How are things going? I just realized that I never responded to you when you added a post to my blog. You asked how we suspected DMD when Ryan was only 3. Ryan has SEVERE deficits in the speech and communication. He has always been delayed in milestones. We were referred by our pediatrician to a neurologist to see why he had these delays. After over a year of tests and visits to the neurologist, they finally tested him for MD and here we are. I am trying to get the doc to do a muscle biopsy...so we'll see. Ryan mutation is a frameshift mutation of exon 38 - never before detected.
I hope is going well with you and your family.
I am going to Rachel's bat mitzvah and look forward to meeting Skyler! You will need a lot of strength in the years to come and I pray that you will have that. From what I hear Brad is doing well and I hope you are, too. It was kind of you to say 'hi'. Love, Michael.
I a sorry this is so difficult for you and being a single parent is so much more difficult too. Your children are beautiful and you are very blessed. My son was diagnosed February 13, 2007 and I thought I was dealing with this well, emotionally too. But between putting on more weight and letting my paperwork and finances go down the tubes, I see now, some things had to give. It is hard. I stay optiomistic as much as I can, have my faith in the Lord, but everyday is still rough watching my son. I just try to enjoy him moreso every moment. I hope and pray for that cure as we all do. It will be a lifelong grieving process of us all as each stage and progession of the disease we learn to deal with.
Anyway, Jared has a Duplication of Exxons 27-28. I also have the same duplication and am a carrier. I would love to know what gene sequencing is and how necessary a muscle biopsy is. Of course, since DNA blood tests are available, it seems no one says to do a biopsy anymore. We were basically told it won't make a difference in treatment, so now that we are going to Cincinatti, I imagine everything we were told initially will change.
Thank you for sharing with me also. I am greatful to have another friend of this community and family we are all in.
Welcome to the best place for support for Skyler, and yourself =). I always feel bad welcoming someone new to our DMD/Becker family here on PPMD, but this is a great place to be if you are facing this disease. My son. Baylor is 4, and was diagnosed almost 2 1/2 years ago. It's always hard, but having this site to come to, really helps. Hang in there =)
Hi Jasmine -
Ryan isn't on steroids yet. Our neurologist won't start them until he is five years of age. We aren't sure if we want to do them or not. We are trying to get them to do a muscle biopsy - but his neurologist won't do it. Eventually we will get our way!!!
I hope all is well with you and your family.
Acutally, it is because I did not even know about it. The MDA clinic here at UCLA gave us a diagnosis, nothing more. That was the Spring of 2007. Spring of 2008 is when I found out we should take Jared to see Dr. Wong at Cincinnati Children's Hospital as Dr. Wong is the best specialist around for MD. So we are going in November for our very first visit. Jared has Becker MD so we will see what they say in November. My husband is against it, but I am beginning to see that it may be something we have to give him. I seeing so many positives about Deflazacort on this website from other parents about strength and now heart protection. Still, I am concerned and don't want to go that route, but I see that may be the best choice. If it wasn't for PPMD Community and other parents, none of this important information would have come to light.
Whoa! That is a big pumpkin. And what beautiful children!
You left me a comment sharing your concern about the changes that deflazacort causes. In all honesty, this has been one of the most heart-breaking things for me to deal with. But everytime I reassess the situation, and weigh out the pros and cons I come back with the same answer that we're doing the right thing. Dr. Bigger (Toronto) once told me that one his patients--a college student, was so upset about his short stature that he stopped taking the steroids. Dr. Biggar said that the boy lost all the benefits in a short time, and ended up as if he wasn't on the steriods at all.
I understand that there have been some parents putting the children on growth hormones with good success (and in fact, seeing some bumps in strength, even if temporary). That is something we are looking into--we had it approved once and then had a delay with our doctor and then lost the insurance approval. They now have denied it and we are fighting the denial.
Quinton just turned 11--I wish we had known to pursue this several years ago. Even if he grows a touch it would do so much for his self esteem. His Dad and I are short in stature, so he didn't have much of a base to start with. He is in fifth grade and the Kindergarten kids tower over him. He sneaks walking on his toes when he's around young children.
He has also become more agressive and quick-tempered. But I'm so proud of him the way he works to contain himself and tries to eat healthy.
I wish I had more advice for your or could ease your concerns. I ache when I look at older pictures of when Quinton looked more like himself. We just try to keep things as normal as possible for him and focus on the things we can do and enjoy together.
Your son is young and there is a lot going on--he may not have to deal with the worst of these things. I'm so glad us parents have each other and are being vigilant about finding the best options of care. Take care. Susan
I also wanted to "paste" what others had told me about their biopsy experience. Might make for a long post but figured you might like as much info. as possible.
They took him back to the OR around 12:40, got him under and started the surgery at 1:08 and the surgeon was on the phone with us by 1:20 saying they were finishing up and it went well. He was back in his room about 1:45 and then awake around 2:30. He woke up fine, not irritable like when he got his tubes, just mad that he had the IV in still and that he was hungry. We were home around 4 and he spent most the evening eating. They warned he'd seem 'intoxicated' and disoriented today and he was. Couldn't walk most of the night b/c he seemed dizzy. But, that wore off around 7 and he's been fine. Just fell asleep actually. So far his leg doesn't even seem to hurt, but they gave him a few local injections after the surgery to help with today. We'll see tomorrow how he's feeling, shouldn't need anything but some Tylenol. The incision is bigger than we expected, it's about 2 inches long on the top of his left thigh. It's sealed with surgical glue so we don't have to really worry about it. Should heal up in the next week or so and then we have to see the surgeon in 1-2.
He didn't seem to have any pain from it the next day, I don't think we ever had to give Tylenol. His scar is about 2 inches long, on the top of his thigh. They told us in pre-op it would be about 1/2 to 1 inch long, but when they actually got in there they had to go longer than expected to get the specimen size they needed b/c he didn't have as much muscle there as they thought he would.
The anesthesiologist was really good; they made sure to let us know that they took all precautions against the malignant hyperthermia. They aired out all the tanks and tubing in the OR for a good 30 minutes before they took him back to make sure there were no traces of the other anesthetics. Since they can't do inhalations ones, he was given meds via IV to put him under and he was completely under, intubated, and all of that, but it was super quick.
He didn't seem to have any pain or be all that bothered by the surgery aside from being so hungry and mad about the IV until they took that out afterwards. It took him a good 2 weeks to stop talking about his "booboo" but I really don't think it bothered him.
And another mom:
He went in for surgery to have a tonsils/ads removal, tubes in ears, and a muscle biopsy. Dr. Flanigan wanted the muscle biopsy, so the ENT did it for him while Baylor was under the general. Baylor's incision is about an inch long, on the back of his calf. The doctor put a water proof clear bandage over the top of it after he stitched it up. We were told the stitches will dissolve. He has a post op appointment this Weds. to change the bandage. The hospital staff was great, but the anesthesiologist gave me a hard time when I told him Baylor was at risk for malignant hyperthermia because of his DMD, with certain anesthesia. He told me I was uninformed, and wanted to know where I got that idea. Needless to say, he did use an acceptable drug through an IV to put Baylor under, but I've got to say his attitude really worried me. Baylor did great in surgery, but when he was coming out from under the drugs, he got pretty worked up, lots of crying and struggling. I realized that it was the IV in his foot that was really upsetting him, so once the nurse took it out, he calmed down a lot. He complained about his leg quite often the first couple of days, but it's getting better now. He can't see it very well, as its on the back of his calf, so I think that has helped. If he could see it easily, I think he would obsess on his 'ouchie'. Today he hasn't mentioned it once, so I think he's forgotten about it :)(This last one did have some redness and minor infection (if you could call it that) but nothing major.
Another mom that I spoke on the phone with said their biopsy was uneventful--took about 20 mins, no redness, no real pain, just a bit sore.
We have all done this for a diagnosis of sorts--all for different reasons; not for a trial and I bet if you asked them they would for sure do it for the hope of getting meds for their boys. (Not trying to sway you one way or another as to whether you do the trial, just telling how I (& they) would most likely feel about the biopsy part of it.)
Now you will probably never ask me another ? b/c I filled up your whole page with comments=)
Hi Jasmine! Welcome to ppmd! =) =( Happy b/c this is a great resource and sad, well, you know, that another dmd face has had to join=(
The biopsy was not as big of a deal as I thought it would be. My main worry was being sedated. I say worry but I was a little freaked out. This was the first time any of my kids had been put under (scary) and then add the MH problem that dmd boys have and I was paranoid. We made dang sure the anesthesiologist (and everyone in the O.R.) knew all about MH. They gave Wyatt a wrist band which listed the MH precaution and they also wrote it on the big board in the OR. His biopsy was on his upper right thigh. It took about an hour and then we were in recovery for maybe 30 mins. or so. He was definitely a little out of it and groggy! He was asking us all sorts of weird ?'s--it was funny. He also thought the "heavy" bandage was the reason it was sooo difficult to walk=) We flew from TX to Ohio and our flight home was about 4-5 hrs. after the procedure. He kind of over did it the first day (there was a play area at the airport and couldn't keep him from it), so the next day he was sore and wanted to stay in bed, which was fine with me b/c I wanted him to heal quickly. Pain was very minimal and under control with meds. I quit giving him the pain meds about 3 -4 days afterwards and he did fine. I would say his was almost his old self by day 4-5. The steri-strips took about 2 1/2 wks to fall off. We didn't have any infection or redness and he seems to have healed nicely. (It is still a light pink/purple but it's only been about 3 mos.) He does feel a bit numb just below the cut but he seems to be getting most of the feeling back--we were told that this was normal. The scar is about an inch long. I wonder if the ones on the arms have smaller incisions??
I am so excited that your son is eligible for the ptc 124!! I would not even give the biopsy a second thought with the promise that this medicine holds for him. Please keep me updated on how he does=)
My husbands grandmother lived in Richmond for many years and we visited her there twice. We love the Vancouver area--it is so beautiful there! BC is beautiful! My husband and one daughter are Canadians--Calgary area. Vee Lail on here is in your area and also just launching a ppmd of sorts up there--you probably already knew this but wanted to let you know just in case=)