I often wonder if the articles I write are helping patients or caregivers living with rare diseases, especially systemic mastocytosis (SM). I often end my articles with a note that sharing my story is worth it if I can help just one person. I get a few emails occasionally with questions about an article, and I love responding. But I have never really had another SM patient or someone searching for a diagnosis reach out to me.
This week, it finally happened.
It was like hearing my life story
A woman who lives here in Louisiana has been dealing with the same symptom burdens that I have dealt with for the last 26 years. Extreme bone pain, gastrointestinal problems, hives, urticaria, heart palpitations and many more symptoms that have basically stopped her from living her life.
We spoke on the phone and listening to her was like reliving my life story. But it was also heart-breaking hearing it happen to someone else, remembering the years I struggled with symptoms no one could diagnose. I don’t want other people to have to live through what I did trying to find a diagnosis.
She has been to many doctors, to no avail. Some even told her that she needed to go see a therapist because it might be all in her head. This was told to me, too.
She finally saw an immunologist who diagnosed her with mast cell activation syndrome after reviewing her symptoms and elevated serum tryptase levels, along with an endoscopy that showed an abnormal increase in mast cells.
This was a good start, but that was the end. They just gave her prescriptions for H1 and H2 blockers that target different histamine receptors. They also prescribed her cromolyn sodium that seemed to be working for her, but due to a shortage you cannot get that anymore. I authored an article about that shortage a year ago when I was having a setback and my oncologist wanted me to be put on it again for an abbreviated period — and it’s still hard to find.
So here we are with a drug shortage and a patient that was relying on that medicine to feel better. I get so aggravated about this, but I am getting off the subject of this article.
No other testing has been done for her. And I believe the most important one would be a bone marrow biopsy to either rule out SM or diagnose her with it. This is important because if she does have SM, a diagnosis would mean she could be properly treated. With advances in medicine this disease can now be treated at its source, not just its symptoms.
I think the next test that needs to be run on her would be a bone density scan to check for osteoporosis. Again, this happened to me. This disease destroyed my bones because no doctor that treated me prior to 2021 knew to run one.
I cannot explain how important it is to me that rare disease patients are accurately diagnosed. My heart is breaking for this woman having to deal with this. She is going to the doctor to ask them to perform the bone marrow biopsy. That is her first step. I told her I would be there for her anytime she needed me. And I will.
I would like to take the time to thank the person who connected us. She’s followed my story and read the articles I have written. She heard the woman’s story at church, made the connection and suggested she reach out to me. The woman went to the SM Companion site, read my articles and all the information this website provides and then contacted me at once.
Helping just one is not enough
I thought helping just one other person would be enough. But it’s not anymore; now, it’s if I can just help another person.
I will keep sharing my story, advocating for rare diseases with legislatures and speaking publicly to anyone willing to listen.
I had no one to point me in the right direction, and I suffered the consequences. I live my life now doing the best I can to prevent anyone else from having to live what I went through in search of a diagnosis. Our voices will be heard!
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