Patient Story: Fabry Disease Causes One Patient to Leave Their Home Country for Better Health Services

Munique Slongo is a rare disease patient diagnosed with Fabry disease. She has taken the time to share her story about what life with this diagnosis has been like.

Fabry Disease

A genetic, lysosomal storage disorder, Fabry disease occurs with a specific kind of fat known as globotriaosylceramide that builds up in the cells, which the body is not able to process. The buildup, which typically starts in childhood, can cause a variety of symptoms that impact numerous areas of the body. As symptoms worsen, they can become life-threatening, including stroke, heart attack, and acute damage to the kidneys. However, everyone is different. Some people do not experience acute symptoms as their disease onset may be later in adulthood. In these situations, Fabry disease primarily impacts the kidneys or the heart. Out of 40,000-60,000 males, only one male is typically affected. While many of the standard medical textbooks describe heterozygous females as being asymptomatic or having only mild symptoms, The Fabry Outcome Survey showed that the majority of females exhibit pain, cerebrovascular events, GI symptoms, and less frequently, severe renal involvement. The lag in medical  textbooks  has led, and to a lack of recognition and monitoring, and to the understatement of females with Fabry disease.

Symptoms:

  • Recurring pain in the feet and hands (acroparesthesias)
  • Small bundles of red spots on the skin that tend to be dark (angiokeratomas)
  • Loss of the capacity to sweat (hypohidrosis)
  • Dull, cloudy vision (corneal opacity) located in the visible, outer side of the eye
  • Gastrointestinal issues
  • Loss of hearing
  • Tinnitus (roaring or ringing in the ears)

Munique’s Story In Her Words

I was born in Brazil and lived there for 25 years before moving to the USA to have better access to health services, including my medication for Fabry Disease. It is important to note, I have Fabry disease. It’s a genetic disease that causes pain and can cause organ failure if not treated. My father had this disease too, but he passed away in 2014, at 44 years old, because of complications in his heart. I needed a fresh start: another motivation for me to come here and tell you a little bit of my story.

My earliest memory of my condition is my uncle picking me at school in the middle of the day and carrying me in his arms because I was having so much burning pain in my feet that I couldn’t even walk. As a child, I couldn’t even imagine that the pain would be my company for so many years of my life.

The journey until my diagnosis was tough. I only discovered Fabry disease when I was 15-years-old.  By this time I had already gone to many doctors with different specialties and got different diagnoses because I had multiple symptoms. I even got a doctor that told my parents that I was faking my symptoms to get attention. That for sure was a hard time for me, but I’m glad that my mother and father always believed in me. When I learned about my diagnosis, I wanted to go back to this doctor to tell him that I wasn’t lying about my complaints, but I decided to let it go. I focused on learning about my disease and ways to live my life with as few complications as possible. I’m a very positive person, and I always like to dream about possibilities for my future, so I centered my heart on my goals and did what I thought was the best for me at the moment.

I know that it can be challenging as a teenager to be told that you have a genetic disease that can progress and can’t be cured, but I was relieved. At least I knew that what I was feeling could be managed with medication and wasn’t making things up in my mind, because sometimes I was in so much pain that even I doubted myself.

However, I never expected that I would need to explain my condition to my future doctors. It was a surprise for me, and still is, when I need to see a new doctor and they don’t know about Fabry Disease. Thinking about that, I engage in creating online content to promote conscientization about my disease, as well as other rare diseases. I also try to share with other patients ways to cope that work for me.

Simple things like a cold shower, avoiding certain foods, cold compresses, and even meditation can be very helpful to manage Fabry symptoms.

People who just got diagnosed can get scared about the information that they find online, but I want them to know that having Fabry disease does not mean that you will not have quality in your life. Your life can be different, but different does not mean worse.

If I could look to that girl who just receive the diagnosis and wasn’t sure about what to do next, I would hug her and say: you will be fine, you will figure out, everyone does.

I hope for the future I can continue to grow as a person and pursue my goals. I want to talk more about rare diseases, because the disease can be rare but the information is not. Along with that, I want to show people that limitations don’t define one’s value, and we are much more than that.

I always had support from my family and think it was crucial for me to accept my condition. Today I also have support from my husband, who is a caring and loving person. I also find support in online groups where people share their struggles and their achievements. Having a supportive network is essential while dealing with a rare disease. It connects people, helps us to overcome difficult times, and makes the rare become normal.

– Munique Slongo

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