From the Birmingham [Alabama] News,

Starting this week, all newborns in Alabama will be tested for cystic fibrosis, and health officials are hoping that early identification will lead to early treatment and better outcomes for children. The test for the genetic disorder had been in the works for some time, but was held up until the state assured that it had adequate capacity to provide testing in its cystic fibrosis centers in Birmingham and Mobile.

The screening should identify about 250 to 300 babies in the state annually who are at least carriers of the disease. Doctors expect further testing at one of the cystic fibrosis centers to find about 25 to 30 new cases of the disease each year. Parents of babies who are carriers but do not have the disease will be consulted about genetic testing for future pregnancies.

From the Windsor [Ontario] Star:

All babies born in Ontario will now be screened for CF.

The Canadian Cystic Fibrosis Foundation applauded the move, saying diagnosing and treating CF before symptoms emerge can improve life expectancy for people with CF and help them live more productive lives.

Ontario is the second Canadian province, after Alberta, to offer CF screening for newborns. British Columbia and Saskatchewan are also looking into making the screening available.

From the Baltimore Sun:

A generation ago, few people with cystic fibrosis lived past their teens. Today, people like Jeff Davis (during a health check at left with his wife and son) are reaching milestones doctors never thought possible.

“We now expect children to live into adulthood and to be healthy as well,” said Dr. Peter Mogaysal, director of the cystic fibrosis center at the Johns Hopkins Children’s Center.

… A steady progression of drugs, medical devices and improvements in disease management has made it possible for patients not only to survive longer, but also to attend college, have careers and raise families. By the early 1980s, median survival had risen to 21 years. Today, it is 37.

From the Raleigh [NC] News & Observer and WTVD, the ABC affiliate in Raleigh-Durham, extended features on Tricia Lawrenson and her husband Nathan. Tricia has cystic fibrosis; the couple are evangelical Christians. Their story is framed as a journey of religious faith and triumph over adversity. Tricia had been scheduled to get a double lung transplant when she learned she was pregnant. Doctors took her off the transplant list and advised that the pregnancy would jeopardize her chances for survival; some counseled abortion, which the couple declined.

As committed evangelicals, the Lawrensons believe that life begins at conception and abortion is akin to murder. More important, they believed God wanted this pregnancy and helped bring it about.

“Our choice simply came down to whether or not we were seriously willing to trust God,” Nathan wrote later on his blog “Confessions of a CF Husband.” “And really, what else did we have to hang on to at that point?”

(more…)

From ABC News:

College-age friends Kayla Small and Maggie Marcus are roommates, and they both have cystic fibrosis. Doctors say that CF patients should stay at least three feet apart at all times, to avoid sharing bacteria that could hasten their decline.

Yet Small, a published writer and a Columbia University graduate, subscribes to a personal philosophy that values intimacy with others who share her experience above all else — even if it could mean she will get sicker faster.

(more…)

From the Tri-City (Washington) Herald:

A bill making its way through Congress brings a rare chance for both sides of the abortion debate to come together in a humane way.

The bill, backed by Sens. Sam Brownback, R-Kan., and Ted Kennedy, D-Mass., would create a national registry for families willing to adopt babies born with Down syndrome, spina bifida, cystic fibrosis or dwarfism. It would cost about $5 million.

… this is an effort well worth the time and money it will take to set it up.

… A national registry would give pregnant women who might not carry their babies to term another option: A warm and accepting home with parents who are willing to accept the extra responsibilities such children represent.

By Emily Bazelon in O the Oprah magazine:

(Newstands only; article not available on the magazine’s website.)

After her son was diagnosed with Asperger’s syndrome, Gwenyth Jackaway went on the Internet in search of other women who had used the same anonymous sperm donor. She has found seven other mothers. Among them they have eleven children and one on the way. Three have diagnoses on the autism spectrum, a rate that is about 45 times higher than the chances for the general population. Bazelon spends time with the women and documents their lives.

Is the bank that sold Donor X’s sperm at fault for failing to catch the genetic defect he appears to carry? (None of the mothers of affected children has family members with autism.) No history of the disorder showed up on the three-generation medical profile that Donor X filled out for the California Cryobank. The bank conducts DNA testing for conditions like Tay-Sachs, cystic fibrosis and sickle-cell anemia, which are primarily caused by a single mutant gene.

Autism is a different story. The disorder clearly has a hereditary component (if one identical twin has it, the odds the other will, too, are between 60 and 90 percent), “but there is not a genetic test for autism because we have not yet identified enough genes that might cause it,” says Peter Szatmari, MD, a veteran autism researcher and psychiatry professor at McMaster University in Hamilton, Ontario.

Writing in the New York Times’ Modern Love column, Kayla Rachlin Small describes the joy and anguish she felt while pursuing an intimate relationship with a man who has cystic fibrosis, a condition she shares. An excerpt:

I didn’t throw myself at Thomas in hopes of unconditional acceptance; I did it out of defiance. There was the expectation that we would choose safety over intimacy. There was the probability that had we [been] born a few years earlier, neither of us would have grown old enough to have sex. And then the ultimate snub: the possibility of reproduction.

There we were, manifestations of what people fear for their babies. If we were to conceive, our child would without question have cystic fibrosis. At times, my ambivalence about such an outcome was overcome by my longing for that baby. I wanted to provoke whispers of “How tragic” and “They should have known better” — then prove those judgments wrong.

I envisioned our child, head held proudly, endowed with a sense of O.K.-ness that our own parents hadn’t been able to give us. The three of us were all right, disease included.

So when Thomas climbed off my bed and reached for the packet in his coat pocket, I told him no, we didn’t need that.