Friday, January 4, 2019
It's not fair to Addie to pretend like this isn't happening. We found out on December 21st that she has cystic fibrosis. It was a bumpy road to get to that point with a lot of confusion and false hope. How we got to this point:
On her newborn screener from the hospital at birth showed she carried 1 mutation of the cystic fibrosis gene (you have to carry 2 to have CF). Due to this showing up we were sent as a follow-up to get a sweat test done. Her original sweat test came back in the borderline range (30-60) which was odd but not worrying. We were sent to a GI doctor as a follow-up to this. Her first thought was that she was just a carrier because we only had the one gene show up but wanted us to get a stool sample and throat swab to check that those were normal. Her stool sample came back normal and the throat swab showed a very common bacteria that a lot of people carry. We felt relieved but were waiting for the more extensive genetic testing to come back (the newborn screener tests for 40 mutations whereas the extensive one tests for around 1700 mutations of CF). Insurance asks for you to get a sweat test at birth, 2 months and 6 months when you show you are a carrier of CF. So with the good results we went about our business as usual and scheduled our sweat test for December 12th not really thinking too much about it.
We noticed she had a little cough that would happen very sporadically but most often when she would be picked up from a nap or while she was sleeping. We didn't over analyze it thinking it was just due to going from flat to upright.
Well December 12th rolled around and I took her for her sweat test. We got a call that afternoon that unfortunately her test had gone up to 59 and 62 on her two arms. Heart sank. We still didn't know what this really meant since it was "right on the line" of positive and borderline. Because she had above 60 on one arm we were scheduled to meet with the CF clinic on the 21st.
December 21st we met with Dr. Kasi who confirmed that she indeed does have CF as a sweat test is the gold standard for diagnosis. We still are awaiting the genetic test results to know what second mutation she has as this will determine her severity and treatment going forward. The past two weeks have included a lot of tears and "why her" thoughts from us all. The past two weeks have also included the most amazing support from our friends and family. I've never felt clothed with more love than I have the past two weeks. What the future holds is scary and daunting. We are here to do everything we can to keep Addie as healthy as possible. At her first appointment they did a chest xray which showed she had some mucus on her lungs so we have been doing breathing treatments and respiratory PT three times a day with her augmentin twice a day. Her cough is gone and she is adjusting to this new normal of treatments. The first few days were miserable for all. Tomorrow when she finishes her antibiotic we can go down to twice a day of breathing treatments and PT. This will be indefinite until she can fit into a vibration vest (around 6 months) which will replace the respiratory PT.
Right now she is doing great and she isn't having to be on enzymes as her digestive system is working like it should (a common CF complication). We felt very blindsided and devastated by her diagnosis. This just means it will be part of her story but not all of it. Medicine is evolving every year thanks to research and the foundation's funding. It's pretty amazing that depending on what mutation you carry there are different drugs to help with your treatment. We pray for continued progression in medicine for our sweet girl. This is not what we envisioned for her life but we have to accept it and embrace it. She has a big purpose on this earth and I can't wait to see what she does with it. She is a very special girl with a lot of people who love her dearly.
Are there going to be hard days? Absolutely. We just have to pray on how to get through those hard times.
Below is the letter we sent to our closest friends and family explaining what life for us moving forward is going to be like.
Dearest family and friends,
We realize this email is very out of the blue but we wanted to let you all know so you could process before seeing us and so we also wouldn't have to tell this over and over again in person as we are having a hard time processing this ourselves. We got a piece of news last week that’s hit our family kind of hard. Addie has been diagnosed with Cystic Fibrosis. Neither Tommy nor I knew we were carriers so this has been quite a shock to us and our families. I know a lot of you aren’t familiar with the disease, so I’ll give a brief rundown of what this means for Addie and us.
Cystic Fibrosis is a rare genetic disease where the salt and water exchange channels in the body’s cells don’t function normally. This causes a buildup of mucus in the body. It mainly effects the lungs and pancreas and can also affect the digestive system. Addie does not have a compromised immune system, but this buildup of mucus makes the common cold potentially serious for our family if not caught and treated quickly. The mucus is a breeding ground for bacteria. Because of this, it’s possible that she will have frequent stays in the hospital as she grows up, though we’ll be doing everything we can to prevent that from happening. She’ll probably need a vibrating/percussion vest at 6 months that will help to loosen the mucus in her body. In the meantime, we’ll learn how to pat her back and chest in ways that will help until she is big enough for the vest. She’ll also need frequent rounds of antibiotics and daily breathing treatments as she gets older.
The effects on the pancreas can result in something called malabsorption where the body does not absorb nutrients properly from food. This can have a negative effect on her growth and could lead to failure to thrive. Fortunately, Addie seems to be growing and progressing well and is trending up in her weight and height. Please pray this trend continues as children who gain weight well tend to be healthier and have less problems down the road. Right now her tests results show that her pancreas is NOT “insufficient.” If that changes, she will start on digestive enzymes and high quantities of liquid vitamins (A, E, K, and D). She’ll also need lots of high calorie foods. She’ll need to eat between 10-100% more calories than the average person just to stay at a healthy weight and to make sure her body is getting the nutrients it needs. We are of course hoping this is not the case, although this is something that 80% of CF patients experience.
Because of the salt and water not exchanging properly in Addie’s body, we have to add salt to each of her bottles (1/8 tsp per day). This is because she loses salt faster than the average person and therefore can become dehydrated very quickly. As she gets older, we’ll have to watch her carefully in the summer months as she plays outside to be sure she doesn't overheat.
Different mutations of the gene present in varying degrees of severity and tend to effect different areas of the body. We’re still waiting on those results to come back so we’ll know more of what we’re dealing with.
We met Addie’s medical team this week and feel comforted by their true desire for us to have a healthy and happy child. We will regularly see a physician, respiratory therapist, registered dietitian, nurse, phlebotomist, social worker, case worker, genetic counselor, and mental health care professional. We are confident in them all and are grateful to have such a committed team fighting this with us.
The best ways you can help our family are to pray for us, Addie’s health and her medical team, wash your hands before you touch her, no kissing (however tempting that cheek might be), and please don’t come around her if you or your children are sick or have been for the last 72 hours. Please also understand that we may be forgoing more events this time of year to prevent exposure to the flu and colds.
Thank you all for the prayers and well wishes as we walk this journey that we’ve been given. We don’t know where it will lead us but we feel comforted knowing you’re with us in this. We wish you a Merry Christmas and a Happy New Year.
Lisa and Tommy
P.S. If you would like more information, visit www.cff.org for the most up to date and accurate information regarding Cystic Fibrosis.
December is always so full and fun with all the Christmas activities. We saw the Lenox Santa, Indian Hills Santa, rode the pink pig, Collier/Madison's pancake and pajamas party, St. Regis for drinks, SA extended "framily" dinner, Christmas Eve, Christmas day, baked cookies, Nutcracker with friends, Favorite Things party, children's museum, football games, played hookie with Emma out of school, and so much more. We had a great month with each other. I SO enjoyed keeping Emma home more than I sent her to school. She got her ear tube replaced on the 19th to the side that had fallen out in July and also got her adenoids done too. Hoping to not be as sick now for her.