CPT1 Deficiency | Imamother

amother

Jetblack

Tue, May 22 2018, 1:40 am

Hi have you ever heard of cpt1 deficiency? Do you know anyone that has it? My baby has it and I have a lot of questions.

amother

Pink

Tue, May 22 2018, 6:32 am

My children have acylcarnitine abnormalities and carnitine deficiency. It can be a primary or secondary disorder, in our case secondary to another condition. It gets treated with Levocarnitine. You need a good metabolic doctor and geneticist. What questions do you have?

FranticFrummie

Tue, May 22 2018, 6:41 am

I don't have personal experience, but I found these links very informative.

https://rarediseases.info.nih......iency
https://www.ncbi.nlm.nih.gov/books/NBK1527/

You can find support groups here.
https://www.google.co.il/searc.....JY7eU

amother

Cerulean

Tue, May 22 2018, 10:49 pm

Best person to see in NY is Dr. Wendy Chung at Columbia. (If you have any trouble getting in, try to reach Mr. Yoel Hirsch at Dor Yehsorim. He had a connection to her.)

The way I understand these illnesses is that the primary trouble comes from the fact that the cells don’t break down the various lengths of fatty acids efficiently, which leads to a buildup of toxins and an energy deficiency. I don’t believe that there is anything the child can take to break the fatty acids down, although there are supplements that allow the cell to be more efficient in converting the fatty acids into energy. Additionally, supplementation with carntine may be recommended.

Our son has complex I mitochondrial disease and takes a ton of supplements to support mitochondrial function, as well as carnitine.

amother

Jetblack

Tue, May 22 2018, 11:18 pm

I wasn't able to see Dr Chung I saw Dr Iglesias in Colombia. Now I see Dr David Kronn from westchester. Have you heard of him?

amother

Jetblack

Tue, May 22 2018, 11:21 pm

do you also always have to make sure your child eats and doesn't fast? My baby is little over a year and won't eat anything. She only takes bottles with special formula

amother

Cerulean

Tue, May 22 2018, 11:26 pm

I don’t live in NY, but I did consult with Dr. Chung. See if you can get on a waiting list if you can. Fasting is a HUGE no-no for us. We were told to only allow ds to sleep the number of hours that corresponded to the number of months he was. (3 months old—sleep/fast no more than 3 hours etc.) that lasted until 1 year old. The he could sleep 10 hrs max with a full feeding before bed. Not sure about cpt1, but for most of the mitochondrial diseases, a metabolic crisis is serious and can be deadly. We don’t be mess around. When our ds was not eating well, he was Ng-fed.

amother

Jetblack

Tue, May 22 2018, 11:31 pm

Same here. My baby also had ng tube and gets hospitalized when gets a stomach virus. Wow sounds so similar. It's really frustrating. I keep giving my baby bottles in middle of the night

amother

Jetblack

Wed, Jun 20 2018, 1:00 pm

Hi I was wondering if you can help me regarding this carnitine deficiency problem. My baby keeps having terrible diaper rashes and a lot of diarrhea. Looks like her stool is very acidic.

amother

Jetblack

Mon, Jul 30 2018, 12:33 am

I'm having such a hard time with my baby lately! She keeps vomiting at least once or twice a day! Has poor appetite. She could go a whole day without eating. Only drinks neocate formula but like 20 - 30 ounces a day n she's 18 months old! She's always nauseous. Dr claims that because she has cpt1 deficiency her liver is always enlarged which puts pressure on her stomach and not comfortable so she's nauseous, vomits... I'm soooo frustrated!!! Dr claims nothing too do about it cuz her liver is bad due to her diseases, nothing to take for it!!!! Does anyone else have any experience with this???? I would love to find a support group with ppl who have kids with cpt1 deficiency

amother

Seashell

Mon, Jul 30 2018, 1:29 am

Jetblack, I'm not familiar with CPT1, though the symptoms you describe are similar to the FPIES that my son went through.

I totally feel your pain! It is so hard watching these little kids suffer, stomachs retching, bodies shaking, totally at the whim of whatever is causing them to hurt.

And those diahrea pampers! OH MY GOSH!

When my son was hospitalized with a blood sugar of 47 after he ate four tiny bites of an offending food and vomited for 20 hours straight, I was so exhausted, so scared. And then the diarrhea started. He made a full, dirty pamper about every two minutes for an hour. I just couldn't handle it!

I really pray that your child should be healthy and well.

amother

Seashell

Mon, Jul 30 2018, 1:51 am

Can you speak to your doctor about Zofran?

It literally saved my son's life multiple times.

With FPIES, they can vomit until they go into shock.
The blood pressure drops really low and the body just gives out.

There was once that my boy had four bites of an offending food and vomited for TWENTY hours straight. He would pass in and out of consciousness each time, white as a ghost.
He was hospitalized for a week. He blood sugar had been 47 when we went in.

After that, we got Zofran.

The Zofran was magic. Within 5 min he would stop vomiting and regain color.
Might work for your daughter.

amother

Jetblack

Mon, Jul 30 2018, 10:12 pm

Went to the Dr today. He said she has virus with pimples in her mouth. She BH didn't vomit today. She didn't want to eat anything all day. I kept giving her pedialyte with sugar, so her sugar level doesn't drop too low. My Dr doesn't like Zofran unless I know fsure what the problem is. I did give her Zofran last time she had stomach virus but she didn't keep it down.

amother

Camellia

Mon, Nov 06 2023, 6:29 am

Op,
Are you still around?
My friend needs support for her child’s diagnosis that I believe is within this family.

amother

Camellia

Mon, Nov 06 2023, 8:37 am

amother Jetblack wrote:

Yes, I can try to help. What is her diagnosis?

Would you feel comfortable to pm? Or if I post an anonymous email address?