Tuesday, February 17, 2009

A Bit of Clarification

So I was chatting with someone about my post tonight about Dovi being in crisis.

She was like "What did you mean my that?"

And I said "He's in crisis, what do you mean?"

And then I realized she didn't know what I mean.

So I'll give another recap of Dovi's disease.

Dovi has Familial Dysautonomia (FD). It's one of the Jewish Genetic diseases, just as common as Tay Sachs. Every 1 in 30 Jews of Ashkenazic (Eastern European) origin is a carrier for FD. You might have seen the man on the Colbert Report who mapped his own genome? Well he mentioned that he found that he is a carrier for a disease. That disease is FD.

FD is autosomal recessive. That means that in order for a person to have FD, they must inherit a mutated gene from each parent. Remember Punnet Squares from high school? Big A Little a? Well Benjie and I are Aa and Dovi is aa. Make sense?
The chance for two Aa people to get together is 1:900. (1:30x1:30) and then the chance of those people having a child with FD? 1:3600. (1:900x1:4). Benjie and I should go out and buy some lottery tickets.

Back to FD.

FD is a disease of the autonomic nervous system. Simply put, the autonomic nervous system controls everything that our bodies do automatically-blood pressure, temperature, breathing, swallowing, etc. People with FD? Their autonomic nervous system is not fully developed. So these automatically controlled processes? Don't get so automatically controlled.

In other words, Dovi is messed up.

I don't think there's any other way say it.

Symptoms of FD include:

Unstable temperature
Unstable blood pressure
Diminished sense of heat, cold, and pain-as in Dovi can touch a burning hot pot and not feel it. Or break his leg three times in six months and not feel it.
Lack of overflow tears
Diminished taste buds
Low muscle tone
Absent suck/swallow reflex
Aspirates all liquids
Developmental Delay
Blotchy skin
Unsteady gait
Dysautonomic Crisis

Yes, Dovi has every. single. one. of. these. terrible. awful. symptoms.

Which brings me to what I was talking about.

Dysautonomic Crisis.

And no, Raphi, Dovi doesn't do crisis. This is his first major crisis in maybe two or three YEARS. I gave myself an Ayin HaRah-an evil eye-in other words, my non-Hebrew readers, I jinxed myself on Sunday night when Raphi was here and I said "Dovi never goes into crisis!"

Hardy har har.

What is Dysautonomic Crisis?

I liken it to a perfect storm. Dovi's autonomic nervous system does not function correctly. When his body is stressed, due to physical illness, emotional stress, or really nothing at all, a person with FD's body can go into a Dysautonomic Crisis.

Symptoms of FD include:

Crazy out of control blood pressure (177/121 anyone?)
Extra blotchiness
High blood pressure
Increased heart rate
Did I mention retching?
Did I mention high blood pressure?

Poo Dovi, his body just does haywire. Some kids with FD experience prolonged crisis on a daily basis. We're "lucky" - Dovi goes into a minor crisis every morning, which is quickly taken care of by medication, and a crisis like he had tonight? Maybe once every year or so. Have you ever heard of Cyclic Vomiting Syndrome? That's basically what's happening here-except that when Dovi was 3 months old and got his g-tube put in, they also did a procedure called a Fundoplication-essentially wrapping the esophagus around the stomach, making a one way valve to reduce vomiting due to reflux. So when Dovi's in crisis, he retches. a lot.

How to stop crisis?


For Dovi, it's all about the Vitamin V. The valium brings his heart rate and blood pressure down and allows his body to "reset" itself. Sometimes he needs Catapres (blood pressure medication) as well to get under control.

So that's what happened tonight. It was very disconcerting for Benjie and I because we're simply no used to him going into crisis like this. He did wake up around 9:30 needing more valium, but hopefully he'll get a good night's sleep and sleep it off.

We'll have to see in the morning what tomorrow will bring.

Have I mentioned recently that FD really sucks?


agent99 said...

Sorry to hear the boy is having a rough spell. Hope everyone is better soon!

Shosh said...

Thanks for the explanation. Did not know about the FD crisis thing, though I did know all about Punnet squares....Good old Mr. Newman.
How's Dovi this morning?

Shira said...

Yea, how is he? What triggers crisis? And how did you know to take his BP?

Miriam said...

aww... if you need anything let me know! Even if you just need a break!

Rach said...

Thank you Sara. I was wondering and felt weird to ask. I was thinking of Dovi though last night. Hope you and him got some sleep.