Meet the Geneticist

We have the incredible fortune to live in Boston, a city with some of the very best hospitals in the world. Among these is Boston Children's Hospital, a facility that continuously earns top marks in pediatric medicine, and performs cutting-edge treatment for nearly every possible problem. Really, it's amazing. I've always loved Boston, it's my home, but now experiencing it from the point of view of a parents who needs her child to be looked after with the utmost medical care... dude, I just can't even express how fortunate and grateful I am.

Anyway, when Sproglet was about 4 weeks old, we were referred to a Geneticist and and Orthopedist at Children's Hospital.

The Orthopedist noted that Sproglet's hips were not connecting to the joints properly, a condition known as hip dysplasia. It's not an uncommon condition, but usually there's a *reason* for hip dysplasia- a breach birth, for example. Sproglet was not breach, so that was a big Shrug- but he put her in a Pavlik Harness, which would force her hip bones back into the joints over time and correct the dysplasia.

Sproglet also had double-jointed fingers on both hands, which turned out to actually be underdeveloped finger bones. The doctor murmured something about possible surgery on her hands at some future date, but noted that, at her very young age, they wouldn't do anything until she grew a bit bigger.

OH I almost forgot! Cripes, we had so many appointments with specialists it's hard to remember all of them. Sproglet also was referred to neurosurgery due to a sacral dimple at the base of her spine. I was convinced she had Spina Bifida, but was reassured by the young surgeon that was NOT the case. He was, however, concerned that she might have a Tethered Spinal Cord which would likely require surgery. He asked us to get an MRI when she turned 6 months old, at which point we'd have a better idea what was the story (morning glory).

Onto Genetics!

The geneticist was pretty certain, after examining Sproglet, that there was some sort of chromosomal abnormality that she was dealing with. Looking at the evidence of her hips, loose shoulder joints, malformed fingers, wonky spinal cord, plus some facial features- like, her eyes were juuuuussst a wee bit far apart...not so much that you'd notice anything amiss, but I guess according to science and medicine, her eyes were set wide apart. OK. The Geneticist thought we might be dealing with Larsen's Syndrome, a condition I knew nothing about. It's characterized by musculo-skeletal issues, mainly double jointedness, and can have some difficult side symptoms like deafness. So we sent out those blood tests and waited for the results.

Six weeks later we were back in her office only to learn that she was negative for Larsens. Good news, I guess, but then what does she have? Geneticist send out a test called a microarray that would look at Sproglet's individual chromosomes and would tell us if anything was amiss in that regard. 

Six MORE weeks later, we returned. Sproglet was now 5 months old and had experienced some minor delays in reaching certain milestones. She would hold her (teeny tiny adorable) hands in fists, very rarely opening them up. She wouldn't reach out or toys, wouldn't attempt to hold a bottle or roll over. She seemed ok otherwise, was (and IS) super bright and social, so I wasn't too worried about the test results.

Trisomy 9p Syndrome. To be continued....