Playing God

I was listening to the radio this morning and found myself enthralled in this story: .

Of course I am amazed at all things medical so it should come as no surprise, but now I look at it from a parent standpoint. Not just that though, a parent whose child has a genetic mutation. I think the thing that strikes me the most about this report (and feel free to listen to it and form your own opinion), is that this procedure is actually changing the DNA for years and years and generations and generations. I am not under any illusion that any of this science will help Daniel or even make any difference whatsoever in his life, but I wonder about other mothers. Mothers-to-be or grandparents. This is something that could change the face of medicine completely and forever.

In truth, I actually have a lot of resentment towards whatever/whoever/however my son had this genetic mutation. I cannot say for sure that it was a "being" of any sort, but what made Daniel the way he is, I still hate with every part of me. No, I don't hate my son and I love my son very very dearly, but I do not like the fact that he got a raw deal. I hope that future medicine will provide the answers for parents to be able to take away any pain or suffering or a chance for a child to have a normal life. I know there are those that say, "what doesn't kill you makes you stronger," but honestly no child should have to have a life-changing/life-threatening disease in order to prove their strength and no parent should have to go through it either.

Mystery solved...for now

These posts get fewer and farther between since we have a ton of stuff going on, as I am sure all of you do. It is difficult to even catch your breath at times. One kiddo is getting ready to leave middle school and the other is getting ready to enter middle school so you can imagine the crazy schedules. Add to that both mom and dad working most days of the week with at least a half hour commute then you have very little time to take a break. However, since I am in a lull for a few minutes, I wanted to update you all very briefly.

So, the world changed with the election and this blog is not about politics so we will skip that part. Daniel has been doing okay. I say okay because that is a pretty accurate description. He continues to take medication for both sleep and for behavior. His behavior is hit or miss (no pun intended). The medication (Ritalin) doesn't really work on the behavior so much as Daniel's ability to get "stuck" on a subject. Daniel's hitting and kicking comes and goes depending on a few things: is he off his regular schedule? (Daniel needs to have a regular schedule); is he bored?; is he tired?; is it a new situation?, is it a transition? So you can see why we are walking on eggshells sometimes. We have gotten some training on how to be more proactive-to predict when these behaviors are going to happen and to not just react to them. They have somewhat gotten better but that is all relative. The Ritalin may be helping, but sometimes we cannot be sure.

One thing the medication is doing is causing Daniel to lose weight/have a decreased appetite. Now, if you know my son, then you know he LOVES to eat and will eat anything. So (crazy as it sounds) we met with a nutritionist who gave us some pointers on how to increase his calories. We started right away--high calorie chocolate milk-check, adding more cheese to his eggs-check. We were going along okay until one day 3 weeks ago Daniel vomited. He woke up and was shivering and then vomited. I know I have talked about this before, but Daniel cannot tell us what is wrong. I don't know if he cannot feel pain or if he just doesn't know how to say he is in pain. When he vomits, he gets really scared (or pain) and he will lash out. Anyway, three weeks ago for the whole day he ate nothing. Then was perfectly fine. Then 2 weeks ago the same thing happened and he didn't eat for a whole day and then was fine. Then 1 week ago and then today. No other symptoms or fever. He talks and acts normal, but no eating--in a kid who cannot afford to do that! My husband took him to the doctor because (of course) I was at work. Texting Jason with all kinds of my own diagnoses. Then it hit me, Daniel could be having acid reflux.

When he was younger, he would sometimes wake in the middle of the night screaming and was in pain (at least we could tell). The only thing that helped was antacid. When he was a baby he was diagnosed with it for his hypotonia and he was given medication (the medication at that time did more harm than good). I am not sure why we stopped checking into it. He has never been able to burp on his own and I don't really know if there were other symptoms, but we just didn't think of it after a while. It makes sense though and this is what the doctor thought as well. The doctor actually thinks it could also be a virus mixed with the reflux but reflux nonetheless. I feel like such a bad mom. How could I have dropped the ball and not even followed up on his history of reflux? How did I let it go for almost a month without thinking it was reflux?

He is now taking an over-the-counter probiotic and has a prescription for anti-nausea and we need to change his diet. This means no chocolate milk or tomato sauce products or any spicy foods. So now we need to make sure he gets enough calories without having some foods that he really likes. If it happens again then we will need to try medication. Life goes on.

Isolated

I know it has been a while since we've posted anything. It does not mean that nothing has been going on. On the contrary, it means we've been extremely busy. Even now, in the summer time, we have work and the kids have camps. In just a little over a week though, Daniel will be having a milestone in his life. He will be going to his first ever sleep away camp experience! This is pretty huge since he has never once slept away from us. This decision may seem like no big deal for any other kid and it is true that Alison has been going to sleep away camp for three years but it is much much different for Daniel. First, we had to find him a place to go as there are not many camps that take children with special needs. We also have to consider the fact that Daniel will not be able to communicate to us if there is anything wrong or if anything happened. It is not as though he tells us anything about his day anyway, but now it is a whole week of not seeing him or knowing what is going on. Not only that but what will he think when his family leaves him? Will he know that we will be back? Daniel is a boy all about routines and will get very upset if his routine is disturbed, will this put him over the edge? There is really no way to tell, no way to know for sure unless we bite the bullet and send him.

For Jason and I, it will be a real treat (well if we/I can get over the sadness of sending both kids away in the same week). It will be a week that we will not have kids, and that is just crazy! He and I have not had that kind of time in 13+ years! It is difficult, and may be more difficult because we have Daniel, to get away. Even leaving the kids with a stranger is pretty much unheard of. We need to find someone who can deal with Daniel and that is not at all common. Usually we rely on my parents, but they watch him during the day before and after camp/school so to ask them to do so on a weekend or at night would be asking too much and let's face it, Daniel is becoming a handful.

Essentially Daniel is a sweet boy who is developmentally delayed in all areas. This means that while he will be turning 10 in August and has a body of a 10 year old boy and strength of a 10 year old boy, he has the mental age of a toddler. He also does not have the communication skills that a typical 10 year old may have and he has some sensory issues which makes him do things like hit or kick or pull hair and he does not understand that this is wrong. He is a smart kid and he is learning a lot every day, but this is the one area that he just does not comprehend. Really for him, he doesn't feel pain or his level of tolerance is higher. It takes a lot more sensation and he seeks that out in others. He does not understand the idea that he is hurting you or that you are upset BECAUSE of what he did. We are working on this. There are many many behavioral ideas to work on with this and we are enrolled now in a new program that may be helpful. We also have Daniel on new medication to maybe help with the behaviors.

All this does not help the here and now. The day to day struggles that we have, and my parents have. We feel isolated a lot of the time simply because we don't really know how Daniel will act around strangers or even his own family. We all went on a trip to Philadelphia last month and there were some stressful moments. The night before the trip, Daniel pulled off Alison's glasses (which he has done before with no problem) and broke them. Then on the plane to and from we had to hold him back because he was really interested in the people in front of him and trying to touch them. Unfortunately due to sensory issues he won't wear earphones and so watching a movie (which he loves) does not keep him busy. Anyway, it was a nice trip overall but you can see where we were stressed. It didn't help too that we were away from his regular routine.

So we are alone, or at least we feel alone. Sometimes it even feels like people avoid us because of Daniel's behavior. It is probably in our imagination, but that is the way we feel. It seems absurd since Daniel is such a sweetheart. He is so fun and funny and loves everyone he meets. He is such a good boy and Alison is an amazing big sister and overall great kid too so you figure why should we feel so alone? Why are we afraid of venturing out of our comfort zone? I guess this is what the reality of having a kid with special needs is all about.

Supercalifragilisticexpialidocious

We found out! Well, we have some very basic knowledge at last of what may very well be the cause of Daniel's everything. His developmental delay, his cerebral vermis hypoplasia, his hypotonia and more issues. Get this: it is one gene and it is a deletion from the gene. The gene is BCL11A.

The research assistant explained it like this: If the gene were the word Supercalifragilisticexpialidocious, then Daniel would be missing the "cali" part. Think about that! That "cali" part is what has done this?! Can your mind even go there because mine cannot! It is insane! So far though, that is what we have.

What does it mean for Daniel? A whole lot of nothing at this point. It means we keep on doing the day to day stuff. We keep on raising him like there is no limit. We keep bringing him with us to unique places and we keep loving him like we love him--with all of our heart. So Supercalifragilisticexpialidocious to you all!

There's the rub

Life gets in the way of us updating this blog sooner. As I am sure you can imagine, things have been busy. First, Daniel is doing great! He loves school, is happy as usual and is learning new things everyday! Daniel has been making great strides in walking on his own here at home and at school. It is so great to see. He is very inquisitive and wants to know what everything is and what everything does. He still loves to sing and has a great voice and knows how to carry a tune...any tune.

Time flies and it is amazing it is Spring already. We keep busy with Daniel's appointments and our daughter's sports and help with homework/projects. It should be no surprise to anyone that we have been struggling since moving to this area. With Jason the only one working full-time, it has been difficult to get ahead in any way. We have been fortunate to have family help us, though that help will soon need to end. In a few weeks, I will temporarily be covering for a dietitian and working full-time which will help in terms of money, but Jason has finally realized what that means for us. You see, if Daniel were neurotypical, we could have him stay after-school in an after-school program. We could have our daughter come home and stay home by herself for a little while. She could look after her brother for a bit. All this would allow us to work until 4:30 or 5pm and come home and not worry about the kids. Well, worry in different ways. However, Daniel is special needs. Our daughter is capable of many things but he needs many more. So, we are lucky that we have my parents here and we don't need to pay them, but they are not getting any younger and Daniel keeps growing. The reality is that we will eventually need to pay someone and of course that someone will need to be someone who is not a teenager, but one who has had more training. That is costly. So where will our money go from working full-time? Right. We thank our lucky stars for my parents. Though what happens when the temporary position ends and we don't have help financially. How do we get ahead? How do we get ahead let alone even try to be independent. You see the problem? You see what is wrong here? We need a break!

It's just not fair

Yesterday was a long day. We picked up Daniel early from school and took him to Seattle Children's Hospital to see THE doctor again. We were checking in with the doctor, not because of anything new, but because we just needed to follow-up and discuss a few things with him.

Daniel is able to make friends anywhere he goes, so naturally he was saying hello to everyone who walked past him. Some stopped to say hello to him as well. He was very interested in seeing the doctor and kept saying his name over and over. We had the appointment at 2pm, but arrived early and sat in the waiting room for about a half hour. The doctor was prompt and was very interested in Daniel's teeth. Daniel has recently lost a lot of his top teeth and the doctor was struck at just how small his teeth are. The doctor (since he is a geneticist as well) said that there are thousands of genetic syndromes, but only a handful that cause dental problems. He also went on to look at Daniel's face in general which has always had some unique parts to it. Under his eyes it is sunken in a bit, his nose has a tip that goes under and it is flat from the nose to the mouth. His earlobes are almost non-existent. All of these things can be or may be involved in an underlying genetic syndrome though the question is what one. The doctor spent some time researching while in the exam room. He then explained that Daniel had dyspraxia which explains why Daniel can lay down and move his legs with no problem but gets up and cannot walk well. We asked about Daniel's head shake that he has always had and he attributes that to posturing. We discussed Daniel's future as we had last time and he was giving us a bleak outlook on how long we could potentially care for Daniel before we start to get too old.

After he left, he came back rather quickly with a colleague who had a few suggestions. He wanted to see if Daniel's penis was small (which it is). This guy had a New Zealand accent so just try to picture a guy saying that in that kind of accent. Our doctor and the other doctor were talking about what other genetic tests to run and what types of syndromes that may be indicated. Finally both doctors were finished. Then Daniel needed to get his picture taken (his face and his genitals). Then it was time for blood work. We went to the lab and waited another 20 minutes or so. Daniel actually did really well for getting his blood taken. Then we left. We left at 4:30pm.

When we got home, Jason was walking Daniel up the stairs and Daniel took an added step and leaned back causing both Jason and Daniel to fall down the stairs. Daniel got a bump on his head and Jason and I both added many gray hairs to our heads. It was definitely not a good end to a long afternoon.

Last night, feeling sorry for ourselves, Jason was trying to figure out where we need to move that has the best care for adults with developmental delays. He was also upset at our financial situation which really hasn't gotten much better and we were both just thinking, it is just not fair.

Learning More Everyday

It is no secret that Daniel is developmentally delayed in all areas. He is physically delayed and speech and of course mental delays as well. It has been a while since he has been tested, but the last time it was, there was a marked point in which he is more than "2 standard deviations below." That is (of course) IEP speak for your son is mentally challenged. Of course, it was worded differently in the IEP (a bit harsh for my taste). All of this is on the standard scoring--measuring Daniel up to his peers, where he will always lag behind. It does not take into account Daniel's own bell curve and his own unique learning that happens subtly and in such small amount that sometimes you don't know it until it hits you in the face!

Daniel started school on September 2nd and he gets a ride to and from school. The ride is about 10 minutes long and his driver is a nice man from Ethiopia. After just a few days he and his driver had already hit it off with his driver calling him, "Danny-boy," "Sweetie-boy." Everyone loves Daniel. I think his driver figured out early on too that Daniel responds really well to music and singing. So, before the month of September was over, we heard Daniel singing something but we could not figure out. It wasn't in English. We listened for a bit and finally realized it was the Ethiopian National Anthem. Daniel was singing it! Daniel has also learned to count to 5 in Amharic as well.

Now, if someone wants to categorize Daniel in some way as to say that he is not smart, then I will point them to this video and ask if they can count to 5 in Amharic. And to Daniel we just ask, "Why are you so smart!"