Early Years (diagnois-age 6)

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Early Years (diagnois-age 6)

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Latest Activity: May 16, 2018

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Study of DS-5141b in Patients With Duchenne Muscular Dystrophy

Started by Archana Maringanti. Last reply by Jay Griffin Apr 6, 2016. 1 Reply

Which exons are to be skipped for deletions in exons 46-47 ?

Started by Archana Maringanti. Last reply by Archana Maringanti Mar 29, 2016. 2 Replies

Exon 50 deletion?

Started by Corinne King Mar 5, 2015. 0 Replies

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Comment by Leslie Guzman on January 7, 2009 at 4:18pm
Sorry, I forgot a comment. You know, it is wonderful to get our sons diagnosed early. By early diagnosis we can 1) Teach them since the beginning not to eat sweets... educate their taste for the future. Teach him to eat lost of veggies. Don't worry about increasing the weight, the weight will surely come - key I think is to ensure you build good eating habits early 2) Make the night splints part of their life 3) Integrate stretching as part of your and his daily routine... bye!!
Warm regards,

Leslie
Comment by Leslie Guzman on January 7, 2009 at 4:14pm
Ivy,

I don't have much time right now to write all the things I have in my head. My was born with 1 kg, (2.2 pounds), he was in the NICU for 3 months, similar story as you and others... not rolling, not sitting, not walking etc.. not even opening his thumb - in his hand - (his fist always closed!) wow!!!. every every single basic developmental milestones was soooooo difficult. My never ending questions.. will he be able to roll over??, when he did... will he ever crawl???.... when he hardly did it... will he ever walk??? etc.. He did. Believe me, this is JUST!! a delay, NOT a full stop!!. We learned to be very 1) Safely - Proactive - Hands on 2) Very patient 3) Spending our energy on ensuring he got what he needed in terms of support and therapies instead of just being worried. This was the best therapy 4) Enjoy every single day and moment, be happy and 5) Get active, raise money - help so that we change the future of our sons, we CAN do it and INFLUENCE! :) 6) Then, with actions behind, have realistic hope 7) Don't read - milestone books... not healthy for us :). Now, when he was little, we were able to give him 5 PTs a day so this was affordable, things are different here in the US so I would try to get good frequent therapy - maybe you learning and doing it yourself. Call me really if you want, I really see my story in your comments. My son is now 4 and was diagnosed when he was 13 months but I could always see he had something else but Doctors said it was because he was a 29 week old preemie... I knew it was not...

Take care

Leslie (513) 765 9416
Comment by Niccole Papp on January 7, 2009 at 3:52pm
Hi Stephanie. My name is Niccole and my son Michael was diagnosed @ 25 months old with DMD. It has been 8 months since the confirmation of DMD test results and there are days that I still feel like my world is falling apart. My son has been in physical therapy since he was 14 months old. Never rolled or crawled until I got him into a 3 day PT routine. He butt scooted then finally walked at 22 months. It has been a long haul even before getting the DMD diagnosis but now there is an answer to all my questions. My only sanity is my husband, family, friends and faith. I think it is hard when they are so young because I can't imagine him in 5-10 years with DMD. My only advice is to be as proactive as you can for your son and find support. I can only take one day at a time and I have learned to savor both the good times with my son and the bad.
Comment by Lisa Tepper on November 21, 2008 at 11:48am
Hi Brenna, I'm sorry to hear of your son's diagnosis. It is a hard thing to take in. My son was diagnosed a year ago and I still have times when I feel overwhelmed. But for the most part, life has been very good this year. Brad started Kindergarten in August and I was so very worried. Friends and family thought my anxiety was due to the normal "oh my baby is starting kindergarten. He's growing up too fast, etc." They just didn't seem to get that my baby was starting school with DMD and all the issues around that. But, we met with his teacher, the principal and the PE teacher early on and things are going very well. He wanted to ride the bus to school and we were able to let him do that. His bus driver is a very sweet lady. She really looks out for him. One thing that is very helpful for him is that his bus has two handrails so he can use both hands to pull himself up. One day he had a different bus with only one rail and he had a much harder time getting on. He still loves riding it and gets so excited when he sees it coming down the street. Actually coming down the steps can be harder so make sure there will be someone at school to help him off if he needs it. A good relationship with school personnel will really go a long way toward helping Sawyer transition and making you feel comfortable too. Hope some of that was helpful. Lisa
Comment by April Mischke on November 6, 2008 at 2:50pm
Hi Brenna, I am so sorry to hear of your news. Tyler did start kindergarten this year. Its been a battle. I do drive our son to and from school due to the bus stairs. I've become a little over protected. But the school is to make arrangements for him for getting on and off the bus. When Sawyer starts school they will have an IEP for him. they will do all kinds of educational and phyisical tests to see what kind of help he needs and areas where they need to fix things to help him be more mobile. Ty is to use the elevator at his request, better seating to support his back, stairs to get on playground equipment, and etc. Its a good idea to become well known around the school and make sure he is getting what he needs. When I drop Ty off I visit with all the teachers I see and helpout at the school by donating my time when I can. I also make sure they get copies of medical records so the school and the doctors are on the same page. Another thing I have the school doing, doctor recomended, is having the teachers keep a daily log of times Ty falls during the day. He seems to do it alot and comes home with bruises and once a black eye. Its a learning prosess for us all and so far Im glad to see his school putting forth the effort. Anything you need I'm just a click away. APRIL
Comment by Brenna on November 6, 2008 at 12:14pm
We received Sawyer's dx on Oct 20th. We also knew that something was up with Sawyer earlier on. After in home therapy he unsteadily walked at 22 months. Once he started walking it seemed as though he made leaps and bounds. When Sawyer was 2, his sister Kennedy came into the world and we sorta took a break form therapy just to see if all he needed was that small boost and then he would "take off" like his peers. Just before he turned three we decided that our home program wasn't enough. It seem to us that our Doc was putting us on the back burner, telling us that "he'll progress at his own pace". We didn't believe it so we got a second opinion. My husband was just getting off his feet in helping his family start a new Bistro in Hudson WI so our insurance at that time was unbelievably expensive so we by passed seeing a Pediatric neurologist and enrolled him in a Special Children's Center for PT and OT. In Jan 08 our new insurance kick in and we knew that we needed to have him seen. Having mothers intuition, I knew in my heart that something was wrong but didn't want to face up to anything. I wanted so badly for life to be the way that I envisioned it -- marry my high school sweet heart, finish college, have kids, raise them, they would be successful like my hubby and I, travel the world with my hubby and love our grand-kids. So dragging my feet we took him to Gillette's in late Aug. I thought Sawyer had CP. We weren't with the ped. neurologist for 10 min. when he said "I think it's MD". WHAT! not our son he is built like a football player. The CK came back over 22,000. We found out on August 26 -- the day that forever changed our lives. Two weeks later we seen Dr. Day at Gillette's and had some genetic testing done. Mon. Oct. 20th they called to tell us it was MD. It is so great that I can connect with other parents that now or have been on the same roller coaster as I'm currently riding. I worry so about kindergarten starting next fall. He will be riding the bus b/c we live in the country. I just can't imagine sending him on the big scary school bus. He struggles now getting up and down stairs the school bus stairs will look like a mountain to him.
Comment by Ivy Scherbarth on October 9, 2008 at 11:17pm
You know, everyone has a different way of dealing with the shock and grief of learning that their child has DMD. Our doctors at the muscle clinic were amazed (and amused?) that our first response was to throw a huge party for all of our friends. Now, wait-- that doesn't mean we were happy about the diagnosis. We were and are terribly sad/angry/shocked/confused/etc. But we made the diagnosis in to a kind of ceremony, like a rite of passage. I think of it kind of like a coming of age: "Welcome to a new era in your life. You must assume new responsiblities and privileges, new heartbreak and new joy." My mantra now is "It's a diagnosis, not a sentence." But sharing the news and the grief and the shock with our communityof friends, neighbors and relatives was a really good way for our family to tell the whole story once and get it over with, to ask for and to receive help and encouragement, and to celebrate the life that our little boy does have. I've posted the contents of the ceremony and a photo essay on my blog: http://mysonmyrainweatherreport.blogspot.com

I know it's not everyone's style, but we have received such an outpouring of support since we've made the diagnosis public. Most people have no idea what this is like, or even what DMD is. But a person doesn't really have to "get it" to be kind and listen to the long and honest version of the answer to "how are you?"

Just a thought.
Comment by Veronica E. on October 9, 2008 at 9:27pm
April, my son was diagnosed recently (he's only five months old), so I know how devastating this diagnosis is. I can't answer your concerns about what will happen at your son's next appointment, exactly how things progress from where he is, but I can tell you y'all are not alone. I'm betting we are all going through or have gone through what you are feeling now. And I also wanted to let you know that boys and young men with DMD can do amazing things. Three of my moms brothers had Duchenne. Back when they were living, there was no physical therapy, no stretching exercises (that my grandma knew of anyway), no steroids or heart medications for them, no snazzy wheelchairs, no Americans with Disabilites Act and not much support for families. Despite all these things, they loved their lives and were happy to be here. They were funny, smart-aleck and intelligent young men who argued with their many brothers and sisters like any other boys (since they couldn't actually "fight" with their brothers, they perfected spitting to an art form -- gross but cool how they adapted) talked politics and girls and music and were "normal" in every way except the physical. In fact, when my mom brought my dad to meet her family for the first time, he was suprised that her brothers were in wheelchairs. My moms brothers' condition was so normal to her that even though she told my dad all about her brothers and sisters, she didn't even think to mention they were in wheelchairs.

Sorry for the novel -- I just know that you are probably reading a lot of things that are getting you down, and you might want to hear something positive.
Comment by April Mischke on October 9, 2008 at 7:19pm
Hello all,
Our son is 5. He was diagnosed with DMD july 24. We did notice in his baby days that he was a late developer with crawling and walking. And he just seemed built (muscular) Everyone just thought he had calves of steel. We took Tyler to see his doc and let her know our concerns. We left feeling that nothing was answered. We told her he doesnt run, get up from the floor well, or climb. She had him draw a triangle and walk down the hall. Not once touching his legs or looking at them without his jeans on. Said he need an mri and that his brain didnt function the way its supposed to. We learned ofa free clinic at a orthopedic center and took him there they sponsered us to shriners hospital in spokane washington where he was diagnosed with DMD. Tyler has never actually ran, he needs assistance climbing stairs, getting into the car, etc.He thinks hes faster than superman. We just let him think that way. He can pedel is tricycle. He started kindergarten this year, he loves it, but hes so tired at the end of the day. And today he came home with a fever. Are we to be concerened with fevers or any other common illness? Ty doesnt take steriods, and his first neurologist appointment is next wednesday. In Spokane. Does anyone know what to expect at ths appt.? Does anyone also know of supporgroups in Kalispell or Bigfork Montana. Ive searched with no luck. I feel like im losing my mind with no one to talk to that trully understands. My husband is still trying to get thru the first initial shock. Our conversations are usully one sided. Me talking him going ......uh huh. If anyone has any info Im greatful.
Comment by Ivy Scherbarth on September 30, 2008 at 1:37am
Does anyone else here have a baby with DMD? My son was diagnosed in June at age 14 months. Now he's 17 months. And my big worry is that he is still not transitioning sitting-lying or lying-sitting, not standing, not kneeling, not crawling, not walking ... Rain has just learned how to scoot on his bottom in the last few weeks and is so much happier than being immobile. His weekly PT seems to have helped in that regard ... But does anyone have any hope to offer me that this is just "delay" and not "full stop" as far as development and mobility? He still hasn't tripled his birth weight (sign of a healthy 12 month old) and weighs "just" 19 lbs. But still, carrying a 19 lb 17 month old virtually all the time is starting to wear on me ... He has never been comfy in a sling, though we do use them. We've never tried a stroller. Any suggestions or moral support are welcome.
 

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