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Today we went to the geneticist at Duke for our one-year follow up. We basically revisited the results from last time. Aiden either has one of two forms of IP (if you have no idea what I'm talking about, just visit the link above for details) - a very mild, "diluted" form OR a mosaic form. The mild would mean that he could pass this on, as it would be genetic. This would be something located in all of his genes, just in a very mild form. While testing showed negative for this type of IP, testing only covers 80% of the positive cases. This might mean a future daughter of Aiden's could end up a carrier for the condition. Aiden might never have any other symptoms than what happened when he was just a couple days old or a repeat in the same area but not in other places on his body. He might develop some minor issues, but they would be things that happen to people that don't have this condition, as well. The mosaic form...hard to say what that could mean. It could mean that he wouldn't pass it on, he might pass it on, he might or might not be infertile. It all depends on where during fetal development the mosaicism occurred. In case you're not picking up the vibe here...we still are dealing with a lot of unknowns - and some big unknowns.
Aiden playing with some cars and trucks in the waiting area at the hospital. They were attached so you could slide them but not take them off. As soon as he tried to pick one up, he looked at us and signed "please" because he wanted us to give them to him. He didn't understand they wouldn't come off and kept repeating the sign! He finally just started to push them around. You might be able to see in the first picture - he makes the "shhhhh" noise as he pushes them. (We made sure to wash hands well. Remember, cold and flu season is upon us!)
So, what does this mean? For Aiden? For us? What do we do?
Well, we don't know entirely what all it means. We know what we can know at this point. We have done all the testing that is available to us. In Germany, other testing is being created - testing that could one day possibly pick up IP whether it is in the known gene or another or even if it is a weaker version of the condition. This currently is not happening in the United States, but perhaps it will in a few years or so... Our doctor told us of one other person with this same issue as Aiden who is an adult at this time and at the age where he is wondering how this could affect possible children. He just spent a week with the NIH undergoing tons of testing. Hmmm... And there are clinical trials in Tiawan right now, too. Who knows what will be happening as Aiden gets older. For now, as Aiden's birthday approaches each year, we will simply email the geneticist to see if there is anything new we should know about. As an old teacher of mine used to say, "We'll cross that bridge when we come to it." And if we do.
For us...especially when it comes to future children, we're mostly in the "green." If Aiden has a milder version of the genetic form of IP, then we can be safe assuming that any other children might not get it or would also have a mild version. Why does this matter? Girls are affected much more severely than boys, so it matters if we were to have a girl. It isn't an issue at this point as much as if this was a genetic form that was more severe with Aiden. Also, boys usually are not even born with this because they miscarry (more of this information is in the link I provided above, so I'm not going into detail here). That does mean there could be a small chance of miscarriage with other boys we conceive. This also means that Aiden is a miracle baby to us. :) We feel very blessed to have him with us.
Other than contacting the doctor each year for possible updates, there really isn't anything else for us to do. If other trials, testing, etc are available, great. Otherwise, there is no need for us to go doing any more research (most of the information online can be kind of scary and is more focused on the severe cases). Our job is mostly to enjoy our child. That, of course, is a fairly easy job.
This is one of those Kohl's for Kids toys. One of the assistants gave it to Aiden when we had to wait for so long. I'm not sure which story it goes along with...or what it actually is. Anyone know? Either way, he loves it. He kept hugging it, then holding it out for me to hug, then hugging it again...
I wasn't able to take notes today. Our visits with the geneticist are quite information-heavy. When we had to wait for the longest time because she was with someone else, I couldn't help but remember how much time she spent with us the last couple times we saw her. I would say most people that come in to see her aren't in and out quickly. It's just not that kind of place. Anyway, I usually take detailed notes. Harder to do with a toddler in the room... So, I'm basing all this information on recall alone. When we get the notes they send us in the mail, I'll update anything if needed.