Saturday, March 23, 2013
You read that right, it's not a typo. She has to transition out of the Babies Can't Wait program (part A) into Part B. I'm still a little confused, though. I'm not sure I have to make her go into preschool next year. If I do, it has to be in our county so she can continue services while in school. That said, if I go back to work, she will likely end up in daycare/pre-k anyway. The meeting was very simple. I had filled out a packet left by our services coordinator with all the info they provided. Ellie played in a room full of toys while the services coordinator, myself, and the other educational lady talked about her diagnoses. There was very general conversation about her well-being, not much specifics. The lady gave me a packet of info, like how they classify, identify, categorize, etc. the children. They also gave me a progress chart for 0 months through 5 years. It sucked. It made me feel like she was way further behind than I had originally anticipated. After much review and chatting with friends she's not as bad as I thought. Most of her other skills are either on par or ahead for her supposed age group. Only her speech is seriously lagging. At any rate, we'll worry about putting her in a program if I end up getting a job.
Friday, March 8, 2013
*Sigh* The geneticist said that Ellie may have "Cornelia Da Lange" and not PRS. Of course, it's nearly impossible to tell because the symptoms are so identical to PRS: Low birth weight (usually under 5 pounds/2.5 kilograms) Delayed growth and small stature Developmental delay Limb differences (missing limbs or portions of limbs) Small head size (microcephaly) Thick eyebrows, which typically meet at midline (synophrys) Long eyelashes Short upturned nose and thin downturned lips Long philtrum Excessive body hair Small hands and feet Small widely spaced teeth Low-set ears Hearing impairments Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia) Partial joining of the second and third toes Incurved 5th fingers Gastroesophageal reflux Seizures Heart defects Cleft palate Feeding problems Hypoplastic genitalia Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members. Ellie was small at birth, small stature, delayed, small head, unibrow, long eyelashes, eye sight issues, reflux, cleft palate (which led to feeding issues). At any rate, bloodwork will be done. The geneticist will also be checking her thyroid and hormone levels to determine if the small stature is genetic and not something we can overcome. The geneticist also wants us to go see the ophalmalogist sooner than Ellie's birthday and get a bone age test. If the bones age shows the same age or older, it's a problem, likely associated with the CdLs. Ellie will also be getting a skeletal xray. In essence, everyone's just looking for an explanation to everything. I thought PRS was it but may be not. Her eyebrows aren't bushy or arched, but she does seem to have other issues, but again, thought those were attributable to PRS. The only real difference would be that they would need to check Ellie's kidneys if it is CdLs.