17 months... sounds soooo big!
Adel is progressing so, so much. It's so heartwarming to see. It's a little... I don't have a word for it... but I see kids her age sitting on
big kid swings while their mamas gently push them. I see kids climbing on the jungle gyms and tantrumming when they want to go on the swings but there are none available.
I don't feel sad, or hurt, or jealous, chas v'sholom. I just feel... hey, that kid can do it and mine can't. And they are the same age. Wow.
I try to focus on what she CAN do. But often I must focus on what she can't- in order to help her advance. One therapist made an observation- that Adel has to be taught to do everything she does. Stacking blocks, opening flaps, hugging dolls, putting things in containers, turning gears on toys, pushing a car back and forth, lifting a blanket to find a toy you just covered- it was all taught, and she would not have learned to do most, if any of these things on her own.
But, she can do all these things now, and that's what matters. We have to keep on stimulating and teaching her, and she will keep progressing IY"H.
Here are some of her achievements of the past month.
She hugs her doll, says, "Ahh, ahh, ga," and
blows her nose in kisses her. I hear her say
ga,
gaga or
gag (like "gaga" without the final "a," not like someone gagging) every time she rocks her doll. I thought she was trying to say "baby," but the b sound is easier for Adel to make than the g. So what's up? Then I figured it out- the therapists say "dolly" while we say "baby." So I think Adel is trying to say "dolly." It's a little hard for me not to be the main educator of my baby. It feels like I am somewhat of a stranger when I discover she knows the word "dolly" and "kush."
I'd tell her, "Make a kissy for the baby," and she'd give me a blank look... while the next day the therapist would say, "Make a kush for the dolly," and Adel would promptly blow her nose in it.
I taught Adi to ask for food rather than whining and crying. I taught her a simple sound, "am," and a sign of putting her finger to her mouth. The sign seemed to be a great facilitator, helping her learn the word "am." Now when I am eating, she will repeatedly say, "
Am? Am? Am!" until I share.
"Am" is her generic word for food. She has a specific one for nursing. It has a funny history. actually.
When she was a newborn, she cried for different reasons in different ways. When she was hungry, she cried, "Nge! Nge!" The boys (and I!) were amused with this term of hers and considered it her word for nursing. We used it. "Adi wants nge-nges? Yeah? Okay baby Adi."
You can hear her say nge-nge in a video
this post when she was about 7 months old. At that time it was still unintentional. She outgrew that cry, but since we were using the word on a regular basis, she picked it up, and is now using it! When she wants to nurse, she will crawl to me and say, "
Nge-nge!" (while crying to underscore her point.
)
Here she is in action.
When she wakes up to nurse at night, I whisper to her,"Nge?" and sometimes she responds with, "Ngeeeeeee...." in her sugary, sleepy little voice. It's the sweetest thing in the world, and I wish there was a way to bottle it and pull it out when I'm feeling not so great.
So that brings her vocabulary up to:
ah-mya - meowupga - doll?am - eatnge-nge - nurseWhich is almost unheard of for a child with Angelman syndrome.
Wait a minute... didn't she
test negative for Angelman syndrome?
Good memory.
That test detects only 80% of all cases. I asked the geneticist about the other 20%, and he said that if there is reason to continue down the AS venue, there's another test he can conduct.
Last week we went to Manhattan to see the neurologist. She has renewed faith that Adel has Angelman syndrome, although she doesn't want it to be it (LOL. As if she gets to choose.) There is one more test- the gene UBE3A. It's kind of a non-typical AS, where the child is higher functioning and does not present as many features of AS.
I asked if by looking at her face she'd guess Angelman, and she replied that yes, she would. One thing that solidified her opinion is the way Adel was singing for her, on perfect tune, all the songs she knows. As of now, Adel can sing Twinkle, one Purim song, one classical music song from one of her toys and one song that Zusha made up for her about nge-nge (lolz). All recognizable by people other than myself, so I know that I'm not an obsessive mother. :P Adel would start singing, and just as I would think, "Hey, is that_____?" one of the boys would call out, "Hey, Adel is singing _____!"
In any case, when we were leaving the office, she said, "You know, I wasn't going to tell you, but Adel's singing was very intriguing to me because Angelman kids are very musically inclined. There is even a special therapy that uses music to facilitate all other development."
Aaaaah! Now I will have to wait another month for the UBE3A test, and another month or two for the results. I won't know anything until the summer. And even if that comes out negative, that still doesn't mean that Adi doesn't have Angelman! Crazy, huh? There are some cases that just don't show up in the genes (at least not in the way our current technology can detect them.) Then we would have to wait until Adel is 4-7 and give a clinical diagnosis (as opposed to genetic diagnosis, clinical is just given based on the symptoms.)
I joined an
Angelman Syndrome forum (hey, I need a support group, and this is the most fitting one for now.) There is a wealth of information there. One poster (Magster's Mom- she is very knowledgeable!) described the form of Angelman syndrome that Adel will be tested for next, and how this form affects speech:
I've heard of a few people with AS with extensive vocabularies. These people usually do not have deletions and usually have mosaic genetic errors, meaning some of the cells in their bodies are normal and do have some paternal gene expression, while others are not. But its definitely possible. There was a mom I talked to in the US mid-west with a daughter who did schoolwork nearly at grade level and talked in full sentences with a speech impediment but was understandable to almost anyone who spoke with her. She had a genetically confirmed case. She was an interesting case since she had a mosaic genetic defect, confirmed with testing, but didn't have the clinical symptoms you would expect. Sort of the mirror image of a clinical diagnosis where you usually have the symptoms but not the confirmed genetic defect. I know its possible but its just very rare. Whatever UBE3A does in the brain, I think its most important function is the production of speech and language development.
We also went to the orthopedist that day... wasn't a picnic on the beach, to put it nicely. And I
will put it nicely, because I don't want to mess up Adel's sweet 17 months post with it.
I'll post about the orthopedist that should really retire a different time.
Happy baby.
We just had a Pesachdik Shabbos. No hectic headless-chicken maneuvers for 
