When you hear hoofbeats, think horses not zebras.
Once upon time there lived a happy, healthy young filly. She grew up prancing around, jumping fences, and running around open fields with her friends. She wasn’t the fastest runner so she didn’t aspire to be a race horse, but she could run faster than about half of her friends and excelled in other activities. She tried all sorts of things from polo to show jumping to rodeos. But the one activity that she never grew bored of was dressage. The first time she tried it, she knew she had found her calling. She spent every day working with dressage instructors from the time she was a tiny foal until she was a full grown horse. She loved the freedom and exhilaration she found when she practiced and performed. She loved letting the music touch her soul and prancing to the beat.
But alas, she wasn’t going to make a career out of being a professional dressage horse, she just wasn’t as talented as the professional horses. She became a work horse instead, she loved her work. She worked with children, teaching them how to ride and found great fulfillment in that. Occasionally after work, she and her fellow work horses would hit the local barn and get their dressage on. She still found joy when she let the music take over and boogied on the dance floor.
One day she woke up with a terrible headache. It was odd because she never really suffered from headaches before. She didn’t think too much of it, but then the same thing happened the next day, and the day after that, and the day after that. After two weeks of waking up with headaches she finally went to see her veterinarian.
The vet ran all sorts of tests to rule out things like brain tumors and allergies, but the tests showed that she was as healthy as any horse. They tested her stable and work place for contaminated hay or other poisons, but found nothing. They kept giving her pills to ease the pain and help her sleep, but all that just seemed to make the headaches worse.
They kept testing and medicating her. One day, the vet noticed that she was taking a little longer to rise from the floor. Upon closer examination he determined that she had some muscle weakness and so he started concentrating his testing on that symptom.
After several more tests and a painful muscle biopsy, the vet diagnosed her with Inflammatory Myopathy. It wasn’t uncommon, and could be managed he promised. He gave her new pills and sent her on her way.
The new pills didn’t do what was promised. In fact, they made things worse. She couldn’t sleep and was ravenously hungry. She was miserable on the pills and asked the vet if there was anything else. He told her there wasn’t, so she asked if she could just stop taking them. He told her she could, but that there was nothing else he could give her for her condition.
That was fine with her, the side effects were worse than not taking the pills at all. So she went on with her life, finding new ways to live her best life all while her muscles continued to slowly weaken. She lived a decade like this, slowly getting weaker over the years but still fighting to live a full and exciting life.
One day her weak muscles really let her down, she fell and hit her head on the ground. She trotted herself over to the local emergency room where she was diagnosed with a concussion. She was sent home with pain killers and was told to follow up with a vet who specialized in neurology.
As directed, she saw the neurologist who confirmed her concussion. He took a special interest in her muscle weakness too. She told him she already had a diagnosis and that the pills for it didn’t work for her. He convinced her to give the pills another try because a lot had changed since she was first diagnosed. She agreed and while the pills did not have the side effects she experienced the first time around, they still did nothing to improve her strength.
The neurologist said it was odd that she hadn’t responded better to the pills and wanted to do more testing. She agreed and after a lot more tests including another painful muscle biopsy, the vet told her something that left her scared and confused. He said the second biopsy and the lack of improvement from the pills confirmed that she did not have Inflammatory Myopathy. He told her that he didn’t know what she had. She had been misdiagnosed, all that time. The vet didn’t know what to do, he didn’t have the resources at his clinic to move further along with her diagnosis. He wanted her to be seen by a specialist at a world-renowned clinic in another pasture, which was far away.
She went to the specialist that her insurance allowed, which was not the specialist her neurologist wanted her to see. She went to see this specialist in the next pasture over. She saw this specialist month after month, and endured test after test. During this time her health declined rapidly. She was in pain, the headaches were worse, and she was having trouble breathing. She stayed in her stable most days, because leaving was just too painful and miserable. She asked the specialist if there was anything he could do to help her with the headaches. He said the headaches were not related to her muscle weakness, that there wasn’t a muscle condition that caused headaches, and therefore she needed to see a headache specialist about them.
Month after month passed and there was still no diagnosis in sight. Finally she began to understand the reality of her situation. She left her stable to be with her own kind. She made her way to the Forest of Imaginary Illnesses to be with the other unicorns. To be with the horses whose symptoms could not be explained and so they must not be real. Everything they complained about was a made up fantasy, which is how unicorns came to exist. She lived in the forest, resigned to a life where she suffered from symptoms that were all in her head.
One day a zebra wandered into the forest and he came across the sad and scared unicorn. He asked why she was so sad and she told him her story. Then he asked her why she was living with the unicorns when clearly she was a zebra. She told him of her diagnostic journey and how they couldn’t find anything wrong with her. He told her that he really thought she was a zebra, that she had something called Pompe Disease. He encouraged her to ask the vet to test her for that. She didn’t see what she had to lose, and went back the vet and asked for the Pompe test.
The vet laughed at her request. He told her that Pompe Disease does not occur in full grown adult horses, nor does any other form of Muscular Dystrophy. With her last bit of hope squashed, she returned to the Forest of Imaginary Illnesses where she ran into her zebra friend again. She told him what happened and he replied that it was horse shit. That she needed a second opinion. He told her that the vet was very misinformed about Pompe Disease and Muscular Dystrophy.
She decided to give it one more shot and was finally able to see the special vet that her neurologist wanted her to see in the first place. After more tests and exams the vet from the far off land confirmed what her zebra friend had suspected. She had Pompe Disease, she wasn’t a unicorn after all – she was indeed a zebra.
Tears ran down her face, she was so happy to finally know what was wrong with her. That is was real, and not just in her head. The vet informed her that there was even a treatment available for Pompe Disease and that her headaches were indeed a symptom, a very, very common symptom of Pompe Disease. She thanked the vet over and over again, her life made sense again. She started treatment as soon as she returned home.
She thanked her zebra friend for pushing her to find the answers. He led her to a nearby pond, and told her to take a look at her reflection. When she did, she saw that he was right along, she was a zebra. She stood there and admired her stripes, which she felt were very slimming and stylish. He introduced her to all sorts of other zebras, some with Pompe Disease and some with other rare diseases. Most of them had spent time in the Forest of Imaginary Illnesses on their quest to find a proper diagnosis. Her zebra friend said he had spent a great deal of time in there himself thinking he was unicorn, which is why he always went back to help others see their stripes.
The newly diagnosed zebra swore she would help others too, that she would pay it forward and advocate for others as he had done for her.
She was proud of her rare stripes, they were better than the imaginary horn of shame she was previously condemned to wear. She wore her stripes with pride and embraced being rare.
Happy Rare Disease Day! February 28, 2019
Show your rare!