Doesn't all that gear make you just want to jump into a comfy bed and drift off to la la land! Oh my poor baby! One day he will thank me when his head is nice and round! Well the helmet is pretty much to small by now, but we will get the official word from the Dr. this Wed. I hope we dont have to get another one! I am concerned that he is still on his back so much, all the roundness we have achieved will soon turn flat again. Stay tuned for the results!
We really have been so busy these past 2 weeks. It started with our Neurology appointment. Dr. S was nice and gave us some direction. She walked in and was quite impressed with how his head has managed to grow. (and not in a good way) She assessed him and was concerned about the lack of movement and how slow he is progressing. Also at how tired he seems to be. After all was said and done she left us with 4 options.
1. Slow developing Hydrocephalus. I looked at the MRI images with her and down the back of the neck where the fluid would drain into the spinal area was very narrow. That would be my reasoning pointing to hydro. Dr. S gave me the run down on how to handle the upcoming seizures that will be coming. (if its hydro). Like when to come to the ER, how long to let them last.... and signs that it could be hydro. BUT...we have had 2 CT scans showing no change in the amount of fluid, so its probably not Hydro. (or there would be more fluid between scans.) Follow me???
2. Overgrowth syndrome. His head is large, but that is all that would fit the overgrowth theroy. Typically kids are born large, (jase was not) large hands and feet, large bodies, (jase is short and normal hands and feet) So I'm thinking thats a 10% chance.
3. Nothing. Im not convinced that with all accompanying issues its nothing. (i really dont think she does either)
4. Deep breath......4....Leukodystrophy. She said "lets stay positive and we will come to that when it is time. Im not ready to start invasive procedures, lets wait and see what his body tells us" I, having a PHD in googling knew what Leukodystophy ment. It is not good, not curable, and is a degenerative brain disease. Dr, S said to be on the lookout for loss of skills. So we will be.
The day after Neurology we met with Genetics/metobolic clinic again to get some results.
Dr. Warnock gave us the results of the PTEN gene test, and it was negative. Although I was glad that Jase does not run high risks of cancers, I was thinking I would take that over Leukodystrophy. Nice options....huh. All the tests she ran earlier came back normal. That left me with more questions. Uggh. I am so glad that we are testing negative, but that only leaves more serious diseases to test for. She also said that she is started to look strongly at Leukodystrophy. Also she is testing for a Lysomal storage disorder, which is in the leukodystrophy family. It all sucks. and are crappy things. We should know the results of that test in a month.
The next day, I spoke with another geneticist over the phone who has run some tests for us. Lineagen. They are a wonderful company, and Rena was very helpful for us. She gave me some information of a blog of a family going through something similar to us.....Leukodystrophy. It seems to be everywhere I turn. It is so overwhelming to think the doctors see enough signs in your perfect child, to think he could possibly have a disease that will eat away at his brain until it puts him into a comatose state to die?.....in a few years?? What do I say to that?
Today we went to Physical therapy. Dawn is helping us teach Jase to get himself into the sitting position from lying down. We have been on that goal for 6 months now, with very little improvment. I am happy to report that Jase is bearing weight in his legs longer and longer each day! Dawn and Dr. S believe he will walk someday. Maybe with the help of a walker, but he is doing so good with his legs and standing. He actually has pulled himself to standing from my lap a few times! I get so encouraged when he makes progress! And most of his progress is social. He is such a social guy and LOVES LOVES music!!!!
We also had an appointment today with an ENT at primarys to find out what is obstructing Jases airway causing his apnea. His tonsils and adenoids are enlarged. The Dr scoped his throat and said overall it looks pretty good. He suggests we get Jase in and get those tonsils and adenoids removed and keep him overnight to ensure he recovers well. So more than likely he will undergo surgery next month. Hopefully that should get rid of the O2.
Tomorrow I have an appointment with our Pediatician to go over all these results and see if I can push for another MRI. and possibly an MRS. MRS looks at the metobolic side of the brain. (I believe, how it process things.) And bring up his low heart rate at night, it was dropping to the high 70's last night.
I will also be taking Jase to get his blood drawn for another test. The periodic leg movments, that were crazy high! So another fun blood draw. I hate those.
If you made it this long, have a cookie on me! You all rock and I am going to just keep posting things as they come up.......Like JORDAN PULLED OUT HIS FRONT TOOTH TONIGHT! TOOTH FAIRY IN THE HOUSE!
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