A message to parents on Rare Disease Day.

This post is for Rare Disease Day - 28 February each year.

From the website:

"The Rare Disease Day 2015 theme Living with a Rare Disease pays tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients."

This is my letter to parents of children with Ichthyosis. Ichthyosis is a very rare condition - affecting 20 people per million. It's no wonder parents are not informed about the condition until their child has it. And subsequently, so often I see their words of desperation, and of guilt. I hope my letter will offer some advice, comfort and reassurance to them. And you can substitute any rare condition for Ichthyosis. This is just the condition I know. 

I have a lot to say about cures, which are often sought for rare diseases - and while I've omitted my thoughts from this letter, I have written about it for Daily Life.

And this letter is as much for my parents as it is to all the other parents out there. Much of the advice I wrote in my letter is based on my parents' positive behaviour.

Dear parents,

I know your world has been turned upside down with this diagnosis - the great unknown. It's a whole new world with ointments, infection risks, weight gain difficulties, pain and skin. So much skin.

Maybe you're grieving a life lost - and that's expected, that's ok. But a life hasn't been lost. That little life you have in your arms is a new challenge, but also a life full of happiness, fun and achievements to be celebrated. As an adult patient with Ichthyosis, I want to tell you that things will be hard. But things will be ok. Good or great in fact. And who knows what life will bring - for any of us - but I recommend taking things one day at a time.

Please never to blame yourself for your child's genetic condition. You don't need that added stress. They don't either. You probably didn't even know you carried the gene. Don't ever blame yourself. I have never blamed or resented my parents for passing on the gene. It's not something they could control. People ask me if I am angry at my parents - and I am always saddened by this question. No. They did the best they could when an unexpectedly unwell baby came into their lives.

Maybe your child's diagnosis was made sometime after birth? I guess life doesn't have to change or get harder with this diagnosis - because you and your children have not known any different, and this diagnosis is just a word. It's not defining or a curse. What it does mean for you is that you can get some treatments specific to the condition, which might be a big help.

People will stare and make comments. Sometimes their comments will be rude. Don't take these as a reflection on your child's appearance or on your parenting. They're a reflection on the person staring and making the comments. You can give them an explanation, but you don't even owe them that. It will be tiring, and you will get frustrated. But sometimes the curious (polite) encounters will spark up an interesting conversation, and maybe even be the start of a wonderful friendship.

If you are struggling with guilt or feeling overwhelmed with the daily treatment regime, see a counsellor - it's good to talk to someone.

And on the topic of talking to someone - emotional support is just as important as medical support for a condition like Ichthyosis. The feelings from isolation and bullying can be as painful as a skin infection. Ensure that you have a team of physical and mental health specialists - for your child and you.

Support groups are fantastic (and something that my parents and I never had until recently). But sometimes they can be overwhelming - full of comparisons of who has it worse, resentment for those who have it 'better', guilting others for their choices to have more children with Ichthyosis (or not),  and all sorts of recommendations. Don't fall into that trap - comparison is the thief of joy. Remember that a treatment that's working for one patient may not work for another, and so don't take treatment recommendations as gospel. Talk to your doctor before trying something new. And listen to other patients with the condition as much as you listen to other parents - after all, we've lived with it and know it firsthand. And never guilt others for our choices or happiness - we're all in this together.

Know that there's more to your child than their condition. They are, or will be, smart and funny and beautiful. I bet your little one is the best thing that happened to you. Encourage them to read widely and talk to lots of different people and to take every opportunity presented to them - even if it means they're (and you're) a little out of their comfort zone. Don't think it will be too hard or impossible because of their skin or the way people may react to it.

Consider the impact of your comments complaints about your child's skin, creams or lengthy care regime. While you might think it's insignificant parental complaining, your child may grow to become very self-conscious of the 'mess' they make because of their skin or creams left on surfaces, or the time you're taking to care for them. Be especially mindful of this if you're complaining online - that's part of their digital footprint too.

Be proud of your child, show them that you're proud, and show others that you're proud of them. That's the best gift that you can give them. When you show your child you're proud, you give them pride.

I wish you and your child all the best. And I thank my Mum and Dad for instilling these values, confidence and pride in me. You are ALL doing a great job.

Much love, 

Carly

Rare Disease Day 2014 - talking accessible services

Sometimes I feel like such a small fish - almost literally, with all of my scales! Ichthyosis affects an estimated 10-20 individuals per million, and there are at least 20 varieties of the condition (source).

It's no wonder I need to explain my condition to so many people I encounter - doctors, nurses, employers, service providers, strangers...

Right now I am trying to work with airlines to explain my cream needs for my international flights. It's so difficult when they've never heard of the condition and cannot fathom why I need to carry nine kilos of paraffin in stowaway luggage, even with a letter from my dermatologist. My experience with some airlines has been so disappointing so far - lengthy phone calls to international call centres (which featured a direct NO to carrying a small jar of cream onto the plane), no direct contact to special needs departments and lengthy forms to complete - it makes me anxious for the inflight service. I don't feel listened to or understood.

Every week I encounter more people affected by Ichthyosis - it seems we're not as alone as we sometimes feel. It's amazing how the internet has connected us rare gems - and we see similarities in our difference.

Today, 28 February, is Rare Disease Day. Its purpose is to raise the awareness about rare diseases and the impacts they have on patients and their families.

From the Rare Disease Day Australia website

"February 28th 2014 marks the 7th annual World Rare Disease Day and the 5th year Australia has been involved in this initiative.

This year’s focus is on improving care for people living with a rare disease addresses problems associated with fighting diseases which affect only a few people in each country. Expertise is scarce and scattered requiring a re-assessment of current treatment options that would result in cross-border cooperation.

Individuals and their families affected by rare disease often feel isolated and lack guidance as to how to best treat or manage the condition.

There are more than 8000 known rare diseases affecting more than two million Australians of which up to 400 000 are children. Most of these diseases are genetic, chronic and debilitating. Reaching out across borders can help individuals find common solutions and help to remind them that they are not alone.

People who are affected by rare diseases should be entitled to have the same treatment, access and quality of care as any other patient. Rare Disease Australia seeks to push for a National Rare Disease Plan to prevent those inflicted “falling through the cracks” of the Australian healthcare system."

Fortunately I've experienced fantastic care from my hospital team, though on occasion I need to explain my medical history to doctors, which does become tiring when I really am sick.

However, I do hope that Rare Disease Day is taken notice of by people in the service industry.

Attitudinal barriers like discrimination and a lack of understanding about rare diseases can make living an every day life difficult - it can be as burdensome as a lack of accessible and quality healthcare. Dealing with taxi companies, airlines, restaurants, support services, government organisations, insurance providers, employers...this list seems endless...is tiring.

There needs to be dedicated special needs departments in service organisations - with direct lines and email addresses. People who work in these special needs departments need to be knowledgable in disability and rare diseases. Forms should be simple - easy to fill out online by doctors and patients and send back to the organisation (none of this print, complete, scan, email to doctor, fax to organisation business). We shouldn't have to keep proving that we have a rare disease if we use a service provider regularly. We need to be listened to, and know that the advice we provide about our own rare disease is taken seriously by service providers. After all, we are the ones who know our conditions best because we live with them.

Those of us with rare diseases should be listened to by service providers, and shouldn't have to jump through hoops to do the things that so many take for granted. We should be entitled to accessible buildings and services. My airline experience is proving to be burdened with red tape - I'd hate to think about how difficult it'd be for people who are unable to advocate for themselves.

Get involved:

You can find out how to get involved in Rare Disease Day here.

Check out the Facebook page and share your story.

Tweet Rare Disease Day Australia.

Visit the American National Organisation of Rare Diseases. .

For more information about Ichthyosis, and to see some important research, visit the Foundation For Ichthyosis and Related Skin Types (FIRST) website.

Tell me about your experiences when trying to explain your rare disease to a service provider?