Not exactly what we thought...

Well, today we took the boys in to meet with the geneticist. We were hoping to get a "yes" or a "no" on whether or not they have Maple Syrup Urine Disease (MSUD)...we were definitely NOT expecting what we were to actually find out...

At this point, there is no CLEAR answer as to what they have...but the organic acid analysis on both boys suggest they DO have a rare and life-threatening metabolic disorder. Because the enormous amount of red flags point towards a Fatty Acid Beta Oxidation Disorder (LCHAD, MCAD/MCHAD, etc.), they are focusing there. We will just call this FOD for now, since the exact one has not been nailed down. FOD is easier to deal with than MSUD because they can eat a lot more foods. But like MSUD, a minor cold or ear infection can lead to a crisis. The nemesis of FOD is vomiting...any type of fasting can send them into a crisis. We were lucky to discover this in the manner we did...20-25% of patients that have FOD and are NOT diagnosed at birth usually die during their first crisis. Because we caught this before a crisis, their chances are very good. And like MSUD, FOD is an inherited disorder...so our new baby on the way has a very high chance of not only having this disorder, but having a more severe form...Wil and Josh might have a mild form.

It turns out that the lab FORGOT to test Wil's blood for MSUD...but both boys will undergo the same amino acid and organic acid analysis. But like the doctor said, "MSUD is the small fish...we have bigger fish to fry". Wil will also undergo more in-depth chromosome testing because the doctor noted some physical irregularities that may be linked to his delayed speech (but his delays may also be related to FOD). They want to test Billy and me, as well.

We will also be seeing a metabolic doctor after the labs come back. Wil's chromosome testing will take a month to get results since the facility they use is out of state.

Your prayers and patience is MUCH appreciated! We ask for continued prayers...not only will it take a while for an exact diagnosis...but this condition is lifelong.

We believe God will use this for good...we might be able to touch lives in ways we couldn't before. Our goal is to allow the boys as normal of a life as possible =)


Blessings,
Melissa, Billy, Wil, Joshua, and baby

Being Referred to a Geneticist

Well...I just heard from our pediatrician who says he is referring us
to a geneticist when he returns from vacation on the 21st. No other
details were given. I don't know what to think about this. I know we
would be referred to a geneticist if they do have MSUD (or other
genetic disorder)...I can't think of a reason why we would be referred
to a geneticist if everything turned out normal. I'm still trying to
process this information...I don't want to read too much into it. But,
as an RN, I know that doctors do not give out referrals to specialists
unless there is a concern that may require their expertise.

I praise God because I know His hands of protection are on our sons!
Please pray for our peace...waiting is hard...and it looks like we
might not get a definitive answer until February.

Good news...but...

We finally got some results back from the DNA/Chromosome Analysis...that showed that Wil does not have Fragile X and an array of many other possible things we were concerned about. It is possible that the Chromosome Analysis may not have been at a high enough resolution to analyze the specific locations where MSUD mutations normally occur (the Chromosome Analysis was ordered to look for other things and not MSUD). And, we don't have the test results for the specific tests that rule out MSUD (organic acids, amino acids...which can still be normal in the Intermittent variant of MSUD)...if these acid tests are normal, we will ask for an Enzyme Assay to see how much enzyme activity they have (this should be the final determination to see if they have MSUD).

So, we are still waiting...but happy that the results we've seen, so far, look good! Thank you for your continued prayers!! The boys are doing well and are as energetic as ever! I'm doing well with this pregnancy...just some fatigue and no morning sickness.

Thank you all!

Still waiting...

To all our faithful prayer warriors!

I'm writing to let you know that none of the results are back, yet.
God has definitely showed me that I lack patience...and through this,
He is teaching me how to be patient. Even though the doctor said the
results would be back in a week (which was this past Monday), we are
aware that chromosome analysis is delicate and time consuming...we
would rather them take longer and be accurate than be quicker and miss
something important!

As for the boys, they are doing well! They are even tolerating the
low-protein diet I've been making them...but Wil REALLY misses ice
cream.

We do have some news that can use some additional prayer! On the day
the boys were tested, we found out I'M PREGNANT! We were definitely
trying for #3...until the possibility of the boys having MSUD came up.
In addition to praying for Wil and Joshua, please pray for this new
little baby...if Wil or Joshua has MSUD, this one would have a very
high chance of being born with the most common and deadly form of
MSUD.

Thank you for your prayers! God bless you all!

~Melissa, Billy, Wil, Josh, & ?

NO RESULTS, YET!

it's beginning to drive me insane...just the waiting...thank you for your prayers!