Diagnosis confirmed

We have officially received the news that Kelsie does in fact have Cystic Fibrosis.  A sweat chloride test was done that revealed a positive result for CF, so this confirms the DNA testing that was done following the newborn screening test. I don't even know where to start in terms of explaining where we go from here. The amount of information we received was quite overwhelming. Even though I'm a nurse and know quite a bit about CF, being a mommy to a baby with CF gives it a whole new meaning and learning how to manage it daily is something not even a medical background can prepare you for.

We had a full day at UNC on Friday where we met with a number of people from various health care disciplines. Unrelated to the CF, we started the day with a visit with Orthopedics to followup on her hip dysplasia. He readjusted her brace and told us that the hips are currently in place which is good news but as we were told before, she will need to continue to wear the brace until she is at least 12 weeks of age to ensure the structures around the joint tighten up.  After the ortho appointment, we were actually able to come home and rest before returning for a long day at the hospital. (Living just 10 min from UNC is definitely a blessing.) Before lunch, we returned to UNC where we got started with the sweat test. They prepared us that while the sweat test shouldn't be painful, Kelsie would likely scream throughout the test because her arm would have to be held down in an extended position for 5 minutes on each side. However, I was able to lay my face on hers and talk to her and kept her calm throughout the test which made it easier on us. The tech commented on how unusually well she handled it but I wasn't surprised. Kelsie has already proven to be a very tough cookie (and getting to snuggle with her mommy no doubt made it easier to tolerate!) After the sweat test was over, we made our way to the children's clinic where we would spend the next 4 hours learning more about Kelsie's diagnosis.  Ironically, I used to work in this clinic and know a lot of the staff so it felt very odd being on the other side of the fence. We were treated so well and everyone went above and beyond to make sure we were comfortable!

As I mentioned before, we met with a number of people from the team that will collectively manage Kelsie's illness.  This included the CF nurse, Pulmonary doctors, nutritionist, social worker, and physical therapist.  Each person spent a considerable amount of time with us going over information related to that particular discipline. The doctor and nurse emphasized that CF is a chronic illness, not a terminal illness.  And that while the current life expectancy is 38, that age is expected to increase dramatically in the coming years with the thousands of new therapies and treatments available.  Their expectations for prognosis were both optimistic and uncertain. They were very positive explaining how they expect Kelsie to live a long, healthy, and vibrant life full of normalcy and opportunity.  They expect her to have a normal infancy and childhood, going to playdates, sleepovers, birthday parties, play on high school sports teams, go to college, get married and do anything else she wants to do. They also explained that she will no doubt get sick from time to time just like anyone else. They do not want us to treat her any differently or keep her in a bubble, just make sure that everyone washes their hands well and try to keep her away from any sick contacts.  If she does get sick with a cold, for example, we just have to monitor her more closely and increase our home therapies to help her lungs get rid of the mucous. The reason for this is that in people with CF, the mucous in the lungs gets thick and can pool inside causing bacteria to grow more readily. It is important that we do chest PT daily (basically doing purposeful pats on her back) to help her lungs clear that mucous on a daily basis, even when she is not sick.

There is a wide spectrum of symptom severity in patients with CF and at this point, there is no way to know how severe of a case she will have.  The goal is to keep her as healthy as we can and help her achieve the best nutrition. When she is older, exercise will be extremely important as well.  We came home with a list of meds and therapies to start now. Research has shown that the earlier you start preventive therapy, the better the outcome. So even though she is healthy right now, we still have a daily regimen to help her body maintain the best nutrition and lung function possible.

As you can imagine, all of this has been so overwhelming and difficult to process. Some days I feel strong and sure as ever that we can do this and that she is going to be just fine. But others, I just breakdown feeling consumed by the magnitude of this illness and the diligence it is going to take on our part as parents to try to keep her healthy. I try not to let that get me down, though, because the reality is we still have our beautiful baby girl who is happy and healthy and doing all the normal baby things.  So I don't want to let any of this rob us of the joy of this precious newborn period.  She is such a great baby and makes us smile countless times in a day and I just love being her mom! We really do appreciate everyone's prayers and thank you for continuing to lift us up. We trust that, as with the other trials we have faced, God must have a purpose and a plan for all of this and He will give us the strength to get through it. I will do my best to keep this blog updated both as an outlet for myself, as well as to keep family and friends informed on how things are going. Thanks so much for all of your prayers and support!