Cystic Fibrosis Gene Preventing Pregnancy

No, I haven't fallen off the planet! Preparations for my son's birthday (he turns 2!) with family this coming Sunday took front & center! So, sometime after his birthday I'll return to the blog world!

For today, I wanted to share the good news about my friend who has been trying to get pregnant for two-and-a-half years. I wrote about the condition of her husband's azoospermia in my March 2009 post, Catch Up Time.

Due to their insurance not covering the cost of appointments to fertility specialists, they had to save money the past year before they could learn their options when it comes to conceiving. Last week they discovered that the Cystic Fibrosis gene is the cause of the azoospermia.

One in 31 people in the US carry the Cystic Fibrosis gene. These people are not affected by the disease and usually do not know that they are carriers.

I became familiar with this when I was pregnant because nowadays it is something that a pregnant woman can be tested for if she wishes (a saliva or blood test). If both the mother and father have the gene, then there is a 25% chance that their baby will be born with Cystic Fibrosis (something else that can be checked during pregnancy), a 50% chance the baby will be another silent carrier of the gene, and a 25% chance that the baby will not have the gene at all. With one parent as a carrier, the baby has a 50/50 chance of being a carrier, too (but will not have CF).

There are about 30,000 people in the US who have Cystic Fibrosis. This is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus. It is chronic, progressive, and is usually fatal. In general, children with CF live into their 20s and 30s.

It occurs mainly in Caucasians who have a northern European heredity, although it also occurs in African-Americans, Asian Americans, and Native Americans.

The abnormal transport system causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water. This causes the normal thin secretions in our lungs to become very thick and hard to remove. These thick secretions put the child with CF at risk for constant infection.

The high risk of infection in the respiratory system leads to damage in the lungs, lungs that do not work properly, and eventually death of the cells in the lungs.

Currently, there is no cure for CF. The gene that causes CF has been identified and there are hopes that this will lead to an increased understanding of the disease. Also being researched are different drug regimens to help stop CF.

Many women with CF have fertility difficulties due to thickened cervical mucus or malnutrition caused by CF. 98% of men with CF are infertile, as well as 64-85% of men who don't have CF but carry the gene. This is because the gene causes a condition called CBAVD, or congenital bilateral absence of the vas deferens. Having CBAVD is like being born with a vasectomy: you have sperm, but the pathway to release them is missing.

This brings me to the good news - in my post last year when I described azoospermia, there were three possibilities as to the cause. Had he had one where he wasn't producing any sperm, then even with the options to help, it still might not work. However, this was the best case scenerio for azoospermia: he does have adequate amount and good quality sperm (it just doesn't have anywhere to go) so they are going to extract it straight from the testicles and insert it into my friend (insemination). If this does not work then they will do invitro. But my friend was already checked out last year and found to be in top condition fertility-wise, so their doctor is optimistic that the insemination will work (which is cheaper and less invasive than invitro). First, though, she has to get tested to make sure she doesn't carry the CF gene.

The birth of a child with CF is often a total surprise to a family, since most of the time (in eight out of 10 families) there is no previous family history of CF. Many autosomal recessive conditions occur this way. Since both parents are healthy, they had no prior knowledge that they carried the gene, nor that they passed the gene to the pregnancy at the same time.

This is the case with my friend's husband. Nobody in his family is aware of anyone with CF. I pray that my friend is not a carrier because she really wants to be pregnant. . .what a hard decision make after years of trying to then find out you have a 50/50 chance of having a child with CF. Nobody wants to see their child die in their lifetime - and especially watch that child struggle in the meantime. I went to school with a family where two of the three kids had CF and they were often gone because they were in the hospital. One of the girls was a year ahead of me and we were in a class together. She coughed (hard) every other minute and I felt so bad for her - she was such a nice person - as was her brother who was a couple of years younger than me. . .I heard he died when he was 19 or 20. :(

If you would like to donate to help the Cystic Fibrosis Foundation or learn more about CF, go to their website at www.cff.org.