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.

It Takes a Village

A post or two ago I related how Daniel was a big boy. He is very tall and pretty chubby but they equal each other out. However, this does not make it any less difficult to carry him around for any length of time. Especially him.

Let me explain: Daniel being hypotonic cannot exactly help shift his weight around. He will be held, but without holding himself up and therefore carrying him is like carrying just his entire weight. It is a bit difficult.

Alison had a field trip to the pumpkin patch today and I went with her. I briefly thought about bringing Daniel with us for the fact that he would love to get out and see the world any chance he gets, but I gave it a second thought. Lately Daniel has hated his stroller and wanted to be carried when out. To take him to the farm would have meant carrying him almost the entire time and running after a very energetic Alison too. Not to mention the fact that today was the most windiest and coolest day we've had in a very long time and Daniel hates the wind.

So, I consider myself lucky. Lucky to have my parents around to help as much as they do, lucky to be able to leave Daniel with his grandmother that he loves and to borrow my dads car and take Alison to get a very small but perfect pumpkin.

Genes

I don't like Genes.

Well, particularly the ones that may have caused Daniel's condition.

The doctor at the Kluge Center was better than anyone about explaining them. If his condition is due to a recessive recessive gene that means that both Jason and I carry that gene and together there is that chance of having a child with Lissencephaly. The doctor explained that we all have millions (or billions) of recessive genes in our DNA but the chances of finding a mate with the same recessive gene is quite rare. It does happen. As in the case of Cystic Fibrosis.

This information interests me though when I think about the implications of it all, it frightens me. We are set up to see a geneticist and I really have some serious questions for this Doctor. What does it mean if Jason and I are both carriers? What does it mean for us, for Alison, for her children?

I have always been fascinated by medicine--should have been a doctor or nurse. Genetics is a fascinating science as well but in this case do I really want to know? I understand there may be other causes of Danny's disease and that it is not necessary to find out the genetics but who knows what the future may bring and if you heard who won the Nobel Prize for Medicine then you know it is somewhat important. I just have a hard time not thinking of the big picture (its like a curse for me). Knowing that the genes are in me or in my daughter that caused this to happen to Daniel is scary and I sometimes actually think that ignorance is bliss.

A Tribute

Yesterday was a good day. One of the better ones I've had in a while. We had a visitor from England! My uncle Dave and we all (except Jason who had the busiest work day ever) piled in the car and drove to Shenandoah and ate lunch at Big Meadows Lodge. It is still pretty hot around here but it was cooler in the mountains and just right for a little jaunt. Dave enjoyed seeing Shenandoah and being the world traveler he is I was shocked to learn he had never been there before.

My uncle Dave was married to my aunt Marilyn. Marilyn was one of my dads sisters who died 5 months ago from complications from ALS. ALS is a progressive, debilitating disease that has no mercy. Some people if given that diagnosis might just crawl into a hole and die right then and there. Not Marilyn.

I was one of the lucky ones to know Marilyn. Luckier still to have her be my aunt. She was one of the strongest persons I have ever met. In the face of this disease her spirit and her strength never faltered. In caring for her Dave was one of the bravest human beings I have seen in a long time. Never did I talk to them and they expressed sorrow. I am sure they had their struggles but all any of us received was positive and a love of life so strong you could touch it.

I never told this to Dave and not even to my parents either but before I got the call that Marilyn passed away, I was singing a song to Daniel and I felt her with me singing as well. I doubt that she was really "there" but I think I willed her to be with me for a little while. She left behind a wonderful husband, two great (and very strong like their mother) daughters and one fabulous grand-daughter. I know she is watching over them all. And it gives me great comfort to think that maybe, just maybe, she is watching over me and my family too. I feel stronger when I think of this. I feel lucky to have her in my corner.

Dave, I do hope this does not offend you. I really loved seeing you and having you meet our children and spend time with them. I hope you enjoyed the day as much as I did.

Oh yes, and happy birthday to my dad. Now if you ask Alison how old papa is, she will answer as loud as she can in a restaurant, "66, 66, 66..."

Sorry dad ;-)

To view pictures of the day please click here:

In the Kitchen with Daniel

"Daniel is a big boy."

That is the comment we get a lot. And it is true no doubt. He is very tall and very big. If he didn't have the developmental delays that he has, he would be running off a lot of that baby fat, but since he is not like most other toddlers we have been wondering how to give this boy some exercise.

Last week we asked the physical therapist if there was anything we could or should be doing. Not to say that Daniel doesn't move but we thought maybe he might need more. The therapist said that he does burn energy just kicking and rolling over but she gave us other types of "exercises" for Daniel.

Well, Daniel listens and takes in a lot of information and that same afternoon he just rolled all over the place. From back to stomach and stomach to back. And today, who did I find in the kitchen? Yup that is right--Daniel. I think he surprised himself as he has never been on the floor in the kitchen before. And while he was in the kitchen what did he do? He moved in a circle on his back and even got a little too close to Maggie's food bowl.

What did Maggie do? Nothing but she definitely didn't like the look of it.

Things are OK

Today, Lara and I took Daniel to a doctor's appointment at the Kluge Center, a children's rehabilitation clinic at the University of Virginia hospital. This was a referral made for us by the UVa neurologist who recently diagnosed Danny. (Lara is becoming quite familiar with the hour-long drive from Harrisonburg to Charlottesville, where most of the medical specialists are located.)

The pediatrician we saw today, who also happens to be the head of the clinic, told us much the same sort of thing that we've come to learn already -- that while Daniel's MRI clearly shows an abnormality, only his actual accomplishments will determine his future.

He's still so young that it's hard for anyone to determine just how Daniel's life will play out. Knowing his condition will help the doctors, therapists and us to keep an eye out for any special needs that may arise.

We will continue working with the occupational and physical therapists. We will follow up at the Kluge Center in six months. We will meet with a speech pathologist to evaluate his swallowing abilities. We will meet with an audiologist and ENT to evaluate his hearing. We will meet with a geneticist to learn whatever else we can about his condition that provide useful information in the future.

I feel like I'm repeating here some of the sentiments that Lara and I and our family and friends have posted to the blog. But today's doctor visit, combined with the routine events of daily living, have really helped to calm things down around here. I almost feel embarrassed that we responded so alarmingly to his diagnosis.

Certainly I appreciate all of the kind calls, emails and comments that we have received from our wonderful friends and family. This response, too, has really helped us to reach a calm, rational place.

In recent blog posts, Lara has poignantly mentioned some of things that Alison has recently said about Daniel, and we have often wondered how aware she is of his limitations. Earlier this evening, I asked Alison, "What do you think of your brother?"

Alison replied, "He's really cool."