Another Experiment

My neuro doc has requested my spinal fluid..... How do you say no to that one??? Considering I am one of only a handful (living) with the SOD1 mutation, the type of ALS that runs in families. Add to that I am the genetic carrier for Down Syndrome, of which my son has. Both genetic dysfunctions happen to appear on the 21st pairing of chromosomes, puts me in some what of a freakish category.
They want to study my plasma to try and determine if a link between the two can be found. If so, genetic altering in the future maybe a solution for high risk individuals. My daughter also is a genetic carrier for Down Syndrome. I found this out while pregnant with her after an early amnio revealed results.
I still remember the day October 15, 1999. It was 5pm on a Friday. I couldn't wait any longer and called the Dr.'s office one last time in hope that an answer would end my racing mind.
He said, yes Mrs. Kidd, your baby is going to be fine, however is a carrier and shares your same genetic makeup. I knew then, the baby was the girl I had always dreamed of having.
She has a 50/50 chance of also having the SOD1 mutation. She can not be tested until she is 18.
I am doing the best I can by leaving enough information behind for her so that she will understand (if that's possible for anyone) what her genes mean. I pray that by the time she is ready to start a family that genetic altering will be a common practice so she will not have to face a decision that I was going to make. I already had one child with Down Syndrome, I was not willing to have two.
I made my mind up early in the pregnancy that if the results were positive, I would terminate the pregnancy have my tubes tied and never have to face this horrible life altering decision again. But the Divine had other plans for me and mine. I recieved a precious daughter, who loves me endlessly and sadly enough will loose me long before I am ready to say goodbye.
I developed symptoms while pregnant - over 7 years ago now. I struggle with the fact she never knew me well. We never got to run through the sprinkler together as Jordan and I did when he was younger.
So this all brings me back to my appointment on friday. Yet another procedure that won't heal, help or bring hope to my immediate future. Only the possibility it may save my daughter. I told my husband yesterday that I didn't care if they ripped my arms from my body if there was a chance she wouldn't have to experience this disease.
An extreme analogy he says..... but truthful. I would and will die for my children, to keep them healthy, safe and alive.
After all what's one more spinal tap at this point.... I have already had 4. Gross. Life continues, and we must be grateful and thankful each day we get the opportunity to wake up and enjoy it!
B & L
T