But, having spent the day mulling over some information that I heard on HLN this morning, and then read in detail in the Rock Hill Herald...I think it's time to dust off my soap box and start bitching again like I used to.
It seems that the world is rejoicing the fact that many "lesser known" genetic disorders and diseases such as cystic fibrosis and tay sachs, are declining. Is it because they are being eradicated? No. It is because of the higher rate of genetic testing done by parents either pre-pregnancy or early term.
This pisses me off.
I find this sort of reporting irresponsible. Many people have short attention spans and although they are reporting the information accurately, the average American isn't going to get that far into the article to truly understand what they mean.
Most people will look at the headline, skim through, pick up a few key words here and there, and will come away from the article with the notion that these diseases are on the decline! Yay! That means I don't have to worry about them anymore and I can put my money and efforts into something else. Like breast cancer--you know--the one that people are most likely to recover from and the one that still receives the most funding over any other type of cancer--the one that has an entire month dedicated to it while other deadlier cancers go unnoticed. October should be Cancer Awareness Month...all of them....and the companies who spend millions repackaging their products so that they are pink for 30 days so they can donate .25-.50 cents per box irritate me. Those same pink items end up on clearance racks in every store with no money donated after that. They would serve the cause better by writing a fat check up front rather than waste the product and resources just to make them pink.....bah.
However...je divague
I feel like I am in a good position to speak about this from both sides. On the one hand, I am the product of the two "bad genes" and have to fight CF every day of my life. On the other hand, my husband and I underwent genetic counseling before attempting to conceive a child.
At the time, he was in the USAF and we had excellent health coverage. I knew that I'd been blessed with a mild/moderate case of CF. I had already lost a brother and did not know if emotionally I would be able to deal with it if I brought a child into the world who was 10x sicker than I was. We talked it out--a lot. We spoke with counselors and also geneticists. We decided that if my husband was a carrier we would just get another dog. That may sound cold to some, but in my opinion it was a decision easier to live with than those mothers of old who would wait until the start of their 2nd trimester, have an amnio, learn that their baby had Downs and then choose to abort.
Most peoploe familiar with CF know that there are between 1,500-2,000 different mutations of the gene that causes CF. You have to receive one copy from each parent to have CF. Millions of people carry a copy of the gene and have the potential to pass it on. Of those genes that have been identified, when a person is screened, the labs only check, on average, for about the 100 most common. Your DNA is a long complicated thing and it would take ages and tons of money to check for every single marker. As such, it is possible to have a positive diagnosis as CF with only one named gene marker (they look at other things, too, like your sweat test results, family history, breathing tests). On my gene map, I have only one CF gene showing. It is a common one (the D508 if I'm not mistaken) but the other one is a mystery.
Because I have a mystery gene marker, even though my husband came back negative, there was still a chance of the baby having CF because perhaps he also had an uncommon gene like myself. It was pretty heavy stuff to have to wade through and I'm thankful for the doctors and staff at UNMH who helped us.
Ultimately, we decided to try for a baby. I thank God every day that we did. She is amazing, and healthy! Though, she is a carrier now, which means her children could have CF.
See, that brings me back to the news story. I don't want the world to stop trying to cure these disease because they've read an article that says they are in "decline." The reason they are in decline is because the people who are having the tests prior to pregnancy are choosing not to have the babies. That's not a milestone in curing an illness, that's out-of-sight-out-of-mind.
Would I have been guilty of exactly the same thing had my husband turned out to be a carrier? Absolutely, guilty as charged. I already said, if we thought the odds were great that she would have CF, we wouldn't have gotten pregnant. But, the odds were low enough that we were willing to gamble.
Everything in life is a gamble and there are no guarantees. And not everyone undergoes genetic counseling before getting pregnant. As I said, at the time Uncle Sam was paying for it, that's the only reason it was even an option for us. If we hadn't had the insurance (like now) we would have had to research and debate and pray and maybe ultimately flip a coin on it.
It's only been in the last couple of years that SC added CF to their newborn screening (the series of tests newborns undergo during their first 24hrs of life.) And even with prenatal screening, and even with newborn screening, do you have any idea of the number of adults diagnosed with CF every year who spent their whole lives slipping through the cracks? No family history so no outward need for the expense to test for it. Perhaps you have chronic bronchitis, asthma, IBS, diabetes, etc, etc. Or in my sister's case, you're "borderline positive" for CF. What does that even mean?
It's bad enough that when I'm trying to raise funds for CF that when people read the CF Foundation literature and see that it "affects 30,000 children and young adults" they scoff at me. "That doesn't sound like a lot to me."
Reality Check:
- Not all CF patients are diagnosed at an early age
- Not all CF patients are treated at CFF-sanctioned care centers, of which there are about 118 around the nation
- CF patients are tracked in a registry...by the CFF...based on numbers they receive from the care centers
- If a CF patient is not treated at a CF care center, most likely they are not part of that census or registry
- My adult CF care center diagnoses 2-3 new adult patients per year...those people were not a part of the previous registry...that's 2-3 per year in SC that need to be added to that number
- How many more in each clinic? In each state?
Again, the numbers of patients being diagnosed has only dropped slightly and that is because of the small percentage of the population that can afford to have prenatal genetic screenings and who then choose whether or not to have the baby.
The patients haven't gone away....only the parents strong enough to take care of them. That's not a crime and I'm not disparaging them in any way (I nearly was one, remember). I just want to make sure that it is clear to the public that even though more families may be choosing not to give birth to people like me...people like me still exist and we still want to be cured...and we want the babies who are still being born this way to be cured...and we want to know that when it comes time for my daughter to think about giving birth she can put her focus on choosing names rather than on whether or not to abort due to the crappy genes she inherited from me.
The fight isn't over people.
