Two of my children have isovaleric acidemia. My daughter’s condition was caught by routine newborn screening. She is living a healthy life. My son’s wasn’t. He is severely disabled. AMA.

Is there any strong opposition to the screening/making it mandatorty? And if so, what are the reasons given?

I can't speak to a person's reasons for opposition for newborn screening. As a parent profoundly affected by a treatable condition that all babies in the US are screened for, I would recommend everyone fully educate themselves on the value of this public health service. For most people the results are normal and life goes on never giving it a second thought. I see the value every day in Stephen and Caroline.

I work for a state health department that performs newborn screening and there are a people that opt out and refuse to have their children tested.

We occasionally received letters with reasons and I would say the most common reason is that they don't like the "government" keeping their child's DNA on file.

Newborn screening is a hotly contested issue in my state for this exact reason. Tinfoil hat wearers Opponents are convinced that the state is going to start tracking people using their DNA collected through newborn screening. They use scare tactics, like telling people that the government is planning use that data to begin selective breeding programs and things like that. It's sad and frustrating.

It's unfortunate that these opponents try to sway people away from such a lifesaving public health program with such scare tactics. NBS began 51 years ago and has saved so many lives and spared others from Stephen's fate as the list of disorders screened for expanded. It's all about saving lives, not DNA. Yes, it is sad and frustrating, because it's the affected baby that may not be screened, due to these notions, who will suffer.

Thanks for fighting for this issue, with all these anti-science lunatics around it is important to also hear personal stories on the pro-science side.

My question is: What is the treatment for IVA? Is there a drug available that blocks the conversion to isovaleric acid, or does the patient have to live a live of leucine-free diet, much like people with PKU? If the latter, how do you cook?

Treatment: There is a restricted diet that requires only a set amount of protein per day which helps to control the amount of leucine in the diet. This is also done with a special metabolic formula that is leucine-free protein. Glycine and levocarnitine are also given to allow the isovaleric acid to bind to them to help the body excrete it.

Stephen is strictly fed through a G-tube. Caroline's diet is a little more liberal since she eats normally (by mouth). As kids get older, they are able to tolerate a little more protein. We weigh and measure foods to determine how much protein she is having. Routine lab work also tells us whether she needs more or less protein in her diet.

Yes, I do cook! I really don't do anything special when I cook. I just make sure that there are lower-protein foods available for Caroline to choose from when I cook.

Thank you for explaining.

I'm very lucky that my problem is extremely mild. I also am supposed to limit protein (fat also,) and I take levocarnitine. I tried the MSUD shake powder without isoleucine, but it sure tasted nasty. Insurance wouldn't cover it either, so...

Yesterday someone had an AMA about mitochondrial myopathy, and it was really interesting to encounter several other Redditors with one sort or another.

Yeah, I know a lot of parents of babies with MSUD struggle with the formula because of the taste. Luckily Caroline loves her formula! Sometimes it is hard to introduce those formulas to people who haven't grown up with it.

Good luck with your condition!

I have never heard of this disorder before. But I have some knowledge of newborn screening. In my family, PKU is a hereditary disease that is generally tested for in newborns.

As a person who is interested in having children soon and wants to ensure healthy living for my family, I'm interested in learning more about screening and what is generally screened. Also, what do you know about prenatal screening? Is there a prenatal screening for IVA?

Good question. Here is a great way to see what your state routinely tests for: http://www.babysfirsttest.org/newborn-screening/states

IVA can be detected during an amnio. I had an amnio when I was pregnant with Caroline because we had a family history. As I said in another answer, we didn't even know to look for it when I was pregnant with Stephen.

I'm really thankful I live in a state that tests for about 50 different disorders. We're really thorough I guess.

Good for you for knowing what your state screens for! I wish more parents were aware.

What should a parent ask about newborn screening when consulting their OBGYN?

You should chat with your OB and your pediatrician if you meet them before delivery. Ask what your state routinely screens for, when screening will happen in the hospital and how long it might take for results to come back. In the hospital, make sure the test is done -- it's just a little heel prick. Some states will do an additional heel prick at the baby's first check up. And most importantly, make sure you follow up on the results! Don't assume no news is good news. And take any abnormal results seriously.

well - if any of my questions are too personal, just don't answer.
you say 2 of your children have this trait - if you have other children have you had them tested to see if they are carriers? this is autosomal recessive, so both you and your husband have the non-working gene. - after you learned about it did both of you go back to your families and ask if other past babies might have had it too?
you sound like you have a great handle on the situation and i wish your whole family the best of luck.

This is not too personal -- thanks for asking, though. And thanks for the compliment!

We have 4 kids in all; Stephen is #3 and Caroline is #4. When Stephen was diagnosed in crisis, the first thing we did was test his two older brothers to make sure they didn't have IVA as well. They do not.

We have not yet done carrier testing on the older boys (ages 20 and 23) because they were so young when Stephen was diagnosed. But they are aware that such testing is available to them and we will support them if they choose to get tested.

In doing some family genealogy over the years we have learned that in each of our families there was a death of a toddler several generations ago. On my side there was an early toddler death due to a stomach virus. We'll never know if it was IVA, but it sounds strangely familiar.

Both my husband and I are carriers -- we would have to be in order to pass this onto our kids.

At what stage did you realise something was wrong? I would imagine that, as you describe the condition as severely mentally disabled, this would have been quite visible even at 18 months, 2 years etc?

Secondly, a really tough question but you're probably best suited to answer; knowing the struggles of raising a child with such a disability, if you knew (categorically and irreversibly) your child would be disabled, would that affect your decision to carry a baby?

I've had this discussion recently with friends/colleagues, however as we're Australian, issues of religion aren't really present, so that might away your answer.

Thanks!

Surprisingly, no, there were no clear signs. In retrospect, there was an episode at 18 months but IVA was missed. He was treated for rotavirus. He also self-selected his diet -- his early eating habits were probably a sign that we missed. But that's all hindsight. We didn't really know something was wrong until he just didn't wake up one day. He was 3 and a half years old. I went in to get him out of bed and he was unresponsive.

The most important thing to understand when answering your next question is that Stephen appeared perfectly fine. He was the happiest little boy! He was reaching milestones on time, developing normally, and there were no delays.

Newborn screening allows people to know about these conditions in the first days or weeks of a baby's life. That means intervening with enough time to prevent disability. We didn't have that knowledge or opportunity with Stephen, but we did with Caroline. ALL US STATES SCREEN FOR IVA NOW.

With Caroline, we did know ahead of time that she had IVA and we chose to continue. We knew she was at risk, but we also knew there was treatment that would help her live a healthy life. With a strict diet and medication, she is living a normal life. So we didn't choose to carry a disabled baby, we chose to treat her and carry a healthy baby.

I skimmed through your proof story, and saw the photo of Stephen in his wheel chair. Despite his health issues, are you still able to communicate with him? If so, how does he deal with what happened?

Good question. Stephen is nonverbal but he can vocalize, and just as we learned to communicate with him as an infant we learned to communicate with him despite his disabilities. Stephen's receptive language is better than his expressive language. Meaning he comprehends more than he can express. It has taken us years to fully understand that. Overall he's a pretty content kid, but will let us know when he's not happy or in distress. I think Stephen is easygoing and we have adapted our family life to work with his disability. Being included in our family life and giving Stephen opportunities for general life experiences makes him happy. Stephen loves personal contact!

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Caroline was a little surpirse to us. Given that Stephen has IVA, we knw we were carriers. It is an autosomal recesive gene, so both parents have to be carriers for the baby to be affected. Testing with an amnio allowed us to be prepared for her arrival with the proper diet and medications. No, I didn't have to do anything different with my diet during the pregnancy, since the placenta takes care of everything.

I see they didn't test your son because the test was not available at the time. Would it have been possible to send the samples somewhere else for testing?

Stephen was born almost 17 years ago. At the time, my state was only testing for 8 disorders (now they screen for 29). The newborn screening program has grown considerably which is great! At the time, though, IVA wasn't even a blip on our radar. We had no idea this was a possibility. So could we have gotten supplemental screening that would have looked for IVA? Yes, but we didn't know at the time that it was available to us nor did we know we even needed it. When I was pregnant with Caroline, we knew to look for IVA so she was actually first diagnosed through an amnio. The newborn screening test confirmed that diagnosis.

You mentioned that Caroline has a restrictive diet and has to have a measured amount of protein every day. How does that affect her social life? I know she is still young but can she go to a friend's house for dinner without worrying? What about lunches at school?

Caroline is allowed a certain amount of protein per day and it has increased as she has gotten older. Since she isn't a big eater, she can eat pretty much anything she wants. She is supplemented with a metabolic formula that contains protein without leucine (what she can't break down) and then takes glycine and levocarnitine that helps rid her body of the isovaleric acid. With all of the different diets these days, no one notices that she doesn't eat as much high protein foods.

I'll check out the blog if you are done answering, but I wonder what the preventive treatment is? Is it dietary like PKU?

One of the health issues I have is a mitochondrial myopathy which, as I understood the explanation, makes breaking down isoleucine a problem. There were shakes with it removed, and I know some people have to use them. That's why I am curious.

Your question came just as I was giving this answer to another person. See my comment above on treatment. If you have other questions, I'm still here!