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!

\"Why can\'t you guys take one nice picture?\"

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…

Ben in 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…

Ben sitting and holding Spiderman

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.

The big boys outside

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.

The chase
Isaac cartwheelJonny lying on grassWrestling

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 Рthey 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!


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