Geneticist Checkup

Graeme had his geneticist checkup this past Friday.  We were looking forward to going again, since we hadn't seen her since Graeme's diagnosis at 7 weeks.  We were supposed to go back around 6 months, but we couldn't get in until now, when he's about 7 months.

Luckily, everything is going great! The doctor was happy with his motor development so far and he's hit the milestones he is supposed to reach.  All of his moving, arm waving, and kicking indicates a lack of any kind of stenosis, so that's definitely a good sign.  So far his back/spine is looking good too; there doesn't appear to be any kyphosis that has developed yet.  Our geneticist is going to send all of Graeme's tests to Dr. Hoover-Fong at Johns Hopkins for her to review.  Dr. Hoover-Fong is the doctor we were referred to through LPA who is a specialist for dwarfism.  Our doctor actually did her residency under Dr. Hoover-Fong, so it's kind of neat that they are connected in some way.  Even funnier - our pediatrician did his residency with our geneticist.

Sleeping on the way home from his visit

Anyway, Graeme got a clean bill of health.  The doctor wasn't too concerned that we haven't done his sleep study yet, which we were happy to hear.  She was also impressed with his head control and his strength.  I think he's going to start sitting before too long.

His measurements were around the 50th and 75th percentiles.  His length was about 24", weight was 15 lbs 13 oz, and head circumference was 49.5

cm.  Our next geneticist visit will be when Graeme is about a year old, then we will see her every year after that.  We're so happy it went well!