It’s
very daunting when a member of your family is diagnosed with a rare disease,
Something that there isn’t much awareness of, or research about can be really
frustrating for you.
That’s how we felt when my partner
of 10 years was diagnosed with X – Linked Adrenomyleneuropathy (AMN) Yep, it’s
a mouthful right? We weren’t even told during n appointment, we were sent a
letter from the neurologist, and discharged from his services because he wasn’t
a specialist in it.
I then done something that no one
should ever do when in a situation like mine. I hit GOOGLE. And I really
shouldn’t have. It took me to the very worst-case scenario and made me so
anxious that I didn’t even tell my partner what this diagnosis meant.
We then had to wait for another team
of specialists to pick up his case and explain this to us. My anxiety
skyrocketed.
AMN is a neurological disease that
affects the organs below the waist, The nerve endings protecting the spinal
cord were disintegrating making it difficult for the brain to send messages
down the spinal cord. In effect, it was stopping his legs from working properly
and causing him severe pain. His mobility and balance and quality of life have
been severely affected.
This genetic condition is so rare,
that even the geneticists and neurological team are working on experience
rather than facts, because there is little evidence of what works, or
treatments plans available. Each person that is affected by this is completely
different. It isn’t textbook stuff and so the medications used to treat his
pain, or balance is trailed and discarded at an alarming rate. Thus far he has
been through about 6-7 medications with little or no benefit. Because the pain
is neurological there really isn’t a huge amount of options, and we are nearing
the end of possibilities to help him have a better quality of life.
As if this isn’t enough, our
children are also diagnosed with autism and ADHD, Our two girls are obligate
carriers for X – Linked Adrenoleukodystrophy (ALD) So they are closely
monitored for any changes in their health even though it is considered very
rare for girls in childhood to show symptoms of this debilitating disease.
As the whole family seems to be hit
by some kind of genetic abnormalities we have been referred for the 100,000
genomes project, a study funded by the NHS that recruits 70,000 patients of
rare diseases and cancers to have their whole genomes decoded and analysed to
find specific gene mutations. This study is the first and largest of its kind
in the whole world, and could ave the way for future diagnoses and treatments
of people with rare diseases and cancers and those who are simply named SWAN
(Syndrome Without A Name)
I feel privileged to be a part
of the part of the future in this study and hopefully one day there will be
more research and text book information on the rare disease that my partner sufferers
with so that it can help enable people like him to have a better quality of
life.
If you are taking part in the
100,000 genomes project then please join the FB Support group
I can sympathise with your partner having a rare disease myself that effect the myelin on the spine. (PERM) neurological pain is hard to describe and even harder to get rid of :( Id not heard of the 100,000 genome project though, that sounds good. My daughter has just had genetic testing for another rare condition, but I'm not speculating until we get the results xx
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