After trying for 3 years to start our family, Dominic came into this world June 11, 2003 at 7:57pm. He was a happy, healthy baby. His 1st year was pretty uneventful. He hit all his milestones way ahead of schedule. We were so amazed by our little miracle baby. At 15 months Dominic got a "cold". It was one he just couldn't seem to shake. It was accompanied by a horrific cough and impacted sinuses. He was given several antibiotics, he would get somewhat better but after finishing the antibiotic we would be right back where we started. We were sent to an allergist, who was sure we were dealing with allergies, well he tested and you guessed it no allergies. Then we were sent to our first pulmonologist who based on family history diagnosed Dominic as having asthma. It seemed to fit at first, after a course of steroids we sailed through the next couple of months.
But then it began all over again, except this time the more I said something is wrong the more this doctor wrote prescriptions. Eventually Dominic was on high doses of all his meds. None which was helping. In the meantime we again were battling many sinus infections, he was on one antibiotic after another and constant rounds of steroids. The last straw with this pulmonologist was when I asked about the possibility of consulting an ENT and he flew off the handle. Therefore I fired him.
Which brings us to pulmonologist #2, at this time Dominic was almost 3. The new doctor was wonderful! He listened, and agreed more was going on than typical asthma. He recommended an ENT.
Thus began our journey to diagnosis. At our first visit with this doctor he mentioned a sweat test, and I brushed it off. My child certainly did not have Cystic Fibrosis, a progressively fatal genetic disorder. I was screened during pregnancy, our state has done newborn screening since 2000. There was no way in my mind my child had CF. We tested for other things, adjusted meds, yet Dominic still suffered. He coughed all the time, struggled with one sinus infection after another and after numerous courses of antibiotics and steroids this wonderful doctor said "Enough!"
He scheduled the sweat test and told us we were going. Reluctantly we went. I expected it to be a complete waste of time. That afternoon when the nurse called and told us it was positive, I nearly fell off my chair. It was not borderline, it was completely positive. We were told to repeat the test and that blood work for genetics was to be drawn. The wait began.
Of course the next sweat test was positive, however his genetic analysis was ambiguous. Dominic did have 2 mutations, however 1 was a polymorphism and the other a variant both had been believed to be non-disease causing. They were however causing disease, especially in the sinuses of my sweet little boy.
After consulting with a geneticist, we were referred to the Central Connecticut Cystic Fibrosis Center at Connecticut Children's Medical Center. Here we found a perfect fit. Dominic has thrived under their care. We had lots of rough patches, but through it all we have had tremendous support from our care team as well as our wonderful friends and family.
Dominic is now an energetic 7yr old with a love of learning. He still continues to amaze us! Dominic may have CF but it certainly doesn't have him. Despite all he has gone through, as well as all the daily treatments and medications he is a happy boy and takes all that's thrown at him in stride.
