Skip to main content

Finding the gene

"Finding the gene [the CF gene] was the result of enlightened leadership, incredibly dedicated scientists, technology and yes--I smiled, a vast army of creative and committed fundraisers. Terry and I, our family and friends could be proud of the fact that we had played a part in the search through six billion base pairs that make up our genes to find the one that caused cystic fibrosis. It had taken in excess of $60 million but we had done it. We had helped raise the funds that had enabled researchers to identify this single elusive piece of DNA--250,000 base pairs long. The scientists, fueled on by All Sports Balls and other similar events around the United States, had discovered that three missing base pairs caused the gene to create a defective protein that resulted in cystic fibrosis. Together we had found the three in six billion" (emphasis mine) --Don Detrich in The Spirit of Lo

I honestly can't imagine the rush of hope people affected by cystic fibrosis felt when Francis Collins and other scientists found the gene. The gene, that caused many infants who couldn't even walk to cough like an elderly person with emphysema. The gene, that caused malnutrition and frailty, hindering people from growing as they should. The gene, that caused patients and their families expenses too numerous to count, financially, physically, and emotionally.

Finding the CF gene was truly a miracle. I am unable to fully comprehend the hours of research and studying that must have occurred. With six billion base pairs in a human, how incredible is it that scientists found the culprit of CF? Every time I read Don Detrich's account of the day he found out about Francis Collins' finding, I get chills up and down. I can only give praise and glory to God for the miracle of science. God has enabled scientists with the ability to see inside our very beings, to understand a little bit more about how the human body works. He has privileged us with this knowledge--how cool is that?? I am sure the CF community danced with joy when the news was released.

Although many people hoped that a cure would come right after the discovery of the gene, twenty three years later we are still working diligently to find a cure. As the CF foundation's motto states, we will buy the science needed to cure this disease. We "bought" the science needed to find the gene, so to speak, and we will "buy" the research needed to find a cure. I have no doubt about that! Even though the CF population is relatively small, our spirit is stronger than any other. We will fight this disease, together, until it is defeated!

Comments

Popular posts from this blog

CF Walk Letter 2018

Dear friends and family,
I hope this letter finds you doing well! My life looks pretty different this year from last year. In May, I graduated with my master’s in communication sciences and disorders. I started working as a speech-language pathologist in June for a company called SpeechCare, and in July, Eric and I got married. That was a very busy couple months! I love my job; I work mainly with adults with intellectual and/or social disabilities to help improve their communication skills. My clients bring me so much joy! I love being able to help them communicate better with others. Eric and I are also loving being married. Living with Cystic Fibrosis has taught us to never take the time we’re given for granted, and we are making sure we soak up all the moments we’re given and go on plenty of fun adventures. 
My health has been a bit of a struggle in the past few years. I had a round of IV antibiotics in May and then again in September and January. I will be starting IVs within the ne…

The day that was yesterday

Wow. What a day yesterday was. Here’s what happened:
At around 4:45, my hand became numb and tingly. Because I’m a knowledgeable SLP, my first thought was “oh my gosh I’m having a stroke”. Although the numbness was my first (and only) symptom, it was so bizarre how my hand just all of a sudden lost feeling in it. About 5-7 minutes into the numbness sensation, it started traveling up my arm and reached about midway up my forearm. Due to my history of a PE and being on Amicar (a blood clotter) right now because of a lung bleed, pretty much the only option was to go to the ER. I called CF clinic, and they confirmed that I should head over there. The ER is the most disgusting place, especially in the middle of cold and flu season. They also apparently have never heard of CF protocol because I had to demand to be put back in a room immediately and for everyone who came in my room to be gowned, masked, and gloved. From the beginning to the end of the 5 hour ER stay, it was pretty disastrous.…

Thankful in the hard times

With a disease like cystic fibrosis, it can be easy to get lost in all the pain, fear, and frustrations and lose sight of what we have to be thankful for. This year has been rough. I started the year with a blood clot, quickly followed by increasing worry about the state of health care in America, all while losing a significant amount of lung function and dealing with way too many lung bleeds. However, no matter how hard the year, I believe it’s always important to reflect on the many blessings we have been given. It’s too easy to wallow in self-pity and pain otherwise. So this post is dedicated to just that—thanking God for all He has given me. 
I’m thankful for... My new husband ❤️. As I’ve said before, many CFers wonder if they will ever find someone who will choose to love them day in and day out with all the stresses that come with cystic fibrosis. Being the spouse of someone with CF is not for the weak or faint of heart. My husband has taken a crash course in medical terms, health…