I have been told by people that they had bad experiences with specialists. No one listened to the parents, they were made fun of and sent home with a diagnosis of paranoia. As awful as these stories are, I'm glad I am hearing them so if it happens to me I will know it's nothing personal- it's just something to overcome.
I've stumbled upon Cri Du Chat (here and here) and Ring 13 in my searches. Both have small birth weight and slow growth as one of their main symptoms, but Adel was born 9 lb 12 oz and is now in the 90th percentile for height. Other than that, many symptoms seem similar.
I found a site where you can choose a set of symptoms and peruse the results:
First I picked the combination of developmental problems, malformed ears and small head.
I got about 45 matches for this combination of symptoms.
It's a big challenge to plow through everything. I know a child doesn't have to have ALL the listed symptoms to have that disorder, so it's almost pointless to look through the lists.
The only benefit is that I will see what counts as a symptom. (Like I mentioned, I never knew high pitched voice was a symptom for anything... I found out through my searches.)
I also just now discovered that down-turned corners of the mouth and growling are listed as symptoms. Looking at any picture of Adel it's obvious about the mouth corners. And she growls a lot! One of her nicknames is Baby Growl. But it's in the same category as low voice, which Adi definitely doesn't have. She has high pitched and squeaky. I added down-turned corners of the mouth to the list and got these results.
If I sound obsessive, I'll be the first to say that yes! I am! It's hard not to obsess in such a situation.
If it seems like I'm going overboard or panicking, I'll have to wholeheartedly disagree. I'm doing this research in a very businesslike way. I know it's not possible to find what is wrong with Adel online. But it is possible to glean information and be more knowledgeable on all matters chromosomal.
I think I should start obsessing about how I will get to the geneticist in Manhattan at 10 AM the day after Rosh Hashana...
maybe ignore Dr. Google till you see a specialist?
ReplyDeletewhen you go, take pen and paper and take notes. come prepared with a list of questions and concerns.
where in Manhattan is it? you can probably get there by train or take a car service.
I think you are doing what we all do. Especially when you have experienced, or are anticipating, doctors and specialists ingnoring, or down-playing your concern.
ReplyDeleteAdel is beautiful and regardless of any condition she may or may not have she seems to be so bright and happy and is sitting up! That is an accomplishment. I believe that good things are in store for her. FOR SURE!
Until then, you are doing the right thing by keeping yourself educated - as long as you continue to stay grounded and spend more time getting to know Adel the person rather than cataloging her symptoms - which I believe you are doing a fine job at.
You are a great mom!
LE, I am basically ignoring Dr. Google for all intents and purposes as it pertains to Adel. I'm more interested in filling my brain with facts and the lingo and knowledge of procedures so I can be a better advocate for my baby once we see the specialist.
ReplyDeleteLauren- yes, that's great advice. I try not to let my worries cloud my personal interactions with Adel. :) She's too cute for that.
a healthy balance of emuna & bitachon, consulting Rabbonim, self-research and documentation, and working with the doctors is the best. it's sounds, my dear friend, that you're doing just the right thing and your kinderlach are so blessed to have such a caring mother. hang in there, we're all davening for you & Adi. only besuros tovos.
ReplyDeleteThanks for the vote of confidence, Hila. :)
ReplyDeleteLE- I will probably take the train, but I have to research which lines, which transfers, etc. It's not difficult, but it will eat up some of my need to do something for Adel.