Tuesday, September 6, 2011

Update From Our Cleveland Clinic Trip: Genetics


We are back from the Cleveland Clinic - an absolutely amazing medical center. Nolan was amazed by the fountains and the landscaping everywhere - there's a reason they call this place "Medical Disneyland." The top-notch doctors make this place truly wonderful.

We saw the geneticist and the genetic counselor, who looked at Nolan's (extensive) medical history and at Nolan himself. I will say up front: there is no "Eureka! We found it!" moment coming up here - so this will be a long post detailing the general thoughts and impressions from the team at the Clinic.

First off, Nolan is definitely medically complex. There are a lot of things going on, obviously, and some things can be considered "birth defects" (the posterior urethral valves and the hearing loss) and some can be considered progressive (the acid reflux with increasing intensity, the laryngomalacia, the hearing loss, the vision). Some things are entirely new to us. Both the geneticist and the pediatric resident heard a distinctive heart murmur.

Nolan's echocardiogram a year ago was declared "normal." No one has ever detected a murmur before. It is likely he has developed a new issue, but the geneticist is requesting his echocardiogram from last year to confirm that this is a new development. If it is a murmur, the location of the murmur suggests that it is a mitral valve prolapse. This is generally a fairly benign murmur that doesn't need surgical correction, but it will need monitoring. We'll see where this one goes.

Hanging out in genetics

The geneticist went over Nolan's issues. Some "separate" issues are really linked together, because one issue causes the other. The truly separate issues are:

1. Hearing Loss

2. Myopia, Astigmatism, and Anisometropic Amblyopia (vision)

3. Severe reflux -Laryngomalacia - Obstructive Sleep Apnea - Chronic ear infections/upper respiratory infections

4. Posterior Urethral Valves

5. Heart Murmur, probably mitral valve prolapse (new)

6. Hyperextensible joints with mild hypotonia

Obviously, this many issues isn't exactly coincidence. On the other hand, there is no comprehensive diagnosis that fits his issues. The geneticist did feel that he should have a genetic microarray done, to rule out minor chromosomal deletions and additions that can cause issues for some kids.

She did warn us that the test will probably come back as "normal," however, because the majority of chromosomal rearrangements and deletions cause cognitive and developmental issues. Nolan has no cognitive issues, which makes a chromosomal problem less likely. We do need to run the test, though, because other things cannot be considered until this test is done and his chromosomes have been checked out.

The microarray was drawn this afternoon and we should have the results in about 2 weeks.

She did say that Nolan was doing well developmentally, so while he is medically complex, he is also very "normal." Which is wonderful to hear... though we do wish there was a way to treat the medical problems he does have (and stop new ones from cropping up)! Essentially, we will have to monitor him on an annual basis and see if new issues keep cropping up.

Heading out: happy to get to the car!

As for the reflux, we have no idea why it continues to increase in severity. We asked her opinion on the fundoplication, and there really isn't a right or wrong answer. If his lungs are definitely affected, we should do it. If it is just the apnea, we should probably stick with C-Pap and try to make it work. If he starts having difficulty maintaining weight, we should do it. Since he has re-gained his weight back to 32.4 pounds (woot!), we might consider holding off.

She did tell us to consider the following very carefully: with Nolan's history, we should be prepared for a fundoplication to completely fail in its goal to eliminate apnea. While it may work, there is no guarantee that it will be successful in controlling the apnea. We could very well do a fundoplication, and then still need to use a C-Pap for Nolan. And we will always have to use anti-reflux meds for him. So really, if the reflux starts attacking his lungs, voice, or ability to grow... we should do the fundoplication. If the reflux is just causing the apnea, we would be better off controlling that with the C-Pap. It will be an ever-evolving judgment call: with progressively worse reflux, our decision to hold off on the fundoplication may have to be reversed as new complications arise.

She also said that his fatigue and stomach pain is an inescapable component of his condition. He has apnea - he is going to be tired until it is well controlled. Controlling apnea with severe reflux is difficult, so he will likely struggle with fatigue. While a little depressing, it is realistic: he has a chronic condition that we will have to cope with, because it is unlikely that it can be "fixed."

His stomach pain comes with the acid-reflux territory. His gut doesn't work right, and he's going to hurt a lot. Again, he will have to develop coping mechanisms for this, and we'll have to try to keep on top of the anti-reflux meds as we have always done. A fundoplication will not fix the mysterious stomach pain (which is likely due to delayed gastric emptying).

Her input was valuable. For now, we will probably hold off on the fundoplication and work harder to make the C-Pap work for Nolan. But our decision may change, based on what the reflux does to his little body.

As for now, we just wait for 2 more weeks to see what the microarray shows.

9 comments:

Herding Grasshoppers said...

Wow, Leah. Once again I find myself thinking that by the time your kids grow up you ought to have earned a medical degree!

That's a lot of information for you all to absorb and decide upon, but you always impress me with your clear thinking and the way you work for your kids' best.

Still, it's got to be stressful and exhausting. Wish I/we were nearer and we could have a stress-relief evening! (I could use one too, about now, for much more minor reasons!)

Julie

leah said...

It was an interesting visit. There is one syndrome that fits a LOT of Nolan's issues, and his face fits the "profile" for that syndrome with the low nasal bridge/flat facial profile. There is one major issue that is missing, though, so the geneticist can't label him with that syndrome (it is a connective tissue disorder). I have to talk to the ophthalmologist tomorrow to make sure we have absolutely ruled out the one characteristic, because the one syndrome would fit everything else very tidily.

I do feel better about a lot of things, though... despite the emergence of the heart murmur, Nolan is remarkably "normal" in so many ways - so we'll just have to work on ways to cope with the problems (tummy issues and fatigue) and focus on the normal development and bright little mind he has!

bioniclissa said...

I hope the microarray shows something so you have a clue what it is and know how to help Nolan!!

Kyla said...

I always find genetics appointments mildly exhausting. LOL. But the input is usually very worth it! As for Nolan's issues, KayTar is with him on #1, part of #2, part of #3, and #6. ;)

I'm always thankful that while we do have these medical issue to deal with, KayTar is overall a happy, intelligent, and hilarious kid. It makes the unknowns so much easier to handle.

TheSweetOne said...

Sounds like an encouraging appointment over all. Glad to know Nolan is on track developmentally. More than anything we want our kids to be able to survive and cope in the world. Knowing they'll have one less hurdle to jump eases the burden. Not much, but just enough.

xraevision said...

I'm glad to hear that you had a generally positive experience at the Cleveland Clinic. It's always encouraging and refreshing to have the opportunity to talk to new experts about our kids, no matter what opinions or results arise. I think the more professional help you can find for Nolan, the more carefully you can contemplate his future treatment. Good work at pushing for this appointment!

Kristen@nosmallthing said...

Wow. It has been a while since I've been able to go blog a-vistin'...I have missed a lot.

It sounds like you have a great handle on all of this...you explain it very very well, and all of it makes sense.

I hope as time passes you get some good answers, and I hope the apnea can be controlled. He (and you!) will be in my prayers!!!

Julia said...

What a mixed bag -- a few leads and some good (if inconclusive) advice regarding the fundoplication, but a few depressing elements, too. I'm so glad you're finally seeing someone who is really looking at the big picture and trying to piece it all together.

rouchi said...

I think you got a lot of your questions answered and now need to work around them to find solutions to many issues.It is an exhausting list and I really hope things work out for both of you.You are a brave and hands on mom!