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This fundraiser ended on 12/14/12

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Please help us raise money for special genetic testing to help us give birth to a baby of our own without the risk of OTC.

Hello everyone!
Thank you so much for stopping by our page. We are Lisa and Bill, which make up the Normand Family…well, it is just the two of us currently, and we would like a third member. A child we can raise and love with all our hearts. However, we had have some difficulty and we hope maybe you might be able to assist my husband and I in our cause / journey, and this is our story:

Since 2009, My husband and I started to try to start a family. After 3 years of no success, we reached out to my OBGYN, After several testing procedures (all normal on both our ends), ovulation timing tests to determine 'the right time', and still no results, we met with an IVF specialist, and it was determined we are good candidates for conception through IVF. My insurance will cover the IVF and the birthing process, but here is where it gets tough…

You see, I was born with a rare genetic condition called Ornithine Transcarbamylase deficiency (OTC). I am the oldest female (37) with this disorder as far as we know. I have had two brothers with this disorder as well, one older and one younger. One did not live past 5 months, and the other, only 4 days.

Via Wikipedia: “Like other urea cycle disorders, OTC affects the body's ability to get rid of ammonia, a toxic breakdown product of the body's use of protein. As a result, ammonia accumulates in the blood causing hyperammonemia. This ammonia travels to the various organs of the body.”

My liver is enlarged and will not produce enough of the enzyme, ornithine transcarbamylase, where it is produced normally. (Kind of odd since you would think, “Bigger liver’ more enzyme, right?) lol.

This rare disorder attacks the 'x' chromosome, and females, having two, have a better chance of surviving. Half of males rarely live past a month and even then, the other half die before 5 years.

If you want more information, and a good definition, Wikipedia does a great job:
http://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency

I currently take a special medicine that binds to the ammonia, and flushes it out of my system. You would not believe the amount of pills I take on a daily basis. lol. I was diagnosed when I was 12 months, and I went into a coma when I was 15 months. Since then, I have had very few smaller hyperammonemia episodes over the years, and now it is managed carefully.

Ok, here is where you come in:
Since our goal is to have a child without OTC, and because I am affected and a carrier, after they take my eggs and combine them with my husband's part, they need to grow the Zygote (Fertilized egg), until it splits a few times (about a few weeks) and they need to take one of the 4-8 cells, of the (hopefully 3) fertilized eggs, and send them to be tested, and the cost of genetic sequencing, to help us produce an offspring without my rare genetic disorder far exceeds what we can financially achieve. Both insurance carriers considers the testing facility to be a 3rd party and will not cover any costs. If we do not do this critical testing, our possible child can be born with OTC and the cost of healthcare for this child would be far more then if the my health insurance covered the cost of the genetic testing right at the start, which quite honestly baffles all of us involved, and now likely you, reading this.
Our cost just for this testing is $6500.

After speaking to the genetic facility, my genetic pediatrician, the executive director of the NUCDF, my IVF doctor, and raregenomics.org for any sympethetic assistence they knew of to help us achieve our goal, we were then directed to Giveforward, in hopes of helping us offset this rather large bill for testing.

Thank you so very much in advance for listening and reading all this, for any and all assistance you may provide for us, and the opportunity to help people like us, who just want one child, someone to carry on our family legacy.
A healthy child free of OTC, if we can possibly help it.

Thank you so much again,
- Lisa and Bill Normand
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