Hard to Talk About...

I think that I need to vent... It's about our oldest son, Ryan, who I have stated is Special Needs. It is extremely hard to deal with at times and unless you have walked in anyone else's shoes, not even for a mile...for a single step, do not judge! I realize I do not have a M.D. or even a Ph. D after my name, but what I do have is a degree in being Ryan's Mommy. There are friends and family members out that think that I will forever be "looking" for something amiss with Ryan. Trust me it's not this way...being Ryan's Mommy has taught me this. It's a gut feeling that YES there is something that is plaguing my child and I will die trying to find out what is askew with him. We once saw a counselor who made a comment, "why do you need to know what are Ryan's issues"? Was he kidding me??? He had children, I would hope that he understood this need to know and this need to be able to tell your child that nothing would hurt them but how can I do this if I don't know what is wrong or how to treat it???
This week Ron and I brought Ryan to a Dr.'s appt. at CHOP, yep I said CHOP. I do have reservations about CHOP, which is probably why a majority of Ryan's care happens at DuPont but with that being said CHOP has a Biochemical Geneticist and this is who Ryan saw this past week. This is the 3rd geneticist we have seen over the last 4 years and the 2nd Biochemical Geneticist over the last 4 years. I jokingly told Ron that I was not leaving the Biochemical Geneticist office until we had an answer or at very least a PLAN of action.
The Biochemical Geneticist told us that after reading Ryan's chart she automatically thought it has to be Mitochondrial Disorder, which is what we have been suspecting for the past several years. But then when she met Ryan, she was extremely impressed with his cognitive abilities and also that Ryan did not regress totally in any ability, in other words he may have regressed but eventually he reacquires the ability and then progresses. However, she was concerned about when Ryan becomes sick, he becomes sick so quickly and he goes down fast and hard. She said she couldn't dismiss him that she too wanted to know what plagued Ryan???
The plan of action is this...the lab took at least 6 tubes of blood (perhaps according to the Biochemical Geneticist it could be as simple as an immune deficiency), next she wants us to make an appt. with the Neuromuscular Clinic, in CHOP of course, to get an ultrasound of Ryan's muscle to find out which muscle it would be best to do the muscle biopsy from and finally she wants us to make an appt. with a surgeon to do Ryan's muscle biopsy. Finally a plan of action and perhaps, just perhaps an answer...could we be so lucky??? The Biochemical Geneticist is thinking that it is conceivable that Ryan has some type of Neuromuscular Myopathy?!? However, she did tell us that these are just speculations and it will be awhile before we get concrete answers.
It was good to hear that I was not going insane, as some Dr.'s have been known to tell those of us, who will forever be searching for answers for our children.

Thanks for listening,
Jenny