I wasn’t quite sure how to start this post. I want to be positive and upbeat while sharing what seems like relatively good information about the results of his testing, but finding the energy to be upbeat and optimistic these days is, well, difficult. Heck, finding the gumption to write this post was difficult as it’s been almost 3 weeks since we found out about the chromosomal abnormality and the hydrocephalus (explanation is below). Every day is an uphill battle it seems, working to make him strong and keep him on track, developing, receiving input as if he were a more mobile, locomotive, 9-month-old instead of a baby who would love to lie on his back all day. It’s working, I say to myself constantly (like a mantra you’d repeat if you were running a marathon) and we are making progress. But, it’s slow and when you’re used to getting instant results, it’s difficult to adjust to what seems like snail’s pace. We’ll keep at it, though (in case there was any concern.. 🙂 )
On 19 October we met with the Pediatric Development Specialist, Dr. Cooper, we’ve been seeing who, as of last update, had ordered a bunch of testing on Case. Here are the results of that testing:
Technical Jargon: There is normal distribution of the cerebral parenchyma without midline or migrational anomalies. The patient demonstrates an appropriate stage of brain maturation with some unmyelinated white matter tracks seen best on T2 and relatively normal appearances of the T1 sequences. There is mild enlargement of the CSF containing spaces with lateral ventricles which are slightly bigger than expected for a 6-month old (this was done over 2 months ago). However, the ventricular morphology is normal. Minimal enlargement of the cisterna magna is noted with normal vermis and tonsils as well as normal cerebellar sulcation. The supranatentorial sulcation pattern is also normal. The orbits and mastoid air cells are normal. The patient is slightly tilted in the scanner causing some irregularity on each slice.
Radiologist’s Notes: Very mild increase in the extra-axial spaces with a mild enlargement of ventricles beyond that expected for a 6-month-old. Otherwise, normal pediatric brain MRI.
Layman’s terms: Case has some extra fluid around his brain possibly as a result of prolonged labor. Dr. Cooper said she had expected to find this and that in most cases the fluid goes away by 18-20 months. Some children have clumsiness until age 5, but most develop normally after that. She said this could be part of his developmental delay.
Next Steps: We wait and see. Brian and I are taking this finding as ‘good’ news.
Technical Jargon: All metaphase cells show a structural abnormality of the long arm of chromosome 2, interpreted as an interstitial duplication of bands 2q31.1 – 2q32.2. This finding results in an extra copy (partial trisomy) of this the duplicated region. Genetic counseling is recommended for the family although we anticipate that this abnormality has arisen de novo. High resolution g-banding was achieved but this test does not address genetic disorders that cannot be detected by standard cytogenetic methods or rare events such as low level mosaicism or very subtle rearrangements.
Layman’s Terms: Case has a very small region on his 2nd chromosome that is duplicated. Duplication of genetic material may be inconsequential or not, to be honest there’s very little known about what each of the specific bands do and how they function. The cytogeneticist who did the lab work anticipates that this abormality is new and does not come from Brian or myself, however, he did recommened that we have blood drawn and have cytogenetic testing done to rule that out.
Next Steps: Brian and I have both had blood drawn and sent to be worked up. We will be meeting with Dr. Arthur Aylsworth of UNC Pediatric Genetics on 16 November for genetic counseling to discuss Case’s findings and our own (hopefully, the lab will have already sent our results to him – can never be sure!). For right now, I’m trying not to borrow trouble regarding this finding. There are lots of scary case studies out there indicating lots of scary outcomes for patients with duplications on the 2nd chromosome and knowledge in this case is more disabling than it is powerful. And so we wait…
Case’s test came back a little abnormal and Dr. Cooper suggested we be referred to a Pediatric Cardiologist to rule out any major problems. I’m currently waiting to get that referral. She did not seem overly concerned.
Ahem, well that’s good…
All good in the hood, here. He certainly seems to see us clearly, as he’s just developed some serious stranger anxiety (this is normal, and so we’re happy, actually).
We were referred to an ENT for the mucous cyst growing (since birth) under Case’s tongue. He did a CT scan and found that it went all the way back to the back of his throat and scheduled surgery. The next day, Case’s cyst went away. No joke. It just disappeared. One less this that little guy’s got to go through! WAHOO! We’re thrilled.
That’s all for now, folks. Hopefully I’ll have great news to share after our appointment on 16 November!