Over Christmas break we had our son genetically tested, specifically to look at chromosome 7 and gene Delta f508 to see if he is a carrier for cystic fibrosis (CF). The lab just called with the news that he does not have CF, but is a genetic carrier - as are both of his parents. The odds that he would be a carrier were 3 out of 4. Of course the impetus for the testing came from his sister's pulmonologist who has been treating her for CF since October, 2008 when she was finally correctly diagnosed.
Since the birth of our children, I would have to say the most significant event to seriously affect our family was Inga's diagnosis of CF at age 17. After years of a constant, larynx-ejecting-heavy-coughing, intermittent fevers and sapped energy, where her symptoms were just shrugged off by lesser pediatricians or she was treated for non-existent allergies; a simple sweat-chloride test confirmed she had CF. Neither of us, her parents, were aware of a family history of lung disorders or CF, but we now know that we each carry a the Delta f508 gene that inhibits proper sodium transport and which makes the odds at 1 out of 4 that a child of ours will be affected by CF.
Inga was admitted to the hospital for 6 days immediately after Christmas, 2008. While hospitalized she was "cleaned out" of infections in her lungs by a serious regimen of antibiotics and other drugs and her lung function was restored to normal. We are thankful that treatment for CF, even in her lifetime, has made great strides and there is legitimate hope that soon there will be a therapeutic genetic cure for cystic fibrosis. In the mean time, Inga spends time with a regimen of treatments and faithful exercise that enables her to lead a very healthy and normal life, and is no doubt now the healthiest one among us.
One year after finally getting the proper diagnosis which enabled her to then greatly improve and maintain her health after years of mild suffering, Inga wrote the following observations:
Living with Cystic Fibrosis
Things I have Learned
• God’s love is awesome. When you consider what He’s done for us, nothing seems quite as hard as it did
• Attitude makes a difference. Always.• Never underestimate the speed of news around a church congregation
• So many people in so many places have been working on my behalf long before I ever realized
• I have only begun to see the boundless generosity of others
• There is such a thing a happy coincidence (Divine Intervention?) – How else would you explain randomly drawing Cystic Fibrosis as a report assignment for a freshman biology project on genetic disease?
• Sometimes, some songs were written for you at that moment. Embrace it. Take comfort in a melody and the fact that someone at some point was in your position
• Knowing that I have the most ridiculously mild case of CF makes me angry and sad for all of those with even a marginally more serious case. That being said, I am incredibly blessed.
• Taking a day off for health is perfectly acceptable
• People take breathing for granted. Stop that!
• Smoking is personally offensive
• The phrase “I’ll sleep on it” is underrated. Sleep makes everything better
• Time is a precious commodity. Especially when you have two hours less per day because of treatments
• People don’t enjoy anything enough. One must be like a child to enter the kingdom of heaven, right? For starters, why not be full of joy like one?
• Doctors are people too. Forgive them of their mistakes, even when it’s your own health they mess up (Note: There are definite exceptions to this rule)
• Be nice to everyone in a hospital. They can make the experience comfortable and relaxing or stressful and painful
• Genetic testing is a miracle. Treat it as such.
• There are good days and bad days. Take them both in stride, it is impossible to have ups without downs
• True friends will laugh with you about your condition and cry with you about it in the same hour
• True friends are rare, but they understand the meaning of the word unconditional
• Contemplating one’s own mortality can be liberating
• Life is beautiful!
Inga
There is a story of a young girl who was diagnosed with CF, and when the doctors told her she had a sickness called cystic fibrosis, she heard it as she had a sickness call "sixty-five roses". Inga has taken on the emblem of "65-Roses"; she has designed T-shirts with stenciled 65-Roses to wear as she and friends participate in fund-raising walks for the CF Foundation, and Inga is considering a career in Non-profit Management with an emphasis on those organizations which advocate for health such as the CF Foundation.
No comments:
Post a Comment