Like most people, I’d heard of cystic fibrosis (CF) but couldn’t really tell you a lot about it. A dear friend of mine named Stacy has been really influential in teaching my family about CF, since her daughter Elsa has it. I felt very strongly about getting some information out into the world to help more people, especially parents, learn about life with cystic fibrosis from a mother’s perspective.
Names have been changed to protect privacy.
Elsa’s Diagnosis Story
When I was pregnant with my first, my son, I got all the normal testing and found out that I was a carrier for the delta508 CF gene, the most common. We had my husband tested and he was found to be negative. So we finished my first pregnancy and entered my second with no fear. What we later found was that my husband’s CF gene is incredibly rare and out of the 1,700+ gene mutations that lead to CF, my husband was tested for less than 100 of them.
Fast forward to my 2nd pregnancy, with my CF warrior daughter. I had been in labor for 8 days and the hospital kept turning me away. The morning of the 8th day I made it to the hospital parking lot. My husband ran in to get me a wheelchair and no sooner did he close the car door than my water broke. I had one more contraction and she entered the world. Luckily I was wearing pants… When I saw my husband running back with the wheelchair I held her up and smiled. I have never seen that level of shock and awe. It was amazing.
Since she was born in the car there was a lot of confusion that followed. The infant screening was not taken immediately and the results were not given to me until her 3 month check up, where I was told that she had indicators for CF. We got her sweat test appointment 2 weeks later. They measure the salt levels of their sweat to diagnose CF, if you were to lick her she tastes like a potato chip…
At her 4 month appointment we were told that Elsa had lost 1 pound between her 3 and 4 month appointments and that her sweat test came back positive. We were sent immediately to the CF specialist team to begin our journey as a CF family.
How do you define CF?
“Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.” –CFF website
Cystic fibrosis is a lonely invisible disease. Technically speaking it is thick mucus that builds in the lungs, digestive track, and pancreas causing lung problems, malnutrition, and bowel blockage; but where that mucus sticks is different for every patient. Some kids have mostly lung symptoms, some mostly digestive, some have almost no symptoms… even if the kids have the same pair of CF genes. So there is no indication how my CFer is going to progress.
Invisible because you would never guess anything is wrong just by looking at her.
Lonely because CF patients also have special germs that only they can catch and share. This means that CF patients cannot even be in the same room as one another without risking exposure.
How does CF affect your daily life?
There are a lot of preventative treatments we use to keep our CF warrior healthy. So there is definitely a lot of time, as well as processes and schedules, required to care for a CF patient.
We start every day with proton-pump inhibitor to help with digestion. Then we spend 30 minutes doing her AM breathing treatment that includes an inhaler to open her airways, nebulizer hypertonic saline (salt water) to thin mucus in her lungs, and a large vibrating vest to shake the mucus out of her airways. We stop the treatment every 5 minutes to cough, and do deep breathing to aid the vest.
Then we have 5 meals/snacks a day taking enzyme pills to help her pancreas digest her food. All the while I try to get her to eat high fat, high salt, and high protein meals to help keep her weight up. Elsa also takes a fiber supplement to help prevent bowel blockage, and a vitamin to help malnutrition.
Then we have a nightly breathing treatment that is much like the morning one, except it is followed by a second nebulizer medication that lowers the excess DNA that accumulates in the lungs by the airway secretions. It takes about 45 minutes.
Then we do a feeding through her g-tube, a little port in her tummy that allows me to shove a few extra calories into her before bed. That is accompanied by more enzymes.
Along with treatments we also have to be constantly aware of germs. Constant hand washing, face masks at the hospital or very crowded places, avoiding sick kids… the list goes on.
Then we have quarterly CF specialist appointments, yearly x-rays, yearly pediatrician appointments, bi-yearly gastronomy appointments to check her feeding tube, and many more.
I make a lot of charts, schedules, and calendars. Our world revolves around her needs!
What were your biggest challenges or surprises?
Giving pills to a 4 month old was no treat…
Biggest personal challenges come when a new medication or treatment is given to her. Fitting it into my already stretched schedule and getting her to accept it/comply with it can be difficult.
Outside the home, it is challenging to teach her how to deal with questions and staring. She got all nourishment through her g-tube in the beginning. She was about 18 months and we were at In and Out Burger. A group of girls, around six kids in all, were pointing and talking as I gave Elsa her pills and fed her. Even at that young age I could see her embarrassment and sadness, she was literally withdrawing. So I had to learn to turn the script. I asked the girls’ parents if they could come over and see how everything worked. I answered their questions and Elsa immediately began to smile and point to her tummy saying “button!” Now she will see people staring and start explaining or educating.
What helps you two on tough days?
We are a team, our little family of four. It is us against the world. When times get really tough we retreat into each other.
We also have some great friends and family members who are always there when I need to vent or whine.
Mostly we try to be proactive. I volunteer with the Cystic Fibrosis Foundation, seek to educate wherever I go, and raise funds whenever I can. My daughter actually has a very mild form of the disease. I know how hard we work with a mild case, I can only imagine an extreme case, so I raise money and awareness for them. Honestly, they don’t have time.
What can someone say or do to help?
Educate yourself. It is hard to get advice from people who don’t even know what is going on. “But she looks so healthy” or “She’ll grow out of it” drive me crazy. It is a progressive and invisible disease. She is going to look healthy as long as we stay on our schedule and she is only going to get worse, not better. That’s why I have my routines.
Vaccinate your children. The less germs out there, the safer it is for all children. Measles kill a normal child, they will not be kind to mine. Flu vaccines are a miracle and a blessing in our house.
The best things I hear are “you are doing a good job” or “she is a fighter.” Because this is a marathon, there is no end to these treatments, so encourage us to keep going.
Finally, practical help trumps gifts. The best thing anyone has done for me is to clean my kitchen and make my son feel special. In the beginning, pre-feeding tube, we were in the hospital a lot. Two of my friends came by and cleaned my house and it was honestly the most amazing thing anyone could have done for me. My grandma took my son and spoiled him rotten, again the most amazing favor I could have asked for. He didn’t even miss us she spoiled him so much. Whether he is being ignored or overlooked is a constant thought for me.
What gives you hope?
When I got Elsa’s diagnosis everyone kept saying, “If you have to have CF, this is the time to have it.” At the time it was no comfort, but now I understand. In the 1950s, kids with CF weren’t living to start kindergarten. Now over half of the CF patients are adults! That is amazing progress in a relatively short time. The strides being made every year in treatment, symptom control, and dietary assistance are astounding. I am grateful every day for my list of treatments and my cupboard full of pills! They are making life possible for my CF warrior!
How has having a child with CF changed you?
Before Elsa’s diagnosis, I considered myself laid back, really I was passive and a bit of a doormat. I was also extremely socially awkward and lacked a great deal of confidence/trust in the people in my life.
Since the day I found out my daughter had this challenge (and it is just a challenge, not an end nor a disadvantage), I transformed into a confident, organized, proactive, Mama Bear. I am not afraid to ask questions. I am not afraid to speak up. I am not afraid to question doctors, or even demand new doctors. I found out who my real friends were real fast… so I tell people I love them, even if I think it’s too soon or inappropriate. I don’t lose sleep over the small things. I try to say “yes” as often as I can, because I have to say “no” a lot. Life is precious and short, so we are making the absolute most of it.
What groups or individuals can we follow, donate to, and support?
To learn more:
On Facebook I follow Caleigh Haber @fight2breathe. She is an adult CF patient who just had a double lung transplant. She is incredibly well-spoken, always positive, and very inspiring.
On YouTube I follow Lauren Rowe at Gifted Life. Again, an adult CF patient post-lung transplant who takes a humorous and lighthearted approach to her daily struggles.
The Cystic Fibrosis Foundation is an amazing organization. CF is an orphan disease, meaning there is no government funding. Any and all medical breakthroughs come from private donations. The Cystic Fibrosis Foundation also provides education, support, and legal/insurance help to CF patients.
The Cystic Fibrosis Foundation: Adding Tomorrows And Living Today