I love someone who is rare

Last updated: 01 March 2019

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rare patient with heart

Today is Rare Disease Day but rare diseases are not so rare at everyone.org. Many of us have been affected by rare diseases on a personal level and our colleague, Sera, is, unfortunately, no exception.

Q: Hi Sera, tell me about your dad.

A: My dad is strong, I really look up to him like a hero. He works in healthcare in Turkey and has taken care of many people in his life. He's always been like that. He's outgoing, social and super smart.

Q: How was he diagnosed?

A: In 2015, it was found that my dad had low blood pressure, but we thought it was a normal result of getting older. Then he had balance issues, which we thought was related to the low blood pressure. It turns out that he had had an embolism (blood clot) in his ear, so for a period of time he couldn't see or even move his eyes because it hurt him and made him nauseous. By 2017, he was diagnosed with Parkinson's because it has similar symptoms like slow movement, rigid muscles and poor balance.
By the end of 2017, he'd seen at least 10 experts who confirmed that it wasn't Parkinson's. Even among experts, it wasn't easy to figure out exactly what he had. His disease is called Multiple System Atrophy (MSA), and is also known as Parkinson's Plus Disease, Parkinsonism or, formerly, Shy-Drager syndrome.

Q: What do you know about about MSA?

A: It's a rare neurological disorder and experts are still unsure of how or why it occurs. There is no cure. It usually affects adults over 50, my dad was 70 when he started showing symptoms.

Q: Since there is no treatment, what does he do to fight MSA?

A: He takes dopamine and other medicines to treat symptoms similar to Parkinson's. That's about 10 pills a day. The nutritionist put him on a mainly plant-based diet with no alcohol. He also has physiotherapy, massage and speech therapy four times per week.

Q: What kinds of symptoms does your dad have now?

A: Dad has an aggressive, fast-progressing type of MSA even compared to other patients. He can't speak clearly anymore and his movements are uncontrolled; that comes and goes. He has a hard time digesting and shouts in his sleep without remembering why.

Q: There's often a psychological impact related to living with a disease. How does it affect your dad?

A: It is rough because he was a really social guy, always meeting friends at the weekend, he was very active in the community and so. Now he's always tired and can't do everyday things like before. He's not motivated and becomes emotional more easily. Only having limited mobility makes him feel like a burden. He's anxious about what the future holds for him (from what he reads, it's not good), and worries that he won't be able to take care of his family.

Q: How does it affect you?

A: It's really hard to see my dad like this. I feel like my hands are tied and I can't do anything other than sit and wait. It makes me appreciate him more and not take this time for granted. He's still my dad, my hero.