This is me, Joann. Living with a rare disease. Hiding for years in my DNA. It snuck up on me in the prime of my life like a tornado in the night. There was plenty of physical proof in the form of blood tests. But no doctor could read what they saw. There were plenty of signs. But I was young they said and I didn’t fit in the small box of medical explanations.
Diagnosis after diagnosis followed by pill after pill, I too would have thought I was a med seeker. Not knowing at the time this was a progressive condition I kept returning with worsening or new symptoms. Baffled and frustrated I was sent to specialist after specialist. Confidence was arrogance in most cases for these specialists. And when an arrogant person boasts they can “fix you” and can’t you are told in some form or another it’s your fault. Needless to say this 8-10 year journey was not a pleasant experience.
At the pinnacle of my symptoms which ranged widely it now became life changing. Not in a good way but became catastrophic. My symptoms became disabling. They affected my job, my friends, my family and overall quality of life diminished. I attribute the lack of empathy due to the slow onset of debilitating symptoms.
My mom was a single mom my whole life. She raised me to be independent, strong and a survivor. It was this drive and motivation she instilled in me to keep going. Keep going in what you may ask? I knew I was misdiagnosed.
I was diagnosed with many different ailments over this long period of time. The most recent diagnosis prior to my current and accurate one was Fibromyalgia. My husband’s ex-wife who worked for a major hospital network said doctors only give that diagnosis as a wastebasket diagnosis when there is nothing physically wrong with you. I’m paraphrasing except for the “wastebasket diagnosis” part which was later confirmed by one of my specialists. “Wow” I said to myself. Thank God I don’t think I have that and pushed on.
I had seen probably every specialist there was. My primary was reluctant to send me to this last one. But I had a hunch. I call it my “spidey sense”. I researched my symptoms and came up with a theory that lead me to an imbalance in electrolytes/hormones/vitamins/etc. I insisted to see an endocrinologist. Here was where the magic happened.
I walked in the door and briefly went over my symptoms. He had a hypothesis immediately. I found out later it was because I had the answer in my blood work going back 5 years. But he did as all doctors do and he ran his own tests. He did x-rays, blood work, bone scans to confirm his diagnosis. One that eluded all doctors and specialists before him. One that only until recently with the advancement in genetic sequencing we have been able to find a treatment for. This one and only treatment has been approved for use in the United States just for the last four years. “You have hypophosphatasia!” he said I said, “what?”
This was just the beginning of an emotional rollercoaster. You just find out you have a rare disease. So you Google it. Guess what that means? Google doesn’t know crap about it either. But I kept digging learning all that I can. After the diagnosis was confirmed he prescribed the only drug that approved for treatment.
I grew up in fear of needles. I was so bad I would pass out or rub my legs like a cricket. As I got older I steadily improved my tolerance as I had to watch diabetics inject themselves as part of my job duties. Then I gave blood a couple times. IV’s were still difficult and needed a helping dose of Valium prior to a surgery. So wouldn’t ya know it, this one and only cure all has to be an injectable. Just my luck. I also needed two injections at a time, three times a week. Did I mention I have to do it to myself? Yes, I actually need to give it to myself. The girl who use to pass out at the site of needles is now injecting herself.
But lo and behold my nails stop breaking. Oh my, it’s working! I was so excited. The millions of other things about me are still broken, but my nails are growing. Other people would have thought I was nuts. Even the specialist thought I’d be cured at my next appointment. Because I later learned, he knew enough to diagnose the disease, but he knew very little about treating the disease. I was his first patient.
I took to Facebook where I’m in a group with others with the same condition. They knew right away what I was talking about. This made me feel good and validated. In fact, most of my information and validation has come from this group. They have meetings all over the U.S. so I decided to go to one.
I went to a Soft Bones meeting in San Diego California about three months into my treatment. I learned so much. I was like a sponge soaking in all the information I could. One thing I remember hearing from somebody is “it will get worse before it gets better”. This was in reference to the pain while on the medication.
I have never had a cold sore in my life. I’ve never been addicted to a substance like alcohol, cigarettes or pain killers. So when somebody says “it’s gonna get worse before it gets better” my dumb butt is thinking ‘yeah right, not me’. Oh contrar monfrier! I was out of this world with pain. This comes at a time where doctors are terrified to issue a Schedule I, II, III, or IV prescription of any kind. Being that I was misdiagnosed with Fibromyalgia I had already had my hand at the smorgasbord of pills and found them most to be harmful or ineffective.
Imagine a tall mountain and you are just climbing down its summit and the air is thin. You can yell and all you hear is an echo because there is no one around for miles. You’re exhausted cause it took you so long to get there. But you knew you had to go. You look back and knew you could have stopped many times and turned around and been satisfied with how far you had gotten. But something deep down told you to keep going no matter the cost and by the looks around you the cost was great.
This is me, Joann living with a rare disease hypophosphatasia. I lost my job. I don’t have the strength for friends. My family doesn’t understand so I have to fend for myself. Empathy is replaced with apathy. I can’t even blame them. I look healthy. Despite my handicap plate I get harassed regularly because I’m not over the age of 75 weigh 500lbs. or walk with some device. Yes, this one is invisible to the naked eye. And when that skinny dude drinking a latte that looks like Moby is taping a letter with duct tape to the windshield of my car to teach me a lesson to not park in the handicap, that causes stress which makes the healing process that much slower. Our society has a long way to go.