Have not posted in quite some time....Just wanted to introduce myself to those who don't know me before I start joining in :) ..My name is Marie. Mom to Kaden and Carson. Kaden is 3, soon to be 4 mid January. Carson is my newly turned 2yr old. Hoping to spend a few here and there as time allows... :)
(((((HUGS))))) It is great to see you! I'd love to hear how you and the family are doing!
Know you are welcome anytime.
Thanks Missy :)
Carson is doing great! Kaden on the other hand had a grand mal seizure July 9th of this year. He had another on a lesser scale, the next day...There was also an incident that my husband witnessed a year prior, but by the time he got back to the house (stroller ride) Kaden was fine....He thought maybe the whole thing was in his head so we decided to watch - all seemed fine till July. That day, my husband realized that Kaden had a seizure the day of the stroller ride...only lasted 5min or less.
Kaden had to see a pedi neurologist as a result. He had an ambulatory EEG - clean. Doc asked about family history and my losses came up. She centered on that (was surprised) and decided to do metobolic testing. He failed 3 of the 4 tests - flagged for a mitochondrial disorder. Freaked me out! We saw a mito specialist at UNC 3 wks ago. She feels he does **NOT** have a mito disorder, but is redoing the test at her lab (first was done at Duke university gentic lab)...He also had genetic/chromosomal testing done (not sure what she might be looking for) ..If these tests come back 'okay' ..she suggested he see a hypothalamic specialist.
We are taking one day at a time here...Hoping no more seizures while we wait for possible answers. Trying to be positive!!!
Hoping you are doing well? Your youngest - a year or so now?
Hey Marie nice to see you.
Has he had an MRI yet? We are having simular issues with Heath (20 min EEG was normal) we go for a 3 day MRI on the 17th of Nov. In our case we know he has Chiari Malformation. Can't get in to see the genetic/chromosomal testing until April.
Yes, he had an MRI....He had to be put under for it. He needed a special anesthesia due to the possible mito diagnosis...CMC Pedi Hospital was great, but he still freaked and, had a look of horror on his face when he fell asleep. I was a alone and a complete wreck :( ...Still can't get that vision out of my head. He had a pre-emergence delirium reaction when he came out...He was vilolent and needed 3 doses of valium (child version - can't remember the name) before he finally came out he asked if 'he was dreaming'. I fear him having to go through that again.
Originally Posted by mujul79
Above said, MRI was normal - nothing pointing to mito found.
I was lucky to get in to see a mito doc...Just a 3 month wait. Kaden's neuro said that the wait is usually much longer. UNC was only a 3 hr drive, so again, happy I did not have to fly with him/drive for a much longer time anywhere..
I should have Kaden's results in about 2 or so weeks from now. Hoping for answers, but horrified at the same time if I get one.
Do you have to travel far for the genetic/chromosomal testing? Have they given you any additional info as to what they are looking for?
One day at a time, right? Deep breaths...
We have the genetic/chromosomal testing right in Albany NY at the hospital we do everything at. They are looking for EDS when we go.
:( ..Does someone in your family have EDS? ... My family history is not the best...My parents,
Originally Posted by mujul79
not so bad. My IL's ...horrible. Anything past that, awful. Bumping in the dark here.
I kind of remember your name but don't think we have ever talked. Welcome back :)
Sorry to hear you're going through so much with your LO, you must be going crazy! I hope you gt answers soon.
My mother's family all have huge and long toungs and eveyone has passed away before 50 because of a "problem with the brain stem" I am starting to wonder now if they all had Chiari Malformation. EDS is common with people who have CM. We need to rule it out because of his clubed feed and lung issues and with his OSA because of is toung that has not improved with ENT surgeries, he also bruses easly and then they take a long time to heal. If someone with CM is going to have the decompression surgery they should rule out EDS because the risk to surgery is diff with how to stablize the neck after.
Originally Posted by AVoiceInTheWilderness
I have not been tested but I too was born with dislocated hips, clubbed feet, and large toung. At 32 I can still get my feet behind my head and I do nothing to keep myself bendy. I have flat feet and had to have inserts in my shoes for years and was a toe walker. I get dizzy easly and run into walls all the time. I was devementaly delayed to when you look at my own milestones from my baby book (about 8 months delayed). I have may sensory things going on still as an adult, and cronic migrains that started before I was a teen. I have been having hand numbness for the last 5 years as well.
Hi Marie! Welcome back! I'll be looking forward to getting to know you.
I'm so sorry to hear about your little one's difficulties. I hope you'll all be in for some answers soon. :bighug:
Again - can't wait to get to know you better!