Thursday, November 1, 2012

Genetics appointment and testing

We had quite the interesting morning with the Genetics counselor and specialist. First I'd like to say how SUPER nice they were and extremely thorough. They also did their homework (which made all the initial paperwork not seem for nothing) so while we had to talk a LOT before the physical exam, we were giving more detailed information about the events that they knew about (pregnancy, birth, illnesses, delays, growth etc).

The specialist came in, and boy, this man was friendly. His first sentence was, "well, they sure are cute, so that automatically cuts out 100s of possible issues". I didn't understand what that meant, but later - because they discussed the cuteness so many times - they explained that not all, but some of the disorders have a physical feature that can change the face just enough, to look 'off'. Not to say that those children aren't cute (I think they are!) but he just meant cute/handsome in the classic meaning. Simple things like eye or ear spacing and things like that. He said the only outward physical feature of something being 'off' was their size.
The good news is that they ARE growing, but they are definitely considered 'short stature' which is typically for those not making the charts. So that comes into play for some testing they had done today and an Endocrinologist that they'd like them to see to discuss possible growth disorders and options. We already know Jax had a 'growth disorder' while I was pregnant because of the knotted cord, which is called IUGR (Inter Uteran Growth Restriction) which constricts blood and nutrients to a growing fetus. And also lung disease really affects growth as well (as does malnutrition and absorption issues - all Jax). He said that IUGR very often causes mild to extreme medical issues and many learning issues (ick, that was awful to hear), and that even though Brady wasn't specifically 'IUGR' it's very probable that he had moments of blood flow interruption that could contribute to his 'difficulties'.

So the doctor gave the boys a physical exam, and looked over Jason and I a little bit. He said the boys have my pigmentation but most of Jason's facial structure (I hope they get his nose, ha!). Both the boys have a little bit of stiffness in their pinky fingers, which had to be noted, but I don't think it was anything too important. He tested my and Jason's fingers then and apparently I have it too, so there you go.

We discussed EVERYTHING for a good 90 minutes. He said he was extremely impressed how well Jax has come along after reading what happened to him the first two years. I asked how Jax could be diagnosed with an 'incurable disease' (CIPO) and now not seem to have it (although he does exhibit a very sensitive GI system still). He said that Jax probably had a lot of nerve issues and unlike adults, children can regenerate and improve their nerve function remarkably.
We talked about how Jax was thought to have Mitochondrial Disease, tested for it - which was inconclusive, but treated for it anyway with a natural supplement cocktail because of presenting symptoms. The Genetics Specialist said that all made sense, but we all agreed that since Jax has recovered SO much from being SO sick, it really doesn't fit the profile at all anymore.
The doc said that Jax had a chromosomal panel ran simultaneously with the mito testing back in 2009 - I had no idea! That test was all good, so that's a really good indicator for us, but I guess tests have come a long way already in the last 3 years, so it didn't cover everything they would like to see now.

So, what's the end result? I asked if it could all just be things that need to be worked out and not a genetic disorder and he said YES IT COULD, buuuut we need to do some tests. Yup, 'some' tests include:

TSH/Free Ty - Thyroid
IGFBP3, IGFBPI - Growth factors
Microarray
Fragile X
UOA-Urine
Bone Age - X-Ray
Complete Metabolic Profile
Electrolytes
(and see an Endocrinologist for their specific testing)

We discussed the fact that the speech therapists wants the boys to see an ENT and they said the boys absolutely should and we may find something that could help, buuuuut (there it is again) the doctor thinks it would be more for articulation for the level Jax is at. He said the extreme speech issue with Brady is beyond that and he suggested his colleague at the Child Development Center - which we are already on the wait list from, so the doc was really impressed with us ;)

He said that the final overall Umbrella diagnosis may end up being: Mono/Mono twins. Identical twins have 100x more chances to have medical and developmental complications, then add in the complexity of them sharing an amnio sac with knotted cords, and it's extremely higher. We shall see if this is the main factor with their issues...
The doctor sat right in front of me, put his hands on my knee and looked directly into my face (woah) and proceeded to tell me that none of this was my fault and I couldn't have done anything to change any of this. I seriously almost started to cry!

The boys were NOT happy to go to the lab. Jax kept asking "shot? cry?" so he was nervous. He went first and actually did really well. But then... Brady got so much anxiety, he RAN OUT THE DOOR and down the hallway. I was alone with the boys at this point and there was a moment of chaos. Brady was... well, the child was completely hysterical. He had blood drawn once in his life since NICU days, and he clearly remembered hating it. We made it through and they left with about 10 stickers on their shirts. Then we headed down to Radiology to get X-Rays of their arms to measure their 'bone age'. I learn something new every day!

I hauled the boys back to the truck and promised Happy Meals (obviously I eat Jax's meal and he gets the toy) as a treat for the long day and I drove them to school. Jax drank his milk in the parking lot and away we went.
One problem. The boys still had URINE BAGS taped to their genitals to collect a urine sample. UGH. So I had to bring them each into the changing room at their school and peel it off (no urine was inside) and they screamed so bad and left raw marks on them. What do I do?? Does anyone have a suggestion of how to do this? I didn't just leave the bags because once they go, I need to freeze the sample until I bring it back to the lab. I didn't want them at school for 3 hours with a taped bag of pee hanging off them. Seriously, these are the problems of the Lettenberger boys.

Help... I need samples and can't even stomach the thought of putting tape over their already raw skin :(

So to wrap up this unbelievably long post, I've made an appointment with an ENT for the boys for Nov 26, and am waiting for Endocrinology to call me back once they receive the Genetic's referral.
So we're waiting on tons of tests, which we're all kind of expecting to come back normal and to move onto the other specialty departments. You know... all our hope and faith come into play here while I silently pace for the phone calls.
Whew, Goodnight!

3 comments:

Rachel Marla said...

Randomly came across your blog while researching various medical conditions for work (I'm a nurse). For the raw skin issue - try Cavilon No-Sting Barrier Film. You wipe or spray it on and let it dry, then apply tape/adhesive over it. It provides a layer of protection to prevent skin irritation or tearing. We use it for wound dressings, and also for condom caths, so I know it works well on sensitive male parts, hah. You can order it online or probably find it at a medical supply store. Hope that helps :)

cat said...

Hi - I used to read your blog years ago when your boys were tiny little guys. Wonderful to see how far they have come along. And what an amazing doctor - I knwo every mom that has a child with issues should hear those words from a doctor.

One of my twin boys after being born at 37 weeks and 3kg still turned out to have issues - almost bilnd in the one eye and rahter severe SPD (sensory processing disorder) - it turns out with thwin pregnancies your chance for anything to go wrong is just so much more, and even more so with MOMO.

All the best for great progress

MFA Mama said...

My littlest (the one who used to have the g-tube) had to give a urine sample at the age of not-quite-two. I used the rigid plastic cylinder a 60-cc syrine came packaged in to hold under his little junk and seriously dipped his hand in a bowl of warm water. He peed. I froze it. And there was great rejoicing! Worth a try :)