Thanks for adding me i love to chat with other moms in the same boat as i have found i have learned so much from other mom 's infact if it weren't for another dmd my son would of been trached he has been sucessful on a niv vent via a mouth piece instead of tradition trach and i love to pass the word about his sucess as his old doctor told us we were just buying him a day mabey a week and he's has great sucess for 2 1/2 yrs ! well i will go for now feel free to eamil anytime ttyl .
I am so sorry you all have had to endure these past months and I was shocked to find out Mitch had gotten sick again! The last I spoke with Carola things were going well. I'm sure you must be exhausted by now and hopefully no more bad bugs will grab hold and cause any more problems. You take care and if you need anything at all give me a call.
my name is Diane Spiess and i have a 22 yr old son with dmd he uses niv 24/7 a vent via a sip mouth piece during the day and uses vpap at night he also has a super pubic cathierter and a feeding tube but even with all his tubes and machines he has a part time job he is such an inperstaion to so many well i wont go on to much mabey we can chat sometime.
My son is nearly 21 and has deletion at least 48-52. We are conducting advocacy in Oz at the moment for fine mapping so this is as accurate as I have gotten about 10 years ago. He walked till 9. He is taking ace inhibitor and beta blocker but opts not to take prednisone though he's tried both prednisone and deflazacort at the fringe of being non-ambulatory (as was all they knew then) the former to good effect but only for a year or so. He might be be going on nocturnal ventilation soon, but so far 6mthly sleep studies have been borderline. Is your son on bi-pap? What age did he start? I am trying to get Doug to stretch hands more as there has been a big downturn in function past 6 months. Do you guys do anything else? The bed control is starting to be a problem. Appreciate any new tips, which might be more recent for you if indeed our sons phenotypes are similar? BTW, I attended the PPMD conference in LA in 1999 but not since.
The hospital should be able to direct you to a home health company that can supply you with a vent. The only thing I have is a bipap machine, that we don't use anymore. Let me know if you need anymore information.
HI Maxine! Mitch has a service dog from Canine Companions for Independence. This non-profit organization breeds their own dogs that have the personality and traits that work best to provide assistance to people in a variety of settings. Lynelle (Mitch's dog) had 2.5 years of training before Mitch was "matched" to her. We went trhough 2 grueling weeks of training with Lynelle at their facility. Lynelle is foremost a companion. Mitch has no use of his arms or hands at this point in his life, He can use a mouse on the computer and drive his w/c using the joystick, but that's all. Lynelle can open doors for Mitch. The doors must have European style handles. A "tug" is placed on the door for her to tug it open. Lynelle can retrieve dropped objects and return them to Mitch in his lap. Some dogs are trained to turn on/off lights. Lynelle can also open and close drawers. When out in public, Lynelle can "push" on the device that opens automatic doors; this is one of her favorite "commands"! If a credit card is given to Lynelle in her mouth, she will presetn it to a cashier by dong an "up" command. The cashier can then place the credit card into Lynelle's vest pocket for safe keeping.
As for steroids, Mitch is not on anything like that. I did try deflazacort when he was about 8 years old, but was scared of the side effects and took him off of the drug after one month. Prednisone was a very new tiral drug back then. We've tried creatinine when that was the "buzz". No benefits from that! Mitch was involved in the earliest trials for myoblast transplant back in 1991 at the Childrens Hospital in San Francisco. Nothing much came of myoblast transfer and now gene therapy is the newest rave among researchers. I have heard about the benefits of idebenone, which is similar to the effect of Co-Q10. I am going to start him on idebenone when he has his G-tube placed as the pills are too big to swallow safely. Mitch is at high risk for aspriation and also "chokes" on many types of food. He is going to have a G-tube (feeding tube) placed Aug 8th. Mitch also has loss of appetite and some weight loss. Thankfully, he had a few pounds to lose to begin with! He is at a good weight right now and the docs don;t want him to continue to lose at the current rate. I look at placement of the feeding tube as a positive thing. I am worried about the anesthesia involved.
How was the conference? I am very interested to hear if anything was said about G-tube placement and the use of idebenone. Also, was there any mention of the use of non-invasive ventilation? Mitch just started using NIV during the daytime and feels it helps a lot. BiPAP is great for nighttime.
Nice "chatting" with you! Hope to hear all about your new dog! Take Care, Heidi
Hi There, thanks so much for your fantastic email, i am so happy to have you as i do stress that i am on top of things, from the ppmd conference, i always walk away with fantastic things to bring back and add to jarryds care, so last year when i got back i started the applications for a service dog and funny enough, last monday our new family member arrived for jarryd, his name is prego and he is just beautifull. so we now have a service dog for him that is not really listenening at the moment but the trainers are here now doing all they can, does your son have one, and please let me know what he can do for your son, i would be interested in knowing what they are capable of. He is on bipap at night, and this has made a huge difference, no steroids, and no supplements, so i would also love to hear what you are doing there, thanks so much for your kind words, you are amazing, love from your south african friend, Maxine
I am so happy it all worked out with the NIV! It makes me so angry that doctors don't know more about it! Thankfully those of us that do know about it are able to pass on the information to help others.
Nick hasn't been doing very well for the past month or so. He is having terrible coughing and vomiting issues and was in the ER last week for a mild pneumonia. We keep hoping that he'll snap back out of it. Poor guy is really tired and we haven't dared leave the house because we never know when he's going to need suctioned or the cough assist. Last night his teacher and one of the aides from his old classroom came and visit him. He really enjoyed it but then ended up having a bad coughing episode right after they left. I so wish he was a candidate for the NIV but he isn't so we have some tough decisions to make in the near future.
Take care Heidi and thanks for making me feel better by letting me know it all worked out for Mitch. Keep me posted on his progress.
HI Heidi. Thanks for your wonderful email, i am also so happy to chat to someone with an older child as i am sure you battle to find people to head crunch with. It is so true what you say about boys with similar deletions, because last year at the conference i chatted to many parents and it was so funny because everyone that i spoke to that had similar deletions seemed to be of a similar pattern. My son i found out he had duchenne when he was two, big calves, very supple and so his hands had these little dimples at the knuckle which he still has today. He also has the most beautiful cute baby feet to this day. His fingers are still like springs if you push them back. I found out early because he is one of a twin and i could just see there was something wrong and took him over and over again to paeds who just kept saying dont compare them, twins are very different. anyway eventually this one doctor asked him to do the few things we as parents look for now in others but wouldnt know at the time, like taking a step up the stairs without holding on, getting up off the floor and doing a simple jump which jarryd could never do, he also jumped doing a one two jump. He did some bloods eventually and told us that we must take him home and enjoy him because he would be lucky to reach his sixteenth birthday. Well that is when i started searching the world and after a few years i found Parent Project USA and have now been for the last 8 years. I do this because here they have no interest in extending their lives. I have set up parent project south africa with all the knowledge i have gained and have seen the results in care and management by educating the parents who then can intern insist on the right care for their child like steroids and heart medication and breathing. Jarryd is on beta blocker for the heart which we found out 2 years ago he had cardiomyopathy. He is also on a bi Pap at night and we do our best daily. I must say i am scared everyday even though he is very well that he has a mucous plug and i cant do anything or a heart problem that i can do nothing about and i try not to live in this place because he could be just like your son and be happy at 23. I just dont understand why we dont have a care book for our older boys, like your son is complaining about breathing, what to do next, Phone 911 when they get to you do you give them oxygen or not. and what to do with them next. This is my big fear and i hate it. I do feel that our sons are similar. No steroids, my son stopped walking at 8, He has obsessive behaviour which i did not see mentioned in your email. He has learning problems but can speak to anyone and everyone for hours if they would just let him. he only likes adults as kids irritate him. SO Highly intellegent but seems to have very little logic like he will say things he is thinking, eg what is your name, what do you do, do you earn alot of money, why is your nose so big, why you so fat. bla bla, i used to die, but now i just take him as he is. He also has an amazing mind that just proves he sees the world from another side in every situation. People just love him because he is so interesting. He is not in school becasue not one place can cater for all his needs. really sad because he wants to do something daily and i cannot find a thing. A job he would love but battles to do anything manually. but i will keep praying. He is very bloated looking and daily i struggle. He to doesnt eat alot but everything i give him just blows him up and he does love the wrong food. My stress has been what does this do to his heart because he is so big and he hates been over weight. Funny enough it seems to be the bigger boys that have our similar deletions that i chatted to last year and the year before. I definatley see a pattern in boys with Jarryds deletions and i would love to know if these are the stronger dmd sufferers because they all seem to be a group that lives longer. Maybe we should ask to get a project going, Are you going to the conference this year. it would be lovely to see you, so just drop me a line, any way lovely chatting to you,
Love all the way from south africa
I just wanted you to know that I really appreciate your spirit and can tell how supportive and helpful you are to so many people. I agree with you to never give up hope. I hope I can be as strong as you have been going through all of this. Any advise on making it through the difficult days?
My Grandson, Logan, who will be 4 on August 5, has deletions 48-50. However, we just got the DNA test results back on July 2, 2008, so I don't have much to compare with yet. Right now he gets around well, though he is not up with other 3-4 years old kids.
hey - thanks! I will check into them if the trainer we have lined up doesn't manage to train for everything we want. Our dogs are almost grown and we have arranged for them to start "regular" puppy training in a few weeks. Then the trainer said he will check to see which one (we have 2 one for each son) will be best for specialty stuff.
Do you have any recommendations for what a dog should learn for DMD? I know there are things like pick up clothes from floor, fetch things, open doors...