Daniella Rosher is 24 years old, an avid
reader, and the 6th person in the world to be diagnosed with a very
rare neuromuscular condition, Bag3-Related Myofibrillar
Myopathy. Today, she shares her experiences of a
diagnosis that seemed like fate, and how she manages daily living with a
condition not even medical professionals can reliably explain.
When I was 11
years old, I was diagnosed with a heart disease which resulted in me needing a
heart transplant. It had a lasting effect on me, and the symptoms that came
from that couldn’t be explained by medical professionals. We spent years
looking for a diagnosis that never came.
Being diagnosed by chance
One day, my
neurology doctor was at a conference with lots of other specialists. He got
talking to the doctor next to him about various cases they seen, and the other
doctor happened to mention a very rare condition, one that was so unknown that
it had only been officially ‘discovered’ the year before. My doctor thought the
patient he described sounded remarkably like me, so he came home and arranged
the necessary tests. He was right, and I was the sixth person in the world to
be diagnosed with the condition.
Living with a rare condition
I was still
quite young at this point, around 15 years old, and it was quite a lot to come
to terms with. There was nobody else who had what I had, and it felt like
nobody could relate to what I was experiencing. Sometimes I’d have symptoms but
not know whether they were symptoms, because there was nobody I could check in
with and ask. You can’t just search online, because the only information on the
internet is full of complex medical terms or research articles.
And at the same
time, I was transitioning from children's to adult care, changing hospitals and
doctors. I no longer had the child paediatrician who diagnosed me. Sometimes I
didn’t know who I was supposed to be seeing about certain things, and it was
easy to feel lost.
Communicating with medical professionals
Having a rare
disease means there can sometimes be barriers to communicating with medical
professionals. Some are great and will go out of their way to listen and learn,
but others would shrug their shoulders and pretend to know more than they did. I’ve
learned to listen to what I’m told critically, and take on the responsibility
of learning about things myself.
Some doctors
just don’t understand, and that can be dangerous. Sometimes in an emergency
when I’m really unwell I’m not able to say ‘don’t do this’ and ‘don’t do that’
and sometimes they’ll prescribe medications I can’t have or do something that
makes me worse.
Battling isolation
Luckily my
family have been really supportive. They were able to learn a lot about my condition,
doing lots of reading about it when I was younger, and can advocate for me when
I need them to. I can look to them for more information about it.
It can be
difficult to live with such a rare condition and know that there aren’t others
around you going through the same thing. But everyone experiences their own
illnesses differently, so it’s difficult to compare what any two people are
going through.
For somebody
who’s recently been diagnosed with a rare disease or syndrome without a name (SWAN),
don’t be afraid to ask questions. You don’t have to pretend to know everything
about a condition that many medical professionals won’t know a great deal about
either. If you want to learn more, just ask. My best advice would be to wing
it… that’s what I do!
You can find more from Daniella on her
blog, The Moon And All the Stars. What do you think of Daniella’s story? Share
your thoughts in the comments below!
