Little Ethan has joined the family. He was also diagnosed with DMD Friday, April 23 at 10 weeks old. It's been a rough start to the year but we'll see how things go for the rest of this year. Just taking things one day at a time.
Cori...Keep me posted on your sons progression with Deflazacort. We are starting Matthew in the next week, as his diagnosis was only two months ago. I would not have put him on Prednisone, but through meeting families, it would seem the benefits of Deflazacort are incredible in comparison. Thanks...Mark
Saw that you are beginning steroids with Trey. Just wanted to let you know we are thinking about you. You might already be doing this, but we found keeping a behavior journal along with the dosing of meds to be helpful to sort out some of the side effects. We have been trying alternate day dosing deflazacort to reduce behavior side effects since August (research outcome is very mixed, but we made our peace with it) Charles's behavior improved significantly, he has continued to grow, and overall the docs and therapists feel he is maintaining his strength well. I would be interested to hear how spacing low doses through out the day works for you.
Wow! I just dropped by to reply to the message you left me months ago. I don't think you are rude what-so-ever for just popping in and asking questions. We are a family of sorts, because of our circumstance. '09 was a rough year for us. Andrew had spinal fusion in Jan. Several lung infections, and a couple of hospitalizations through the spring. Lingering bowel issues because of the antibiotics. In the long run the surgery was a success as his curve is fixed and hopefully his respitory function will remain in normal range longer, because of his posture change. Andrew is a freshman in high school. He functions socially at, or a little below, age level. He reads at a 7th grade level and math 5th,but is progressing and loves school. This past summer Andrew was to take part in a clinical trial in Columbus Ohio as he has the exon 52 deletion, but that trial has been put on hold. Although it is disappointing other trials are on going and that could spell success for everyone. It hasn't been an easy road, but my husband and I, and our girls are a team. We keep on keepin' on. I must end with this...My son, Andrew IS the strongest person I know. He has a smile on his face every day. A joke to tell, or a smart alec comment. Being happy through all this is like climbing Mt Everest. I'm proud! Take care. Nice to hear from you.
Yes, Seph is on HgH. I give him the shots every night. I can't say he loves them, but he is used to them. As for side effects? Well, he has grown 4.75 inches in 18 mths! He turns 8 today, so he now looks about like a 6y/o. He was at the 3rd percentile when we began them and that is why we tested him. He was specifically tested for growth hormone and his is/was normal. BUT, due to his stopping growing b/c of steroids, the insurance went ahead and approved growth hormone. We are about to change insurance, so I hope there is not a problem with the new company! UGH!
We hae not seen any negative side effects. I know one boy who was on Hgh and it caused fluid retention in the brain that caused severe headaches and pressure on his optic nerve, but they were on it quickly and got him off the shots and he was fine. That is a VERY rare side effect and happens pretty quickly if it is going to.. m ost of the boys I onw on it have had nothing but good results.
Good luck if you pursue this. I know that dr Wong won't put someone on it until there is pretty significant delayed growth....you may be there??? who knows!!! Good Luck!
Yeah...AVI have been talking about starting trials in the US since last year. It was September 2009, then March 2010 and since now it's March and the FDA did not give them green light it's "later" this year. Prosensa/ GSK said "early" 2010 and now we heard that the FDA requests a small intramuscular non-ambulatory trial before they allow Phase III in ambulatory boys to start. So "early" 2010 is now "late" 2010. :-( I'm fed up!
Cori, thank for the birthday wishes for Wyatt, you are so sweet. You're right birthdays can be both a blessing and a curse. I'm so happy to celebrate his life, but them I feel like the clocking is ticking and I can't stop it. I would love to just freeze time and keep all my kids the ages they are. My daughter will be 16 soon and if I could freeze time I wouldn't have to worry about her dating, driving cars, etc. (I would sleep a lot easier, hahaha).
How is Trey doing? I remeber talking to you at the time of his diagnosis and you were moving, changing schools, having a baby. I hope those things have all calmed down alittle and you can focus on raising your babies.
I hope you have a great day today, give Trey a hug from Wyatt in Washington.
So good to hear from you. I completely understand- we are a bit overwhelmed ourselves trying to figure out the next level educational support we want for Charles. We finally finished Charles's neuropsych exam which classified him as very "exceptional" Gifted, ADHD, LD reading, LD Math, R/O LD writing and of course DMD. The neuropsychologist told us he didn't think the public school would be able to meet his needs and advised us to try and find a special school that specializes with Gifted Children with learning disabilities and push the school district to pay for this. Interesting enough I did find such a school- but they are not in an accessible building and would require Charles to climb stairs! Tuition $33,000/year!
Anyway I am now looking into specialized tutoring programs for kids with "learning differences" to see if any can help us. We will also be starting ADHD meds with Charles if we can get "cardiac clearance" Cardiac eval is sceduled in Feb.
How is your baby girl? The word Insane doesn't seem strong enough to describe all you must juggle every single day! I'll definitely be praying for you and your family.
cori, yes , both my boys have had a rough time at school, but things do get better. my best advice is not to push too hard, it seems the boys eventually just "get it". i was told (by a sped teacher i trust) that austin just would never read, well, he is 11 now and can at least read functionally ( signs , key words etc) and does basic math in his head, also learned to tell time. max is 8 and reading at about a kindergarten level. for both boys we have a summer tutor, because they tend to regress, but hate summer school. they seemed to have the hardest time with phonemic awareness, so learning words by memorizing them worked best at first, max has moved on to sounding them out at this point. as far as counting we did find they had a hard time unless they had physical representations of the number ( for austin money works well!) hang in there, and keep the teachers aware that delayed learning is part of dmd, but like i said from everything i have heard they catch up eventually. also, talk to brian denger, he's an expert on dmd and learning, take care, hope this helped!
We are doing good. My doctor sent me back to work last week and I started having contractions again so I am pretty sure I'll be at home for good at this point. We started Joseph on Prednisilone last weekend and talk about hyper!!! He also starts school on Nov. 24th. It's Pre-K and he'll go 4 days a week from 8 AM - 11. He's so excited. I kind of broke down at the IEP meeting because as excited as I am about him starting school it also terrifies me because of the heartbreak I know he will go through when he realizes what this disease is and what it really means for him. He already gets so upset when playing with my 2 year old niece because he can't keep up. Hope things are going well for all of you!
Charles and Trey do sound a lot alike. He does get 'stuck' exactly as you say and needs to have his routine and warning that we need to make a transition or we will have a tantrum. He has been lining up his toy cars in orderly lines since he was a baby. His learning ability is all over the place. He loves to watch NOVA and the history channel and can discuss blackholes, gravity, and global warming. His stuff animals have the "ability to see positively and negatively charge particles" and he uses words like prohibited and pandemonium, but he still cannot count accurately to 100. He tested well enough in the terms of IQ to be recommended for gifted programing, but currently has a lot of problems staying on task and becoming disruptive if asked to do any activity that requires a lot a mental concentration. He is constantly talking and giving his opinion. His fine motor skills were also significantly delayed (he finally tested at age level this year after almost 3 years of OT) He still tires very quickly and can not write or cut for very long. He dictates many of his answers to me when we do math. I suspect he may be "behind" now for his age in terms of reading and math. (we are currently setting up an evaluation to find out where he is actually at now and if we have dyslexia and/or ADHD- he tested in the average range in kindergarten, but in first and second grade more independent and integration ability is required). Since he is taking deflazacort it is difficult to tell how much of the behaviors we see are truly him or side effects from the steroid. We recently changed from high dosage weekend to alternate day and his behavior is significantly better. We are not comfortable with the side effects from everyday use. So far we have not had problems with growth. He grew 3 inches this year and gained 2 pounds.
His genetic report is still not clear to us- a full sequencing was not done (we did not know enough at the time to request it). It appears to me they stopped after they detected a deletion in the first 59 exons. The wording states "a deletion was detected with (exon1 to exon 41) and that the deletion also extends into the promoter region but that the proximal extent of the deletion was not determined. Our current neurologist told me he thought this meant he is missing exons1-41. His muscle biopsy found a complete lack of dystrophin. We probably need to talk to someone in directly in genetics to see if we should have more testing done.
Homeschooling is a challenge, but it allows for the flexibility and adaption we need right now (my husband is currently switching careers and attending Law school full time). We joined a homeschool group that has regular group classes too so we do get good support and opportunities to continue to work on social skills and good classroom behavior.
In terms of progression Charles is actually doing well for his age. He can still climb stairs although it really tires him out (we avoid stairs as much as we can). He can still run for short distances pretty well and jump a bit. He also is able to ride and adaptive bicycle and does not have a full gowers manuver yet. I guess only time will tell.
anyway I think I am babbling now- thanks for the internet hug and hope you are getting enough rest with your precious new baby. Nana
Just wanted to say congratulations with the arrival of your precious daughter! and to say thanks for posting your question about isomers. It has helped us to find information we could not find before. We are currently trying to get a better handle on how to help our son more with his behavior and learning. He tested with a high IQ, but is struggling with math, reading and staying on task. He has exceptional vocabulary and memory for anything read to him (he has a large deletion in the beginning of the dystrophin gene (1-41).
Also glad to hear that Trey is doing well in school.
continuing to wish you and your family all the best with this life journey.
Thanks for the input Cori. It seems as his behavior is getting better. He still sometimes will bang his head or bite himself, but then again, he has been getting bit at pre school, so I don't know if that is the pattern we are seeing. I am expecting another boy in April, so far so good. I am not a carrier and my son's dx was a point splice site mutation. No deletions or duplications. We haven't really been given the specific dx of Duchenne. It very well could be Beckers. The doctors say time will tell. That in itself is hard to hear. I'd rather know now for sure then to sit back and wait.
Your son is adorable and I have faith that something good will happen very soon. My prayers are with you and your family.
I was going to check in on you, but I see below by Candace's post you had your baby girl! Congrats!!!! I hope all is going well! This has to be an overwhelming time and a time full of love! Nothing like snuggling a newborn to put life in perspective for you. All the goodness of things in one tiny package. I think of you often and keep you in my prayers! How is school going?
Sounds like you have all had a lot going on! Congratulations on the new little girl! I am sure she is adorable. I hope all is going well! Things have been more stressful here again. As if we haven't already have enough happen this year well.... I went into preterm labor on Friday (Oct. 30th) at 24 weeks. They aren't sure why but think stress and the complications after I had my son Joseph 5 years ago may have contributed. Needless to say I spent 5 days in the hospital as they stopped the contractions and had to keep me there for observation. They sent me home yesterday and I am now going to be on bed rest at home until I have little Ethan. Let's hope he waits a couple of months!! At least 2-3 more weeks as the survival rates without serious problems like lung issues or cerebral palsy changes drastically in the next 2-3 weeks. If I were to have him now they say the chances of a healthy baby are 13-30%. In 2 weeks it goes up to 80-90% so just praying he's patient and waits a couple of weeks at least. Hopefully God shows me the reason for all this soon. I know we are being tested just wondering what we need to learn from all this. I know He's not doing all this but if we are going through all this we may as well be learning whatever He has to teach us.
Sorry you haven't heard from me for awhile. Just wanted to let you know we are still thinking and praying for your family. I am glad to see you have been able to make some head way for Trey at school and that you have found some medical support that you like. It is definitely a maze out there. I am so thankful for everyone here that can lend a listening ear and provide support and advice. We actually homeschool our son - so we are not too much help when it comes to navigating through the public school system.