Skylar meet with the assisted tech lady last week, she came out with our OT gal Hutch. She was very impressed on Skylars hand and finger strength, and very impressed with how fast he would figure out how to make the switches work, even manipulate them to make them easier for him to use. She is working on getting him a few switches that we can put into several different toys, then he can turn them on and off and make them go all on his own. The best part is she can get him an adapted mouse for his lap top, then he can do more then just listen to music, he would be able to pull up Noggin and play games on his own.
Skylar seems to be a very busy bee, always jabbering and playing. He is always so happy :), I hope that will never change!!! he is at the copy cat stage with his communication, he can tell you Thank you and please, and say pretty much anything I say or ask him to say, his favorite thing to say is story... I must hear story at least 20 times a day, so Skylar has lots and lots of reading everyday, sometimes for hours on end.
He has gotten allot stronger with his arms, hands, fingers and even his legs. We see him moving more and more every day. (Thank God)
ORAL DRUG RESTORES MISSING PROTEIN IN BOYS WITH DMD TUCSON, Ariz., Oct. 18, 2007 — DMD is hand in hand with SMA so this is very promising
PTC124, an oral medication that changes the way muscle cells interpret genetic information, holds promise as a treatment for some patients with Duchenne muscular dystrophy (DMD), the Muscular Dystrophy Association (www.mda.org) announced today.“We have lots of supportive care for children and adults with muscular dystrophy today,” said Sharon Hesterlee, MDA’s vice president of Translational Research, “but so far, this is the only therapy that’s been effective at treating the root of the disease, the genetic defect itself. We’re thrilled with these results.”PTC124 was developed by PTC Therapeutics of South Plainfield, N.J. (www.ptcbio.com), with support from MDA. It tells cells to ignore a genetic mutation known as a premature stop codon, which is the cause of DMD in 13 percent of cases. Premature stop codons, also called nonsense mutations, interrupt protein synthesis before the full protein molecule has been constructed.DMD, a devastating and fatal muscle disease, affects more than 10,000 Americans. It results from any of a number of mutations (flaws) in the gene for the muscle protein dystrophin, leading to the absence of this crucial molecule from muscle fibers. Because the gene is located on the X chromosome, the disease affects males almost exclusively.Carsten Bonnemann, an MDA research grantee at the University of Pennsylvania and Children’s Hospital of Philadelphia, announced today at the World Muscle Society International Congress in Italy that production of the needed dystrophin protein was restored in about half of 12 boys with DMD who took PTC124 for a month.This group received a higher dose than did 26 boys in two earlier groups, who also showed biochemical indications of disease improvement. About half of them also began making dystrophin.Results announced today show that the drug was well tolerated at all three dose levels and that target concentrations in the blood were achieved at the mid- and high-dose levels.These studies suggest that the middle dose of PTC124 is as effective as the highest dose, at least over the course of a month’s treatment.“DMD is a disorder with a significant need for better treatment options and we are encouraged by the results we have seen to date with PTC124,” said Brenda Wong, associate professor of Pediatrics and Neurology at Cincinnati (Ohio) Children's Hospital Medical Center and one of the trial’s lead investigators. “Based on the findings from this study, we believe that the safety profile of PTC124 supports continued testing in longer-term studies.”MDA’s Hesterlee said the “proof of principle” demonstrated in these DMD studies also implies a wide-ranging potential for PTC124 to treat over 1,800 genetic diseases, including other forms of muscular dystrophy, in cases where the cellular defect results from a premature stop codon.MDA is a voluntary health organization that funds research and provides services in more than 40 neuromuscular diseases. Duchenne muscular dystrophy is a major focus for MDA.
Skylar and his Great Grandma Kemmpainnen, I Love this picture
Great Grandma, Skylar and Miss Monica
Great Grandma and Skylar
Great Grandma, Skylar and my mom AKA Grandma Foster
Skylar totally bushed after his company left.
Moni and Sky playing Dora on Skys V-smile (Sky beat the game :), but with sissy's help)
Skylar sporting his new jamies that mama got him.
We had a very good Sunday, my mom (Linda and my grandmother Harriet) came up for dinner. i cooked a mini Thanksgiving dinner for everyone, it was really nice to see my mom and my grandma, this was the 3rd time she has seen Sky, and the first time she has seen him with a trach. We all had a great visit.
There hasnt been to much going on at our house... Chan and Moni had a small cold last week but so far Skys been great. Lots of sick kids in our SMA community (21 listed below), if you could keep them in your prayers that would be great! I hope you enjoy the beautiful pictures, I took them last week from our back deck.
Prayers for MJ. She is in the hospital for a perforated intestine. They are treating it without surgery. Yesterday, Oct. 11) a PIC line was inserted and TPN has started. Her heart rate went down and is now approaching normal limits.
Prayers for MJs cousin Emma Elizabeth W. who had her first open heart surgery. She is only 4 weeks old and has been hospitalized since birth. Please pray that this first surgery works so she can go home before her next surgery!
Prayers for Elizabeth H. who is not feeling great after coming home from California.
Prayers for the family of Kaiden W. Kaiden passed away this week. Our hearts go out to the family. Kaiden will never be forgotten.
Prayers for Kaige D who is in the hospital with aspirational pneumonia. He is finally getting TPN after a long fight with the doctors.
Prayers for Cade T. who surgery was postponed after trouble after intubation occurred. His front tooth was knocked loose, so a tooth splint was given. They are re-evaluating and may do a different growth rod procedure.
Prayers for Sophia D. who is sick after her little sister, Lila, was sick with Croup. She had a rough week after getting the flu or stomach virus. She is slowly recovering.
Prayers for Jacob G. who is now home from the hospital after having breathing problems on the way home from California.
Prayers for Hayden M. who is sick with a high fever and heart rate.
Prayers for Courtney R. who is in the hospital after having problems with her g/j tube. Courtney had surgery on 10/5. She is still having some complications after surgery.
Prayers for Nick L who has been battling some stomach issues the past couple weeks. Nick is recovering slowly after discovering it was rotovirus.
Prayers for Emma S. is recovering from pneumonia and is now home.
Prayers for Ryan B. who is battling a cold that has started to settle in his lungs. Ryan was severely ill on 10/5 with stomach troubles but seems to be recovering from that.
Prayers for Julia K. It was discovered that she had fractured her leg. Julia has osteoporosis.
Prayers for Shira F. She was hospitalized for tests as she appears to be having seizures. All tests came back normal.
Prayers for Billy S who is still battling a rough case of psuedomonas.
Prayers for Stella T. and her family who are slowly adjusting to life after the hospital stay. Stella is doing well and tolerating feeds.
Prayers for Eden F. who is recovering from her g-tube surgery.
Prayers for TJ M. who has been in the hospital with pneumonia and other respiratory complications.
Prayers for Kaitlyn H who is still in the hospital recovering from pneumonia and a Nissen surgery. She has been in the hospital for almost two months now but is doing much better!
Prayers for Britta H who at home recovering from her g-tube surgery. Light a virtual candle in honor of one or all of these children by clicking on the "light a candle" logo below!
To all of you out in blogger land, and those of you who frequent Skylars blog we would like you to say a little prayer for so many SMA kids across this great country tonight: Sophia D., Erinne W., NickL., Emma S., Ryan B., Jenna B., Zoe G.,Malorie F., Stella T., Eden F.,TJ M. and Kaitlyn P.
There are so many SMA kids already sick so early in to fall season, many are home and some are enduring lengthy hospital stays right now.
If Skylar and I could ask for you all to add these children to any and all prayer list, we would greatly appreciate it.