If you are like me, every year at Thanksgiving you consider some things to be thankful for, but some years produce greater blessings than others.
This Thanksgiving, our family is grateful for the blessing of a lifetime. We are thankful for new drug called Trikafta which promises to save our daughter’s life.
As many readers know, our daughter, Kristina, was born with a fatal inherited disorder, cystic fibrosis (CF). According to the Cystic Fibrosis Foundation, more than 30,000 Americans live with CF (more than 70,000 worldwide).
Approximately 1,000 new cases are diagnosed each year in the U.S.
To be afflicted with the disease you must inherit a defective gene from each of your parents. There are approximately 10 million Americans who are symptomless carriers of the defective gene.
On the worst day of my life, Kristina was diagnosed with CF at the age of six weeks. At the time we were told she would be lucky to see her 15th birthday. Over the years, we saw dozens of families lose their children to CF.
Back then, in 1986, CF medical research had hit several roadblocks and much of the charitable funding for medical research was diverted to AIDS-related causes. At that time, the Cystic Fibrosis Foundation began to coordinate how funding was spent, avoiding duplicative research and holding researchers accountable for working collaboratively.
In 1989, the defective gene was discovered, as was the exact nature of the disease.
When we consume salt, our body uses the resulting chloride ions in many ways. Chloride ions must freely pass through the cell membranes of tissue that secretes mucous for that tissue to function properly. The CF gene contains a defective protein, which inhibits the transfer of chloride ions across cell membranes.
Consequently, digestive tissue and respiratory tissue become clogged and fail to function properly. Those organs ultimately fail.
Once this discovery was made, it was only a matter of time to find a drug that would operate at the cellular level, inducing a proper chloride transfer.
It sounds easy, but it took 25 years.
About a quarter-century ago, the Cystic Fibrosis Foundation started conducting its Great Strides Walks to raise money for CF medical research. The foundation raised hundreds of millions of dollars that directly funded drugs like Trikafta.
Several years ago, Kristina participated in a clinical trial for a drug that was somewhat helpful, but was abandoned for commercial reasons.
Two years ago, she was in a three-week clinical trial for a new drug that promoted the transfer of chloride ions across cellular membranes. We picked up the drug at Children’s Hospital where the first dose was administered.
On the way home, Kristina excitedly commented that something wonderful was happening. Within days, her chronic lung congestion disappeared.
Unfortunately, after the three-week trial concluded, her condition returned and she required hospitalization.
In 2018, the final clinical trial for the drug was announced. There would only be 180 participants. Through nothing short of a miracle, Kristina found an opening in the trial.
She began participation in the trial in summer 2018. The drug did not help Kristina much; she probably received the placebo.
Last January, we were concerned that she might not have the stamina to go through her April wedding ceremony.
The trial concluded in February. Upon its conclusion, she got the real thing — a drug named Trikafta. Her condition improved within a few days. By the time of her April wedding she was full of energy. Since then, her condition has continued to improve.
On Oct. 22, the FDA approved Trikafta and it should be commercially available for CF patients by year end. Trikafta alters the defective protein, but unfortunately about 10% of those with CF do not have a protein to alter, so they are still looking for a cure.
Another issue is that the drug is estimated to cost $311,000 annually and there is some doubt about whether all medical insurance plans will cover the drug.
Although her tissue that CF destroyed will not regenerate, Kristina’s disease has been stopped in its tracks. Instead of anticipating a heart/lung transplant and a limited life expectancy, Trikafta gives her an opportunity to live a normal life.
For many years, our family participated in the Cystic Fibrosis Foundation’s San Fernando Valley Great Strides walks, which were not very successful. In 2004, Kristina suggested to the foundation that the venue be moved to Valencia, where the Valencia Great Strides Walk became the second largest on the West Coast.
Over the years, a seven-figure amount was raised locally. That would not have been possible without the sustained generous support of the community. I know many Signal readers who donated over the years. Our family is eternally grateful for your support. Your money was well-spent!
We will be sure to express our gratitude in a special Thanksgiving celebration this year!
Jim de Bree is a Valencia resident.