About a week after Lilly was born, we received a call from our pediatrician. It turns out that the newborn screening test that they perform on all babies after birth (the heel prick) came back abnormal for Lilly. For those of you who aren't familiar with the testing, the state requires all newborns to be tested after birth for metabolic disorders. One of the disorders that they test for is cystic fibrosis. Lilly's tests came back abnormal for cystic fibrosis.
Very quickly, cystic fibrosis is a genetic disorder. Apparently a large number of Caucasians that are of European descent carry the CF gene. If two carriers have children together, there is a 25 percent chance in every pregnancy of that child being born with CF, a 50 percent chance of a child being born a carrier of CF, and a 25 percent chance of a child being born neither a carrier or with the disease. We have no known history of CF, but because the gene is recessive, it is very common for people to not know that CF runs in the family. You can be tested prior to pregnancy and even during pregnancy, but I have not had any of these tests performed.
CF affects the lungs and digestive system. It basically results in thick mucous that creates chronic respiratory issues and digestive issues. The mucous coats the lungs and results in more pulmonary problems and over the years, chronic lung damage. The mucous also makes it difficult for people with the disease to digest needed nutrients, thus they have poor growth and digestive issues. Many years ago, people were not diagnosed until late childhood and the life expectancy was grade school. Now, with newborn screening and the discovery of the CF gene, people may be diagnosed at a very early age, before symptoms begin to manifest, and the treatments result in a much longer life expectancy. For more information on CF, I would direct anyone who is interested to the Cystic Fibrosis Foundation website, or www.cff.org. That has the most accurate and up-to-date information available.
Initially, Jeremy and I panicked upon receiving the test results. But after a few phone calls to our pediatrician, we were reassured that the newborn screening results often come back abnormal and that there are many reasons for such a result - a baby under stress, an underweight child, not enough blood, etc. So we let the moment of panic pass (or at least I did - Jeremy had a more difficult time) and followed the pediatrician's instructions. We had the test repeated and were told it could take many weeks for the results to come back, especially over the holidays. At the time, we decided not to tell anyone since we were told that the abnormal results were common. So we hunkered down and waited for the results.
Unfortunately, on December 23rd I received a call from a very concerned pediatrician. Turns out that the test returned abnormal again. I don't remember much about that phone call, other than we needed to see a pediatric pulmonologist for confirmation. I completely and utterly fell apart. I called Jeremy in hysterics and we went on the Internet to see what we could find out. What we discovered was terrifying and I spent a very long day in tears. But after talking to Aunt Shell (who was a complete lifesaver - she could stay calm and rational in the midst of a terrorist attack) we pulled it together and decided to fill in family and friends of the ordeal to garner some support to get through the holidays.
We made it through the holidays but I have to say it has not been easy. Jeremy and I have had many discussions on what we would do if the tests turned out positive - some have been very calm and rational and others have resulted in sleepless nights and many tears. This has all been complicated by Olivia starting out the month with a monstrous sinus infection and spending most of the month with a terrible bladder infection that resulted in an ER visit as well (we are not the most healthy household in the neighborhood and definitely the most sleep deprived). But with the support of family and our friends, we have been doing our best to deal with the possibility that Lilly could have the disease and even the possibility that Olivia could be afflicted as well.
After a long wait, we finally saw the pediatric pulmonologist today. If I have nothing else positive to say in this post or future posts, I will say this - Dr. Kanga and his team at the CF Clinic at the University of Kentucky are fabulous. They spent a very long morning with us explaining the disease, the tests that will be performed, and the future should Lilly have a positive diagnosis.
Dr. Kanga explained that the only way to diagnose CF is through a sweat test and genetic testing. The sweat test involves administering a medication to Lilly's leg and using electrodes to open her pores and stimulate sweat. The sweat is then tested to determine if she has abnormal chloride levels, an indicator of CF. Genetic testing involves taking a sample of blood and sending it to a lab to test for the over 2000 mutations of the CF gene. The sweat test results can be provided the same day. The genetic testing can take almost 6-8 weeks. The problem with the sweat test is collecting enough sweat to make a diagnosis. Unfortunately, we were unable to get enough sweat from Lilly to make a diagnosis. Thus, rather than having to wait until she is bigger and produces more sweat for a second sweat test, the genetic test was performed to make a more definitive diagnosis. If she has the most common CF gene, we will find out within the next few weeks. Otherwise, the results will not be in for 6-8 weeks - a very long and difficult wait.
Currently, we are praying for this nightmare to end. It may end with a negative result or it may end with finally knowing what we are dealing with - I don't know. But I do know that regardless of what happens, I feel confident we are in good hands with Dr. Kanga and the CF clinic at UK and we will manage with the support of family and friends, who have been so wonderful to us the past couple of weeks.
I refuse to focus too much on the negative, but don't want to get my hopes too high should things not come out as we hope. Along those lines, I want to end this post with some positives. First, the director at the lab said that she has performed over 500 sweat tests in the past year and only 10-15 have come back positive. This gives us hope. But if our prayers go unanswered, as many prayers often do, then I am reassured by Dr. Kanga that we can deal with this chronic disease. Dr. Kanga said that despite the information out there that the life expectancy is 37, he has been treating CF patients for over 25 years and he has many CF patients, who did not have the benefit of the treatments available today, who have lived well into their 50s, 60s, and 70s. He also assured us that many CF children lead very normal lifestyles, albeit slightly altered to deal with the disease. He believes that this disease is manageable and the advances are so great, that we may one day see a cure. It is nice to know that if we are facing a child with CF, and the implications that may have on our family, that we are going to be cared for by such knowledgeable and empathetic health care providers.
So all we can do now is just wait. I will post the results of the genetic testing when I receive them. I ask for your prayers and understanding as we go through this process. I want to thank everyone for their support - it has been invaluable to us, especially the support we have received from our parents, who have taken many a long night with Lilly to help us get some rest and regain our sanity, and Aunt Shell, who has listened through my hysterical tears and counseled me on how to deal with this scary news. So many more people have been there to help us through this, and I hope I have taken the time to say thank you, but if I have not, I hope you know how appreciative we are of the support. For the future, we ask that you keep us in your prayers.
