I do no think you are selfish. I was so excited to hear that there could be some kind of good news in all of this, that it may not be that bad after all, at least not as worse as my worst fears. I'm going to email you my contact info. I would really like to be friends with you and keep in contact. I think it is so very important to share information, grief and everything else that goes on with this horrible situation. Talk to you soon.
I can't remember if I told you about Karsten's diagnosis? Well the diagnosis was shocking. When he was 6 weeks old I had to take him to the ER, he was very sick, not eating, lethargic, etc. Dr. said he had a GI infection, kept him for 3 days because the blood work was strange. Said he had high CPK levels and thought it was a liver problem. Karsten was released because while the blood work was still abnormal, everything else was fine. Every two weeks for three months I took Karsten to have more blood work done so the Dr. could see if there was any change with the CPK levels. There was no change, in fact it was worse. I was instructed to get a genetic test on myself and Karsten. The news came back when he was 5 months old. That was a rough year.
"Dear Jaime - I did get the report. This deletion is actually is
IN-FRAME, but may cause a more severe (Duchenne-like) disease because of
where it is located in the dystrophin gene. So its very similar to
Tanner's situation, but the deletion os a little smaller than his."
I am still trying to figure out what this actually means, is it good news? bad news? or the same? Karsten's doctor here in Houston says his deletion is out of frame. I'm going to share this information with him and see what he thinks too. I also sent an email to Dr. Wong, I hope she gets back to me.
I'm Jaime :) I spoke to Dr. Bonneman today and he is going to review Karsten's DNA results to see if it is the same situation as Tanners. We also spoke about the Utrophin/Gene therapy experiments going on at Washington University and he sounds really hopeful that trial will begin on that in the next couple of years. Karsten is far too young now, he's only 2. 5 years old is usually as young as a clinical trial will accept. Because that is so far off for me, I don't want to get too excited, but you should start looking and researching now since Tanner is older and may be able to participate in a trial when he is 5. I have not read anything about India, I'll see what I can find out about that one too. How is Tanner doing? Is he handling the steroid treatment OK? Any negative side effects?
I feel the same way about finding someone closer to what Karsten has. I was beginning to think there was no one out there with such a large deletion in that area. Karsten is the same as Tanner in that you would not know anything by looking at him and he is so smart. He speaks in full sentences and people are always commenting on how much he can talk and understand for his age. Physically, he is slower and less agile than other kids his age, and he does seem to tire easily some days and asks to be picked up and carried a lot sometimes. For now Karsten has physical therapy once a month and I do his daily stretching.
Thank you so much for sharing this information with me. I am going to look into it all. I have read about Utrophin and the research doctors are doing, but I was not aware of any trials. Please keep me updated on anything new you find and how Tanner is doing with the steroids (I am considering starting Karsten on steroids when he turns 3 in year). I will do the same. It is so nice to meet you Dana.
Hi Dana. Our boys have very similar deletions, Karsten's is 3-30. No doctor has ever explained to me that he could possibly have Becker's with Duchenne progression. I'm not sure I understand what that actually means, but I would really like to know more. Would you mind sharing more of what your doctors told you about Tanner?