Saturday, May 15, 2010

Long Overdue

Hey y'all. Yes, we're still here! I apologize for making some of y'all worry about Ethan's results from the geneticist; it has been an absolutely crazy week for the Tri Mulli.

For starters, Ethan spiked a fever of 103 last Thursday night and neither Tylenol or Motrin would bring it down. We took him to the pediatrician on Friday, who sent us to the ER, who ran all sorts of tests to make sure the bone infection wasn't trying to make a comeback, only to be diagnosed 8 hours later with hand, foot, & mouth disease. Yes, our pediatrician should have most definitely caught that while we were there Friday morning and, yes, we are currently looking for a new one (for real this time). If you, or anyone you know, has a great pediatrician in the Raleigh area who has experience with special needs babies, please. Please. PLEASE let me know!

Because of that day of "fun", we never actually made it to our appointment with the geneticist. I called them early Friday morning to explain how sick Ethan was and to ask if just Jeramie or I could come to the appointment without him. To that, the nice lady replied, "Well, honey, I can just give you the results over the phone." Really?! Because we've only been waiting since November of last year!

She proceeded to tell me that the genetic testing showed normal/negative variations in the TBX5 gene, which is located on the 12th chromosome. Mutations in this gene are known to cause Holt-Oram (hand & heart) Syndrome. Due to Ethan's orthopedic and cardiac defects, this is the syndrome that he has been loosely diagnosed with. However, now that we've received normal results, we're kind of back to square one. This is great news, in theory, but it's not 100% accurate. For the research that has been done on Holt-Oram, and the known mutations, we know that Ethan does not possess it. However, since this is such a rare syndrome, there is not tons of research on it, and mutations could exist elsewhere (other than in the T-box area). Basically, in order to find out if Ethan truly does have Holt-Oram, we would need more extensive (read: expensive) testing, some of which doesn't even exist yet.

It is pretty safe to say that neither Jeramie or I carry this mutation for Holt-Oram, because it is autosomal dominant. This means that for us to have passed it down to Ethan, one of us would show characteristics of this syndrome. Since we don't, the chances are pretty low that we would be able to pass this along to a (possible) 2nd baby. Also, the chance of this being a de novo mutation (a genetic mutation that neither parent possessed nor transmitted) is 85%. According to my genius friend, Dana, this is incredibly high in the genetics world, and should be very encouraging to us.

So, it definitely sounds like Jeramie and I have a lot of talking to do. I've mentioned before that we wanted our children spaced about 3 years apart before all of this with Ethan ever happened, so we've got plenty of time to make a decision and still be within our desired "window". We covet your prayers as we dig deeper to learn more about this syndrome, seek advice from friends, family, and medical staff, and begin to make decisions that will have a huge impact on the future of our family.

Oh, and did I mention that Ethan was diagnosed with croup on Tuesday?

Yeah, it's been that kind of week.


Kim Smith said...

Thanks for posting, Joye. I've been praying for you guys and wondering what you found out all week! Love you!

Stefenie said...

Glad you got the results of the genetics test but I sure am sorry that Ethan is sick again. Poor kiddo!!!

Praying things get better soon! You guys deserve a little break! {{{HUG}}}

Jesse Smith said...

Joye, you and Jeramie make such great parents. Whether you choose to have more of your own or to adopt one day, I would love to see you guys have more kiddos! I have learned in the past 6 months that no matter what medical technology is out there, sometimes things just can't be explained other than to give the glory to God. I am certain that God will never give you more than you can handle and if He feels it's right for you to have more children, that day will definitely come and they will made in His perfect image. Ethan is an awesome kid that has brought so much joy to everyone's lives that have met doubt any future child you have will do more of the same! Love ya, Jesse

Related Posts Plugin for WordPress, Blogger...