The Pity Party is Over

When Precious was born, she was extremely floppy and suffered from extreme hyperbilirubinemia (jaundice). The geneticists came by to check her out in the NICU and asked us all kinds of questions. Some of the least favourite questions they asked were whether or not I drank while I was pregnant (no), or if my husband and I were related (not to my knowledge!!).

Precious had lots of measurements taken and they looked at her ears (low?), eyes (slanted?), thumbs (extra joint?), forehead (narrow?).

She was tested for Down’s syndrome, Muscular Dystrophy, Prader-Willi and spinal muscular atrophy.

We have been followed by genetics over the years and around 2 years ago, Precious was tested for Soto’s syndrome. She really has the look of a child with Soto’s, but the bone age test and the blood test came back negative.

We hadn’t seen seen a geneticist for 18 months. Our regular geneticist apparently got a ‘humungous’ research grant and transferred us to a new geneticist. The new geneticist seems very competent, energetic and knowledgeable.

After all the usual questions, even the one about whether or not my husband are related (still no!), Dr. Richer checked over Precious and did measurements and took photos of her face from the front and the side. She did notice her mouth breathing, distinctive facial features, long eyelashes, nystagmus (shaking eyes), flat feet, long philtrum, and her developmental delay. She also noted that she is around the 97th percentile for height, and head size and about the 75th percentile for weight.

The doctor recommended a microarray DNA test to look for chromosomal additions and deletions, and a follow-up with orthopedics in case Precious is developing scoliosis because of her low muscle tone. She also noticed that it had been 2 years since she’d seen the eye doctor.

The eye doctors at the children’s hospital have an 18-month waiting period, so she referred us to a private pediatric eye doctor with a 6-month waiting period.

It feels like after quite a while with little to no appointments, we are going to be busy over the next little while. We’re booked at the orthopedic surgeon on January 6th, and we’re seeing both developmental pediatrician and the psychologist in Feb/March.

I had a little pity party for myself after I heard everything that Precious was going to have to go through and also because I was worried about her getting scoliosis and needing surgery. After two days of feeling tearful, I snapped out of it and am much more serene about the whole thing.

Has anyone else had the micro-array test?

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