5 month old was given 18 months to live, so her parents creates a blog to chronicle the short time they have left with her, from her perspective.
My buddy from college has type III SMA, I met a few people though him with type II, one of which passed away at 27. It's definitely a sad case. My buddy looked normal, although very skinny. People couldn't understand why he couldn't walk right, it was weird. He now uses a scooter to get around primarily.
I find it interesting that the parents are clearly very loving towards their child, but they are also advocating universal carrier testing for a relatively rare genetic disease with no treatment.
So lets say that you and your partner get carrier tested. If at least one of you is negative, it won't offer much peace of mind because the background risk of major congenital malformations is 2% which dwarfs the risk of spinomuscular atrophy.
If you're both positive, you only have a few options:
1) Break up with your spouse/significant other
2) Get prenatal diagnostic testing which requires amniocentesis, an invasive procedure with some risk, and expensive genetic testing. Abort the child if it is prenatally diagnosed with the disease
3) Accept the risk and roll the dice
...what exactly is this couple advocating. Would they abort a future child with spinomuscular atrophy even if they love their current child with the disease? They look pretty happy in those pictures, and a lot of other parents with disabled children are quite happy.
Do they really think that spreading awareness of a rare and untreatable disease with no benefit to early diagnosis or treatment is in society's best interest?
I personally believe that all parents should be aware of the non-negligible possibility of having a child with significant disabilities.
I think that the majority of society's resources should be used on common and preventable or treatable diseases. I advocate extensive newborn testing for treatable diseases like phenylketonuria, urea cycle deficiencies, sickle cell anemia, and selected other disorders.
I applaud the couple for making the best of a challenging situation.