Sunday, May 08, 2005

Let's Start at the Beginning (it's as Good a Place as Any)

This is my first time with a blog. I've read some of the infertiles' posts and pregnant infertiles' posts, and wanted a place to vent /discuss my treatment/trials/tribulations. (It seems terrible, classifying these dear people by their difficulty in trying to conceive and/or carry a child, but this is what I've read).

Today is Mother's Day. I just got my most recent negative hCG test yesterday. Fantastic timing, especially since I had so many symptoms, and I would have bet my house I was pregnant.

Since this is brand spankin' new, let me sum up what has brought me to this point.

For as long as I can recall, my mother had difficulty walking. The proverbial 'they' thought it was Multiple Sclerosis, although all of her tests were negative for MS. Her mother had difficulty getting around as well, but no one was sure what the cause was. Over the years both she and my mom progressed steadily and slowly, and my mother required a wheelchair once I was in high school. My only sibling, my 18 month younger brother, started to have gait, bowel and bladder problems at 18. Red flag! Something was clearly going on. When I was 24 and working reception at a neurologists' office, I mentioned this family history to one of the doctors who was intrigued. He brought my mother and brother in, examined them and sent them for a series of tests. We discovered that my brother had adrenoleukodystrophy (ALD), and my mother was a symptomatic carrier. My sweet grandmother, who passed away from a brain tumor when I was 17, had apparently also been a symptomatic carrier.
This is an X-linked trait. Since males are XY, affected males will have the disease. As females are XX, the other X supports the affected X, and the symptoms are lessened. Males can pass on the disease on their daughters, who will be carriers, but not their sons. Female carriers can pass it on to sons and daughters. Or have healthy children.

Everyone else in my mom's family (2 brothers & 2 sisters) was tested, which revealed one of her brothers had the disease. I was also a carrier. My uncle was fortunate enough to start developing symptoms at about 50 years of age. That was 10 years ago, and he has progressed to this point of using a cane. Thankfully he and my aunt had only boys so the disease ends with him. My brother, who is now 33, is wheelchair bound and has no strength or sensation in his legs. He has little to no bowel or bladder control. His adrenal glands produce insufficient amounts of cortisone, so he has daily cortisone injections. Due to these injections, it has increased his blood sugar levels so he is now an insulin dependent diabetic.

Despite all these problems, he is arguably 'fortunate'. When this disease manifests itself later in life, it's called adrenomyleoneuopathy (AMN). It's the same disease, just the adult onset. The ALD childhood onset may start anywhere from 4 to 8 years of age. Symptoms include an ADD-like disorder, spastic gait, progressive impairment of vision, hearing, and motor function. Rate of progression to total disability varies from 6 months to two years, followed by death at varying ages. So he is certainly lucky he was spared this fate. His condition may never progress to his brain, but only time will tell.

Mr. Right and I were married in August of 2001, and we were glad we could enjoy our honeymoon before All Heck Broke Loose on 9/11. After I turned 32, we thought we should start thinking about having kids. We met with a genetic counselor to discuss our options of having a healthy child of our own. We were thrilled to discover we had options! First we had to test my DNA to discover the exact genetic mutation. Discover it they did - oddly it was the year of my brother's birth: nucleotide 1972A.

(I'm a mutant! Too bad it's not as cool as Rogue or Jean Grey; I only have the ability to pass on an affliction to my offspring.
; p)

Our options were:

A. Get pregnant and do chorionic villus sampling (CVS) to test the fetus for the ALD gene mutation. (This was not our preferable option, as we were determined to prevent passing this gene on to another generation and condemning our child to suffering with this disease. At all costs).

B. Go through IVF, biopsy the day 3 embryos and perform preimplantation genetic diagnosis (PGD). What this means is that the single cell biopsied samples are sent via courier to Michigan, where the kind genius doctor and his team are standing by. Once they receive the cells, they perform a marathon testing session until they identify which of the embryos are affected males, carrier females, or completely unaffected. Then the IVF facility calls me in to transfer the unaffected embryos back into my happy waiting uterus and I get pregnant.

Naturally, we were going with Option B.

It turned out to be a bit more complicated than we had (naively) hoped.


At 6/10/2005 4:10 PM, Anonymous Anonymous said...

Dear Anne,
I followed the link from your comments at Naked Ovary. We are in a similar situation (different genetic problem). We have just started the ivf / pgd process (as in, we have scheduled the consult with the RE).

At 6/10/2005 4:19 PM, Blogger Anna said...

Hi Luolin,

From what I understand, there are MANY successes using the pgd. It's fascinating and incredible that this technology is available; to be able to prevent your child from having this genetic problem - it's science fiction turned reality! I wish you and your dh the best in this endeavor. How did you find out about your problem?


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