i just read ur blog about the 12/8 Dx date - ours was Xmas Eve last yr - as you know it was a brutally devastating time. My hubby & I practically died for the 1st few months... we were like the walking dead, it was sooo sad BUT since that time MUCH good has occured. So we are thankful for our faith &family that are helping us w/ Levi (3) - Make great memories this hoilday xoxoxo perlita
We got confirmation of Gus's MD only 10 days ago - 2 weeks after I finished treatment for breast cancer.....if you can believe it. Life has been fairly cruel lately,but I still try to count my blessings.
My husband and I are both teachers and very much wanting to learn all we can about Duchenne, research, clinical trials etc.....so far this discussion board has been great!
Thanks so much for your comment, I just said to a friend that I was so excited to get the article out there--I think I was expecting a a flood of money to come pouring in and a bunch of inquiries from people that wanted to help and I didn't and the whole thing was kind of anti-climatic! I guess that means I have to just keep on plugging! So, Thank you very much, your comment, it made my day! Haverhill is not that far from us--I would love to keep in touch with you, if you would like. My e-mail is firstname.lastname@example.org
hi Keelan sounds alot like jack very small for his age and slow to sit up and roll.He has times when he is very tired and goes off his food. we also knew he had a high liver enzime. it took a while to get on the rigth track,one doctor forgot to do a CK test. they did a liver biopsy and then started looking at his muscles, did a muscle biopsy and came back 7 week later with duchenne. We live 700 ks from nearest main hospital we went every month for 12 moths til we got our anwser and then they tested me!! i am a carrier and we have been offered genetic IVF to have our next child. thanks for chatting its amazing how much better its made me feel. is Keelan on his feet? jack had lot of trouble sitting up! We live a fair way NSW do your friends have a child with duchenne??
hey kathy just read on moms cafe my son jack is always biting his hand been a bit worried jack is 3 found out just a week after 2nd birthday dear jack didnt get on his feet til 2 and half. i was thinking its never going to happen.he would bum shuffle alot hey how did event go?
Hi everyone! I just posted an event for Beat Duchenne, our fundraiser at the Saugs/Everett Elks, in Saugus, MA on 10/3/09. It's a day of music, family fun, food, and raffles. Check out www.beatduchenne.org for details! Hope to see you all there!
You know, I have to forget about it. People are crazy. When you say "NO" the immediately think that something must be wrong. Babies come in all shapes and sizes. It would never occur to me to pry into anyone's business by asking such personal questions about a child's birth. Some people don't care about how they sound, they just are so noisy.
You had a big kid. Wow. 9lbs 10oz. I don't blame you, they don't make those tubes for adult sized people.
Have a great rest of your day. It's beautiful here, been outside alot. Good for Wyatt's Vitamin D, right. Keep the sun coming!!!!!
Thank you very much. We think he's a cutie too. He's an amazing baby. Those GI doctors are pretty smart I tell you. If it weren't for our GI doctor checking a CK we probably still wouldn't know about the DMD. I am happy to hear that you are not a carrier (good news is always nice).
I just called a PT locally yesterday to get him an appt. He is meeting milestones late, but my 12 year old who doesn't have DMD hit milestones very similar to Wyatt.
Wyatt has made incredible progress just in the last couple of weeks. His standing up much more often, prefers to get around holding on to furniture. He's a climber. He will climb on anything, he doesn't care. He's fearless. He's almost 17 months, I would say he's 6 to 9 months behind motor skill development. Cognitive development, he's right on. He babbles, says mama & dada, nods his head yes when you ask him a question (hungry, milk, etc.) He started signing - only knows, "MILK" but that's a start.
He's still growing pretty slowly, but he's been moving right along. When we were in Cincinnati at the end of May he was 16 1/2 pounds, he's almost 19 pounds now. He has been gaining about 8 - 10 ounces a month, but in last 2 months, he's gaining over a pound a month. Which isn't a lot but it's a lot for him, so we're happy! Wyatt is still not even on the percent chart. (If they had it on the scale, he'd be like -5%). He was between 25 - 50 at birth and at 4 months, just feel off the chart.
People ask me how old he is all the time too. If I was more of a smart mouth I would say, "Oh he's 8 months old, isn't he amazingly advanced." But I'm not. I'm so much more sarcastic in my head. (hahahaha). I just say, "He's just a little peanut, they are babies for such a short time, I feel blessed that he's little!" Then the next question is, "Was he a premie?" That's the question I hate the most. I'm not sure why that question bothers me, but I think it's like they have to find a reason. Why do they need a reason, why do people have to be so noisy?
Good luck to you too. Keep in touch and let me know how Keelan's new meds work.
Hi, Kathy! Great to hear from you. I'm glad to find other moms with little ones who have already been diagnosed -- makes me feel a bit less "alone" in this journey!
We tested Max at three months because we have a family history -- three of my mom's brothers had Duchenne. Long story short, we weren't aware that I could be tested with accuracy if there wasn't a living, known carrier to test as well (we received some incorrect advice along the way) so we prayed for the best and went ahead and had our kiddos. While I was pregnant with Max, I found out I could indeed test my carrier status with a high degree of accuracy, so we decided to do the carrier testing, thinking I wouldn't be one and we could have one less thing to worry about. At about 18 week pregnant, I found out I was a carrier. We tested Max at three months so that we could be as proactive as possible with his treatment, and I was constantly worrying about it.
While this year has been pretty difficult for us, I imagine it's even harder when you get his with this diagnosis "out of the blue". I feel I have a bit of an "advantage" since I grew up hearing stories about how cool my uncles were, and I knew there was a chance my children could have Duchenne. It wasn't quite as scary for me as I think it could have been.
Does your daughter know much about Keelan's diagnosis? How are you guys handling that issue? When did he start walking? Max is cruising like a champ but is still pretty wobbly when he walks while holding our hands.
Hi Kathy. No Skyler is not eligible for PTC24. He has to be 5 years old and he is only two. If this trial does what is says it can do, the this will help Skyler and other boys. He has a point mutation (nonsense mutation) at splice site 50. No deletions/duplications. I am not a carrier and there is no family history. That is what makes this so hard to believe!! I am glad Keelan is taking steps...he will get there. Skyler was 18 months before he started walking and he still has trouble. It is very difficult for him to climb or go up steps. He needs assistance with that!! Again, keep the faith..good things are gonna happen for our boys!!
We are VERY close to Ephrata, 20-30 minutes. Although Dx was last week, we've known since Xmas Levi probably had DMD - we are holding up much better than Jan/Feb. All I did was sob. Now I have hope for our sons.
Just saw pics of your gorgeous family. Our Levi was diagnosed officially a few days ago. We find MUCH strength in knowing that this is NOT the DMD of the past - things ARE happening for our sons. I truly believe this. Enjoy each day! xoxo perlita
Hi kathy. Wanted to say hello. My son was diagnosed at an early age, I believe 17 months. His was by accident as well. He showed developmental delays but doctors played it off because he was a premie baby. I knew something else was wrong and finally a simple blood test determined his CPK was high and from there were had the genetic test performed. He is two now and is doing really well but it is obvious of his disability. I understand and feel your pain. The days will get better. My husband went through the same thing. Be strong and hang in there!! The day will come where our boys will be cured!! Forever in my prayers!
Again, sorry for the tardy response=) How old is Keelan now? I am sorry to hear that he hasn't walked yet. It took Ellijah a long time as well, so don't lose hope. I am also sorry you found out at such a young age (please dont be mad) because the doctors cant give Keelan anything, and I am sure that is tough. We too tend to slow down the activities in the Fall/ Winter to avoid Ellijah getting sick. I was in the Navy for 5 years, served aboard the USS Dallas, I dont remember what clues we had telling us Ellijah was sick, but to be honest I dont like to think about it. I hope in between our late responses Keelan is walking. It took Ellijah a long time to talk as well, and now we cant get him to stop=) So i was just throwing that out there. Stay up