This little girlie has much to share.
Like her long awaited test results!
Angelman Syndrome: negative
Prader-Willi Syndrome: negative
Cohen Syndrome: no results yet, but I suspect negative
I was really hoping to get an answer this round so that we can close this chapter and move on to the next one- working with the diagnosis rather than searching for one. I'm happy that she doesn't have either of these syndromes, but I'm mourning the loss of an expectation- an expectation to finally set my feet on solid ground, regardless of how difficult it may be. So we continue to flounder on.
EEG: I'm breathing a sigh of relief- no seizures! Baruch Hashem!
Although the episodes did register on the EEG, meaning the activity is involuntary and comes from some brain activity. The fact that it registered is a comfort for me, especially since I know it's benign, because I knew it was something. Now they can monitor it and keep it in her file, which is great. To all the fellow special needs mamas- the neurologist mentioned it's called something non-specified flow something or other. Anyone know what that is?Adel's normal brain waves are slow as well. I'm not sure what it indicates. One thing I know about this is that slow brain waves are more susceptible to seizures so I was told to keep an eye on the episodes, as well as anything else that may develop.
Adel was drumming on a ball with a Tinkertoy rod a few days ago, when she drummed too hard and it flew away. Without hesitation, Adel transitioned onto her stomach, and for the first time in her life, pulled herself forward with her hands, about a foot, to get it. I kept inching the stick away from her, hoping to get her to slither more. It worked until she figured out what I'm doing and screamed at me for being mean. Retrieved her rod, sat back up and continued on drumming. She has sporadically pushed herself backwards before, either on her tush or on her belly, up to 6 feet. But this was the first time she went forwards, and the first time she did it in order to achieve a goal (get that rod!) She also started going into an almost-quadruped position (on hands and one knee. The other leg is tucked under her belly.) It won't be long till she starts crawling, I think!
(Cute baby in home-made booties 
)
)
B"H, only more revealed brachas and simchas and good news.
ReplyDeletesorry about the lack of dx. that is hard.
ReplyDeletebut! that is GREAT news!!!! Mazel tov!!!!! may this be the beginning of her going forward for many great things!
great news - my question is, is there a chance that adel might "outgrow" these symptoms? i have a kid with irregular brain electro-chemistry and his neurologist feels strongly he will outgrow it.
ReplyDeleteHi, friend! Great news. I know it is hard not to have a dx - but it is also good to know what it IS NOT and cross those things off the list.
ReplyDeleteRegarding the EEG - I have no idea what is registering on the EEG (non specified flow...) - never heard of it before. Very interesting.
Norrah just had her EEG and the results were negative for any abnormal brain activity. NO SIEZURES! Her neuro did say that her brain waves were slower for age too but that it was to be expected because she is developmentally delayed. He said many kids with delays have slower brainwave activity.
Hi Lauren. :) We got the paperwork back and apparently the methylation test only detects 80% of Angelman Syndrome cases. Everything I read about AS led me to believe this is it, so I want to talk to the geneticist about it further.
ReplyDeleteThat's great that Norrah doesn't have seizures. :D
Pnina, on the results we got in the mail, the neurologist wrote "probable severe syndrome." There is a chance she'll catch up but I'm not pinning my hopes on that. She has dismorphic features that likely indicate a syndrome. As I wrote in this post:
http://poozils.blogspot.com/2009/10/new-headache.html
Is there a chance she doesn't have a syndrome of some sort? There is a chance for anything. Her huge delays have to stem from somewhere, be it genetic or neurological. Also her physical features: microcephaly, micrognathia, wide set nipples, flat nasal bridge, miniature teeth, EARS (shape and low set), skin tag, absence of reflexes in arms, it all points to SOMETHING. Besides, the geneticist is pretty much convinced it's a syndrome.
I just know more than one special needs mother who allowed her well-meaning friends to convince her that her child is really fine, so when the diagnosis came it was a huge blow. I'd rather get a lovely surprise than a nasty blow, should either if them happen. KWIM?