Metabolic Disorders

Does anyone have any experience in dealing with metabolic disorders in children? Specifically KUD or Beta ketothiolase deficiency?

I have a metabolic disorder, and have also worked professionally with children with metabolic conditions. However, I haven't had contact with someone with the condition you mentioned. What sort of info are you looking for?

Hi,

I have 2 children with KUD and I myself have it mildly. I am happy to share any info I have with you. Let me know if you have any questions.
There are a couple of good sites for KUD families.

• Baily Baio Angel Foundation;
• OAA News;
• Organic Acidemia Association Google Group

Best Regards,

Lisa

wow thanks for replying girls!

My son is 3 and last week is a year since his first acute metabolic acidocis episode that had him near comatose and in hospital for a week, and we are finally drawing to a diagnosis and this is where everything is pointing. He has had 6 episodes in the last year the most recent was the weekend which luckily we avoided hospital with early intervention and management when he was still in starvation and before he started vomiting mode using poly-joule.

How do you cope with it day to day and do your kids understand what it wrong and how to cope? Do you treat living with it as you would coeliacs and explain it to people that way? What tests did they go through to achieve complete diagnosis?

I can find lots of info on PKD and other metabolic disorders and not a lot on KUD. Are there any support groups n Australia?

Looking forward to chatting to you!

Our son who is 9 now just knows that he can never eat just protein and must have much more carbohydrate. He has been in the hospital enough to know what causes it and how he can avoid it if possible, and sometimes it isn't.

We didn't get a diagnosis until he was 7 and had been admitted many times. Once just about in a coma, he was unresponsive. It was his 5th birthday and he weighed only 31 lbs. Finally because of other rare diagnosis' in our other children, a pediatric cardio-geneticist figured it out. They tested him with a urine organic acid panel, which shows the elevated ketone bodies and other labs that can be out of whack.

He'd had wildly fluctuating blood sugars, lethargy, vomitting, never had an appetite and other signs but no one knew what it was. Our endocrinologist for our 2 diabetics thought it was Ketotic Hypoglycemia and even though it wasn't the way to treat it was the same when he was in crisis.

He then started taking Bi-Citra daily and what a miracle that was. It cut our hospitalizations way down. Usually a metabolic crisis is the result of illness but we have had it happen over an injury because the body speeds up metabolically when injured. It was the smallest boo-boo but he had missed his meds that morning because my husband accidentally spilled it and the pharmacy didn't have his prescription ready, so we knew he'd get it at bedtime. Then, he missed his morning snack because he was swimming so those three small things started the ball rolling. We never made THOSE mistakes again !!
I promise it will all become normal after awhile. It's learning the "language", the signs, and getting confidence in your abilities. What is good about KUD is you have a bit of time after you recognize symptoms and when you act on what you see the results are good unlike some other organic acidemia's.

He also takes Carnitine daily because it's needed to help "dump" toxins from the cells.
Both of these meds are very simple and benign but are life saving.

When you do have to be admitted to the hospital, it will be for IV fluids, and especially glucose. This "turns off" the ketone machine that gets going in a metabolic crisis which is what is so dangerous for them. Our Dr. has us check ketones every morning as part of a daily routine and he does it himself now. You also want to avoid any fasting, meaning meals and snacks are a must. When he was little it even meant having a very carbohydrate rich snack right before bed to hold him over. There are also formula's for really little guys.

The other thing we do is carry a script from the doctor that says exactly what a hospital should do if we are away from home and he gets sick. That way they know how to get started and if you happen to be overwhelmed, you don't have to try and blurt it all out. Also, a medic alert bracelet is important so if there was a time he was hurt and you were not there medics could look it up and know what to do.

Sorry this is so long :) Please ask anything you like, I know just how you feel!!

Lisa