GREAT STRIDES 2020
Family and friends,
This past year has been incredibly trying for me and my family. This letter will be a difficult read, but it is my hope that by being open and honest about my experiences, you can gain some understanding of what it is like to live with this disease.
In July, a rheumatologist confirmed what some of my doctors have speculated over the years-I have Fibromyalgia. She also diagnosed me with Ehlers-Danlos Syndrome; a genetic condition characterized by joint hypermobility, skin hyperextensibility (unusually elastic skin), and easy bruising or scarring. After years of muscle pain, stiffness, and increasing fatigue, it was a bit of a relief to finally have a doctor confirm my suspicions. Since Fibromyalgia was a qualifying condition for medical marijuana, I took my new diagnosis and saw yet another doctor who would write me a prescription for that instead of adding another drug to my already extensive list. By the end of July, I had my medical marijuana card and I consulted with a pharmacist at one of the dispensaries who helped me select a few products. After two months of trial and error, I finally found a medical marijuana product that I could tolerate without side effects: a transdermal THCa patch! The patches definitely took the edge off of my pain and also helped to ease my anxiety and depression. I think the patches have also made the nausea a bit easier to manage, but since my GI symptoms are constantly fluctuating, I can’t say for sure.
Right before the CF walk last year, I had slowly but surely started to gain some much-needed weight, but I was still struggling with a myriad of unpleasant GI symptoms: significant pain, nausea and bloating, alternating bouts of constipation and diarrhea, an increase in my reflux symptoms, and occasional vomiting. After a couple of different CT scans (one that involved me drinking an absurd amount of a sickeningly sweet liquid), my doctors decided it was best to do a push enteroscopy and yet another colonoscopy. In late August, I was admitted to the hospital for five long days to prep for both procedures. While it was incredibly difficult to deal with four days of nothing but clear liquids and a nasogastric tube to deliver the colon prep, the worst part was being without Ellie. The procedures went well, but my doctors couldn’t find any explanation for my GI symptoms.
I continued to struggle throughout the fall and winter. In September, the results of a routine dexascan showed a significant weakening of my bone health, thanks to years of high doses of Prednisone and my low weight. I had also started to come down with signs of infection: I was feeling more run down, my chest felt tight, and I was having frequent coughing episodes that felt and sounded like I was on the verge of choking or throwing up, making it difficult to catch my breath. After a two-week course of IV antibiotics, my breathing improved and I finally started feeling a bit better. Unfortunately, just as one part of my body started to recover, another part of my body decided to rebel. For about a month I’d been experiencing a sharp pain in the lower right quadrant of my stomach and frequent vomiting. The pain wasn’t constant, but it had been getting worse, and I was afraid it might be appendicitis. My dad took me to urgent care one afternoon, and the MRI results showed the source of my pain: a small bowel ileus. An ileus is a lack of movement somewhere in the intestines that leads to a buildup of food and stool; if not treated early enough, it can lead to a complete bowel obstruction. My doctor instructed me to go on a liquid diet for a few days to rest my digestive system and hopefully clear the ileus without any other interventions. If my pain improved, my doctor said I could assume the ileus had cleared and then resume my normal diet. The severe pain disappeared after about a week, but it took me over a month before I was consistently able to eat solid foods again. Since my doctor didn’t order a repeat x-ray to confirm the ileus had cleared, I was constantly afraid that the ileus would return. The tiniest twinge of stomach pain instantly spiked my anxiety, and mealtimes sent my mind spiraling as I viewed food as something that could either help prevent the ileus or make it more likely to return. As the few pounds I had worked so hard to gain melted away, the tension between my parents and I continued to rise as they struggled with how to help me overcome this latest challenge.
On January 24, 2020, after months of waiting and maddening backs-and-forth with the insurance company, I started taking Trikafta, the triple-combination modulator that treats the underlying cause of Cystic Fibrosis. Patients only need one copy of the Delta F508 mutation to take this drug, which means almost 90% of the CF population qualifies, including me! However, since it doesn’t target my nonsense mutation, doctors aren’t certain exactly how or to what extent I will benefit from this drug. I was a bundle of nerves before taking that first dose for two reasons. First of all, side effects. I am the poster-patient for rare and serious side effects, so with any new medication, I’m always on guard for something to go wrong. Second, many people (I’m sure some of you are reading this letter!) were either notified by the CF Foundation or us when Trikafta had gained FDA approval and were eagerly waiting for me to start taking this “miracle drug.” Well, what if it wasn’t a “miracle drug?” What if I couldn’t tolerate it, or what if it simply didn’t work? Even though it wasn’t something I could control, I felt the heavy weight of many people’s hopes resting on my shoulders. There was also a tiny part of me that was afraid to acknowledge the possibility of failure. I wasn’t sure I’d be able to handle the disappointment if this promising drug that I’ve spent years waiting and fighting for didn’t help me at least in some small way.
Those first three weeks on Trikafta were a struggle. I had terrible stomach pain that felt like someone was squeezing and twisting my insides, almost-constant nausea, vomiting, headaches, muscle aches, and extreme fatigue. My doctors thought I might be constipated, and an x-ray confirmed their suspicions. After reading about some other patients’ experiences with Trikafta, I learned that constipation was a common side effect, and the recommendation was to clean yourself out as much as possible before starting the drug. Unfortunately, Miralax was what my doctors (and most patients) suggested, but my GI doctor actually took me off of Miralax years ago because it was causing me to become constipated. I temporarily stopped taking Trikafta as I debated how to clean myself out-do a bowel prep, or try Miralax. Despite my reservations about Miralax, I didn’t want to put my body through something as extreme as a bowel prep; thankfully, the Miralax worked and I restarted Trikafta after a few days.
The full dose of Trikafta actually consists of two pills in the morning and one pill in the evening, but some patients follow an alternate dosing schedule because of other medical conditions or medication interactions. With that in mind and the side effects becoming more difficult to handle, I decided to experiment with how I took Trikafta. I tried taking the full dose every two days, then every other day; that didn’t make much of a difference, so I tried taking just the morning pills every day. Despite the choppy dosing schedule, I had noticed two significant areas of improvement. For months I’d been having these episodes of a “choking cough.” It literally sounded like I was choking because I couldn’t take in enough air in between coughs. These episodes zapped my energy, and I never felt relief afterwards. But after a few weeks on Trikafta, my cough almost completely disappeared. Now if I have to cough, it’s a quick, loose cough that I can expel with almost no effort. The other area that improved was my sinuses. At the end of February, I had my regularly scheduled appointment with my ENT who I see every two months to clean the excess junk from my sinuses. I can usually tell when that two month appointment is coming up; I’ll start to feel that familiar pressure right between my eyebrows and in my cheekbones, I’ll get more headaches, and I’ll feel more stuffed up. Before my February appointment, however, I didn’t feel any of my usual symptoms and I’d been sneezing. Yes, sneezing! I hadn’t noticed, but my mom told me that for years now, I’ve hardly ever sneezed. All the junk that’s usually in my sinuses is too thick and clogs everything up. Now, like coughing, sneezing for me is almost a non-event. I’ll never forget the expression on my ENT’s face when he looked up my sinuses with the scope; he said he hadn’t seen them look that good in years. What is usually a several minute process of painful sucking, grabbing, and scraping thick infection from my sinuses took less than a minute. There was no mistaking it-the Trikafta was doing something! After weeks of struggling with side effects, this was the tangible sign I needed to push through and keep going.
The day after I saw my ENT I started taking just one of the morning pills every day. After six weeks and minimal side effects on just one pill, I began taking both pills every morning, but the closer I got to the fateful three week mark the more severe the side effects became. My anxiety increased significantly, and what little energy I had completely disappeared. The stomach pain, nausea, and heartburn were constant and made eating almost unbearable. So, I went back to taking just one of the morning pills every day, and while the side effects haven’t been eliminated, at least they’re tolerable. I eventually stopped taking the Miralax, and I also started a new GI medication in January that is supposed to increase the natural movement of the colon and help prevent constipation. The percentage of my medications devoted solely to making my GI system function is astounding, and it’s frustrating that despite all the outside “help,” it never feels anything close to normal. My hope is that my body will get used to Trikafta the longer I take it, and some of the side effects will subside or become easier to manage. Right now, nothing is certain; the drug is still too new, and research is still being done to gather more information. But it’s my only option.
Now for the question I’m sure you’re all curious about: how have I been coping with COVID-19? On March 21, Illinois’ stay-at-home order went into effect; in many respects, the order didn’t make that much of an impact on my daily life. I didn’t go that many places before quarantine; I simply didn’t feel well enough to go anywhere except for my doctor appointments, Ellie’s vet appointments, and the occasional run to CVS. After quarantine, I did not go anywhere except to get my monthly port flush. That means in a time period of over six weeks, I left my house only twice. All of my doctor appointments have been via telehealth, and I can drive through CVS for my prescriptions. My dad started working from home just a few days before the stay-at-home order, and he has no plans to return to the office anytime soon. Even now that some of the restrictions have been lifted, we still get most of our groceries delivered, and my parents both limit where they go and who they interact with. When any one of us does go somewhere, we immediately come home, leave all our clothes at the door, and go straight upstairs to shower. As the pandemic rages on, my list of what is “essential” continues to be extremely strict, making my world incredibly small. Aside from my acupuncture appointments, my port flushes, and a trip to the vet with Ellie, I haven’t interacted with anyone in person other than my parents for months. While these limitations might be difficult for most people to accept, as a member of a vulnerable population, I simply can’t afford to take any chances. I’m willing to do whatever it takes to safeguard my health, and since I can’t see this arrangement changing anytime soon, I’m more thankful than ever that I have Ellie to keep me company.
This year, the Great Strides Walk to cure Cystic Fibrosis will be held virtually on Saturday, October 3rd. Last year, Team Christina raised over $70,000! We would be so grateful for any amount that you could possibly donate:
1. Online at fightcf.cff.org. Just click the link below!
2. Also, if you work for a company that has a Matching Gifts program, we would be very grateful if you chose to make your donation that way.
These last few months have challenged all of us in unimaginable ways, but the test is not over yet. I know that some of you may be struggling to accept this new reality, but I implore you to think about others and encourage you to put someone else’s needs before your own. If you are reading this letter, you are directly connected to someone whose life is greatly affected by the actions of others. So please, I urge you: wear a mask! When you do, you are protecting someone like me. Practice social distancing! When you do, you are showing someone like me that I can count on others to allow me to enjoy public areas, like parks, with Ellie. And finally, follow your local city and state’s guidelines. Health is not something to be taken for granted.
All of my love,