Essary 4.0: Genetics, and Dinosaurs, and Bears, Oh My!!!

I realized I never posted the outcomes of our dr appointments from a couple of weeks ago, so I'm playing catch-up. First we had an appointment with Korban's autism specialist in Southaven. She usually sees him every couple of months. We just talked about how he's doing and about his recent stay at Lebonheur.

We also talked about his skin-picking. It's still quite severe, and he has bruises and scabs all over. It hurts me to look at it, and I can't wrap my head around how he just does this to himself. It's been ongoing for nearly a year now, and nothing we've tried has made a dent in this behavior. Replacement behaviors have not worked--I have to keep constantly redirecting him to whatever it is I am putting in his hands for him to play with. Generally, something like this is much harder to break if the child is doing it because they actually enjoy the sensation. I had read online about how sometimes people use a numbing spray and that helps decrease the sensation, thus decreasing the skin-picking. We talked to the dr about this and she promised to look into it. The trick will be finding something that is safe to use repeatedly over a large area, because he picks at so much of his body. For example, many numbing sprays are alcohol based and we don't want that to absorb into his skin. I don't imagine he would be a very nice drunk. Ha!

After that appointment was over with, we loaded back up in the van and headed straight for Jackson, MS. Korban had an appointment with his geneticist the next morning, and they had graciously agreed to let us stay at the Ronald McDonald House in Jackson. So we made it down there between 8-9:00 p.m. and the kids were excited to get to stay in a "hotel." We were finally able to get them to wind down enough to go to sleep.

We usually see Korban's geneticist once a year; however, we hadn't seen him since Selah was a baby because he had been acting as chief of staff of the children's hospital and not seeing any patients for a while. It's also pretty hard to get an appointment with him, as he has a high number of patients.

Some of you may be wondering why we see a geneticist in the first place--that probably isn't common practice for many kids with autism. It's a case of one referral leading to another, and each dr finding a small piece of the puzzle so to speak. The first dr we saw at the children's hospital in Jackson was the Child Developmental Specialist. She is the one who ultimately diagnosed Korban's autism, although that took several visits. At the first visit though, she noticed that his muscles were stiff and shaky, so she made an appointment for us to have an EEG. The EEG showed some underlying seizure activity, which bought us an appointment with a pediatric neurologist. When he was taking Korban's medical history, he thought the developmental problems along with the seizure activity, plus the urinary tract birth defect Korban was born with all raised a red flag for a chromosomal or genetic issue. He ordered a blood test called a micro array, which basically looks at a person's chromosomes and checks for any abnormalities. Korban's came back with a small deletion on chromosome 15, which then earned us a referral to the geneticist. So you see how all of that works?

The geneticist is probably my favorite dr at the children's hospital. You can tell he is a brilliant, brilliant man, but he is very kind and easy to talk to. He has an excellent bed side manner. All the genetics stuff just blows my mind. I'd love to spend a day in his office just listening to him talk about all that stuff. I'm sure I wouldn't understand much of it, but I still think it would be interesting!

At all of our appointments at the genetics clinic, we have met with the geneticist and also a genetic counselor. At the first appointment they explained to us that Korban's deletion was not in the same area as a known disorder, and that they would like to test us to see if it was something handed down from his parents. We agreed to this right away, and they explained that they would check one of us first and if the deletion wasn't found they would move on to the next parent. (It's an expensive test!) They usually start with the mother, so I had my blood test done that day. It takes about 4-6 weeks to do the micro array and receive the results, so we were in for a bit of a wait again. We finally got the call that nothing had shown up in my array, and that it was time to move on to Brad.

About a month after he had his done, the genetic counselor called him to tell him that he had the same deletion that Korban has. So it was passed down from Brad to Korban, and since Brad is unaffected by it they ruled it a benign family trait. It was explained to us that lots of people have little things like this going on but most never know it because it doesn't cause specific problems. My question was, did the deletion make him more vulnerable to things in his environment that maybe tipped the scales toward autism? The answer: Maybe, but we don't have enough technology to know at this point. Most researchers agree that autism is generally caused by a combination of genetics and environment but we still don't totally understand how this works.

We expressed to the dr and the counselor that we wanted to have more children, and asked them about the chances that any future children of ours would have autism or any other disabilities. The dr said that since the deletion was "benign" he wouldn't worry too much about that. He estimated us to have about a 5% risk of any more of our children having autism. Which meant that he thought there was a 95% chance that any more children would be healthy! We already knew we wanted more children, so whatever he said wouldn't have deterred us, but I couldn't complain about those odds too much.

Fast forward to Selah of course, and she is healthy. I have been asking since she was born if they were going to do a micro array on her, but they decided to wait to see if she showed any delays or other symptoms. At our last appointment with the geneticist, he held Selah and looked her over and said that if anything he thought she seemed advanced. I remember him saying "Well, she's a girl, so that's one thing she's got going for her!" (Did you know that girl babies are generally healthier than boy babies? I did not. Boys are much more likely to be affected by autism, as well as other disorders.) So he wanted to hold off on doing the array.

This was our first visit with him in about two years, and I brought him up again. He made the decision to go ahead and do the array on Selah. He explained that it wouldn't really tell us much about her, since we already know she is healthy, but that it might provide some information about Korban. For example, if Selah also received the deletion passed down from Brad, and she is unaffected, they would lean more toward the deletion being completely benign and unrelated to what is going on with Korban. But if she doesn't have the deletion, they would lean more toward it perhaps being a causative factor.

We explained to the geneticist that the neurologist at LeBonheur made the decision to repeat the micro array on Korban while he was a patient there. His reason was that technology had improved so much in the five years since Korban's first array, a new one might pick up on something that the first one missed. The geneticist agreed that this was a good idea, and asked that we send him a copy of the results when we got them.

Right away, the geneticist and the genetic counselor noticed all the marks from Korban's skin-picking. We talked to them about that and about his anxiety, which we feel is the root of the skin-picking. The geneticist explained to us that there are some genetic disorders which cause severe skin-picking and that Korban's raised that question in his mind. If it was something like that, generally it would've been diagnosed with the first array, but he said that they would isolate the particular gene and take a closer look at it.

That meant that both of our kids ended up needing bloodwork. Necessary, but not fun! Brad took Korban in the lab first, while I sat in the hallway with Selah to wait her turn. So I had one kid screaming in the lab and one kid screaming outside the lab. A nurse from down the hall came by and saw Selah out in the hall wailing nervously. Korban could be heard (loudly!) from inside the lab, so the nurse shut the door in an effort to make it easier on Selah. "That's her brother," I said morosely while still trying to comfort Selah. "Oh, Mama, I'm so sorry!" the nurse exclaimed and we both laughed.

Korban put up a little fight but actually did really well. Poor Selah did well too, although she kept wailing "But this is a BOY dr! He isn't for ME!" It was funny, because her dr is a woman, so I guess she assumed that since this dr was male, he should only treat boys.

Counting the waiting time, and the blood draw, that appointment seriously lasted around four hours. I think that set a new record for us at this particular clinic. We had planned to take the kids to the children's museum since we thought our museum membership would get us in free. But at this point it was around 2:00 p.m. and I hadn't even had breakfast yet. Plus, we still had to pack up our stuff and clean the room at the Ronald McDonald house. So we took turns working on that while one of us stayed with the kids in the very well-stocked playroom of the house. After that was accomplished, we fixed a quick lunch in the kitchen that was right off of the playroom and got everybody fed.

Finally, we piled in our van and headed out to have a quick adventure before we drove home. We were very excited about going to the children's museum as it's new and we've never been there before. It's right next door to the Natural Science Museum in Jackson, and we knew from past times that our kids loved it.

We got to the Children's Museum around 4:00, which only left us an hour to play before they closed but we planned on making the most of it. Only when we got in there, we found out that our membership only gave us free admission to the Natural Science Museum and not the Children's Museum. We were disappointed, but at least we had the other as a back-up. The kids did really well with leaving and going to Plan B, especially considering the Children's Museum had a huge Bob the Builder exhibit set up, and they love Bob. I think I was more disappointed than they were. We would've just paid the admission and gone on to the Children's Museum but considering there was only an hour left, we didn't think it was worth it. I'm sure we will be back that way sometime soon and will have more time to explore.

So we left and went right next door to the Natural Science Museum and the kids really enjoyed that. It wasn't crowded and we were pretty free to just look at everything at our leisure and let the kids be kids. It was a nice break after a very hectic day, especially considering we were about to get back in our van and drive for over four hours.

I know this has been so lengthy, and full of a lot of medical jargon, but people ask us about our different doctors and stuff all the time, so it helps a lot to have it down in black and white and hopefully this has made a little bit of sense. Please understand that I don't claim to be any sort of expert about genetics or any of this medical stuff. I only know what I know because of what all we've gone through as a family, and I only know how it relates to us, not the rest of the world. We don't particularly enjoy being in and out of doctors' offices so much, but we feel that they are the ones trained to deal with all of this and we want to know everything we can to help us. Like I said before, it's like everybody has a little piece of the puzzle, and the more we dig, the more we find. We're just trying to do everything we can to help our kids. I feel that knowledge is power and that ignorance is NOT bliss. We know that these appointments aren't always fun for the kids, although we make a point of seeing pediatric specialists that have child-friendly offices and are very good at dealing with kids. Honestly, my kids don't mind going to the doctor (especially if they have cool toys!) as long as there is "poke" involved. And we always try to do something fun for them afterwards as a treat, and so that they will have a positive memory associated with the trip and not just being in and out of doctor offices.

We received the results of the latest micro array (the one done at Lebonheur) last week. It showed the same deletion on chromosome 15 that we already knew about, as well as a duplication on chromosome 9. Again, this doesn't mean anything specific. The dr said there have tested healthy people who had the same duplication, so it's not considered anything but a normal variant. If they tested everybody in the world, there's no telling what all they would find.

We are still awaiting the test results on Selah's micro array as well as the specific gene test that they did on Korban. I will post more about that after we get the results. Please say a prayer regarding those, and also for us as Brad is travelling with work the first part of this week. Change is not fun for any of us, and Korban has already been asking if he can go to work with his daddy.

So here's a couple of pictures from the trip to Jackson:

All the walls in the children's clinic are painted, and it was so nice to see how much Korban's language has improved since we were there last. It actually took us forever to get down the hall, because he had to stop and tell me what every single picture was. He knew them all! I think these kites were his favorite. :)