My name is Simon and I suffer from a rare orphan disorder called Ichthyosis, most specifically Atypical Juvenile Pityriasis Rubra Pilaris. It is so rare that it has an occurrence rate of 1 in 8 Million. This condition has very few if no treatments and there are no cures!
I have been living with this condition for 33 years.
My condition is extremely painful. I appear extremely red and scaly. I have developed side effects due to the condition. The first of many is the contraction of my hands. Ie, I cannot straighten my fingers fully and I find manual tasks next to impossible. I also have ectropion which is a condition that causes my bottom eyelids to droop, so I am constantly tearing up, but not crying :D
I also suffer from swelling of the lower legs which is common amongst people with Ichthyosis. Due to this, I am highly prone to lower leg infections. I have been hospitalised due to this several times but thankfully I can now deal with it on my own. I do this by pouring a small amount of bleach into a large bucket mixed with warm water to keep the levels of Staph on my legs under control. I have lots of painful lesions that cover me from head to toe and I would describe this condition as a truly awful thing to deal with. Last but not least it has taken a toll on my life due to depression and not being able to work. It is also very difficult for me to move around as I get awful pain in my feet and lower legs especially.
I have a daily routine which consists of waking up, taking a 20-minute shower, exfoliating and drying off. Then I have to apply a paraffin based moisturiser to 100% of my body. When this job is done I then have to put on old t-shirts and pants as it needs an additional 20 minutes for the cream to sink in. Then I can change into normal clothes and get ready to go out. Later in the day I have a bleach bath for my lower legs, followed by washing my clothes!
In 2012 I found about FIRST (Foundation for Ichthyosis and Related Skin Types) and to be honest I was quite hesitant about attending my first National Family Conference in June 2014.
Although it was extremely tough to raise funds and get over to the USA It was the most amazing and significant couple of days of my life. FIRST have forged relationships with the best medical minds in the USA who's life work it is to crack the code and support Ichthyosis patients as much as they can. At that particular conference, they conducted research. They took my blood and some biopsies. Since my mother was present, they also analysed her blood. At that stage, I did not know exactly what my diagnosis was at all. It was also a wonderful opportunity to meet people from all backgrounds including fellow sufferers. I am in contact and friends with so many of those people today that it makes my life that little bit more positive knowing that I can talk to people who will support me.
I ended up returning to the FIRST National Family Conference (they occur every 2 years) in 2016 in San Diego. Little did I know that the result of that research I took part in in 2014 led the medical experts to sequence my whole genome! This resulted in a scientific, no more doubts diagnosis of Atypical Juvenile Pityriasis Rubra Pilaris.
This is more on why this is such a fantastic opportunity for me
It has been a long journey for me. I use moisturisers by the tubful, I spend most days doing loads and loads of washing, as my clothes become stained by the lotions and potions I use. I generally feel very uncomfortable (physically.) I also spend a lot of time vacuuming dead skin flakes that fall of my body as my condition causes shedding at 10X the rate of normal individuals.
This condition IS SHOCKING, however, I seek any and all positives that I can find in my life and from Friday, June 29, 2018 - Sunday, July 1, 2018, I am really hoping to find my way to Nashville Tennessee for my 3rd Conference.
These conferences have brought so much positivity in my life that it is somewhat of a respite for me and a chance to meet more people.
I am planning to travel to the conference in Nashville, then on to Philadelphia, where at Thomas Jefferson University there is the only PRP study going on in the WORLD. This study is being carried out by Dr Jouni Uitto.
From there I need to visit YALE University to visit Dr Keith Choate, where he has a laboratory that is solely dedicated to people with Ichthyosis. I saw him there at YALE in Connecticut in 2014 where I had a long session with him. He has been part of my "team" in Australia ever since. After that, I would like to Visit Northwestern University in Chicago to speak to and meet with Dr Amy Paller, who is head of Dermatology there. She is also part of my team. Drs Paller and Choate are the 2 doctors that made my genetic discovery. I am not sure which order I will visit these places yet. It all comes down to how much money I can raise.
I am trying to raise $15,000 - $18,000 AUD which will be used for the following:
Air Travel - It is so difficult for me to fly long distances and I am at high risk of DVT so I need to travel in relative comfort. I will also need money to travel internally inside the USA. It is also highly likely that I will need extra baggage allowance as I have to travel with my medications and 2-3 weeks of 500mg jars of ointment and extra clothes used after I apply the cream on. Also, when you register for the conference the foundation gives you a rather large and heavy sample bag.
Accommodation - It is crucial that I find accommodation that has washing facilities so that I don't have to travel far and waste time and energy doing my washing.
I plan to be away for between 2-3 weeks. It takes me more time than others to move around, especially in the summer.
I thank you all for your participating in my Journey. I have already had 2 unforgettable, positive experiences and hopefully, I won't miss out on this wonderful opportunity.
I also urge you to have a close look at the web links, as it will allow potential donors to accumulate a better understanding of what it is I am going through for the past 33 and a bit years!
Any additional funds that are raised through this campaign will be used for future conference attendance.
- Romy Zyngier
- Daniel Glick
- Lisa Burrows
- Cat and andy Nelsson
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