Two Year Well Child Visit

On Thursday we visited Ben’s pediatrician for his regularly scheduled checkup. Everyone but Isaac (who was at school) went along. Jonny was worried at first that Ben was going to have a shot, but was very relieved when we reassured him that Ben was done with shots for a while.

Ben weighs 16 lbs 2 oz, and is 27 inches tall. He has gained exactly 4 lbs over the last year. He is right at the 50th percentile for weight for baby boys with CdLS, and about the 25th for height. Our pediatrician was very pleased with his growth.  I am glad that he doesn’t expect the same rate of growth for Ben that he does for “typical” children.

We talked about development. Ben will always have global developmental delays, but he definitely makes slow but steady progress. He will now grasp and play with objects, roll end over end, and can sit unsupported for several minutes at a time (depending on his mood!) He coos, but doesn’t make a lot of consonant sounds. He has recently started to cry and fuss if one of his toys moves beyond his reach.

We talked about his Early Intervention services: right now he gets Physical therapy once a week, Occupational therapy twice a week (which includes feeding therapy), and Speech therapy twice monthly. We still continue to struggle with oral feeding. Sometimes he does GREAT, and opens his mouth up for the spoon (like he did for me tonight). At other times he resists any attempt to put anything edible in his mouth (like he did for his birthday cupcake). We just continue to work with him daily.

Ben is still virtually 100% tube fed.  Right now he is on mostly Nutren Junior formula, and gets a total of about 700 cc over a 24 hour period.  He seems to tolerate his feeds well, and we are just about to increase the volume of his overnight feeds a bit.  (We are maxxed out on how much he will tolerate in his daytime boluses).

We had a couple of new concerns:

1. Ben needed a letter of medical necessity for a gait trainer of his very own (the one we have now is a loaner). Our pediatrician actually wrote one for us on the spot. Our PT will also write one, and hopefully we’ll get the ball rolling.
2. We’ve noticed that Ben can ‘pop’ his right hip joint just for fun, and it doesn’t seem to hurt him at all. I can’t tell if the joint itself is unstable. Also, when supported, he walks with his feet pointed out, and his PT and OT thinks the external rotation of his feet is coming from his hips. So we’ll be getting X-rays of his hips to investigate.  At some point he may need to see an orthopedist.
3. Ben has been horribly constipated for weeks! We’ve tried Karo syrup with very little success. It turns out, though, that we just started Ben on prune juice late last week, and it seems to work MUCH better than the Karo, so for now we’re holding off starting him on a prescription laxative.

We talked about appointments with other specialists.  There aren’t too many coming up in the near future.  We accidentally missed his appointment with audiology last week (oops!) and that got rescheduled for August.  He has an ophthomology appointment next week.  We haven’t needed to see Ben’s surgeons or the g-tube nurse in over a year.  We will probably make an appointment to touch base with Ben’s geneticist over the summer as well.

So things are going pretty well.  We are fortunate that Ben’s health continues to be very good overall.

Our next appointment for Ben at the pediatrician isn’t for 6 months.  Hopefully we won’t have a reason for him to be seen before then.

Happy 2nd Birthday, Ben!

Today was actually Ben’s birthday, but we had his birthday celebration last week when Grandma was still here visiting us.

Mark made chocolate cupcakes for our little party. I love cupcakes. They are easy to make and bake quickly, and best of all, easy to frost. And (if you stick to just one cake), the perfect serving size.

Ben, however, did not share our enjoyment of cupcakes:

After that, we opened presents, all of which Ben loved. Mark jokes that we probably own every baby toy currently being sold at Toys ‘R’ Us!

It’s hard to believe that Ben is 2 years old already. In a way, the time has flown by, but yet these have been the longest 2 years of our lives, I think. The second year was definitely easier and more enjoyable than the first, since we had fewer doctor visits, and Ben has stayed (mostly) healthy, and developed a neat little personality of his own.

Sometimes I do feel sad that things turned out so differently from what we have expected. If Ben were a typical 2 year old, he’d be walking and talking and chasing his brothers around the house.  However, most of the time I don’t dwell on the “what if’s”, and can enjoy Ben for who he is. That has gotten easier with time.

I can’t wait to see what the next year brings for Ben and for all of us.

Why do these boys look so proud?

It’s because they scored their first goals of the soccer season! Isaac actually scored his first goal ever!!! They were both so excited and proud of themselves.

Both older boys play in our local AYSO league. Jonny is on an under-6 team, while Isaac plays under-8. I think the AYSO is cool because ALL the kids on the team get to play every game regardless of ability. This year, Mark has been coaching Isaac’s under-8 team, and he has enjoyed that too.

I love going to soccer games and cheering for all the kids.

Ben loves being outside, as long as it’s not rainy or cold. And who knows? Maybe he’ll play soccer one day too.

Spring is here, and so is Grandma!

Finally, we seem to have seen the last of the cold weather until the fall.  We’ve had two GORGEOUS Saturdays in a row!  And that means…

…a trip to the local creamery for some homemade ice cream!  We went last week with just me and all 3 boys, and this week Grandma came along.

Ben loves being outside when it’s warm.  He wasn’t too keen on tasting the ice cream, however.  He likes the flavor but not the coldness.

I am so glad winter is over!

Goodbye Baby Carrier…

…hello big-boy carseat! After almost two long years, Ben has finally gotten too long for the baby carrier, although he still weighs well under 20 lbs.

Ahhh, much better!

To Test or Not To Test…

Finding out we were pregnant again was very stressful. We love Ben dearly, and he has brought our family so much joy, but all the same we worried about having another baby with CdLS. We understood that the recurrence rate for CdLS is fairly low, at 1-2% overall, but it was not zero. If anything, we were more likely to have a second child with CdLS than we were to have had Ben in the first place!

Most of the time, the mutation that causes CdLS is a sporadic event in the affected individual, and theoretically should not recur in a subsequent pregnancy. However, a few families do have more than one affected child. One possible explanation for how this happens is germline mosaicism in which one parent carries the mutation in the sperm or the egg but not in most of the other cells of the body. If germline mosaicism is present, then the recurrence rate for CdLS can be quite high; up to 50%.

It is a very personal decision whether or not to have special prenatal testing of a subsequent pregnancy to determine whether the new baby has CdLS. We opted to do this mainly for peace of mind, and to help us plan for the future if this new baby DID turn out to have CdLS, but we understand that many families may decide that the odds of recurrence are so low that special testing is unnecessary.

We had an ultrasound early in the second trimester, mainly to confirm my due date, and also to see if our new baby had any obvious limb differences. I had a routine quadruple screen blood test at about 16 weeks (which, incidentally, I never had with any of my previous pregnancies). I had a more detailed Level 2 ultrasound later in my second trimester. All of these tests turned out to be normal. If I had done my research earlier, I would have also requested a PAPP-A test as well. Low PAPP-A levels in the second trimester can be associated with CdLS.

The next big decision was whether or not to pursue more invasive genetic testing on the new baby. Genetic testing for CdLS is available through the University of Chicago Genetic Services Laboratory. We had already obtained a blood sample from Ben last summer, and his sample was sent to the University of Chicago for testing. A mutation was found in Ben’s blood sample in the NIPBL gene on chromosome 5, so it was possible to test the new baby for the same genetic mutation by obtaining fetal cells by amniocentesis. We opted to have this done (not an easy decision since amniocentesis has a 1 in 300 risk of miscarriage), and the amniotic fluid was sent to the University of Chicago along with blood samples from myself and my husband to be tested. None of the three samples had Ben’s mutation, so we are fairly certain that this new baby does not have CdLS.

In pregnancy there are no guarantees, and we still don’t know what special challenges our new baby may have. I am not sure how many parents of kids who have CdLS choose to have all of this prenatal testing for subsequent pregnancies. For us, having the tests helped to decrease our stress level considerably, and I am glad they were available, and that we had them done.

I Love Having Boys

Today we finally had a break from the cold, damp weather.  It was almost 70 degrees!  Mark was out practicing his bass, and so I was home all alone with my three boys this evening.  The older two were driving me CRAZY indoors with their seemingly boundless energy, so I banished them to our (tiny) yard.

I think Isaac forgot what warm weather was like.  He came outside hesitantly when I told him he didn’t need a jacket.  He broke into a huge smile and said, “Wow, it’s room temperature out here!”

I took these photos and then brought Ben out with me to watch them play.  I hope one day he’ll be able to run and play with his brothers.

They had so much fun!  They raced, they chased each other, they wrestled, they jumped, they brought out plastic weapons and had duels.   Then it was bathtime and bedtime, and they promptly fell asleep - they were so tired out.

It’s so wonderful to have little boys, and I am so glad that our fourth child is also a little boy.  Of one thing I am certain: by the the time Little Boy #4 is able to run and play, we need to have a bigger yard!

We can’t believe it either…

Our new little one is due around August 3rd. The big boys are very excited, and Mom and Dad are speechless!  I guess we’ll have to change the name of our blog…

Happy Easter!

We had a quiet Easter this year.  We went to church, came home, and I took my customary Sunday afternoon nap.  The older boys played video games.

My sister Aliyah came over for Easter dinner.  It was nothing special - scalloped potatoes and ham (and grilled chicken for Aliyah since she doesn’t eat pork).

The ham was one that we got free for accumulating a certain number of “points” at our local grocery store.  It was VERY salty.  Or maybe it wasn’t very good because it’s only the second time I’ve made ham in my life.  In any case, I think it belongs on Mark’s blog even though I cooked it. 

Even though I ruined dinner, we had a good day together has a family, and for that I am grateful.

I wish I were a stay-at-home Mom…

…so I’d get to see Ben do all kinds of neat new things in therapy.

Last Friday our physical therapist brought a gait trainer for Ben to try out, and Mark took lots of photos. The trainer was a little too big for Ben; he is just a little guy who weighs about 16 lbs. I was told that he enjoyed standing in it, but doesn’t quite understand the whole point of walking in it yet.

I loved seeing the photos, but I felt sad that I wasn’t there to see all this happen, or to cheer for Ben.

It’s a good thing he has such a wonderful Daddy.

I hope our PT brings the gait trainer along again this Friday when I have the day off!