Hudson & Hope

Isovaleric Acidemia

The last time we wrote an article for OAA, our children were quite young and we still felt a bit inadequate in caring for their metabolic needs.  A lot has changed in the past couple of years and I would like to share what’s new with Hudson, age 6 1/2 and Hope age 3 1/2. Hope was diagnosed with IVA by NBS and Hudson was tested and was found to have IVA shortly after Hope’s birth in 2002.

In 2004, our Metabolic Fellow, Dr. Regina Ensenauer, who worked under our Metabolic Physician at Mayo Clinic in Rochester, MN, was doing research on IVA. Because we knew Dr. Ensenauer and we were so interested in finding out just what mutation our children had, we joined Dr. Ensenauer and Dr. Vockley’s study. It took a long time to get the results back, but we did eventually learn that our children suffer from a mild form of IVA, as our Metabolic physician had suspected all along. They both have a mild and a severe gene, known as the A282V mutation; which we have been told can be potentially asymptomatic in some IVA children.  However, in our situation, we know that this is not necessarily the case, as Hudson struggled as an infant and toddler when his body would get stressed due to illness or well-baby shots. If you remember our story, you will know that Hudson was hospitalized several times before his diagnosis and he self-regulated his diet, refusing to eat high-protein foods, which he said gave him a headache (pre-diagnosis). Hudson always struggled to get over what others would refer to as a simple childhood cold or ear infection. 

​When the results of the study were revealed it really didn’t change too much in our children’s care. Hope remained on her formula, and both continued to be given a lot of latitude in their protein intake, due to their labs always coming back with low leucine levels. Hudson is currently not protein restricted, although he still self-restricts. He eats what he wants and his leucine levels always seem to remain in the neighborhood of 100. Hope is alotted about 45 grams of protein a day, but rarely takes that much in. Her leucine levels too stay in the area of 80-100. Because Hope has always been restricted, she is much more curious and will try foods that Hudson would never eat, such as shrimp or sausage, etc.  Both children eat a high carbohydrate diet, and although we offer lots of fruits and vegetables, Hudson doesn’t like to eat them either. He is a very picky eater but Hope is the best eater in the house, and the skinniest, I might add!

In August of 2005, Hope turned three years old; which was a big milestone for her. We had always struggled with her still taking her formula through a bottle, even though she would drink her juice or water from a cup. We talked at length with the team of therapists that worked with her and we’d tried everything we could think of to get her to drink it through a cup, to no avail. In August, we went back to the Mayo Clinic for the kids’ check -ups. At that time, our Metabolic Phyician, after collaborating with Dr. Ensenauer, and knowing how well Hudson did without formula, thought it would be wise to see how Hope fared without the supplement.  We had always had a hard time getting Hope to eat and we thought it was due to the fact that she wasn’t hungry, as the formula was doing what it is intended to do, provide the nutrients that IVA children do not get from table foods due to protein restriction. It was scary, but slowly, we started to wein Hope off the formula. It was a difficult transition for us, as most IVA’s are on formula and we didn’t have a lot of people to bounce ideas off of. It took approximately 4 months to wein her completely off, but she handled it like a trooper. What she missed most, was the bottle, not the formula. She has now been off formula for 1 1/2 years and she’s doing great. She is on the small side, weighing only 28 lbs. and is about 37 inches tall.

Hudson is just the opposite of Hope. He tends to run over the 100th percentile for weight and height and at 6 1/2 years old is 57 lbs and 47 inches tall. Hudson is in his second year of AAU wrestling and although he does tire easily, we try to offer lots of fluids to keep him hydrated. He still has low muscle tone, but that is starting to resolve with exercise.

Together, with several other IVA families, we started an IVA support website, http://www.ivasupport.org. We have been contacted by many parents who wish to communicate with other IVA families and are looking for support and information about their children’s disorder.  For those of you on the OAA listserv, you will obviously note that there has been a lot of IVA babies diagnosed by NBS recently. If you have not already done so, I would encourage you to involve your children in Dr. Vockley and Dr. Ensenauer’s IVA study. By doing so, you are contributing to research that will eventually help other IVA children and change lives. Dr. Ensenauer is the contributing metabolic physician for our website and she works closely with IVAsupport.org and OAA News to help families dealing with IVA. Dr. Ensenauer will also speak at our Metabolic Conference in Dallas, Texas June 23-24, 2006. I hope you can make it. I am excited to meet those of you that I have only connected with by email for the past 3 1/2 years.

In September of 2004, our physician nominated Hudson to receive a wish from the South Dakota Make-a-Wish foundation. His wish was to go to Disney World. Because his twin siblings, Hope and Haze, were still pretty little then, we opted to wait a year and a half to go on the trip. We just recently returned from Hudson’s wish trip. I cannot begin to tell you how much fun Hudson had on the trip. He was treated like a King, as were his siblings, at Give Kids the World, where we stayed. If your Metabolic Child has not been nominated for a wish, I would highly encourage you to contact your physician to be nominated. As I understand it, parents may also nominate their children, but a physician must sign off on the paperwork, which states that the child suffers from a “life threatening” disorder. After all the blood draws, hospitalizations, formulas, tube feedings and worry that goes along with it, your child and your family deserve the wish. Please contact Make-a-Wish in your state to get information. 

Lastly, I would like to thank everyone on OAA’s listserv for always being so helpful and supportive when we have posted questions pertaining to IVA. It’s so nice to have the expertise of all the other IVA parents. I have developed friendships with some IVA moms that I know will last a lifetime. I look forward to the day when my children can connect with yours and we can really share in the joy of FAMILY!!!

Matt & Kerri
Volga, SD 57071