Struck by Lightning Twice
By Jackie Henry
Down syndrome, Cystic fibrosis and a little boy who is so much more then a dual diagnosis.
In May of 2007 the state of New Hampshire started mandatory Cystic Fibrosis screening on all newborns. Asa Daniel was born in June of 2007. Regardless of the 96-hour wait to find out that our precious angel would have an extra 21st chromosome, it was months before we learned about his Cystic fibrosis.
So you ask, what is Cystic fibrosis? Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
- Clogs the lungs and leads to life-threatening lung infections; and
- Obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
But guess what? Asa is for the most part healthy, why? What took 2 years to confirm is more complicated then an ant farm.
I, Asa’s Mommy had your typically prenatal blood work screening. Being 29 at the time I did not think there were too many things to be concerned with, and there wasn’t. The test came back negative for any of the over 1000 variations of defective CF gene tested for – most common mutation being Delta F508. Interesting fact, this gene was not discovered until 1989. In a normal occurrence if a defective gene was found in the mother, the father would be tested to see if he was a carrier of a defective CF gene as well. To have Cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent.
More than 10 million Americans are symptom less carriers of the defective CF gene who could pass CF onto their children.
Each time two carriers of the CF gene have a child, the chances are:
- 25% the child will have CF;
- 50% the child will carry the CF gene but not have CF; and
- 25% the child will not carry the gene and not have CF.
Back to the story, a few months after Asa was born his pediatrician approached us with a concern regarding CF from his newborn screen. He compared it to being struck by lightning twice – yah think? It could mean nothing but they wanted him to go for a sweat test at our larger local hospital that has a CF Clinic. So you ask, “What is a sweat test?” A sweat test measures the concentration of salt in a person’s sweat. A high salt level indicates CF, how is this performed? Like it sounds pretty much - my little guy’s right arm was hooked up to a machine for 5 minutes to stimulate sweating. They wrapped his arm with gauze and then a plastic bag, taping it off airtight. Then we wait, wait, and wait, for a half hour with an infant with a plastic bag on his arm - to sweat. Infants do not sweat that much so after much stress and aggravation Asa did not sweat enough for the test. We had to go back another day and try again, that time the results were inconclusive.
This sort of thing went on for 6 plus months, back and forth, ups and downs, and then finally a conclusion – halleluiah! Asa had a CF variation - huh? Now, we were really confused. How this all was explained to us, the CF gene mutation I have (Asa’s Mommy) is a very rare T something or other (it’s so complicated my mind blocks it out) and the CF gene mutation Asa’s Daddy has is your typical Delta F508. Now these two genes can co-exist but do not necessary play nice all the time. For the most part Asa is a healthy guy, but when he gets a cold he tends to be a little bit more phelgmy then other kids, it is also said that most kids with Down syndrome tend to be a little more phelgmy then typical due to their smaller airways. So, which do you blame it on?
Fast forward to 2 years old. Our local CF Clinic has a new director, a renowned National CF Specialist. We are called in for an appointment to meet the new Doc on the block. We answer the barrage of questions (like a million times before) the “Team” of doctors decides that Asa should be re-sweated – are you kidding me? Yup, same old story but double arms this time on a 2 year old! He did sweat and the Salt or Sodium Chloride level in his sweat this time was 64 on one arm and 63 on the other. The deciding factor of Cystic Fibrosis – 60… We have a diagnosis, a mild case… It’s just a diagnosis… If mandatory newborn screening never happened, we honestly would of never known.
Asa has had many more tests and scans looking for this or that and they haven’t found anything CF related or abnormal. He’s had a couple of icky things growing that they’ve treated with antibiotics and we carry on. We see the CF Team every 6 months for a check up and if he’s sick we just pay extra attention.
What can you do? Run away? Some days I wish I could run far and fast with my little guy tucked safe and sound under my arm (kind of like a sac of potatoes), but I know that wouldn’t do either of us any good. We do what we have to do and we live life. That’s all we can do… We just try to have as much fun as we can doing it!