Orthopedics visit was just fine

Sofia had her checkup with the Orthopedist this morning at Children's Hosspital in Waltham. When we'd gone for Cardio in May, I just walked across the hallway and scheduled a "blind" appointment with any doctor available.

The doc we got was a very nice lady, and knew immediately what to look for with Sofia. We were there for two reasons:

1. Now that Sofia is walking, her feet tend to bend in at the ankles and her legs are bowed. Doc said this was perfectly normal for new walkers, and that laced-up good shoes are best for support, but otherwise, there does not seem to be a need for any corrective items.

2. Atlantal-Axial Instability: this was the biggie. Here, I'll quote from http://www.ds-health.com/aai.htm:

AAI denotes increased mobility at the articulation of the first and second cervical vertebrae (atlantoaxial joint). The causes of AAI are not well understood but may include abnormalities of the ligaments that maintain the integrity of the articulation, bony abnormalities of the cervical vertebrae, or both.

In its mildest form, AAI is asymptomatic and is diagnosed using X-rays.....Symptomatic AAI results from subluxation (excessive slippage) that is severe enough to injure the spinal cord, or from dislocation at the atlantoaxial joint.

Approximately 15% of youth with DS have AAI. Almost all are asymptomatic. Some asymptomatic individuals who have normal X-rays initially will have abnormal X-rays later, and others with initially abnormal X-rays will have normal follow-up X-rays; the latter change is more common....

The neurologic manifestations of symptomatic AAI include easy fatiguability, difficulties in walking, abnormal gait, neck pain, limited neck mobility, torticollis (head tilt), incoordination and clumsiness, sensory deficits, spasticity, hyperreflexia...and {other spinal cord} signs and symptoms. Such signs and symptoms often remain relatively stable for months or years; occasionally they progress, rarely even to paraplegia, hemiplegia, quadriplegia, or death. Trauma rarely causes the initial appearance or the progression of these symptoms. Nearly all of the individuals who have experienced catastrophic injury to the spinal cord had weeks to years of preceding, less severe neurologic abnormalities....

Most importantly, symptomatic AAI is apparently rare in individuals with DS. In the pediatric age group, only 41 well-documented cases have been described in the published literature....

Asymptomatic AAI, which is common, has not been proven to be a significant risk factor for symptomatic AAI....

Ok, so what does that mean? It means that there is/was a possibility that Sofia's neck vertebrae could be a little too mobile for her own good. So she had to get neck x-rays (she wasn't thrilled, but the techs were very very skilled and it was a quick process) before I could safely allow her to do things like gymnastics.

So I'm VERY pleased to report that her neck looks just fine, not too much mobility at all. We'll recheck when she's about 5 years old.

They also xrayed her hips, because the loose joints can develop problems, but everything looked fine there also.

Whew!