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“I’m going to be double digits!” Ten years old this past December. As we get older, we tend to forget how big these milestones are to kids. This was one milestone that we hit right on time! It sometimes gives us pause, knowing that some other kids with CdLS don’t get to see their double digits.

Connor was our first child (brother Carter is 7). He appeared healthy and typical enough at birth. A little on the small side (5lbs. 14 oz), but nothing that instantly sent up red flags. Over the next few months, we were consumed with feeding him. He tired of nursing easily and was fussy about nursing or bottle feeding in general. By four months old he was refusing to nurse and diagnosed as failure to thrive. We figured out that if we picked him up in the middle of the night carefully enough and didn’t wake him, that he wouldn’t fight us to drink. A good night was when we could get 5 oz. in him. The reflux diagnosis came around six months old and the feeding therapist shortly after (who knew there was such a job?!?).

The 9 month check up was the tipping point. He hadn’t grown lengthwise at all. That got us an appointment to see genetics. When Connor was 11 months old, we met Dr. Krantz. In hindsight, he probably suspected CdLS before he met Connor, but certainly knew the moment he saw him. We were stunned to receive a diagnosis so quickly. We were devastated over his loss of potential. Looking back, thank goodness for the diagnosis. It got the ball rolling…GI, Ophthalmology, Developmental Pediatrician, Allergy (Connor has numerous food allergies) speech, OT, PT, etc.

The next few years were filled with doctor appointments, medications, different therapies and worry. You can’t leave out the worry. It is a world impossible to navigate without guidance. We have always felt fortunate that CHOP was a Center of Excellence for CdLS and that there is a team of doctors there that are not only experts in their chosen fields, but also specialists in CdLS. There is a confidence in knowing that the doctors that see your child are the best doctors for your child. Period. Given the choice, we would chose for Connor to be typically developing. However, since we don’t have that choice, we’re glad that we have CHOP to take care of him.

Connor is a funny (what a laugh!), sometimes sarcastic kid, with a smirk that lets you know that he gets so much more than we think he does. He’s a stubborn guy (we think that has genetic roots, too…), and when it's not infuriating, it makes us proud that he can stand his ground when he wants to. He struggles socially with his peer group. They just move too fast. However, he can readily read the social cues when it involves his brother and can push his buttons with a high degree of accuracy (insert Connor’s smirk). We must give credit where it is due.

Connor has so many challenges. Learning the intricacies of speech is hard, writing is hard, reading and comprehending are hard. Social situations are confusing and at times overwhelming. Catching and throwing are hard. Focusing and not getting stuck on certain ideas are hard. Learning and remembering, in general, are hard. They don’t come easy, but they do come. Repetition and persistence (from everyone!) are key. This kid has never had an easy day. He doesn’t know what it is like not to struggle and work hard. We hope since he doesn’t know any different, he won’t ever think not to push through.

He loves animals. He loves his Pokemon cards and loves his iPad time. He loves to play baseball and is getting good at it. He loves to ride his bike and color and is a whiz at puzzles that even his parents give up on. He has so many positive things going for him. The trick is to let other people recognize his potential instead of his challenges.

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