My 2 year old son had a seizure

[Big B Hova]

So my family and I are in Morrow Bay for the weekend at an airbnb. Last night before sundown my 2 year old collapsed with a seizure. Like a light switch turned off. One second playing , next second on the floor staring at the sky not breathing.

I picked him up trying to figure out If he tripped and fell and knocked himself out because my back was to him. My sister in laws boyfriend saw it happened and said he tensed up and just tipped over.

I picked him up and saw his lips / face turning blue while his eyes are going back and fourth and his hands are above his head trembling. Bring him Inside and lay him On the floor and my sister in law started cpr while my wife was on the phone with 911. His color started to come back and his eyes were still. He was conscious but not reacing to anything (which I guess is normal after an event like this happens) ambulance showed up and took him to hospital.

Now we're here waiting. He's acting fine like nothing happened. No history of seizures in either family. Just a normal healthy 2 yr old.

No fever before or after seizure. Heart / lungs sound fine, blood sugar was fine, EEG was 99% normal, blood work Normal. Doctor says sometimes as kids grow and develop their brain misfires.

Or could be underlying seizure disorder.

Currently waiting on Kaiser to call this local hospital back with recommendations if he should be medically transported to his local kaiser, or just followed up early next week by Kaiser.

Anyone ever experience anything like this?

 

[HNL2LHC]

Sorry to hear the news. As you noted it might not be anything. But I know as a parent it is rough. You guy take care and your son is in our thoughts and prayers.

 

[MK1MOD0]

So sorry to hear that. Make sure you get him to a children’s hospital ASAP. He needs the specialist setting ! It can be so many things that trigger something like this in children.

 

[Kbach]

Sorry to hear. I don’t wish this on anybody as one of our twin girls had febral seizures as a kid so I know how scary it can be.

Hers were usually during the night or later in the afternoon. My wife was a rockstar when dealing with them as I was out of town or not home for a few of them. Luckily they passed with age.

If you or your wife have any questions or anything hit me up and I can connect you with my wife.

 

[LHC Kirby]

Prayers for the little guy, those are tough ones as they don't know how to tell you anything as a two-year-old. I know you are a total wreck right now with this situation. But you said sister-n-law started CPR - was he without a pulse also? I know you said blue in the face and lips. So perhaps she just started breathing for him? I hope it all gets better, I agree with @MK1MOD0 - Get him to children's hospital or specialty doctor for this situation at your earliest timeframe. There are monitors that you can get for nighttime, and naps when you can't watch him, that will alert you.

 

[pixrthis]

That’s scary stuff, happy he came through and happy someone knew cpr. Kid problems are scarier than personal problems, hopefully they can find out why and address it. Best of luck.

 

[zhandfull]

That’s scary! Glad he’s doing fine today.

Had a younger kid helping me at the phone store. We were both sitting there doing paperwork when he had a seizure. 911 called and whole deal. He came out of it pretty quickly but was exhausted like he had just run a race. Such a helpless feeling to be there and witness such an event.

I sure hope that was a one and done event for your two year old and family.

 

[rickym20]

Very scary to go through and glad he is good. Very similar experience for us on our first boy at same age. Only difference was he was shivering intensely and then went into it . Was walking by his room and heard him chattering his teeth. Got to him and same thing , started turning blue, started CPR while wife called 911. By the time ambulance showed (wasn’t long) he was back to normal. Decided to send him anyway just in case to get checked out vs us driving him . Everything checked out and never happened again thankfully.

 

[bagged97taco]

First off I’m very sorry you are dealing with this. Nothing hurts more than your child having issues that you can’t help with. Are you sure it was a seizure? Only reason I ask is because my son did this thing when he was very young where he would hold his breath until he passed out. When he would come to, he was lethargic and daze for quite sometime before he would return to normal. First time he did it was at the lake, no phone service, nothing but a few friends that were nurses. We had him tested, and scanned for nearly everything the doctors could think of. This happened frequently and we didn’t have any answers. Come to find out when my wife was younger she did the same thing. Held her breath until she passed out. Doctors basically said it was passed down from her. This lasted from 9 months old until nearly 6 years old. Sometimes it was just because and other times it was when he would be mad or get hurt in his bike. I have many stories about it but that would be a longer read than this already is. Hopefully you get answers asap.

 

[Big B Hova]

First off I’m very sorry you are dealing with this. Nothing hurts more than your child having issues that you can’t help with. Are you sure it was a seizure? Only reason I ask is because my son did this thing when he was very young where he would hold his breath until he passed out. When he would come to, he was lethargic and daze for quite sometime before he would return to normal. First time he did it was at the lake, no phone service, nothing but a few friends that were nurses. We had him tested, and scanned for nearly everything the doctors could think of. This happened frequently and we didn’t have any answers. Come to find out when my wife was younger she did the same thing. Held her breath until she passed out. Doctors basically said it was passed down from her. This lasted from 9 months old until nearly 6 years old. Sometimes it was just because and other times it was when he would be mad or get hurt in his bike. I have many stories about it but that would be a longer read than this already is. Hopefully you get answers asap.

For sure seizure. Jaw clenched shut. Eyes unresponsive. Shaking. Dazed and confused afterwards.

 

[sirbob]

Very scary!

I have dealt with a family member that had seizures often. Not the kind that you wake up from. She need to be intubated for a day or two, a couple of weeks once...

It doesn't help you, but I feel your concern and fear when a loved one, especially your child is going through something like this. It is very traumatic. I'm wishing your family the best and hoping its just a "misfire".

 

[Bullet28]

Praying for your little man.

 

[Flying_Lavey]

So my family and I are in Morrow Bay for the weekend at an airbnb. Last night before sundown my 2 year old collapsed with a seizure. Like a light switch turned off. One second playing , next second on the floor staring at the sky not breathing.

I picked him up trying to figure out If he tripped and fell and knocked himself out because my back was to him. My sister in laws boyfriend saw it happened and said he tensed up and just tipped over.

I picked him up and saw his lips / face turning blue while his eyes are going back and fourth and his hands are above his head trembling. Bring him Inside and lay him On the floor and my sister in law started cpr while my wife was on the phone with 911. His color started to come back and his eyes were still. He was conscious but not reacing to anything (which I guess is normal after an event like this happens) ambulance showed up and took him to hospital.

Now we're here waiting. He's acting fine like nothing happened. No history of seizures in either family. Just a normal healthy 2 yr old.

No fever before or after seizure. Heart / lungs sound fine, blood sugar was fine, EEG was 99% normal, blood work Normal. Doctor says sometimes as kids grow and develop their brain misfires.

Or could be underlying seizure disorder.

Currently waiting on Kaiser to call this local hospital back with recommendations if he should be medically transported to his local kaiser, or just followed up early next week by Kaiser.

Anyone ever experience anything like this?

Damn... I can't imagine going through that. Sierra Vista is a descent small hospital. Kaiser will likely do their own follow-up testing at Kaiser Sunset.

 

[port austin pirate]

should have a brain scan, make sure no small tumors starting, they can be controlled with medication if found, very dangerous if not treated, hopefully this just a one off anomaly and he will be all good, prayers that Hes ok

 

[Big B Hova]

Damn... I can't imagine going through that. Sierra Vista is a descent small hospital. Kaiser will likely do their own follow-up testing at Kaiser Sunset.

should have a brain scan, make sure no small tumors starting, they can be controlled with medication if found, very dangerous if not treated, hopefully this just a one off anomaly and he will be all good, prayers that Hes ok

Yes I will be persistent on follow up at kaiser with scans.

Like I said earlier, like a light switch. He's acting 100% normal here in the hospital, just a lil tired.

 

[ToMorrow44]

So my family and I are in Morrow Bay for the weekend at an airbnb. Last night before sundown my 2 year old collapsed with a seizure. Like a light switch turned off. One second playing , next second on the floor staring at the sky not breathing.

I picked him up trying to figure out If he tripped and fell and knocked himself out because my back was to him. My sister in laws boyfriend saw it happened and said he tensed up and just tipped over.

I picked him up and saw his lips / face turning blue while his eyes are going back and fourth and his hands are above his head trembling. Bring him Inside and lay him On the floor and my sister in law started cpr while my wife was on the phone with 911. His color started to come back and his eyes were still. He was conscious but not reacing to anything (which I guess is normal after an event like this happens) ambulance showed up and took him to hospital.

Now we're here waiting. He's acting fine like nothing happened. No history of seizures in either family. Just a normal healthy 2 yr old.

No fever before or after seizure. Heart / lungs sound fine, blood sugar was fine, EEG was 99% normal, blood work Normal. Doctor says sometimes as kids grow and develop their brain misfires.

Or could be underlying seizure disorder.

Currently waiting on Kaiser to call this local hospital back with recommendations if he should be medically transported to his local kaiser, or just followed up early next week by Kaiser.

Anyone ever experience anything like this?

Yes. My son did that when he was ~1 on the boat ride home after a long day on the water. Got him to the nearest marina and on an ambulance. Everything checked out normal. He did have an ear infection we didn’t know about so was running a slight fever. It was diagnosed as a febrile seizure. Hasn’t happened since and he just turned 5.

 

[mash on it]

Luckily, I've only had one seizure.
Dec 24, 2000 (30 years old) I remember it vividly.
Ambulance, EKG, EEG's all negative. I was 'foggy' for the next 6-ish months.

I hope your little one prospers unscathed.

Your family is in my thoughts and prayers.

Dan'l

 

[Flying_Lavey]

Yes I will be persistent on follow up at kaiser with scans.

Like I said earlier, like a light switch. He's acting 100% normal here in the hospital, just a lil tired.

View attachment 1224385

Well... if you need a decent lunch that is close.... Mr. Pickles is right down the street and have pretty damn good sammies.

 

[Big B Hova]

Well... if you need a decent lunch that is close.... Mr. Pickles is right down the street and have pretty damn good sammies.

Hell ya love Mr. Pickles. I was looking forward to a breadbowl of clam chowder today on the embarcadero but not looking too good at this point

 

[Dan Lorenze]

Hoping for the best outcome for your son.

 

[gqchris]

Man. Sorry to hear brother. My lil girl is close to that age and I would shit my pants if that happened. I have training to deal with it, but it all goes out the window when its my own kid. (Used to work on ambulance). I joke and Im sure Id spring to action, but ill be a giant wreck after.

Like many said, its a growing up thing most of the time and when I worked in ER we saw it often. So Im confident this will be same for you guys also.

 

[Havasu blue label]

So my family and I are in Morrow Bay for the weekend at an airbnb. Last night before sundown my 2 year old collapsed with a seizure. Like a light switch turned off. One second playing , next second on the floor staring at the sky not breathing.

I picked him up trying to figure out If he tripped and fell and knocked himself out because my back was to him. My sister in laws boyfriend saw it happened and said he tensed up and just tipped over.

I picked him up and saw his lips / face turning blue while his eyes are going back and fourth and his hands are above his head trembling. Bring him Inside and lay him On the floor and my sister in law started cpr while my wife was on the phone with 911. His color started to come back and his eyes were still. He was conscious but not reacing to anything (which I guess is normal after an event like this happens) ambulance showed up and took him to hospital.

Now we're here waiting. He's acting fine like nothing happened. No history of seizures in either family. Just a normal healthy 2 yr old.

No fever before or after seizure. Heart / lungs sound fine, blood sugar was fine, EEG was 99% normal, blood work Normal. Doctor says sometimes as kids grow and develop their brain misfires.

Or could be underlying seizure disorder.

Currently waiting on Kaiser to call this local hospital back with recommendations if he should be medically transported to his local kaiser, or just followed up early next week by Kaiser.

Anyone ever experience anything like this?

My grandson son had one yesterday 2 years old my son had them till 5 years old and of course myself had them till about 5 just watch there fever they will grow out of it it’s pretty scary for a parent Ice pops and watch him

 

[rrrr]

So my family and I are in Morrow Bay for the weekend at an airbnb. Last night before sundown my 2 year old collapsed with a seizure. Like a light switch turned off. One second playing , next second on the floor staring at the sky not breathing.

I picked him up trying to figure out If he tripped and fell and knocked himself out because my back was to him. My sister in laws boyfriend saw it happened and said he tensed up and just tipped over.

I picked him up and saw his lips / face turning blue while his eyes are going back and fourth and his hands are above his head trembling. Bring him Inside and lay him On the floor and my sister in law started cpr while my wife was on the phone with 911. His color started to come back and his eyes were still. He was conscious but not reacing to anything (which I guess is normal after an event like this happens) ambulance showed up and took him to hospital.

Now we're here waiting. He's acting fine like nothing happened. No history of seizures in either family. Just a normal healthy 2 yr old.

No fever before or after seizure. Heart / lungs sound fine, blood sugar was fine, EEG was 99% normal, blood work Normal. Doctor says sometimes as kids grow and develop their brain misfires.

Or could be underlying seizure disorder.

Currently waiting on Kaiser to call this local hospital back with recommendations if he should be medically transported to his local kaiser, or just followed up early next week by Kaiser.

Anyone ever experience anything like this?

I can't imagine the absolute panic and terror that occurred when the little guy went down. I hope you all are doing OK after such a scare.

Hopefully the cause of the seizure will be identified and can be treated to prevent further attacks. I'll be praying for you and your family, especially your loveable junior bruiser. He'll be OK.

 

[Lumpy]

Sorry to hear this HOSS. Hope this is what the Dr. said...I have heard of several similar episodes among people where is never returns. On the other hand if this turns out to be something in the future I would suggest going to this website. My niece ended up having Dravet Syndrome, one of the worst types of epilepsy. I seriously doubt this is the case with your little guy...very rare. Anyhow, the site has many resources. My brother and SIL went through a lot trying to get a handle on it and eventually did. Callie has been living a normal life for some time now. The site had helped many others to get on top of it quickly thanks to their home work. I'm sure this is just an isolated incident so try not to worry yourself sick. I would definitely consider spreading out the immunization over a longer period of time and reconsider some of them all together.

Callie's Cause

www.calliescause.org

 

[PaPaG]

Prayers for your little Angel, hope they figure it out or it never happens again.

 

[sonicss31]

Yes. My son did that when he was ~1 on the boat ride home after a long day on the water. Got him to the nearest marina and on an ambulance. Everything checked out normal. He did have an ear infection we didn’t know about so was running a slight fever. It was diagnosed as a febrile seizure. Hasn’t happened since and he just turned 5.

I was going to post the same thing that happened to my son when he was 4 years old. Scary stuff for sure. Praying for the OP little guy and getting this figured out.

 

[Tank]

Hey Brian. I hope everything turns out ok and it was a freak thing. Thinking of you guys bro. Hoping your little Mini me will
Be just fine!

 

[HTTP404]

Hope the little guy feels better.

My friend's 2yr old Grandson had this same thing happen last week.

 

[kurtis500]

Febrile siezure? Have they determined it yet?

 

[SBMech]

Prayers for your family and your lil man, hang tough...kids are strong. Someone is watching over him, someone was right there!

Many documented cases of single episode seizures, many theories like kids grow and their brain needs to reboot etc or an undiagnosed mild Hypoglycemia hiccup..

One of my cousins was thought to have had a seizure when swimming alone in our grandparents pool as the cause of death at 4, since he was swimming before walking.

 

[Big B Hova]

Febrile siezure? Have they determined it yet?

It was not febrile. No fever before or after .

 

[Joe mama]

That’s a tough one to go through, hope all checks out fine. He looks like a tough little guy, now go get him some ice cream.

 

[pronstar]

I can’t imagine…
There’s so many different types, and frequency plays a part.

But from what I understand, it’s not super uncommon for a kid to have one, never have one again, and no underlying cause is found.

Typically your brain is doing a hard reboot…there’s an over-abundance of neural activity and your brain is basically saying I’m out, let’s reset.

Assuming it’s not epilepsy…
Our brains aren’t sponges so much as they are filters. They need to filter a shitload of inputs so as not to overwhelm us. But sometimes they get overwhelmed.

 

[Big B Hova]

Thanks everyone for the kind words and input. We were just discharged and back at the airbnb. Headed home tomorrow then going to follow up with his doctor at Kaiser asap.

 

[was thatguy]

So my family and I are in Morrow Bay for the weekend at an airbnb. Last night before sundown my 2 year old collapsed with a seizure. Like a light switch turned off. One second playing , next second on the floor staring at the sky not breathing.

I picked him up trying to figure out If he tripped and fell and knocked himself out because my back was to him. My sister in laws boyfriend saw it happened and said he tensed up and just tipped over.

I picked him up and saw his lips / face turning blue while his eyes are going back and fourth and his hands are above his head trembling. Bring him Inside and lay him On the floor and my sister in law started cpr while my wife was on the phone with 911. His color started to come back and his eyes were still. He was conscious but not reacing to anything (which I guess is normal after an event like this happens) ambulance showed up and took him to hospital.

Now we're here waiting. He's acting fine like nothing happened. No history of seizures in either family. Just a normal healthy 2 yr old.

No fever before or after seizure. Heart / lungs sound fine, blood sugar was fine, EEG was 99% normal, blood work Normal. Doctor says sometimes as kids grow and develop their brain misfires.

Or could be underlying seizure disorder.

Currently waiting on Kaiser to call this local hospital back with recommendations if he should be medically transported to his local kaiser, or just followed up early next week by Kaiser.

Anyone ever experience anything like this?

Yes
My oldest is now 40, but at 2 years old
she experienced a seizure that almost killed her. We were just kids ourselves and had no clue.
Wife drove her to our kids doctor and he immediately went into action. Big ass needle of Valium or whatever straight into the heart. Ambulance straight to the ER.
That was the first seizure, she was there about a week.
This started a 3 year nightmare. Her doctor was Dr William Browner. No one could figure out what was wrong with her. The next month the bad one happened. She was put into an induced coma for weeks, and they saved her again somehow. They put her on 60 ml of Phenobarbital twice daily for the next 3 years. After the first 2 years, at age 4, Dr. Browner along with Dr Scott from UCLA medical were able to diagnose her condition as MSUD (maple syrup urinary disease, so named for the urinary smell)
At the time there were 26 known cases nationally, her being the second one in Alaska.
What it amounts to is a lack of an enzyme to break down proteins. It’s a genetic flaw that originated from inbreeding in Amish and other Northeast region societies.
My relatives are all from the Ohio river and Western Pennsylvania, my first wife’s family is all from the New England states. We both carried this certain rare recessive gene that caused this blood disorder in our daughter. (1 in 4 chance, we had 2 other kids with no problems)
Anyway, she was weaned off the Phenobarbital and could eat no protein at all, took carotin and other protein supplements. Over the next 10 years she would periodically go into less sever seizures and we would take her in for her drip and after a few days she’d be good for another year or two.
Today she is normal, has 2 sons, and rarely has any symptoms.
But those years of the seizures and emergency rooms were just a nightmare.

Ash with her sons. Hard to believe I have an 18 year old grandson…

 

[Big B Hova]

Yes
My oldest is now 40, but at 2 years old
she experienced a seizure that almost killed her. We were just kids ourselves and had no clue.
Wife drove her to our kids doctor and he immediately went into action. Big ass needle of Valium or whatever straight into the heart. Ambulance straight to the ER.
That was the first, she was there about a week.
This started a 3 year nightmare. Her doctor was Dr William Browner. No one could figure out what was wrong with her. The next month the bad one happened. She was put into an induced coma for weeks, and they saved her again somehow. They put her on 60 ml of Phenobarbital twice daily for the next 3 years. After the first 2 years, at age 4, Dr. Browner along with Dr Scott from UCLA medical were able to diagnose her condition as MSUD (maple syrup urinary disease, so named for the urinary smell)
At the time there were 26 known cases nationally, her being the second one in Alaska.
What it amounts to is a lack of an enzyme to break down proteins. It’s a genetic flaw that originated from inbreeding in Amish and other Northeast region societies.
My relatives are all from the Ohio river and Western Pennsylvania, my wife’s family is all from the New England states. We both carried this certain recessive gene that caused this blood disorder in our daughter. (1 in 4 chance, we had 2 other kids with no problems)
Anyway, she was weaned off the Phenobarbital and could eat no protein at all, took carotin and other protein supplements. Over the next 10 years she would periodically go into less sever seizures and we would take her in for her drip and after a few days she’d be good for another year or two.
Today she is normal, has 2 sons, and rarely has any symptoms.
But those years of the seizures and emergency rooms were just a nightmare.

Ash with her sons. Hard to believe I have an 18 year old grandson…

View attachment 1224516

That's crazy odds. I could only imagine all the er visits.

 

[Backlash]

Went through the same thing with my oldest son years ago. Exactly the same incident you guys experienced. I rushed him to the hospital and he was admitted to the Loma Linda University Medical Center where he underwent a slew of tests. He was in the hospital for about a week, and there was nothing visible on any scans or any of the tests they administered. Zip, nada, nothing. The specialists and doctors were all stumped. They settled on a seizure caused by a potassium deficiency. He was discharged and never had another episode after that. He's 27 years old now and perfectly healthy. I'm sure he hates bananas now.......we were shoving them down his throat like crazy parents!

Keep us updated and safe travels back home!

 

[was thatguy]

That's crazy odds. I could only imagine all the er visits.

Yeah, she was on the cover of the pediatric ICU pamphlet at Providence Hospital one year. Mom had a copy of it somewhere.
At 4yo she could do her own IV if they let her.
She’d instruct new nurses on how to do her hand IV the way she preferred it.
When she came out of her induced coma (think she was out 2 weeks?) she had to relearn a lot to get back to where she was developmentally speaking. Later on when she was maybe 3-4 years old I asked her if she remembered being “asleep” and if she was scared.
She said when she woke up it was like she had been asleep a long time and didn’t remember when she went to sleep.
She said she wasn’t afraid because, and I’ll never forget this, “the man with the beard played with me and talked to me the whole time. Then He said goodbye and I woke up”.

 

[stephenkatsea]

Thanks everyone for the kind words and input. We were just discharged and back at the airbnb. Headed home tomorrow then going to follow up with his doctor at Kaiser asap.

View attachment 1224512

Very glad your boy is doing great. Is there now a hospital in Morro Bay? San Luis Obispo used to be the nearest full hospital. Fortunately, that’s not too far.

 

[Big B Hova]

Very glad your boy is doing great. Is there now a hospital in Morro Bay? San Luis Obispo used to be the nearest full hospital. Fortunately, that’s not too far.

No we were at Sierra Vista in SLO

 

[pronstar]

Later on when she was maybe 3-4 years old I asked her if she remembered being “asleep” and if she was scared.
She said when she woke up it was like she had been asleep a long time and didn’t remember when she went to sleep.
She said she wasn’t afraid because, and I’ll never forget this, “the man with the beard played with me and talked to me the whole time. Then He said goodbye and I woke up”.

Chopping onions over here…this whole thread, actually.

My oldest is 2 and I’ve also got a 6 month old…

 

[rmarion]

Prayers to little Hova

 

[was thatguy]

Ash holding daddy’s helmet at 4 years old. 1986 or so.
Don’t blink, they’ll be 40 before you know what happened.
Please keep us posted on the little man’s recovery.
I generally do not send prayers to many people, I only have so many to give and frankly mine may be frowned upon upstairs. But little Hova has mine.

 

[rivermobster]

Scary. Too scary. Sure hope it never happens again!!!

 

[CLdrinker]

Damn that’s scary. Glad to hear he is ok. Time to get on the hunt for a specialist.

 

[OldSchoolBoats]

So scary brother, couldn't imagine what you were going through. Keeping you guys and the little one in our prayers

 

[Hoodoo]

We lived with seizures weekly and sometimes daily for sixteen years with our special needs daughter. She had to be monitored continuously. Sadly she passed away a year ago March 20. Her death WASN’T seizure related. She was born extremely premature and had other issues as well. Despite all her hardships, she was usually a happy and cheerful child. I know of some who’ve had one or two seizures as a child and never again.
Hopefully this will pass.

 

[Flying_Lavey]

Someone said it earlier in here and it reminded me..... our 2 year old has hypoglycemia and for the first year or so it wasn't caught. While doing tests when we still lived in Tucson they caught her seizing several times when she was sleeping. The cause was never discovered until the doctors here at Kaiser (fantastic pediatric doctors here btw) discovered she has a pituitary glad deficiency causing her hypoglycemia that is exasperated by her oral aversion to eating. She is on a G-tube and we have started giving her nightly growth hormone shots. Her blood sugars and MUCH more even and she is sleeping much better.

 

[Flying_Lavey]

Yes
My oldest is now 40, but at 2 years old
she experienced a seizure that almost killed her. We were just kids ourselves and had no clue.
Wife drove her to our kids doctor and he immediately went into action. Big ass needle of Valium or whatever straight into the heart. Ambulance straight to the ER.
That was the first seizure, she was there about a week.
This started a 3 year nightmare. Her doctor was Dr William Browner. No one could figure out what was wrong with her. The next month the bad one happened. She was put into an induced coma for weeks, and they saved her again somehow. They put her on 60 ml of Phenobarbital twice daily for the next 3 years. After the first 2 years, at age 4, Dr. Browner along with Dr Scott from UCLA medical were able to diagnose her condition as MSUD (maple syrup urinary disease, so named for the urinary smell)
At the time there were 26 known cases nationally, her being the second one in Alaska.
What it amounts to is a lack of an enzyme to break down proteins. It’s a genetic flaw that originated from inbreeding in Amish and other Northeast region societies.
My relatives are all from the Ohio river and Western Pennsylvania, my first wife’s family is all from the New England states. We both carried this certain rare recessive gene that caused this blood disorder in our daughter. (1 in 4 chance, we had 2 other kids with no problems)
Anyway, she was weaned off the Phenobarbital and could eat no protein at all, took carotin and other protein supplements. Over the next 10 years she would periodically go into less sever seizures and we would take her in for her drip and after a few days she’d be good for another year or two.
Today she is normal, has 2 sons, and rarely has any symptoms.
But those years of the seizures and emergency rooms were just a nightmare.

Ash with her sons. Hard to believe I have an 18 year old grandson…

View attachment 1224516

Dude.... my wife watches Chicago Med and they just did a show with a girl that had your daughter's condition.

My oldest was actually just diagnosed with a related terminal condition as well called homocystinuria. It's very similar in its rarity and how it works. The body can't process certain amino acids that are present in most proteins. Right now her levels are pretty low and consistent low so she can manage with just some B6 supplements daily, but it is suppose to worsen over time and she will likely have to remove protein from her diet completely and just take the supplements like your daughter did.

Apparently My wife and I are carriers. We are working with our genetic doctor to test the other 3 as there are some symptoms in all 3 of them as well.

 

[gqchris]

Chopping onions over here…this whole thread, actually.

My oldest is 2 and I’ve also got a 6 month old…

Me too brother. I cant deal these days. I only cried twice as an adult before my daughter was born. Now its monthly it seems! She has changed me so much.