OK. We are done with all the tests to determine how Josephine has been affected by Tetrasomy 8p.
As of December 30, 2009, here’s where we stand so far..
- Hypoplastic left first rib
- Assymetry of left side of rib cage – ribs flair out
- Agenesis of the Corpus Callosum
- Hypotonia
- Speech delay – at 16 months old, her developmental age is 6 months
- Cognitive delay – developmental age is 7-8 months
- Gross motor skill delay – developmental age is 6 months
- Fine motor skill delay – developmental age is 6 months
- Pelvic kidney on left
- Failure to thrive – recent weight gain was 3 oz. in 4 weeks (1/2010)
- Prone to future seizure activity
- Epicanthic folds on eyes
- Flat bridge of the nose
- Slight cupping of the ears
- Trigger finger on right index finger
- Exotropia of the eyes (mild case)
- Retnal development is good and not affected
- Excellent heart, lungs and liver
- PERFECT IN EVERY WAY!
This may be an obvious question, but, which of these things is the most concerning? I know that she is perfect in every way… that just goes without saying… but since we’re here…
Out of all of these symptoms, my biggest concern is with her fine and gross motor skills and speech delay. It’s hard to know when Josephine will do certain things, if at all. Certainly, we think she will be able to talk, but it might not be until she is 3. Certainly, we think she will walk, but it might not be until she is 3. See where I am going with this? We are just taking each day as it comes and are celebrating the milestones she accomplishes when she accomplishes them. If we focus on the “will she” moments, it brings us down mentally and emotionally and we want to project a happy and supportive environment for Josephine. Make sense?
And feel free to ask anything or comment on anything! No holds barred! We want everyone to be aware of every aspect of this disorder, so no question is obvious or ridiculous.
Thanks!
If she never knows she can’t… I believe she will!!!! Even if it takes a long time!:)
Thanks, Ann! I couldn’t agree more!