Monday, April 11, 2011

What *Is* That?

As I said in my last post, I was toying with doing an update on my son's health for this post.

Because of the rareness of his condition, I've thought about it and decided to share.

Chances of a child getting SDS from carrier parents
While my husband and I are still awaiting genetic confirmation, it is believed my son has an autosomal disorder called Schwachman-Diamond Syndrome. While related to cystic fibrosis, it's not the same. Schwachman-Diamond Syndrome (or SDS) mainly affects the pancreas, bone marrow, and skeleton. While we're not sure about our little guy's marrow, we know it's affecting the pancreas and skeleton.

In a normal person, the pancreas excretes enzymes to help process foods. In an SDS person, the enzymes necessary to process fat (at least in our case) aren't present. These must be supplemented, which we've been doing for approximately a month. This is apparently part of the reason our son hasn't been putting on weight, and at 8 1/2 months old, has just barely doubled his birth weight (something that normally happens by the 4th month.) If you can't process half of what's in breastmilk, you can't grow. :/

As for his skeleton, we know that our son's ribcage is misshapen. I haven't had it fully explained to me, but there are other markers in his skeletal x-rays that are consistent with a percentage of SDS cases.

SDS is extremely rare. Our doctors say it occurs in about 1 in 75,000 people, which puts the numbers in America in the 4,000 - 4,500 range. One of my son's doctors has about five patients in our metro area (around 2 million people.)

More information about SDS can be found at the SDS Foundation website and Wikipedia.

So, what's this mean for us right now? Well, our little guy is getting intensive treatment from his doctors. He's seeing three specialists and we fully expect to get at least one more in the next month or so. Medications are being added to his regimen on a regular basis. And, after being on a feeding tube since Christmas, we had one doctor tell us he wants X-man (our son's nickname) off the tube. After thinking about this, I can see the reasoning. It wasn't necessarily that X-man wasn't getting sufficient amounts of food, it was the fact he couldn't process up to 1/2 of what he was receiving!

Obviously, this isn't going to be a walk in the park. He's at a higher risk for severe infections (like when he landed in the hospital in February with pneumonia,) leukemia, type-1 diabetes, and the need for a bone marrow transplant in the future. Whatever comes, though, I know I have support from our friends, family, and church, as well as a spring of strength from God.

Until next time,



Tracy Krauss said...

Thanks for being so open. This info will help those of us at a distance to pray for you and your son more effectively.

Liberty Speidel said...

Quite honestly, I just hope it makes others aware of this serious condition since it is so rare... and maybe encourages others in the SDS community!

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