rare metabolic genetic disorder page

[mtnbikemama]

My 4 year old nephew was diagnosed with a metabolic disorder at birth. Only 19 known cases and 1 survivor past age 5 (in 2009). He cannot metabolize fat. His diet is all fat free processed foods, fruit, veggies. My sis in law feeds him every 2 hours and he gets special formula 1-2 a night. They allow 10 grams of fat a day and he has to take an enzyme pill to metabolize that. This of course goes against how we eat, but is there another way for him? Any biochemists around this forum?

[Crabbcakes]

If your poor nephew is one of only 19 children to be diagnosed with this condition, and the doctors your nephew went to were ABLE to give him this diagnosis, they are honestly in a much better place to serve him than we are.

I wish I could give you a sunnier answer, but rare metabolic conditions belong in the hands of metabolic specialists.

[jammies]

That sounds very rough. It is hard for me to imagine a way for this child to eat other than what he is getting. I guess he would not need to have processed foods and could theoretically become gluten free. But I don't see any way around the eating all the time. He needs a steady influx of glucose since he cannot tap in to any fat stores for energy. Perhaps some super low fat protein sources would be safe?

In this particular case, I might say that it may not be a great idea to mess with his recommended diet. Anything that keeps his safe and comfortable for the time he has is probably the best anyone can offer. The only other thing I can think of is to see if there are any experts in this area (geneticists/biochemist physicians) that could offer more hope?

So sorry.

[SteakNchop]

I'm not a biochemist, but I do have some decent food ideas:
fat free yogurt and milk...go ahead and toss in some sweetener and berries if need be
boneless skinless chicken breast, turkey breast, super, super lean ground beef and very lean cuts

Generally, steer away from the processed foods in favor of the same food in a homemade version. You can still hit the same macros. (feels funny to say that about a two year old)

Meal ideas:
White rice and chicken breast
White rice pasta with tomato sauce (make your own without any oil) and leanest as possible ground beef meatballs. (leanest I've seen at stores is 96/4, but you can find stuff like this online.
Fat free grain products, just sub gluten-free, low toxin grains like white rice flour and sorghum.

[yodiewan]

What is the name of the disease? I know that MCTs (medium chain triglycerides) are metabolized differently from other fats. I'm guessing if those were OK, they would be part of his diet, but it never hurts to ask.

[Neckhammer]

If your poor nephew is one of only 19 children to be diagnosed with this condition, and the doctors your nephew went to were ABLE to give him this diagnosis, they are honestly in a much better place to serve him than we are.

I wish I could give you a sunnier answer, but rare metabolic conditions belong in the hands of metabolic specialists.

Yeah, I've gotta agree with this....with the caveat that they go ahead and ask about the MCT oil that yodiewan mentions. Best wishes for your family.

[marthat]

From the bit of research I did on Wolman's disease, it sounds like the longterm problems come from fat storage and deposition in organs when it can't be metabolized. The MCT's may be helpful, but there's nothing in the online resources about using them. And you won't want to use even very low fat products like the 4% beef, as that will still be too much fat over the long haul. A formulated tube feeding product will likely be the best solution to meet basic nutritional needs, with oral intake just for taste and enjoyment.

What a terrible thing for your relatives and that wee boy!

[mtnbikemama]

Thanks for the helpful suggestions everyone. I will pass these on to my family and they can discuss with his doctor. I will ask my sis-in-law the name of the illness yodiewan. I'm going to point her to MDA and a few other websites bc she has personally attempted LC with the Atkins diet and might be more inclined to continue a different diet lifestyle without all the products.

I really enjoyed the post on Autism. Wonderful to see how Primal/Paleo living can help!