Be patient (easy to say - tough to do...) - but I know what you're going through. Now - are they saying the don't have the results because they didn't find any deletions in teh first test and were then sending in for another series of tests to be run to look for other mutations? Or thave hey just haven't gotten anything back yet from the first test still?
You can call me anytime at night after 9 is usually best. Most of the kids are in bed and I can hear. Just to let you know Tanner has been on deflazacort for 3 weeks now and for the past 2 days he is getting up of the floor w/in 2 seconds. Call me I will share our journey since the diagnose. 732-255-2347. I think we might have the same doctors if you go to CHOP.
Hi Perlita, My heart breaks for you. I was where you were last year and the pain is so incredible. I stayed on the couch for at least 2 weeks before I would talk to anyone. All I want to say is that it doesn't go away but it gets easier. My son is 4yrs. and like you I had the greatest life. We have 6 kids. this doesn't run in our family. Then this just hit us. I can't stand when people say God only gives you what you can handle. Tell me where did we sign up for this?? Instead I look at it now as God only gives his most wonderful parents this challenge to show the rest what real love and family is. I just want you to feel better. We have some good things coming our way hopefully really soon. For my son it is utrophin. Pray we slip out of this nightmare.
I'm so sorry... I can believe it though as we went back 10 weeks after the initial blood draw only to be told that the second round of genetic tests had never been sent out for due to insurance issues! But did anyone bother to call us? No. And despite our constant phone follow-ups asking if the results were in where they just told us they hadn't gotten the results back yet - I guess no one ever bother to check if the reason they weren't back, was because they weren't actually sent for. Oh well... I can relate to the anguish of your wait. CHoP has great doctors, but some of the admin stuff is absolutley mind-boggle-ingly (is that a word?) frustrating. We'll be there on April 1st & 2nd for some PTC124 study appts, so just in case they push you back another week - we'll have an opportunity to meet ;-).
Hi Perlita, I am so sorry. It will be 2 years tomorrow since Nicholas' diagnosis. It is very overwhelming. I just try not to think of the future and just enjoy today. I really believe there will be some breakthrough out there. I am very happy about th news today. I have been looking for Jill's # and I have lost it. Please call if you want to talk 281-213-3199
Will you be seeind Dr. Finkel? That is who Jacob sees but we also take Jacob to see Dr. Wong in Cinn. Children's once a year and I would highly recommend that you do the same thing at least once. The care that they give is top rate and she will take the time to answer any questions and explain alot of things to you plus when you go there it is usually for 3 or four days at a time and you get to see all the specialists at once. They do tests that CHOP has never done. They will also talk more freely to you about the use of supplements. You are lucky in that you do have time on your side so just keep that in mind till you learn more.
Here's my number in case you ever want to talk. 215-345-7421
It has been two years for us on February 21st. and we are still in a state of shock most of the time. But, there are drugs in the pipeline that the scientists are working on and we just have to have hope that they come in time. Can I ask what your son's mutation is? Jacob has deletions of 42 and 43 which unfortunately will affect the heart more so we are very interested in getting him in the trial for Losartan as soon as possible.
I will let you know when we will be coming up your way this summer and we can get together.
Hi, Alisia did mention it. I was just waiting for you to contact us. Well, unfortunately I am welcoming you to a whole new world. I have to be honest. Michael our almost 3 yr. old was diagnosed in May. I believe I am now just getting our of my denial stage and finally realizing that our world has been forever changed. We have been to CHOP started the nightime strectches, night splints and aquatic therapy. I am starting to learn to take one day at a time instead of wondering what the future will hold for him. It becomes very overwhelming. This site is great because they is alot of supportive people on here who are going through the very same thiing. For now our son is doing well so I am starting to savour these moments. You can call me anytime. We will be in Hershey April 18th for the Disney on Ice show. Maybe we can meet up if you are up for it.
Call anytime. I remember those feelings like it was yesterday. But nothing that the docoters described back then as being our life, has been true. Remember they are describing what has been in the past.....they have no way of knowing what lies ahead for your son. None of us do. It will be a different life than you planned....that is true.... but it just may be okay. Hang in there. We will speak after this weekend. We have a big fundraiser and Pat Furlong is here so I'm entertaining.