Diagnosis Day - How It All Started
On May 17, 2013, we received a call from the pediatrician's office telling us that Baby Ben's newborn screening test results were abnormal. We went in to talk with them, and they told us he tested positive for cystic fibrosis. They reassured us that screening tests often have a high rate of false positive results and helped set us up for a diagnostic test at Loma Linda. We were scared and worried, but we felt good about our chances. Ben showed two different genetic mutations consistent with CF. Smokey and I had no idea whether we were carriers (it's a recessive gene, so both parents have to be carriers in order for a child to have the disease), and neither of our families has any known instance of CF. We set up the appointment for May 23.
We spent the entire day at the CF clinic at Loma Linda. We spoke with a nurse, a doctor, a respiratory therapist, and a social worker. Smokey and I had our blood drawn. Ben was examined and given a sweat test (the diagnostic test used to identify CF). Before the end of the day, the doctor gave us the news: our little Ben has cystic fibrosis.
What we didn't know, because the pediatrician's office are not genetic experts, is that for him to have two genes would greatly increase his odds of having the disease. With two gene mutations, there was only a very small possibility that they could both be on the same chromosome, which would have made him just a carrier. The sweat test results came back within a half hour. We won't get Smokey's and my blood test results for a couple of weeks, but they don't really matter at this point.
Cystic fibrosis causes mucus secretions in the lungs, making people with the disease more prone to respiratory illness and sometimes causing lung damage. Many people with CF also have pancreas issues that hinder the body's use of enzymes to break down food and help with nutrient absorption. We are awaiting lab results to tell us more about whether Ben is pancreas sufficient or pancreas insufficient. There are varying levels of CF--some patients have a milder case and don't exhibit all of the effects, while others need lung transplants because of damage to their lungs over time. As of right now, there is no cure for CF, but management of the disease has come a long way. Decades ago, kids diagnosed with CF didn't often see their 2nd birthdays, and now CF patients are living much longer. However, many of them still don't make it past their 30's or 40's.
Obviously we are devastated. The positive in all this is that he is a very healthy little boy who is gaining weight like a champion. At his appointment last week, he weighed 12 lbs 7 oz and was 23 inches long already. This is good news, because it most likely means his pancreas is functioning correctly.
We were sent home with a very intimidating amount of stuff. We have an inhaler/mask with albuterol; he needs treatments of that twice a day. We have a contraption that we have to use to do percussive physiotherapy on his chest and back for 20 minutes after each breathing treatment. We have vitamins that we have to give every day. We have enzymes that we have to give before every feeding, which we have to give in a little bit of applesauce so they don't dissolve before they reach his stomach, and I have to do a sweep of his mouth before he eats to make sure they are gone before I feed him, because if they get on his face or my skin, they will burn. Once we have the results from the stool sample, we will hopefully find out that he is absorbing everything fine on his own, in which case we can discontinue the vitamins and enzymes.
We will need to visit Loma Linda once a month for follow-up appointments. We now officially qualify for the Navy's Exceptional Family Member Services, which means we may not be allowed to stay at China Lake any longer. They like members of the EFM group to be closer to a facility that can serve their needs.
There are a lot of unknowns in our life right now. We have a lot of questions and fears and concerns. But what we do know is that our little angel son is going to have some challenges ahead of him in life. He must be something really special, and though I am intimidated by our new future, I look forward to finding out just how much sunshine he is going to continue to bring to our lives.
