Autism As A Whole: genetic testing

Showing posts with label genetic testing. Show all posts

Thursday, May 17, 2012

Just Going Through The Motions...Part III

Unknown 5/17/2012 0 Comments

Since it is Throat Punch Thursday and I have many people I would love to have my way with, I think I will continue with my medical mystery!! When you first start visiting doctors you are determined to fix things and excited to see a new doctor to get a different perspective. The determination doesn't go away but as you keep being derailed and detoured you end up losing faith in them. Them meaning the doctor's of course. Do you ever wonder where these doctors get their medical degrees from? Some of the things these specialists have said to me were ignorant and caused me to question their judgement.

After the Orthopedic appointment, which was on the 2nd, we only had a few days to relax before another road trip. At least it was closer and only required a hour and a half drive. He was calmer but this was going to be an all day trip. The Neurosurgeon wanted to have an SSEP test done. From the SSEP, a neurologist is able to determine the time it takes for nerve fibres to relay a stimulus from the point of stimulation (wrist or ankle) to a detection site on the scalp, neck or back. By analyzing the SSEP pattern, the neurologist can get an idea of how well these sensory nerves are working.

Everything I read said that it was pretty non-intrusive and the doctor said it shouldn't be painful but it was a long test. It lasted four hours!!! They tested his arms and legs so it was two hours per section. Chucky Cheese was not having a good day either. He peed himself when we were trying to get things set up which worked out actually because we then suggested he put a robe on. He hates clothes so it wasn't that hard. It was the rest of the test that was a challenge. We started with his legs which seemed to really bother him. He was screaming and I felt so helpless. I wanted to pick him up and tear the wires off to leave but we needed the test done. Arms were not that big of a deal. He didn't seem phased by it. Thankfully that part is over. Now for the results. Thinking about them makes me want to cringe.

It isn't that I want something to be wrong though. I know something is wrong and I hate the process. His arm nerves are normal. Yippeee!!! But... remember I said he has a really tough time with his legs? The results were inconclusive due to "child was uncooperative". He wasn't uncooperative. He was in pain!!! Whatever.. Neuro-surgeon does not want to mess with the syrinx now. He doesn't think it is necessary. Ugh.... Now we had to eat and head to the next doctor for the day. This is getting exhausting!

We arrived to the urologist's office and the "intern" was talking to me when he comes out with,"Well, Autism isn't a neurological disorder so maybe there is something going on neurologically" WTF!!! Where do these people get their degrees???However, they don't feel his incontinence is behavioral and would like to do an ultrasound of his kidneys and bladder as well as a Urodynamics test. The last one requires him to be catherized which in my opinion is VERY intrusive. UGH!!! The neuro surgeon will then see the tests and decide accordingly if he feels the syrinx is an issue. In the meantime we wait and worry.

The neurologist called and says she does not see a huge issue with him and it is so frustrating. I have notes from the school, severe behavior regression, test scores from his tri-annual and his leg looks odd. How much do I have to give them. I travel all over the Northeast and still haven't gotten anywhere. Hopefully, if I can find a place to stay in Boston, we can go to the appointment with the neuro-geneticist and Orthopedic at the Boston Children's Hospital. I am still awaiting an approval letter!

So my Throat Punch Thursday goes to doctors. They would rather blame it on Chucky Cheese's pre-existing condition then looking deeper at what is going on!!! I need answers and I am exhausted and drained. He is sick of all the doctors and he is frustrated with his body. It just isn't working right for him. We will get through this as we always do, but it is getting harder to cope. Thanks for listening and reading. I will continue this when I find out more. Please keep us in your thoughts and hopes for answers and relief. His Triannual is on the fourth and that means I get to deal with all of it face to face. Overwhelmed I am but I think I am ready. Oh, It's my birthday!!! Woo Hoo!!!

Sunday, December 4, 2011

Sliding Down the Mountain

Unknown 12/04/2011 0 Comments

Photo courtesy of Brad Fiore

OK... I am not even sure where to start. It was a great week in the beginning. But things quickly slid down the endless mountain that I seem to be re-climbing again and again and again. I know that must sound very familiar but I am so exhausted and drained. The stress in my life feels as if it is pulling my leg as I am trying to climb up and I think if I cannot manage it soon I may fall all the way to the bottom. I need to write this cause I am nearing the end of my rope and right now, I can't seem to attach the nut so I can keep climbing!!!

I guess I should start with the good news and meander my way into the crushing news I received later in the week. Isn't is funny how you always seem to get good news about progress and inevitably bad news about regression follows shortly after? That is how my week went. First, I received Chucky's report card and it wasn't all that bad. I am proud of him as I can see that he is learning. Then his IEP goals came in the mail of which he achieved 2 of 30 goals!! I was so elated. I called a million people (not really cause I only have about 3 people who I call to talk to), to brag about his progress. Most of my bragging happens on facebook and I have such a wonderful family of fellow parents who rejoice in these moments with me. So... Way to go Chucky Cheese cause you have accomplished great things this last three months. I was really high on life, until it happened. The phone rang. The dreadful caller ID that told me the school was calling.

C.C.'s physical therapist was on the other line so I knew something wasn't right. Ever notice how they never call unless something is not right? I wish they would call to tell us an amazing achievement every now and then so we don't dread hearing from them. Don't you agree? Anyways, she started talking about his muscle tone and stiffness which he has always had. That is why the docs said he has hypotonia. She asked about my older son's testing and the fact that he was diagnosed Cri du Chat and why I never had C.C. tested and I told her that I didn't feel it necessary. Not that I am in denial but why test for something that there is no cure for? Why add yet another label to his forms? Ugh... I guess she just doesn't get it cause then the word acceptance came into play.

Acceptance!!! Hmmm.. what to say about this word. Many NT families will not understand the full impact of this word. Many therapist don't see how hurtful it can be and I know acceptance. I live with acceptance and it swallows my being. I accepted the fact that doctor's thought my son would never talk, I accepted the fact that he was autistic, I accepted his Sensory Processing Disorder. I also accepted Buddy and his Tourettes, Aspergers and most recently Cri du Chat. I take care of my boys, spread awareness, advocate for, and research ways to help them. I do accept. I have accepted and will always accept and find more acceptance. My boys are who they are beyond all the labels that appear on paper. They are special and wonderful boys and I can accept that they need extra help, love and patience to allow them to grow.

Then she requested that I bring CC in to be tested. More tests. More words to look up. WOW!! She said that Chucky has muscle atrophy and had regressed since September. He is having difficulties holding his head up and sitting up. He is stimming during group sessions and his arms, back and legs are very tense. He is loosing his range of motion. Can you imagine hearing all of this on the phone? In a sense I am glad she couldn't see me cause I think my face distorted into so many emotions all at the same time. The next step was looking up muscle atrophy....

So I did, after I frantically called his pediatrician and developmental pediatrician setting an appointment to have the bloodwork done and discuss his issues. The outcome sucked and I read way too much. I read about the causes of muscle atrophy and it included cancer, aids, malnutrition. Ugh.. Stop reading! So, it has been a really tough week again and I wonder when the light at the end of the tunnel is even going to be visible again. Whew.. thanks, I needed to rant so there you have it. Now I am going to go blow my nose, wipe and wash my face, and move forward on my journey. That includes getting tested myself so... genetic testing here we come and regardless of the outcome I will always accept my children and their diagnosis's. So I will find a place to attach the Nut and continue climbing up the mountain and with my determination I will not stop till I reach the top.

I wasn't sure if this Qualified for Throat Punch Thursday at If This Is Motherhood , so I commented and Debi read my post ensuring me that it is in fact a Throat Punch Week and fits. So here it is. I share it with you all.