Living with a rare disease

I am writing this blog post in English so my international friends can read it, too. I hope that you Swedish readers can manage anyway.

As some of you may already know, I was born with a rare genetic disease called Joubert Syndrome. In this blog post I won’t talk so much about the disease itself, nor how life is with this particular disease – this may become a future blog post. I rather want to talk about my thoughts about the disease’s rarity itself and how that have and is affecting me.

When I was born, nobody knew what was wrong with me. The doctors searched for answers and came up with one diagnosis after another, but none of them seemed to fit my symptoms. Only after an MRI scan when I was around 12 years old, I finally got the correct diagnosis – Joubert Syndrome. I believe there were two reasons for me being diagnosed rather late in life; necessary diagnostic tools (in my case the MRI scan) wasn’t commonly available when I was young, and the fact that Joubert Syndrome was so incredibly rare made that few doctors knew anything about it.

People with more common diseases as cancer or Down’s Syndrome have patient groups and resources of information to support them. But what support did I have with this rare disease? My excellent doctor of course researched everything he could get his hands on – he was a tremendous support for me and my family, but I longed for recognition in others. Other people who had the same disease as I had. By the time of my diagnosis we were told there was a family with two boys with the disease in Sweden. We wished to contact them but they declined. So, there I was, alone in my situation.

It’s a very special feeling to not really knowing what to expect, not knowing if a symptom is typical of one’s disease or something else. It’s lonely, in a peculiar way, hard to describe. I know that every human being is unique, but people with more common diseases or no diseases at all have other people they can relate to, they can express feelings and bodily reactions and be understood, at least partly. I remember that early on I decided to make my own path, to make my own definition of myself, because there wasn’t any definitions available to me of what I would face in the future or what I was supposed to be. As I already said, everyone is unique and have to make their own paths in life, but early on I sensed a difference between my path-seeking as a human being and my path-seeking as a person with Joubert Syndrome. It’s difficult to put this into words but I hope I make myself at least somewhat understood.

Then in the Autumn of 2006 my father and I went to see my cousin and his family. Before the trip I had come in contact with a woman whose son had Joubert Syndrome and they lived in a neighbour city of where my cousin lived. I was so excited to finally meet someone else with Joubert Syndrome so while we were visiting my cousin we also visited this boy with Joubert Syndrome and his family. And it was mind-blowing to finally, finally talk to another person who had the same disease as me. It really felt like coming home, like meeting a brother. On the level of physical appearance, I could easily find remarkable resemblances between him and me. And the way we sat, moved, and spoke. It felt almost eerie.

Since then I have come in contact with a lot of other people connected to Joubert Syndrome. I haven’t talked to any other person who themselves have the disease, the people I have talked to are mostly mothers to children with the disease. I feel that if I can give hope to parents with young kids with Joubert Syndrome and show them possibilities of how life can be at my age, I must do whatever I can. The medical documentation one can find on the Internet about Joubert Syndrome is, to make an understatement, grim. I wish to be a counterpoint to that information, and I know I have been. I love that I now have a family besides my own family in which I can give and get support and feel that recognition I talked about earlier.

I still wonder what is best: to have a rare disease or to have a common disease. That’s a difficult question. On one hand, by having a common disease there’s a wealth of information and research that can help you overcome your difficulties, but on the other hand there is a kind of freedom to have a rare disease, in that one doesn’t get put in a set category of how life will be. Personally, I am very glad to have met someone else with the same disease, that meeting showed me I am not alone. Also, I find it very intriguing to have a specific kind of series of gene mutations not so many have. I feel special, in a good way. And I feel a responsibility to live my life the way I want to.

2 reaktioner till “Living with a rare disease”

  1. Hei:-)
    Så fint å lese om deg, og at du har det så bra:-)
    Vi er fra Norge og jeg har også en sønn med joubert syndrom, han er 2 år gammel og er helt fantastisk:-) men han sliter med det motoriske og med å styre øynene sine. Han kommer seg nå fremover på gulvet på rumpen. Hans gene mutasjon er genet som kalles C5orf42. Har du hørt om det genet før? Kan jeg spørre om hvilken gen du har mutasjon i? Jeg ble veldig nysgjerrig. Hvor gammel er du?
    For oss er det en veldig usikkerhet om hvordan livet vil bli for han, om han kan gå på vanlig skole eller ikke. Det er mye å tenke på. Det er så store forskjeller i dette syndromet.
    Har du fått på vanlig skole, og når begynte du å gå?
    Hadde blitt veldig takknemlig for svar:-)

    Vennlig hilsen