Daniel is making progress

There is so little written about lissencephaly in medical journals and on the Web that I find myself reading the same passages over and over again. Recently, I re-read the description of the disease on the National Institute of Neurological Disorders & Stroke website. (I won't link to the entry because it's too depressing in general.)

One sentence seemed to stand out from all the negative forecasting: "[Some children] may have near-normal development and intelligence." It's easy to miss this sentence the first time you read the page. Most of the talk is about severe and hopeless cases.

We've been seeing lots of progress with Daniel lately. While he still doesn't possess the physical mobility expected of a 14-month old (no crawling, no standing), he has been doing things that he wasn't doing just a few weeks ago.

Daniel has always been uninterested in holding and grabbing things. But we insist that he holds his own bottle when feeding. (Really, we do! We even say, "Daniel, you have to hold your bottle.") He does it because he likes his milk in the morning, but he would be much happier if one of us were to hold it for him.

On most mornings, we'll set him up in the high chair, prop him up to sit up straight. (He's still naturally slouchy.) Then we position his elbows on the table-tray and position the bottle so gravity and sucking do the work.

All-in-all, Danny does pretty well, but he usually drops the bottle on the table a few times during a feeding.

This morning, however, Daniel dropped the bottle many times. He really seemed to be doing it on purpose, trying to get Lara to hold the bottle for him. After a few too many drops, Lara said, "Alright, Daniel," and stood his bottle upright on the table to indicate that she was through playing his game.

Daniel studied the bottle and then PUSHED it with his hand, sliding it towards Lara -- not to knock it over, but to get Lara to pick it up again so he could drink more! I was elated!

I've also been trying to teach Daniel to high-five, and he's beginning to actually do it when Lara and I prompt him.

Both the occupational and physical therapists are extremely pleased with Daniel's progress. Still there is lots of work to be done.

But perhaps the thing that keeps us so optimistic is Daniel's bright personality. Daniel cries when his sister has to go to school. He laughs at funny songs. He babbles endlessly. He is a delight.

We know that this disease can play out -- even in a mild form -- in a number of ways. His progress may hit a plateau. He may develop some symptoms later. But for now, for me, near-normal is where we're aiming.

What Can I Say?

Yesterday Alison was invited to a friend's house to decorate Halloween cookies. The friend is from school and it was Alison and another little girl invited over to the friends house.

The three girls got along well and made very creative designs on their pumpkin, cat, ghost and bat sugar cookies. I was there as well and got a chance to talk a little with the girls' moms. We found out a little about each other and one of the moms asked if Alison was an only child (or just assumed). I politely corrected her and told her that we had a son at home as well. She was sorry she didn't realize and that was about the end of the conversation as the girls needed our attention.

The rest of the day and last night as well, I have been thinking about what I can say. What if that conversation had gone on? What if she had asked more about Daniel like how old he is and if he is walking yet? How should I respond? Pretending like everything is fine and normal seems wrong, but telling the whole sordid story isn't feeling right either--I don't want anyone to feel sorry for us or for Daniel. What can I say? What is a good overall statement to show that yes Daniel is developmentally delayed but that he is a very sweet boy is is continuing to make progress everyday? How can I help people understand and how can I help them want to listen to what I so desperately want to say?

Genes, Genes the Musical Fruit

We had our Geneticist appointment on Monday and we were able to travel back to the big city (Charlottesville) yet again. We met with the whole medical team of geneticist, all the way down to the medical student. Daniel was a good sport even though he was exhausted from waking up so early to drive there. Yes, I admit it was my fault for making the appointment for 9 am.

We basically found out nothing again and they even had nothing for us to do. What they need...you guessed right, they need to have the records from UNC to see what genetic studies have been done there so as not to repeat those. Then, after they get those results, they would like to take more blood (why they couldn't do it on Monday is beyond me) to run more tests including one that identifies over 100 potential causes for Daniels condition. Including but not limited to Prader-Willi, Downs and on and on. Lovely. So, looks like we get to go back to the big city soon and get the blood drawn and then wait wait wait for those results.

Sometimes the more you dig, the more you find you need to dig.

On a lighter note, has anyone read about this: http://musicophilia.com/? It is that same doctor who brought us Awakenings, you know with Robin Williams. I really want to get my hands on this book and maybe see if I can e-mail this guy. Really interesting stuff and without telling Daniel anything about it, he seems to have figured it out for himself:

New Album 10/24/07 3:34 PM

An Only Child?

Alison's preschool had parent teacher conferences on Friday. Much of the information we received from her teacher was positive. We learned that she is doing well at school with some minor problems that seem to be common for her age.

One thing that did stick out in my mind and that I cannot seem to let go of is that the teacher said that Alison exhibits some qualities you would see in an only child. Alison has difficulty sharing with others and when a toy that she is playing with is taken from her by another child at school she gets upset.

It is true that at home, Daniel gives her no competition. He has only recently begun to grab toys given to him but in no way does he go out of his way to get a toy much less take one from his sister. Alison has free rein. I can understand why her teacher said what she said and in no way do I believe she is mistaken. Alison does not have a "normal" brother who gets in her face and stuff and messes with her environment. She has no idea what that would be like.

I wish to God she did.

Eat, Drink and Be Warned

When we first learned of Daniel's diagnosis, of course things that we had observed in Daniels little life started to make sense to us.

One such thing was Daniels tendency to have issues with choking or gagging on food or water. Before learning of his diagnosis, we really didn't think it was anything serious but with children with Lissencephaly, there can be problems with aspiration pneumonia and that can end up being deadly. We decided to have a speech evaluation to make sure he was not silently aspirating.

The Speech Therapist came out on Tuesday and looked at how Daniel eats and swallows. The good news is that Daniel closes his lips and clears the spoon of food. He also has a good defense mechanism that does not allow him to aspirate. He chokes or gags to protect his airway. However, he does not initiate a chew. This is something that I kinda figured. Given a spoon of baby food, Daniel just swallows and in no way does it get chewed up further. So, that is something we need to work on. It is true that he has never been one for chew toys or such things. But, we shall work to getting him to chew and as for the water, we will need to thicken it to get him to take it better.

You know, in the hospital I would see far too many children just like this. They needed thickened juice and needed help with feeding. Which still leaves me to ask, did I bring this upon myself?

Maybe its nothing -- follow-up

I sent a message regarding my concerns about Daniel's head-shaking to the pediatrician at the Kluge children's rehabilitation center. Below is his encouraging reply:

I do not believe the behavior is related to the lissencephaly, at least not directly. It may be a random behavior that he has initiated which is somehow self-reinforcing. I would suggest observing for a while. It may disappear spontaneously. If it persists or worsens or other unusual behaviors emerge, I would contact his PCP first. If there are concerns about seizure activity (which I don't think this is) or other causes, perhaps further evaluation would be warranted. This behavior does not sound concerning to me at the moment.

Maybe it's nothing

I came home from work one day this week and was happy to see Daniel hanging out on the floor, laying on his stomach and pushing himself up with his arms fully stretched. He smiled when he saw me. I talked to him a bit. And then he started shaking his head from left to right, as if he was saying "no."

My first thought was, "How cute!" This was not something I had seen Daniel do before. I asked Lara about it, and she said noticed it recently. In the few days since I first noticed it, we have seen Daniel do this about once or twice a day.

Now I can't help but wonder if Danny is controlling his head shaking. Is this a symptom? Is it just a kid shaking his head just for the fun of it? He doesn't seem at all upset or annoyed when he does it. It is impossible for us to determine just what is happening here.

Frustrating.