Holt-Oram Syndrome

First of all, Eli continues to heal. He's a little slow about it, but still within normal time lines. The biggest issue they've had is with getting all the fluids out of his body. He'd been on diuretics for a couple of days, but they were only drying out his blood, not his body. Due to surgery, Eli has pretty significant edema, or "fluid swelling." Typically, the body will lose this fluid into the blood, where it is processed by the kidneys. Eli's body isn't doing a great job of getting that moisture into the blood stream, so it's just sitting in his body. Diuretics only work on the kidneys, so since the fluid isnt' getting to them, the diuretics aren't helping any. All the doctors are fine with this, it just means Eli needs more time. "He'll pee when he's ready," they say. There was, however, a very significant amount of fluid in his abdomen. In fact, they think this might be enough fluid to put pressure on the organs, especially the kidneys, and hinder their performance. So today they put in another catheter, in his abdomen. In only a couple short hours, it had already drained 210mL of fluid. So this is definitely a positive step.

Yesterday, we met with Dr. Powell, a geneticist. Eli's blood tests have come back positive for Holt-Oram Syndrome (HOS). We have yet to find out of this is related, influencing, or completely independent of his HLHS. We do know, however, that HOS comes in a frequency of 0.95 out of 100,000 kids. HLHS, by comparison, is 1:15,000. We're thinking about playing the lottery now.

We've also learned that HOS can either be hereditary, or spontaneous (de novo, as they call it). It can also be due to either a mutation, or complete absence of a gene(s). Eli is missing genes. This is not better nor worse than a mutated gene. It's simply different. The genes he is missing include TBX5, which is associated with HOS. It all happens at conception, it appears. We have 23 pairs of chromosomes, 23 from dad and 23 from mom. When those join, they line up in their respective order, like two halves of a ladder coming together (or the double helix). Within this, there are some 40,000+ genes that weave together to complete the whole process (I'm obviously simplifying this WAY down). So as all these genes were matching up, a few of them down "the long arm of chromosome 12" failed to match up. Imagine a ladder that had a rung attached to only one side. That entire rung falls away.

As we understand it (and please excuse the fact that we've only been given a cursory explanation ourselves), this mismatch and deletion can happen either because of random error (they just didn't line up correctly) or because either Tanya or I is a carrier, and our #12 is out of alignment, stuck to either #11 or #13. It seems spontaneous appearance is more common than inherited, so the odds are in our favor for being negative. Also, you can be a carrier without having any symptoms. The next step is for Tanya and I to be tested (small blood sample and 5-7 working days). If either of us is a carrier, that means we have an exactly 50% chance of passing this on to our kids. Eli got it, and we'll test Paige, though she shows absolutely no signs. If neither of us is a carrier, this was dumb luck, and we have no reason to test Paige. Either way, should Eli ever have children, he will definitely carry an exactly 50% chance of passing this on, himself. He, obviously, is a carrier.

We have a more in-depth meeting with Dr. Powell on Monday, and Tanya and I will have blood drawn. Until then, we're left without a complete grasp of what we're dealing with.

Also, just a little clarification and rumor control. People have come back to us with an understanding that Eli will be in the hospital 4-5 months. This is not accurate. Our expectations are 4-6 weeks from surgery, and he'll come home. We are expecting another surgery in 3-6 months, and we start this healing process all over. In that surgery, they will take the superior vena cava (SVC)(Eli incidentally has two) and plumb them directly into the lungs for passive flow through the lungs.

Eli has all ten fingers and toes. The only potential abnormality is triphalangeal thumbs. Only X-rays will show for sure. Our fingers are all built with 2 joints and 3 segments. Our thumbs are 1 joint and 2 segments. Eli might have thumbs that also have 2 joints and 3 segments. However, they are still opposed. Visually, they appear normal, though possibly a little longer than usual. We didn't even notice it until the geneticist pointed it out.

We'll continue to keep everyone as updated as possible.