Appointment Frenzy

Okay, so I'm not in the mood to think up of clever titles right now. I hope that's okay. I spent half of Friday making appointments.
Neurology... I got one pretty fast, September 11th.
Urology... the doctor is on vacation or will go on vacation and doesn't have an opening till October 7th.
Genetics... November was the soonest they had! What? So I made that appointment, hung up, and called NYU Medical Center. I have gathered information and it seems to have a great geneticist. I wouldn't like to travel, but I'll do what I have to. They gave me an appointment for September 21! Woohoo! That's only one month away. I'm very excited. Everything will get started before she turns one.

Over Shabbos a sinking feeling overcame me. All those appointments are in September and October. I agreed to the earliest appointments that were available and didn't check the calendar! Surely they are all on Yom Tov!
But after pulling out a calendar and checking, I was able to heave a sigh of relief. They all cut close, but were in the safe zone! One is on erev Shabbos, another on Tzom Gedalya (day after Rosh Hashana!) and another on chol hamoed Sukkos. So close, but so perfect. Hooray!


I'm doing what no mother of an undiagnosed child should do- googling symptoms. True, it's easy to get scared that way, but I find it useful because when I read up on chromosomal disorders and their symptoms, I get ideas about what counts as a symptom.
For example, one condition listed high pitched voice as a symptom. True enough, Adi's high pitched voice is what earned her the title "Birdie." {lol}

Then I come upon a list that's all too familiar: (Taken from here.)

In babies and children with ring 13, these typically include a wide bridge to the nose. The forehead may slope back to the hairline and the ears are very often large and may have an unusual shape or be set low on the head. Around half of all children with ring 13 have a noticeably small jaw and chin. Eyes are often set far apart and may have tiny folds of skin across the inside corners. Occasionally, children have hooded upper eyelids (ptosis). If the lid interferes with vision, it can be lifted in a small surgical operation. Other features remarked on by one or two families include a thrusting tongue and protruding teeth, slanting eyes and a skinfold on the forehead.

Most children have a very small head and the bones of the skull may be small compared with the size of the face. In a few children, some joins (sutures) between the plates of the skull fuse early, giving the head an unusual shape. In other children, the main soft spot on top of the head (anterior fontanelle) is small at birth and closes early.

The list also mentions something about kidneys. Many of the symptoms didn't apply to Adel, so I'm not saying this might be it, but I was happy to find such a list so I can get ideas of what to add to my list.