Jen got a call from her doctor on Thursday. He left a message on her cell saying he wanted to talk to her about some test results. That's never good. At his office they only call if the results are bad news. Jen got the message late on Thursday, so she wasn't able to try to get back in touch until the next day.

I was ready for an anxious evening on Thursday night, but we actually had a great time. Jen went to tango class, and then we walked down to 14th street for tapas and sangria. The subway ride home was interminable, but overall everything was relaxed and happy and we enjoyed our impromptu date.

The doctor finally called Jen back late Friday afternoon. The news was unexpected and bizarre.

Jen carries a gene for Spinal Muscular Atrophy. SMA is a term for a family of disorders that manifest as muscle weakness due to the loss of motor neurons in the spine. People who have SMA can't move or breathe or do anything that requires muscles very well, with varying levels along a spectrum. For example, for someone with adult onset SMA life expectancy is normal, but its still a degenerative disease that leaves the person wheelchair bound eventually (and at risk for many complications, including deadly respiratory infection). For someone with type I SMA, life expectancy is 7 months.

Most of the literature focuses on types I and II SMA, the kinds where your baby is extremely debilitated and dies before they're 2. I'm not sure if this is because these types are most common or because they are most terrible. Or both.


The doctor advised genetic counseling, which we're pursuing. For now, we know the basics. If Jen has a child with a donor who is also an SMS carrier, we have a 1 in 4 chance of the child having the disease, with some variety in there for gender bias and other statistical variants. Jen is firmly against the possibility of terminating any pregnancy she conceives. So we really don't have the option of just trying any old donor and then testing for the disease later. If we could get a donor that we KNEW was not a carrier, that would be ok, so we're trying to figure out which banks, if any, might have this information, or can get it for us.

And frankly, I'm feeling sort of lucky that we are in this situation and COULD find out through testing about Jen's being a carrier. Most people find out when they have a kid and it becomes apparent that their child has a horrible and deadly disease.

In the meantime, we've had some more discussions about me possibly being the biological mother of our children...which I must admit, is a rather daunting prospect for me, but I'm getting more enthusiastic. Its just...

I had envisioned this whole role for myself. This whole road to motherhood that didn't involve me as the birth mother. And now the role might shift and just as I know Jen will be disappointed if she has to give up the thought of being the bio mom, I'll be disappointed to give up the version of motherhood we were inventing for me.

We'll see.