Thursday, September 14, 2006

West Syndrome Too

The Neurologist appointment was pretty despressing. Sheena was asleep when we met the Dr, but woke up about 10 minutes into the appointment. Usually with Infantile Spasms, they occur more so after waking up, and sure enough, he observed several episodes while she was on the examining table. Her seizures are more like half a startle reflex - really brief, and unless you are specifically looking for them, I don't think you'd pick it up. I think we've often thought it was excitement and wriggling. He thinks that these movements are the issue, but is less convinced about the eye blinking and lip smacking thing (although we didn't have the video of that to show him - need to send one into him).

Infantile Spasms is also known as West Syndrome. It is a combination of 3 factors, the spasms, developmental delay or regression and hypsarithmia showing on an EEG. While the hypsarithmia doesn't cause her pain (as such), he said that it seems to annoy kids, which is why she's been so irritable. I liken it to restless legs that you can't relax during a movie or in the car. He also thought that she might be having aura, a sensation that something is going to happen, which would also explain some of the grizzling. The worst news that he said, and I want to reject, is that kids with West and Down Syndrome, or even Down-West Syndrome (which rolls off the tongue very well) are more more likely to be on the lower end of the spectrum as far as the DS range goes. Didn't look like that yesterday, so I am still denying that will be the case with Sheena.

So anyway, now that a Dr has offically seen a cluster of her seizures, we also know what to look for, and we are to track it in a diary. He was happy to boost the medication significantly, and told us that we could dilute the sachet in 10ml rather than 100, which is much easier to give her twice a day. She's to have another EEG in 2 weeks, and we're to up the dosage again in one week if we are still seeing spasms. Pretty bad huh?

I am reluctant to just have shocking news on this blog, because I much prefer good news, so the good news is that Sheena had a nice morning with her dad while I was at work. They went to a DS coffee group where there were 4 other bubbas under 14 months. Another guy at the group is a house-husband so Mark wasn't the only bloke there. The coffee group is never too heavy, and rarely has a specific topic to address, so it is more of a chance to get together with other parents on a regular basis.

I am going to try to get some sleep now. Its 3.30 a.m. and I have to work tomorrow. I am a bit freaked out with all this stuff at the moment.


Michelle said...

I don't know anything about West syndrome, but it sounds like she's got good medical doctors looking after her care!

Glad to hear she had a nice morning with dad at the playgroup/coffee!

Christy said...

Down West Syndrome!

Anonymous said...

Hi there, my name is Lisa and I know Christy from Blue Bazaar.
Just wanted to tell you that your little girl is so gorgeous (takes after her mum)and I wish you the best of luck with it all.

mum2brady said...

I'm so sorry you got this diagnosis for Sheena, but I pray that knowing it will help to get rid of the seizures. I know it is difficult to get unexpected dx's and my heart is with you and your darling little girl. I have heard that kids often grow out of seizure activity, and I pray that this will happen for Sheena. She is beautiful, and whether she ends up on the high end, or the low end, she will still be beautiful, wonderful, and a gift!


jotcr2 said...

Thanks guys.

Rohit Vishal Kumar said...

Dear Jo:

I read about your daughter Sheena and I am contacting you because I face a similar predicament with my own 5 month old daughter. My daughter has spasms about 3-4 times a day. She contracts her head, arms and legs and curls up in a ball and lets out a piercing scream. This occurs for about 5-6 times and then she is back to normal. Her social development also seems to be retarded. The doctors here say 'colic' but I am not convinced. My search on the net pointed me to 'West Syndrome' which seems to fit the bill.

I would like to ask you whether Sheena also had spasm in the early months? If yes, how did you go about diagnosing everything and coping with the mental trauma? Please reply to me at rohitvishalkumar-at-gmail-dot-com. It will provide me with some guidance for how to deal with my situation. Many thanks

Princess Abigail .... said...

Hi there - I am delighted to have stumbled across your blog because your Sheena looks so gorgeous! It looks to me like her smile is as big as the rest of her! I have a two year old daughter ABigail who has a genetic disease called Jacobsens Syndrome, and she was also diagnosed at birth with West Syndrome. And I just wanted to say that neither are any bother : our little girl is out of this world, and with the medication, doesn't suffer at all from West Syndrome. So chins up and I'm sure you'll find all will be just fine for Sheena with her West Syndrome - it CAN be overcome. Stay in touch - I have taken a shine to Sheena!!!
Signed : Alison, Abigail's Mama, in France