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Mastocytosis: symptoms, treatments and experiences of a patient with a rare disease

A member from our French platform has agreed to tell us his story. With a rare disease, mastocytosis, it took him many years to get a diagnosis following personal research and logbooks that he filled out and showed to health professionals. Here is his story.

Can you introduce yourself in a few words?

It's not an easy exercise to introduce yourself! I am a man who lives alone, a little by choice at first. I lost my girlfriend in a traffic accident and in the beginning, I wasn't looking for anyone to replace her. But I say "at the beginning" because, in 2010, I had the first major manifestation of my disease and I would have been very happy to have a partner to help me.

I was helping my parents, it was not always easy to find yourself sick and to also have to hide your disease so they don't feel worse.

How did you find out about our site?

In my village, almost no one had the Internet and I think that if I hadn't had this crisis that almost led me to the gates of Saint Peter, I would never have had the Internet and therefore I would never have known Carenity. Because the reason I installed Internet was to understand many things that I didn't comprehend about my disease. That's how, from thread to thread, I got to your site.

When did you first discover your illness?

It's complicated... I think I've never been normal, but the strongest episode was in 2010. Shortly before, I had lost my mother, I had to help my father who lived across the street from me. I spent a lot of time taking care of him so I didn't take much time for myself. I often ate things that were quickly prepared, white ham, peeled shrimp, lots of chocolate.

On June 21, 2010, I felt very uncomfortable at work, my fingers bent backwards, something impossible to do in normally. My cheeks became shrunken, my legs were no longer carrying me, I was half deaf... There were people all around me but I didn't realize it and I was thinking that I was dying. Since then, I have done a large number of medical examinations, some of which are unthinkable, I assure you. Before I developed this disease, I was a very modest person, but today I don't have much to hide.

What were the symptoms?

I'll try to be as clear as I can, starting from the upper body to the lower body and then again, I might forget some:

- Overproduction of sebum on the face: this forms patches of unsightly dry skin and when I remove them, an oily liquid comes out. If I go a day without using micellar water, it comes back over and over again.

- Vertigo: it is painful and happens regularly. It's difficult to move comfortably around or even to do the minimum of housework.

- The desire to sleep: when it happens, there's nothing I can do, I have to sleep. When I didn't know I had this disease yet, I went to work twice anyway with a heavy head and a good dose of coffee. It didn't help, I fell asleep in my car... Fortunately, I didn't hurt anyone, I just woke up, the car in the ditch, without knowing how I got there. The first time I went to work anyway. The second time I went home and took my blood pressure, I was over 17. I still often have sleep attacks, today I no longer struggle and when it happens I just give in and sleep.

- Strong reaction to odors: it's also painful, a smell that bothers me can make me very sick, like room perfumes or home deodorants. One day, I was helping my father bathe while waiting for the ambulance  after he had a bad experience with his heart. I sprayed a product in the bathroom afterwards and when the paramedics arrived, I could hardly talk. All smells are harmful to me, I am lucky to have fields around my house... when my farmer friends treat their fields, I taste it, especially when the wind comes from the north and sends the smoke from my neighbor's oil heating system. So at home I use wood heating rather than oil. Everything is natural with me. The advantage is that plants flourish around my home!

- Sensitivity to the sun's heat: the sun causes me painful red blisters. However, the artificial heat of a radiator doesn't bother me.

- Hyperacusis: (editor's note: a debilitating hearing disorder that makes you extrememly sensitive to sound) it's something extremely tiring, especially when I can't identify where the noise I hear is coming from. In a way, it would be possible to compare me to the hero of the 1980s, "The six million dollar man". But for me, it's not an asset.

- Headaches: nothing works against these migraines except as much complete darkness and silence as possible.

- Glaucous: (editor's note: when your skin developes a bluish tint) It seems that this is about the same as what people with cystic fibrosis experience but to a lesser degree. No medication cures this, I just need an environment without harsh surroundings for my body.

- Stiff arms and legs: they even prevent me from driving sometimes for a short while... sometimes I see the bottom of my fridge before I can go shopping (because of the absence of public transport in my village).

- Stomach ache and almost permanent diarrhea: I have never experienced constipation in my life.

- Heart too slow or too fast: it is enough to make you go crazy and yet for all the examinations, my heart is normally paced and everything is fine.

- Irritating cough: this happens when I eat or breathe something polluted. Foggy days are difficult.

- Night itching: at night, my whole body itches and especially my back. Some mornings, when I arrive in the shower, I sometimes see my body scratched by my nails because I have mechanically scratched myself.

- Intimate problems: dry skin and a couple of other things - I won't dwell on that, we all have our secret garden.

- Depression: I suffer from depression from all the symptoms and I have anxiety attacks when my heart gets out of control. Obviously, the fear of death is at play.

- Suicidal impulses: it comes like that, for no reason, I have to fight not to do it, all the nerves of my body tremble....it's something else. In these moments, I wish I had a partner to help me during these times. 

- Burning sensation in the arms

- Sweat: sometimes this can happen when it is less than 62°F, go figure!

You were the acting force in your diagnosis, can you tell us more about that?

I had always known that something was wrong with me, but well, everyone told me that it was just me being nervous and that I was unhappy with myself. Until my crisis in 2010, I hadn't looked any further. However, after the crisis, I wanted to understand what was going on. I had seen it before in my mother and I knew where it had led her: to the cemetery.

I really wanted to understand. My general practitioner told me that there was nothing to understand, that it was spasmophilia. I can't count the times I have been in the emergency room in my region, suffering and without anyone understanding. So, after being told that I was crazy, I finally believed it and so, to get better, I stayed in a mental health facility in Jarnac. Unfortunately, it didn't bring me anything but I learned a lot about people, it was an experience for someone like me who is curious about everything.

All the heart, bowel and other tests you can imagine, I did them and you know what? On the x-rays, there's nothing visible. I did psychotherapy and then one day, I got tired of all that, I bought a school notebook on which I wrote everything down, from my activities to the weather, how the moon was, my diet... After two weeks, it appeared that every time I ate chocolate, I would experience a seizure.

It felt good to know that I wasn't that crazy after all. I waited a little longer and showed these results to my general practitioner.

Following your "chocolate" discovery, you then had to consult an allergist?

I had been taking antihistamines in normal doses for a very long time, after having had an allergy to an antibiotic. My general practitioner put me in contact with an allergist from Angoulême. I had to stop taking antihistamines in order to get tested. I felt bloated after eating, I phoned my brother and told him that things were not going well, he replied: "Just stop it, it's psychological, that's all". If it was psychological then why was my neck swelling? Around 2am, I called a doctor helpline and took my medicine again on their advice. The improvement was tremendous.

The allergist immediately described what I was going through and asked me if I also had any intimate concerns. I have a pride so I said no. She didn't try to go deeper, but she gave me a leaflet with things I shouldn't eat anymore. She also gave me the number of a specialist (perhaps the only one in France) at the Bordeaux University Hospital.

How has your diet been transformed?

When I got home, given my list, I didn't know what to eat. Tomatoes, forbidden. Spinach, prohibited. Beef and veal, in moderation. Pork, prohibited. Fish, prohibited. Dry sausage, forbidden (I was crazy about it). Fermented cheese, fermented drinks, fermented food, canned tuna, smoked herring eggs, not recommended. Pork, chocolate, strawberries and fruits were potentially deadly. There were many other things... I also had to quit smoking, which I did several months later.

I asked my pharmacist if the laboratories had provided menu ideas. She had never heard of my illness and even took my leaflet of banned food!

Back home, chestnuts and potatoes were the main ingredients of my meals for a long time.

After six months, you finally had an appointment with the Bordeaux specialist?

Looking at all my exams, he sighed, told me that the doctors were stupid, and then gave me a treatment that my general practitioner could easily repeat. Before leaving, he told me: "No food restrictions, you have to eat a little of everything in reasonable quantities except chocolate, strawberries and pork in all its forms".

How did you feel after the diagnosis?

At first, I was happy to have a diagnosis, but then, as I had known many misdiagnoses, I doubted it was the right diagnosis and did more tests. But these tests and my reactions to contrast agents (among other things) led me to admit that mastocytosis was the cause of all my ailments.

What was the reaction of your loved ones?

For the little I still saw of them, they were a little surprised to know that I was not psychologically ill, to be polite, because they thought I was missing a few screws.

On a daily basis, what are the impacts of the disease?

It always hurts somewhere, but the worst part is when I'm in front of my plate: I always have this question: "How will it be after I eat this?" The pleasure of eating, the only pleasure I had left because I no longer smoked, I hadn't had sex, I hadn't drunk for almost twenty years and I didn't take drugs (well, apart from my medication)... that pleasure too had been taken away.

What treatments are you on now?

I take high doses of antihistamines, PPIs and antipsychotics, usually the latter, I have taken so many for nothing that it is difficult to stop taking them.

What is the most difficult thing to do on a daily basis?

Remain worthy, I think, have the courage to shower, to look good, when you don't expect anything from anyone anymore. Someone who doesn't know can't imagine the hell we live in.

What advice would you give to a relative of a patient with a rare disease to help him or her?

Believing them when they say that every doctor is wrong and, rather than thinking they're psychologically ill, push them to do more tests and examinations. They need their family support and encouragement to get a diagnosis.

What advice would you give to a person seeking a diagnosis?

Courage, more courage, despite the many failures, we must continue, until we know.

What advice would you give to a patient with a rare disease?

Given the current situation, since these diseases do not bring enough money to the laboratories for there to be real treatments, I would tell them to learn to pray.

The last word?

Thank you for allowing me to share my story and to make known a rare disease to the medical profession.

avatar Louise-B

Author: Louise-B, Content & Community Manager

Community Manager of Carenity in France, Louise is also editor-in-chief of the Health Magazine to provide articles, videos and testimonials that focus on patients' experiences and making their voices heard. With a multidisciplinary background in journalism, she coordinates the writing of content for the Carenity platforms and facilitates the members' interaction on the site.

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