Living with rare disease

Written by John Wallace on 19 May 2017 in Comment

An Edinburgh father writes about living with a family with an extremely rare condition

One of a kind - Dave S

What does rare disease mean to you?

To me, rare disease means a mutation called R1016X in a gene called NLRP12 on my son's and wife's 19th chromosome at position 13.

It’s a gene that we all have, but in their case it doesn’t work. 

It means very little answers followed by a whole lot of concern. 


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It means numerous wrong diagnoses until we finally got a diagnosis for my son after 7 years and my wife after 36 years. 

It means they are special – not only because I love them but because globally there are only 26 diagnosed cases and they are the only two in our country.

It means chronic pain and much less peer interaction.  It’s fighting through life for things they need and the things that make them more comfortable, whatever the cost.

Rare means spending a lot more money on medical expenses than the average person. 

It’s about having a glimmer of hope that something might make a difference in your family's life because no one can say for sure either way. 

Rare means speaking to every doctor, nurse and health professional who treat my family knowing that you know more about the disease than they do.

Rare to me accepts spending a lot of time in medical settings and on trains and in taxis because not every city has a doctor that understands rare. 

Rare means we must travel to another country to see their specialists at different hospitals in the same city. 

Rare is a long list of symptoms that, as a parent, you wish you could in some way just sum it all up instead of a mutation nobody has heard of, in a gene no one has heard about. 

Rare means getting parking tickets because your loved one has had a flare up in the shop and you have to get the car and wheelchair immediately and park it outside, no matter what the consequences.

Rare is scary and it’s isolating.  It’s getting up every day and wondering just how much pain my child or my wife have that day and then making plans for the day.

That magnitude of worry is consuming. 

With every breath I take I inhale and exhale their rare condition.

Rare means we cannot plan or really have holidays or weekends away because there could be a flare.

Rare is the dark circles under my eyes, it’s sleepless nights.  Rare is the lack of funds in my bank account, it’s the silence in the air that at times I only hear. It’s the cause of my wrinkles, my white hair and the reason for my constant state of brain fog.

Rare is what comes between my son, my wife and the world, it limits them.  Rare has flipped my world upside down and forever changed me.  It keeps me on my toes, it keeps me searching for answers.

Studying rare has informed me that our disease was only discovered in 2009 even though my wife had been suffering from it since 1977 and my son since 2007.  

Rare means taking expensive drugs that are for other diseases but the debilitating and dangerous side effects of such drugs helps relieve some of the pain when it is at its worst.

Rare finds a way to be acknowledged even during the happiest of moments. 

Rare will keep your eyes posted to every genetic study being done in hopes that maybe, just maybe, today might be the day that someone can help either take away their pain or at the very least lessen it.

Rare has put into perspective just how big this world really is and reminds you that you really are one-of-a-kind. 

Rare is living with uncertainty, rare is trying to add to that last scientific study that was done on your child and wife's mutated gene, because you know that the symptoms list is nowhere near complete. 

Rare is hope, it’s humbling, it will slow you in your tracks. It will change the way you look at the world and science, you realise just how amazing it all is, but how far we still need to go.

Rare makes you realise you knew nothing about the human body because if you had, then you would have realised that some genes cause devastating physical effects for the patients.

To me, rare is my beautiful wife and fun-loving son.  It’s their determination to succeed. It’s their bravery, their generous personality.  It’s their curiosity, it’s the fight in them, their ability to put up with whatever the medical and political world put them through and come out the other end stronger.

Understanding my wife’s and my son’s rare condition is the hardest but the best thing I’ve ever done.

Rare is everything that’s wrong in my life, but at the same time, it’s everything that’s wonderful in my world.

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