We hope to strengthen connections in the community through personal stories that describe barriers or challenges that a rare disease patient or family has encountered. We will evaluate how the barrier was cleared. If the challenge has not been resolved, we will explore what is needed to solve that problem. This quarter, we will describe some barriers that delay a correct diagnosis and delay an optimal plan of care. The following narrative includes an excerpt from a letter by the mother of a rare patient.
“I am writing to explain a small portion of the medical journey our family undertook when our daughter unexpectedly began having unusual medical symptoms at the age of seven. Tayler was a normal, healthy baby and child until she turned seven. One day, in First Grade, she collapsed on the playground and stopped breathing for a short time. A teacher picked her up and ran with her into the school; she remembers waking up while in the teacher’s arms. I took her to our family physician, who checked her carefully, deciding it was simply a matter of fainting without cause and there was no need to worry.
When a similar incident happened while playing at a friend’s house, I began taking detailed notes. I filled a notebook over two years, with anything related to Tayler’s inability to exert herself physically. During the course of these two years, I took her to numerous physicians, whom all agreed with our primary caregiver’s original diagnosis. Eventually, I took Tayler back to our primary physician who came to the conclusion that she had exercise-induced asthma. From there we were sent to an allergy and asthma specialist in Pocatello, Idaho. He prescribed an inhaler, Advair Diskus, for her to use once daily. This seemed to make her symptoms worse. By this time, Tayler could not walk 20 feet without stopping to catch her breath; we were told by every physician we visited that we needed to make her exercise to build up her stamina. This could have killed her, but no one was aware of her health condition.
Finally, with my notebook again in hand, I took Tayler back to her asthma and allergy specialist; he told me, because of her lips being so blue, he thought she had a heart issue rather than asthma. He recommended that we make an appointment with a visiting cardiology specialist from Primary Children’s Hospital. We waited four months for an available appointment, watching her symptoms get worse as we waited.
I remember walking into the cardiology appointment at Bannock Hospital in Pocatello, Idaho, and having to stop three times on the way in from the parking lot to allow Tayler to stop and catch her breath. We were taken into an exam room, and I handed my notebook to the visiting cardiologist. He read it cover to cover, and immediately excused himself and his medical students to go into the hallway, where I overheard him say, “I have to go talk to this mother.” Finally, after two years we had met someone trained and experienced enough to realize she had Pulmonary Hypertension. He recommended we consult with a colleague of his who was specializing in pulmonary vascular disease and made us an emergency Heart Cath appointment with this colleague. Tayler was sent out to the car in a wheelchair, and I was told to not allow her to walk and to take her off the Advair immediately, as her life was in danger.”
A cause for pulmonary hypertension could not be found despite many tests. During heart catheterization, she was evaluated with oxygen and 2 medications to determine whether she might be responsive to a specific agent long-term. The oxygen and one medication, prostacyclin, had no effect on the blood pressure in her lung. However, the other medication, nitric oxide, lowered the pressure to normal within a matter of seconds. Unfortunately, nitric oxide was not approved by the FDA to treat her at home. Her cardiologist decided to treat her with other medications that were thought to work through the same mechanism as nitric oxide. He was also able to provide her with a source of nitric oxide to inhale urgently and prevent life-threatening episodes of passing out.
During the following year, Tayler showed no improvement in the severity of pulmonary hypertension. Though, the blood pressure in her lung again immediately decreased after breathing nitric oxide during a follow up heart catheterization. Her cardiologist decided to test whether a common blood pressure medication relaxed the blood vessels in her lung. This medication, a calcium channel blocker, also immediately lowered the blood pressure in her lung. Thereafter, she was treated successfully with a comparable calcium channel blocker that she could take by mouth at home.
Care providers may need to explore different treatments when one therapy is not effective. Tayler was the right patient to be treated with the right drug (personalized or precision care). She would have potentially died as a child if her diagnosis was further delayed and if she did not receive the most appropriate medication. Instead, she graduated high school as salutatorian and Idaho State University with high honors. She is now 31 years old and practices as a dental hygienist.
Her story illustrates some common barriers for individuals with rare diseases, difficulty making the correct diagnosis and difficulty providing the best plan of care. Reasons for these barriers include:
- Care providers, even experts, may not understand the patient’s rare disease well.
- Patients may need to travel long distances and wait long periods of time to see a specialist.
- Clinical trials may be difficult to complete because the number of affected patients is not large enough to show a significant benefit from treatment.
- Companies may not have enough financial incentive to develop a therapy that can only be used in a small number of patients.
- Insurance companies may refuse to provide coverage for the treatment of children because the clinical trials for a rare disease were performed in adults. This is especially true if treatment is expensive.
Her mother added, “I write this letter to plead for more financial help, research, training, and education, in the medical field for rare diseases. There are many barriers to people with rare diseases. Please do everything within your power to improve care for people with rare health conditions.