An Open Letter

Dear Family and Friends,

The last two weeks or so have been difficult and emotional ones in our home. Yes, I know the arrival of any newborn is filled with all kinds of emotions--excitement, stress, and so much more. Finn's arrival has brought all of those normal emotions and few extra ones as well.

I remember when Kai was born that my first thought was "He's so little!". When I first saw Finn my first thought was "Oh no, is he OK??". He was just so purple and little. Something seemed wrong. Within an hour he was taken away for chest x-rays and subsequently admitted to the NICU for aspirating meconium. While he was able to seemingly quickly recover, there have been other medical difficulties. Most importantly, he has struggled to gain weight which has resulted in a lot of doctor visits.

I was at the point two weeks ago that I was planning on asking the doctor to look for reasons other than lactation, when the doctor called me. On the morning of Thursday the 12th I received a call from our pediatrician's office. On the other end of the line was the PA/lactation consultant that we had been seeing. She told me that Finn's newborn screening had come back with a marker on the Cystic Fibrosis test and that his blood had been further analyzed. At that point, they were requesting that we go to Children's Hospital in Denver for further testing as soon as possible. It took literally dozens of phone calls to our insurance company, doctor's office, and Children's Hospital to finally make an appointment for Wednesday the 18th. In the meantime, Reid and I read a bit about Cystic Fibrosis and decided not to worry about it until we needed to. We weren't living in denial, just trying not to work ourselves up over it.

Our appointment on the 18th was at 8am at the outpatient lab. We were told the test took about an hour and so we both went and took Kai with us. We arrived right on time and Finn was quickly set up for his sweat test. The test involves placing electrodes with sweat stimulants on his arms or legs, leaving them for 5 minutes, and then wrapping him up in as many blankets as we could so that he would sweat. He wore the sweat collection devices for 30 minutes while we went to get breakfast at the cafeteria. After the half hour we unwrapped him to find that Finn does not sweat!!! Only a small sample was collected. We were nicely told that the sample was not large enough to run the full battery of tests they needed. A call was placed to our pediatric office and we were told to repeat the test. The lab wanted to wait until noon.

For the next three hours, we wandered around the hospital trying to find things to interest Kai. We also went to the cafeteria and had a small lunch. We finally headed back to the lab to repeat the test. Once again, after the time was up there was no sweat! Another call was placed in which our pediatrician told us to go home for the day and to come back the next day to repeat the test. We were exhausted and slightly frustrated.

After about a half an hour at home, I decided to place a call to the doctor to see if I could get another answer. I did not want to go back to Denver with Kai in tow for another all day adventure. While on the phone, our call waiting beeped and I saw it was Children's Hospital. I hung up on the doctor (yes, I really did!) and switched over. It was the pulmonology nurse saying she had results. What?? Apparently the first sample was enough to run only one test and they had run the one test they needed to diagnose Cystic Fibrosis. The results were enough to lead them to a full diagnosis of Cystic Fibrosis (CF).

I'm sure you can all imagine how hard that news was for us. I don't think I need to explain to any parent the desire for the best for all of your children and how hard it would be to accept a diagnosis of a rare genetic disease that will cause medical problems and a shortened life expectancy. To say we were devastated would be accurate. The nurse went on to tell us that she had made an appointment with a pulmonologist (the CF doctor) for the next day for Finn at 2pm. We were relatively silent while she explained a couple of things to us (I don't remember what they were) and then we hung up.

The rest of the day is a bit of a fog. The only thing I clearly remember is a knock on the door during dinner. It was our hometeacher who had randomly dropped by to drop something off. I invited him in and we explained the situation. He quickly volunteered to take some time off of work the next day and sit with Kai while we went to Children's. It was such a blessing and I was so grateful to the Lord for sending some help in that moment.

The appointment the next day was a good one. I was surprised at how many people came into the room to meet us and Finn. We met two nurses, three doctors (one was a resident), and a social worker who were all there to lend support and help Finn. We were in that room for 2 and half hours discussing what Cystic Fibrosis is, how it effects people, how you get it, Finn's current treatment, and future prospects for Finn. As CF is something that most of us don't understand, here are some important points that I'd like to share with you.

What is Cystic Fibrosis?

Cystic Fibrosis (also called CF) is a rare genetic disease that affects the normal movement of salt (sodium chloride) and water into and out of certain cells, including those that line the lungs and pancreas. This results in thick, sticky mucus and other secretions that can seriously impede breathing and digestive functions. Only 1,000 babies each year are diagnosed with CF and there are only 30,000 individuals in the US living with CF. CF is predominanatly a caucasian disease, and typically seems to affect individuals with heritage in Northern and Western Europe. Only 70,000 people worldwide are living with CF.

How do you get CF?

CF is passed to a child by two carrier parents. CF is a recessive gene, therefore an individual needs two recessive genes in order to have CF. About 1 in 29 people in the US are carriers of CF and most have no idea. According to the UVA medical website, about 8 out of 10 new cases of CF are diagnosed in individuals where there is no known family history. Two carriers who have children have a one in four chance of having a child with CF.

How does CF affect the body?

Though CF affects many different parts of the body there are two main areas of concern -- the pancreas and the lungs.

• Those with CF have difficulty gaining weight and growing as the thickened digestive fluid blocks the pancreas ducts leading from the pancreas to the small intestines. This prohibits the enzymes produced by the pancreas from reaching the intestines and digesting fats and proteins. As the food that the person consumes is not digested, it passes quickly through the body and is not absorbed. (This is why I felt like I was changing way too many dirty diapers with Finn.) As the food is not absorbed, neither are the fat-soluble vitamins (Vitamins A, D, E, and K).
• The thickened mucus of a person with CF clogs the lungs, causing breathing problems. The build-up of mucus in the lungs also provides a breeding ground for bacteria to grow. This leads to frequent lung infections, which eventually damage the lungs and contribute to early death.

How was Finn diagnosed?

The newborn screening completed at the hospital came back with high levels of IRT (over 200). Next, they looked at his second newborn screening completed around 2 weeks of age. His IRT levels were even slightly higher at that point. From there we were told that they analyzed the blood sample and were able to locate one "defective" gene for CF. At that point, we were called (we had no idea all of this had occurred) and asked to come in for the sweat test. Normal chloride levels are about 40, 50 is borderline, and those with 60 are typically diagnosed with CF, So, when Finn's chloride levels came in over 100 from his sweat test, he was diagnosed with CF.

How are we treating Finn's CF?

Finn has been fortunate to not have had any respiratory issues yet. As Finn's CF so far is only manifesting itself in his pancreas, we have needed to put him on a few different medications.

• First are the enzymes. Since his pancreatic enzymes are not reaching his intestines, we have to give them to him. The enzymes come in the form of a capsule. Since he is unable to take pills, we are feeding them to him with a bit of applesauce. We break open the capsule over the applesauce and feed it to him before every feeding he has.

• Second, he needs his fat-soluble vitamins. We give these to him after he has had his enzymes so that his body can absorb it. They are nasty looking and smelling, poor kid. I've been mixing them into his milk and he seems to take it a bit better.
• Third, he needs salt. People with CF sweat out more salt than the average person (hence the diagnosis after the sweat test). In order for his body to have the salt it needs, we have to give him extra. Salted milk, yumm.
• Finally, Finn still needs to take his Zantac for reflux. The CF doctor says it's a good idea to continue treating him with Zantac as it will help to quell the stomach acids and make it easier for his enzymes to be absorbed.

Finn's medication--I call it his morning/evening

cocktail. It consists of salt, zantac, vitamins and

about an ounce and half of milk to help wash it all down.

What does the future hold?

This has to be the hardest question to answer. CF is a progressive disease and can vary in severity. It's hard to know how any given individual will respond to CF until it progresses. Denver Children's Hospital is ranked number 2 in the country for pulmonary treatment, for which we are grateful. They treat everything aggressively in order to give their patients the best possible prognosis. Odds are that there will be hospital stays and strong antibiotics in our future. We don't know when we'll need them.

They say that people with CF can live a relatively normal life. Sports are even recommended as they are good for the lungs. (Reid has a friend of a friend with CF that finished 30th out of 600 in the Colorado's Leadville 100 mile Ultramarathon!). They can go to school, go to college, get married, and with today's advances, even have a family. The current life expectancy for an individual with CF is 35.

For now, Finn has to see his CF doctor once a month until he's 6 months old. At that time we go to visits once every two months. When he turns one year old, we will have visits once every three months for the rest of his life.

Other than CF, Finn is a normal baby and we can expect the same things from him that we can from any other baby. One of the reasons we wanted to go private is that Finn may choose at some time in the future not to share his diagnosis with everyone--and that needs to be his decision. Most people don't understand CF and we do not want him to be treated any differently or become an object of teasing among his peers. Because of his disease, he will always have trouble gaining weight and growing (great....just what one of my kids needs to hear!). Once he starts eating solids, he will be able to enjoy a high fat, high calorie, high salt diet. (Can I throw in another "great, just what Kai needs to see!" here?) Of course, all of that will have to be eaten with the enzymes and vitamins, which he will be taking his whole life.

We've received a lot of support in the last week as we've learned about CF and Finn's future and we're very grateful for that. The prayers and thoughts are greatly appreciated as we continue to fight this battle. I admit I'm still having a difficult time with the diagnosis, but I have noticed that day by day, it's getting easier to accept. (though I don't think it'll ever be easy) We still have a lot more questions than we have answers, but we want you all to know that you are welcome to ask whatever questions you have. It's important to us that our close friends and families be educated about CF. There is a lot of information on the web, some good, some bad. A great resource if you have any questions is the Cystic Fibrosis Foundation. Or feel free to ask us and we can get an answer for you.

I apologize for the length of this post/letter, but there is so much that I want to remember for our family and there was a lot to share with you. Thank you for your patience.

With love,

Reid, Angie, Kai and Finn