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April 4, 2012
We had our appointment with Dr. Gibson, the Metabolic Disorders Geneticist, today...and I just wanted to fill everyone in!
There were two metabolic disorders Dr. Gibson was focusing in on...now we're down to one. Since Matthew's blood ketone levels spike a relatively short amount of time after eating, he thinks Matthew may have a SCOT deficiency. It's not 100% set in stone yet, we're waiting on the gene sequencing we sent off today for the final diagnosis. The results will come back in six weeks, and then we'll know if this is it or not. Our other option for a diagnosis would have been to admit Matthew to the hospital for two days. They would have given him a high protein/fat diet the first day, and then a high carb diet the second day, and monitored his ketones to see what happened. Since the genetic test was less expensive, less invasive, and less of a hassle, it was really a no-brainer as to which one to choose ;) If it's not SCOT we're back to the drawing board. I feel so torn...I'd really love for it to not be a SCOT deficiency, but I also really want a diagnosis so that we can have a plan and move forward. Regardless of the diagnosis, Matthew's blood ketone levels are abnormally high (Dr. Gibson's eyebrows raised a few times, and he used the word "troublesome," when he was reading the ketone level journal I kept when Matthew started sleeping through the night). Management of Matthew's ketone levels will be similar to the management of SCOT deficiency, even if he turns out not to have it.
I don't want to get ahead of the diagnosis, because it may not be SCOT deficiency at all...that's why I haven't given any specifics on the disorders Dr. Gibson was considering in my previous posts. But I also know that you're wondering what in the world a SCOT deficiency is, and we have narrowed it down enough to test for this specific disorder, so I'll go ahead and give you SCOT 101 so that you'll know what we may be dealing with.
Succinyl-CoA transferase (SCOT) deficiency is an autosomal recessive disorder, which would mean that Nick and I both carry the recessive trait for this, and we both passed it to Matthew. Each of our children would have a 25% chance of having it, and if it turns out that Matthew does indeed have a SCOT deficiency, Abby will need to be tested too, to make sure that she does not have it as well. Remember, Matthew has shown no outward symptoms of this...the only way we caught that he has an issue is through blood work, and those tests have never been run on Abby. SCOT deficiency is an extremely rare disorder...the journal article that I found from 2004 identified just over 20 cases reported between the U.S., Canada, the U.K., France, Spain, the Netherlands, South Africa, and Japan. But there are probably more cases out there that aren't diagnosed...and they have probably found more in the last eight years.
If Matthew does have SCOT deficiency, this will be something he has to deal with for the rest of his life. Fasting will definitely never be an option for him. He'll need to eat frequently (every 2-3 hours), and be on a high carbohydrate, low protein and low fat diet to keep his ketone levels under control. If he plays any sports or even just exerts himself like normal kids do, we're going to need to load him up with carbs first, and make sure that he stops to "re-fuel" every hour. The real worry is when these kids get sick, especially with a respiratory infection, so we'll have to watch him closely when that happens. When their bodies are fighting off an infection their ketone levels tend to spiral out of control, sending them into ketoacidosis. This would cause him to repetitively vomit, become lethargic, go into shock, and if his symptoms are not treated promptly, he could end up in a coma (everything but the coma is very similar to a FPIES reaction). Treatment sounds fairly simple...as long as he gets IV fluids with glucose he could bounce back. So far (and I'm knocking on wood here), he's been super-healthy and only had roseola. Dr. Gibson said that between Matthew's FPIES reactions and his ketones, we pretty much have to head to the hospital if he vomits three or more times in a row. And luckily both disorders have the same remedy (IV fluids), so there's really no guess-work involved if he starts to vomit. But, even though the symptoms are similar to FPIES, Matthew definitely has FPIES...vomiting to rice on two separate occasions, ten days apart...it's just too coincidental to NOT be FPIES.
And this is where the planning gets tricky, because most of the foods Dr. Gibson would recommend for Matthew to eat to keep his ketone levels under control are BIG FPIES no-no's. Like rice, oats, and barley...complex carbohydrates that have the ability to keep ketone levels down for hours. So, if it's SCOT deficiency, we're going to have to work around the restrictions FPIES has added to meet his dietary needs (at least until Matthew is three). That's why we wanted to trial corn, and Dr. Gibson was excited about having Matthew add corn to his diet. Potato is the most complex carbohydrate in Matthew's diet right now, and corn would be WAY better for keeping his ketone levels down. We have an appointment scheduled with a dietitian next week to work on a trialing schedule...she'll have her work cut out for her, trying to come up with foods that will meet the nutritional needs of a toddler who requires a high carb diet while avoiding grains, meats, and legumes :)
In other news, we're calling the Gefen Potato Noodles a pass, so YAY for safe noodles! We're almost done with the corn trial, too...just one more day, then a three day break. Every one of Matthew's fails has happened after taking a break from the food, so we don't consider anything a pass anymore unless he can tolerate it after the break. As long as he survives corn on Monday, we'll have a new safe food! This has been such a fun trial...he's had polenta, kix, corn chex, popcorn, corn on the cob, and plain old kernel corn so far. Please, say a prayer or cross your fingers...we really need this one!
Have a Happy Easter, everyone :)
There were two metabolic disorders Dr. Gibson was focusing in on...now we're down to one. Since Matthew's blood ketone levels spike a relatively short amount of time after eating, he thinks Matthew may have a SCOT deficiency. It's not 100% set in stone yet, we're waiting on the gene sequencing we sent off today for the final diagnosis. The results will come back in six weeks, and then we'll know if this is it or not. Our other option for a diagnosis would have been to admit Matthew to the hospital for two days. They would have given him a high protein/fat diet the first day, and then a high carb diet the second day, and monitored his ketones to see what happened. Since the genetic test was less expensive, less invasive, and less of a hassle, it was really a no-brainer as to which one to choose ;) If it's not SCOT we're back to the drawing board. I feel so torn...I'd really love for it to not be a SCOT deficiency, but I also really want a diagnosis so that we can have a plan and move forward. Regardless of the diagnosis, Matthew's blood ketone levels are abnormally high (Dr. Gibson's eyebrows raised a few times, and he used the word "troublesome," when he was reading the ketone level journal I kept when Matthew started sleeping through the night). Management of Matthew's ketone levels will be similar to the management of SCOT deficiency, even if he turns out not to have it.
I don't want to get ahead of the diagnosis, because it may not be SCOT deficiency at all...that's why I haven't given any specifics on the disorders Dr. Gibson was considering in my previous posts. But I also know that you're wondering what in the world a SCOT deficiency is, and we have narrowed it down enough to test for this specific disorder, so I'll go ahead and give you SCOT 101 so that you'll know what we may be dealing with.
Succinyl-CoA transferase (SCOT) deficiency is an autosomal recessive disorder, which would mean that Nick and I both carry the recessive trait for this, and we both passed it to Matthew. Each of our children would have a 25% chance of having it, and if it turns out that Matthew does indeed have a SCOT deficiency, Abby will need to be tested too, to make sure that she does not have it as well. Remember, Matthew has shown no outward symptoms of this...the only way we caught that he has an issue is through blood work, and those tests have never been run on Abby. SCOT deficiency is an extremely rare disorder...the journal article that I found from 2004 identified just over 20 cases reported between the U.S., Canada, the U.K., France, Spain, the Netherlands, South Africa, and Japan. But there are probably more cases out there that aren't diagnosed...and they have probably found more in the last eight years.
If Matthew does have SCOT deficiency, this will be something he has to deal with for the rest of his life. Fasting will definitely never be an option for him. He'll need to eat frequently (every 2-3 hours), and be on a high carbohydrate, low protein and low fat diet to keep his ketone levels under control. If he plays any sports or even just exerts himself like normal kids do, we're going to need to load him up with carbs first, and make sure that he stops to "re-fuel" every hour. The real worry is when these kids get sick, especially with a respiratory infection, so we'll have to watch him closely when that happens. When their bodies are fighting off an infection their ketone levels tend to spiral out of control, sending them into ketoacidosis. This would cause him to repetitively vomit, become lethargic, go into shock, and if his symptoms are not treated promptly, he could end up in a coma (everything but the coma is very similar to a FPIES reaction). Treatment sounds fairly simple...as long as he gets IV fluids with glucose he could bounce back. So far (and I'm knocking on wood here), he's been super-healthy and only had roseola. Dr. Gibson said that between Matthew's FPIES reactions and his ketones, we pretty much have to head to the hospital if he vomits three or more times in a row. And luckily both disorders have the same remedy (IV fluids), so there's really no guess-work involved if he starts to vomit. But, even though the symptoms are similar to FPIES, Matthew definitely has FPIES...vomiting to rice on two separate occasions, ten days apart...it's just too coincidental to NOT be FPIES.
And this is where the planning gets tricky, because most of the foods Dr. Gibson would recommend for Matthew to eat to keep his ketone levels under control are BIG FPIES no-no's. Like rice, oats, and barley...complex carbohydrates that have the ability to keep ketone levels down for hours. So, if it's SCOT deficiency, we're going to have to work around the restrictions FPIES has added to meet his dietary needs (at least until Matthew is three). That's why we wanted to trial corn, and Dr. Gibson was excited about having Matthew add corn to his diet. Potato is the most complex carbohydrate in Matthew's diet right now, and corn would be WAY better for keeping his ketone levels down. We have an appointment scheduled with a dietitian next week to work on a trialing schedule...she'll have her work cut out for her, trying to come up with foods that will meet the nutritional needs of a toddler who requires a high carb diet while avoiding grains, meats, and legumes :)
In other news, we're calling the Gefen Potato Noodles a pass, so YAY for safe noodles! We're almost done with the corn trial, too...just one more day, then a three day break. Every one of Matthew's fails has happened after taking a break from the food, so we don't consider anything a pass anymore unless he can tolerate it after the break. As long as he survives corn on Monday, we'll have a new safe food! This has been such a fun trial...he's had polenta, kix, corn chex, popcorn, corn on the cob, and plain old kernel corn so far. Please, say a prayer or cross your fingers...we really need this one!
Have a Happy Easter, everyone :)
