My name is Windy and I live in Eustis, FL with my husband who is a firefighter and our 2 year old Skyler.
About my family:
I have a wonderful husband named Joe and son named Skyler Blaise. We just found out this past September that our son has DMD. He has a nonsense point mutation which has caused a frameshift at splice site 50. He is my only son and is my little miracle. There is no family history of MD in my family. I am not a carrier. You see..I was told by many doctors that I could not get pregnant so me and my husband gave up and then we received the news that we were pregnant. Despite all the excitement..I went into preterm labor and Skyler was born at 32 weeks and was only 4lbs. He was a very happy and healthy baby until we started noticing development delays. And now here we are! I would love to talk to people out there who are dealing with the same issues. Please email me!!
Name(s) of child(ren)/individual(s) with Duchenne:
I wanted to know if any of you have experienced and major behavioral problems with your child? My son will be 3 in March and is really going through a major issue with his behavior. I am told by people that it's just the terrible two's and it will get better, but it seems more serious than that. I have read that learning disabilities may occur with a Duchenne boy but he does not lack intelligence, in fact he is very smart. He does well in school and is very social. Any advice… Continue
My family was not affected directly by the tornadoes, but my father had a coworker that lost his daughter in it. We have a new high school now that is pretty awesome. I'm sorry to hear about your baby last year....that must have been devastating. I'm glad your new baby is OK though...what a blessing! I know this sounds crazy, but we are starting to wean Gabe off Deflazacort...we are on Day 5. I totally understand why everyone uses steroids, but we currently have Gabe on Protandim and the VECTTOR machine, so we are going to see what happens when we stop them. Just so we'll know. We don't want to regret anything down the road, so if he starts to show weakness again, we'll just start them back up. Wish us luck and good luck with yours too!!!!
Windy...I would like to finally comment on your post from 2009! I don't check this site often and for some reason I'm not getting notifications, so I apologize! I'm trying to stay more connected thru various outlets so why not PPMD?? Small world about the Enterprise thing:) I'm a LOT older than you though so I don't know if we know some of the same people. It looks like you live in Florida....where is Eustis? My Gabe is 6 now so we are still dealing with some behavioral issues too. He will start the 1st grade though...which is really scary! I hope to hear from you and I want to hear about your new addition too! Our website is www.hopeforgabe.org if you want to read about us:)
hi windy im kimmy watters you little boy is just handsome little man how is he doing today, i wanted to share that i have three friends boys have duchenne, and i realy admire how you cope everyday, just make sure you make time for youself.kimmy
Hi Windy. I'm Kathy Mcdonald and work for the City of Eustis. You commented on the obituary of my 17 year old with DMD that passed away November 2009. I was checking out the families in FLorida with children with DMD and I noticed you live in Eustis. Is your husband a Eustis FIrefighter? Congrats on the new baby on the way.
Your little man is GORGEOUS!!! Just keep your head up, because I had my own business when I was in CO we knew that he wasn't picking up the biting/banging from other kids because he was with me all the time, and when he was around other kids, I was supervising and would definitely not allow that kind of behavior =)...it just was something he did, and he grew out of it after the chaos of life stopped...I have no clue what your life is like right now, but keeping the chaos down has helped him tremendously, and us! I pray that your son doesn't have either, but I as well believe GREAT things are in our future! Hugs to you and your family! Cori
Hi Windy - great to hear from you - I don't think anyone of us ever gets used to this craziness... but we will get thru this for our boys. Our Levi also has a point mutation, exon 22.... did you ever imagine you'd be talking this lingo??? Are you going to PPMD Atlanta conference? we are!!! This is a phenomenal way to get to know others who are TRULY in your shoes... no one knows what this feels like BUT GREAT things are coming. xoxox perlita
What a beautiful little boy! Thanks for the note. Glad to hear he is doing so well! Keelan's just started taking more steps by himself and is talking/signing more. Is Skyler eligible for the PTC124?
Hi Wendy, Does your son go to Shriners yet? If not it would be helpful. Dr. Raymond Fernandez is wonderful and he goes to Shriners. He was very instrumental in my granson getting in the clinical trial for PTC 124.
Willie will be having another muscle biopsy 4-8-09 for the trial. His trial is nearly over. It appears that his stamina and strength has improved. I just hope that what we are seeing is what we want to see.
I pray for all the boys and their familes with this disease.
Sorry I have not been keeping up with emails or blogs. My grandson Willie was diagnozed when he was 3. We live in Clermont and would like to chat with you.
Sometimes with this disease you read everything you can possibly read and other times you just can not face it, My daughter has her ups and downs with this.
He is in the PTC124 clinclal trial which has been very difficult for the family. As she has a 10 year old son that she has to leave behind when she goes with Willie. Thank God he is free of Duchennes.
I promise, I will make a bterr effot to keep in touch.
Congrats! Thats good that you are not a carrier,I found out a few months ago that I am the carrier which is weird because there is no family history of MD but my son has a stop codon on exon 14 and they tested that flaw on me and I have the same flaw. I just remarried in September and we want to try for a girl but I am very scared. Take care,Jessica