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AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85
Hey!

Have not posted in quite some time....Just wanted to introduce myself to those who don't know me before I start joining in Smile ..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... Smile

MissyJ's picture
Joined: 01/31/02
Posts: 3210

Hi Marie!!

(((((HUGS))))) It is great to see you! I'd love to hear how you and the family are doing!

Know you are welcome anytime.

~Missy

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

Thanks Missy Smile

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?

mujul79's picture
Joined: 01/22/05
Posts: 1843

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.

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mujul79" wrote:

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 Sad ...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.

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...

mujul79's picture
Joined: 01/22/05
Posts: 1843

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.

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mujul79" wrote:

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.

Sad ..Does someone in your family have EDS? ... My family history is not the best...My parents,
not so bad. My IL's ...horrible. Anything past that, awful. Bumping in the dark here.

Minx_Kristi's picture
Joined: 01/02/09
Posts: 1261

Hi Marie!

I kind of remember your name but don't think we have ever talked. Welcome back Smile

Sorry to hear you're going through so much with your LO, you must be going crazy! I hope you gt answers soon.

xx

mujul79's picture
Joined: 01/22/05
Posts: 1843

"AVoiceInTheWilderness" wrote:

Sad ..Does someone in your family have EDS? ... My family history is not the best...My parents,
not so bad. My IL's ...horrible. Anything past that, awful. Bumping in the dark here.

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.

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.

carg0612's picture
Joined: 09/23/09
Posts: 1554

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!

MissyJ's picture
Joined: 01/31/02
Posts: 3210

Ack - sorry! I thought I responded on this again!

I'm sorry you (and Julianna) are dealing with this. ((((((HUGS))))) Know I'm keeping you all in my thoughts and prayers!

~Missy

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

Thanks Christina, Kristi and Missy Smile

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mujul79" wrote:

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.

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.

Wow! Sounds like you all have this Sad ... Will you consider testing? What about others in your family? The EDS testing...6 wk wait or sooner?

I spoke with Kaden's Mito doc today. One of the tests he had prior to seeing her was repeated (for mito) ...Docs assistant said it came back negative, but that the lab mentioned that the urine was dilluted and suggested retesting. Kaden had pulled a positive when he had this test prior - but that was with first morning urine. Anyways, she said that physically speaking, she did not feel he had a mito disorder and that there would be no need to run that test again at this point, but that the doctor needed to confirm. Kadens other tests (chromosomal/genetic) will be another 2 wk wait. Hate waiting as I'm sure you do!

mujul79's picture
Joined: 01/22/05
Posts: 1843

Oh the wait sucks. I don't even know where to start with that as today I got a call from the sleep clinic about Peter (my 7 year old) and after she says "I haveyour childs results and you need the results ASAP, and I can't give them to you the Dr has to read them" she then says the Dr won't be in town on the 10th (or result appt) so come in on the 16th!!!

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mujul79" wrote:

Oh the wait sucks. I don't even know where to start with that as today I got a call from the sleep clinic about Peter (my 7 year old) and after she says "I haveyour childs results and you need the results ASAP, and I can't give them to you the Dr has to read them" she then says the Dr won't be in town on the 10th (or result appt) so come in on the 16th!!!

OMGOSH! That's ridiculous! Since the results are supposed to be given asap - I would demand a call from the doctor!

mujul79's picture
Joined: 01/22/05
Posts: 1843

I put a call into the pedi who ordred the test to see if she can get a verbal from the sleep center. So far the sleep center has not sent the writen report to the pedi office yet.

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mujul79" wrote:

I put a call into the pedi who ordred the test to see if she can get a verbal from the sleep center. So far the sleep center has not sent the writen report to the pedi office yet.

Have you asked the sleep center if you could get a copy? They might do - you would just have to go in and sign for it.

mujul79's picture
Joined: 01/22/05
Posts: 1843

"AVoiceInTheWilderness" wrote:

Have you asked the sleep center if you could get a copy? They might do - you would just have to go in and sign for it.

Pedi called and said they did not have it yet. Called sleep center and they are sending it to Pedi, if I don't here monday from Pedi I'll go over on Tuse and find out. (it's about 30 min away and gas is an issue right now so if I can avoid driving I will)

Starryblue702's picture
Joined: 04/06/11
Posts: 5454

Hi Marie... welcome back!!

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"Starryblue702" wrote:

Hi Marie... welcome back!!

Thanks, Krystal!

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

Hear anything?

Joined: 07/18/07
Posts: 414

Hi Marie! I was on Jan. '08 with you Smile Welcome back!!

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mw7_7" wrote:

Hi Marie! I was on Jan. '08 with you Smile Welcome back!!

Thank you!! Smile :)

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

mujul79....Any updates? My son had another seizure Sad ..2 wks ago Sad ..He is now on topamax. they started him at 15mg, but he had some not so great side effects, so went down to 7mg, now he is back up to 15 (2nd night) ..They want to work him up to 75 mg. He will be having a consult with a sleep specialist Jan 4 (my request, want to rule out apnea...etc) and will also have an appt with a pedi endocronologist on Jan 6 to look into a hypothalmic disorder (2 issues going on? we will see - geneticist and neuro think so tho)

Anyways, update when you can

FLSunshineMom's picture
Joined: 06/07/06
Posts: 3859

Welcome back, Marie Smile

So sorry to hear about your DS. That must be nerve-wracking. :bigarmhug:

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"FLSunshineMom" wrote:

Welcome back, Marie Smile

So sorry to hear about your DS. That must be nerve-wracking. :bigarmhug:

Thanks Mary.....So so hard can't really put into words. He has a few appts coming up this week...hoping for some additional direction..

mujul79's picture
Joined: 01/22/05
Posts: 1843

Heath is having "events" (but we so far are not doing meds, genitics is set up for next week) He did have a few other visits since we last talked. We are also on CPAP for his apnea now at night. Peter had an MRI on fri and we get results in the morning.

EDS is what they are tesing for. Tessa started having symptoms over Christmas a long with all the boys Sad (Simon is not hitting milestones and has butt dimples)

AVoiceInTheWilderness's picture
Joined: 01/19/06
Posts: 85

"mujul79" wrote:

Heath is having "events" (but we so far are not doing meds, genitics is set up for next week) He did have a few other visits since we last talked. We are also on CPAP for his apnea now at night. Peter had an MRI on fri and we get results in the morning.

EDS is what they are tesing for. Tessa started having symptoms over Christmas a long with all the boys Sad (Simon is not hitting milestones and has butt dimples)

Oh no Sad .. all the kids? This is heartbreaking news Sad . How did Peters MRI go? What type of EDS do they feel you all have?

Kaden needed to switch seizure drugs. He was having serious side effects from the Topamax, so they switched him to Lamotrigine, the drug I did not want due to increased risk of the rash that goes with them all. He is titrating off the Top while starting to take Lamotrigine. Should be off Top completely in 11 days. These drugs are so so scary and I wish he did not have to be on them.

His sleep study consult went well, they want him to have one. I scheduled for end of January, but will be changing to end of February. Kaden needs a break ... He has had so many EEG's close together...hates the stickies and the smell that goes with.

Waiting for endo blood work to come back. Also, his neuro wants him to see a cardiologist, waiting for them to call with appt. This is due to his pulse rate being low when he saw the endo..It was 60. She wants to make sure there is no issue there.

You hang in there. Being scared for you kids all of the time - health issues. The stress...Sending hugs your way...