find a fantastic school for him. We have just gone through the process of enrolling James into a school for when we move back to Sydney, Australia, and it has been hard and mostly heartbreaking as very few private schools have wheelchair facilities. He may not end up in a wheelchair (if PTC124 works and he gets onto the trial) but we have to be prepared for a worst case scenario.Luckily we found a school that has had boys in wheelchairs before so they have full wheelchair access to all classes. Finding a school for our children shouldn't be so hard, should it? Every child should be entitled to the best education possible and schools should provide access to ALL kids so there is no discrimination.
Anyway, sorry to ramble. I just want you to know that with the right school, your son will improve out of this world and become a totally different boy. With our boys, it just takes a little more effort on everyone's part.
Thank you for asking I am doing pretty good. I wish you the best in finding a special ed preschool, for your son. I think it is one of the best things possible for them. All of my boys had Developmental delays and Learning Disablities too. We got help through our mental health board if that is helpful to you. It is worst then the whole illness I think. their learning issues, it make me feel so helpless. I hope all goes well. Keep your chin up and read all you can on the parents rights and if you don't agree with anything they decide, you can always appeal remember that.
Your pictures are so wonderful, it looks like you have alot of fun together as a family.
I am trying to get Deacon in a special needs preschool too. I
haven't heard back yet. His scar is ok, it's about the size of my pinkie nail. He never says anything about it anymore. nice talking to you.
Deacon is doing great! Besides the bumps and bruises from all the crashes on the playground. We finally got an appt. set w/ Dr. Wong, can't wait! how is Ryan doing? I saw some of your friends and/or family joined, I think that is great. Brier is spying over my shoulder as said that she likes how "the brother and sister look like they are being funny." Well I hope to talk to you soon.
Hi Jennifer: I was surprised to hear from someone so soon. I have a daughter named Jennifer. My Ryan will be three in January and he was diagnosed last Dec. It was such a shock because Ryan was not showing any signs. He was sent to CHOP to see a hepatologist because he had elevated liver enzymes and about 2 months later we were notifed of the genetic testing results and I am sure you can imagine the rest. My daughter Maria (Ryan's mother ) has completely turned off to everyone especially her sister and this is breaking my heart. She finds no time to return phone calls to anyone and is completely absorbed with making everyday just about Ryan. Maria has also not been open to talking to other mom's of Duchenne boys. Hopefully, in time she will reach out and this is an excellent way for her to do so. I will keep your son in my prayers and hopefully one day our prayers will be answered. I am not to computer savey, so I cannot put up pictures yet. There is a website for him. www.ryansquest.org.
I was surprised to hear from someone so soon after joining. I am going to work on my page and put pictures up soon.... My son Henry is three and was diagnosed in May. Henry is my love, we have a blast everyday- today we went swimming and I chased him around pretending to be a shark- he loved it! I really want to talk to other parents of children with DMD....I am hoping to make new friends-
I have noticed that too. I feel like I am going to miss out too, so I am on here like all day off and on that is. Only when everyone is asleep or playing their Playstation2.
As far as us being on here at the same time remember great minds think alike. How is your day going? Are you about ready for the 4th of July.
I don't think that man has DMD. Maybe BMD. But I asked him if he knew his mutation or deletion and he acted like hedidn't know what I was talking about? I think he may have MS, confused with MD. A lot of people do that.
my daugher, brier, is 6 she also asks a lot about deacon. she thinks the biopsy was done to fix him, and has a hard time understanding otherwise. she asks me which leg doesn't work, or when he'll be able to run or jump. it's hard to explain to her. and honestly i tend to tell her, just don't worry about it. it seems like the more i tell her the more she ?'s she asks. about the biopsy, they sort of left us thinking it was our only option. we had no dna testing done, i don't know if i am a carrier or anything like that. they did do some blood work that showed high ck levels, then mayo did an emg. and then the biopsy. they gave him meds to put him to sleep,and i stayed w/ him untill he was out. he recovered well. they gave him a nerve block on that leg so he wouldn't be in any pain that day. and he never complained of any pain at all. he was uncomfortable w/ me looking at or touching it for a while. the worst thing was that he couldn't walk w/ the nerve block that day, and the dedicated little man he was, he wouldn't stop trying. so we had a few falls that day. next day he was back to normal.even now when i ask if he'd like cream to make his little scar go away he tells me "no me like it, it helps me walk." i was very scared before hand, but realisticly don't regret my choice at all. keep in touch alicia
hello again. we got Deacon's diagnosis on May 15th 2008. he had high c.k. levels last summer, and local ped. nueroligist wanted to do a biopsy last sep. but i was scared. he's my baby, you know.? i didn't want him being put under. so i asked her what else we could do, then she recomended mayo clinic in rochester,mn everyone there is wonderful, they specialize in children and realy cared about our concerns. and believe me my husband didn't make things easy for them. they sent some of his muscle tissue to a special lab in buffalo. no matter how much confidence you have in your dr. there is never anything wrong w/ getting a second opinion.
can your son climb stairs or playground equipment? deacon mostly play alone in the sand @ the play ground. his older sister gets frustrated easily by him and tends to abandon him easily to go off w/ her older friends. how is you girl w/ him? how old is she?
jennifer, deacon saw dr. kuntz @ mayo clinic they did a muscle biopsy. he was never able to crawl, started walking around 2 years old has no speach delays. only physical. thank you so much for your reply
jennifer, my name is alicia my son was also diagnosed in may w/ bmd. he just turned 3 on monday. your children are beautiful. i am very new to this also and could definately use another mother to talk to. so if you get a chance write back.