Shining Light on My Sister’s Journey to Diagnosis
Many rare diseases, such as relapsing polychondritis , spinal muscular atrophy , opsoclonus myoclonus syndrome , and sarcoidosis , are often difficult to diagnose. In many cases, patients like my sister, Carolyn, are undiagnosed for many years with no answers. Here is her journey to diagnosis and my motivation to raise money for the UDN Patient Assistance Fund.
Fall of 1983 – Spring of 2004: Growing Up with my Best Friend
My little sister and I were two years apart and two peas in a pod. When Carolyn Dunyoh was born on October 4, 1983, I was gifted with my best friend. From that day on, we were basically indivisible. From a very young age, I believed that regardless of any challenges I’d face in my life that I’d be able to handle them all because I’d always have my sister by my side. We’d often joke that we would live together in our old age. We envisioned ourselves in our 80s, sitting together on our porch swing chatting away the same way we did when we shared a room as children. Was our relationship perfect? No. We fought hard but only because we loved even harder.
Spring of 2004 – Mystery Cough
Carolyn had developed a nasty cough. She had the cough for weeks, and eventually tried lozenges and basic over-the-counter cough syrup but nothing was helping. My sister’s boyfriend at the time suggested that she try Buckley’s cough syrup. Buckley’s was supposed to be the real deal. She bought some and took it. Her cough stuck around for a long time after she started taking it, but eventually it went away. Although it tasted awful (as the product’s slogan says), it appeared that Buckley’s did the trick! May this have been the first sign of my sister’s illness? We think so, but we will never know.
Summer of 2004 – Fall of 2005: Young and Carefree
Carolyn was 21 years old, and living the life! She shared an apartment with her best friend, LaVera, and they were doing what young people do: going to school, hanging out, being carefree, and meeting tons of new friends. Carolyn was really social and making friends was easy for her. She was an extravert and relished interacting with people. Carolyn was very vibrant and charismatic, and everyone wanted to know her. With that being said, I advised people not to rub her the wrong way! Like my mother, she was feisty and was quick to stand up for herself! I remember as kids when we would get in trouble with my father, I would immediately cry like a baby, while my 9-year-old little sister stood there stoically. If she felt like the punishment was unjust, she would stand up for the both of us.
Winter and Spring of 2006 – More Mysteries: Weight Loss, Chest Pain, Facial Changes
One day my sister visited me in DC from Baltimore (our hometown), and she looked much thinner than the last time I had seen her. In our early 20s, I was thinner than my sister, but it seemed that in the span of a month or two she had gotten skinnier than me! I asked if she was trying to lose weight. She said no, that it just happened without trying. When I suggested that she should see a doctor, she got defensive. She didn’t want anyone, including me, raining on her parade. She was enjoying her new svelte figure.
Soon after that, Carolyn’s nose started to look different – flatter. This is what we would later come to learn was a saddle nose deformity. She also occasionally complained of chest pain. When I asked her to describe the pain, she couldn’t. This chest pain is called costochondritis .
Summer 2006 – Breathing and Voice Problems
By the beginning of summer, my sister began developing breathing problems. Carolyn would become winded doing simple activities like walking. I remember when I helped her move in to a new apartment that summer. She needed to take multiple breaks.
Carolyn finally went to see her doctor, and the doctor diagnosed her with asthma . She was prescribed an inhaler and told to come back for a follow up visit. We were surprised by her late onset of asthma, but we were happy that she had a diagnosis and an inhaler. Anytime she felt short of breath, she would use it. But even with her new medication, she was often back in the doctor’s office or in an emergency room.
As the summer went on, Carolyn’s breathing had become more labored. And now, with every breath, came a vibrating sound. We would learn later that this is called stridor . Additionally, the tone of her voice started changing. It became deeper and raspier—very reminiscent of Eartha Kitt. Although some reassured her that it sounded sexy, Carolyn hated it! She went back to her doctor. At that time, the doctor changed her diagnosis to vocal cord dysfunction . As I understood it, Carolyn’s vocal cord would occasionally close when she was trying to breathe, giving her shortness of breath. The doctor recommended that she go to a speech therapist to help her control her vocal cords. When my sister visited the speech therapist, she told Carolyn that speech therapy wasn’t the right course of treatment for her. She would need to have surgery to see what exactly is going on in her airway.
My sister was terrified of having surgery. The most invasive procedure she had gotten up until that point was a vaccination. Despite her anxiety about the surgery, Carolyn was still trying to have the time of her life. We went to see Mary J. Blige at the Baltimore Arena (now Royal Farms Arena) in August. Her best friend and I sang at the top of our lungs for Carolyn since Carolyn couldn’t. We were still night-clubbing when we had the opportunity, and somehow Carolyn was still managing to get in a few moves. Unfortunately, no amount of fun could disguise the fear we all felt about the state of her health. Any time I went home to Baltimore to visit, I’d always stay with Carolyn. I remember nights that summer when I was scared to go to sleep for fear she would stop breathing. I thought if I stayed up, I could ensure she would live through the night.
September 6, 2006: Throat Surgery Reveals Diagnosis
The day was finally here. This was the day of Carolyn’s surgery. We were finally going to find out what was wrong, and hopefully, she would be able to breathe normally soon. I texted her that morning and told her I loved her and not to worry.
Carolyn woke up hours later with a tracheostomy . The surgeon said her trachea had practically collapsed. The cartilage, which normally holds the trachea open and allows air to pass through easily, was gone.
This discovery was the final piece the doctors needed to solve my sister’s medical mystery. She was finally diagnosed with something called relapsing polychondritis (RP) . Relapsing polychondritis is an autoimmune disease characterized by one’s immune system attacking his or her own cartilage. We had never heard of this disease before. And for good reason—this disease is very rare. Studies indicate that annual diagnoses of RP are about 3.5 cases per million. Very, very rare, and yet, my best friend was diagnosed with it.
We were all devastated and shocked. My sister is the baby of the family. The one we all protected, but none of us could protect her against this disease. Not me, my brothers, or my parents. She was in for the fight of her life.
Fall 2006 – Spring 2008: Coping, Learning, and Teaching
After her diagnosis, Carolyn attempted to continue to work, but it was difficult for her both physically and mentally. She was getting used to breathing with a trach tube and taking proper care of her stoma . She was unable to speak for the first 3 or 4 months after the procedure. She also started a heavy course of prednisone and immunosuppressants. The prednisone caused her to gain more than 50 pounds while the immunosuppressants made her more susceptible to infection. Her life changed dramatically in the span of 24 hours. This may sound odd, but even though she had been sick for months (maybe even years), in some ways, Carolyn didn’t officially become “sick” until she received a diagnosis and a trach. She went from a young carefree healthy person to a visibly sick person. She became depressed and very self-conscious.
Eventually, Carolyn had to quit her job, which meant she lost her health insurance. She filed for Social Security Insurance but was initially denied. Fortunately, two specialists, a rheumatologist and an Ear, Nose, and Throat doctor, saw her pro bono (free of charge). But despite being great and supportive, these doctors were not well-versed in her disease since it is so rare.
My sister wanted to learn more about her disease. She began doing research online and became much more knowledgeable, which empowered her to make decisions about her care. Carolyn contacted doctors in New York and Boston and begged them to see her pro bono for consultations in hopes that they would have some new or novel ideas for treatment.
While online, Carolyn also discovered a world of online support groups for her disease as well as support groups for people with trachs. She became involved in those groups and sought support from other people struggling with illness. And as months passed after her initial diagnosis, she went from “counseled” to “counselor,” advising newly diagnosed people.
Despite the additional information and support, Carolyn was still in and out of the hospital in the months and years following her surgery and diagnosis. Without insurance and treatment from doctors that were familiar with her disease, her progress was inconsistent. When it seemed like there was an improvement in her health, at the next turn, her health would regress again. She was still hopeful that her disease would go into remission, and that she would be well enough to get stents inserted in her trachea so that she could breathe on her own and have her trach removed and her stoma closed.
May 20, 2008 – Hopeful
Carolyn and I were watching trashy TV together, as we had many nights before (I from my new home in New Jersey, and Carolyn from her apartment in Baltimore). We were texting about whatever nonsense was happening on the show. If I am not mistaken, it was one of those cop shows where people get arrested and behave foolishly. This had become our daily end-of-day ritual. Not that we hadn’t talked already that day—we typically texted, emailed, and/or called each other every day, multiple times a day. We had an admittedly enmeshed relationship, which we enjoyed (but which thoroughly dismayed our boyfriends).
Carolyn was happy to be home. The week prior, she had been in the hospital for a few days. After that visit, we decided that she should find new doctors at Johns Hopkins University Hospital to see if they may have new ideas on how to improve her health. By this point, Carolyn had been approved for Social Security (second time’s a charm), and despite her most recent stint in the hospital, she was hopeful. We were all hopeful.
May 21, 2008 – Complications
Just over 1-1/2 years after her diagnosis following years of mystery symptoms, Carolyn passed away unexpectedly due to complications from relapsing polychondritis. She was only 24 years old.
May 2009-January 2015 – A Question in my Heart
In the years after Carolyn passed away, it had been on my heart to do something impactful to honor her memory. Carolyn was so young so she didn’t get to accomplish much. She went to college, but she didn’t get to finish. She wanted to go back when she got better. She didn’t get to travel much. Our family is from Ghana, West Africa. The last time we had been to Ghana was almost 15 years prior. She didn’t have children. She always loved kids, but she was told that after her course of treatments, it would be difficult for her to have them. Nevertheless, I didn’t want her life to be forgotten or for her legacy to simply be that of another victim of a very rare disease. I wanted to do something important to elevate her life and memory. I wanted to do something that I know she would have eventually done herself if she were still here.
This past January, I was talking to her best friend about the idea of launching a fundraising campaign in her memory, and she encouraged me to do it.
May 2015 – Present: An Answer Shines
This May, I launched Shine Light on Rare Diseases. It is a fundraising and awareness campaign dedicated to raising $10,000 for the Undiagnosed Diseases Network (UDN) Patient Assistance Fund managed by the National Organization for Rare Disorders (NORD). The UDN is a National Institutes of Health program designed to provide comprehensive testing to patients that have been ill but have not been able to receive a clear diagnosis.
Many rare diseases are difficult to diagnose and don’t receive the kind of support and publicity that other diseases do. In many cases, patients are undiagnosed for many years with no answers. In a survey published in the Journal of Rare Disorders , patients with rare diseases reported that the average length of time from the onset of symptoms to an accurate diagnosis was 4.8 years. And though Carolyn was not sick for that long, one could argue that if she had received an accurate diagnosis earlier, she might still be here.
The money we raise will help cover patients’ out-of-pocket medical costs in the program irrespective of whether they have insurance or not. (Carolyn would approve of that.)
Helping the UDN means so much to me. Getting people diagnosed—and diagnosed sooner—can help save and improve the quality and length of peoples’ lives.
— Sika, My Sister’s Sister
Sika Dunyoh is the founder of Shine Light on Rare Diseases. Shine Light on Rare Diseases is a fundraiser committed to raising $10,000 for NORD to support the NIH Undiagnosed Diseases Network. Click here learn more about the Shine Light on Rare Diseases campaign.