Announcements

Cystinosis Awareness Givewaway

New for 2019!

Spread cystinosis awareness on Rare Disease Day, Cystinosis Awareness Day and all year long!

We've transformed the cystinosis awareness ribbon into a temporary tattoo. Now you can "wear your rare" and help start important conversations.

Once your temporary tattoo arrives, start sharing! Post it for the world to see. if you are on social media, tag your ribbon photo with #mycystinosis to educate others about cystinosis and what it means to you (the good, the bad, and sometimes the ugly). Your post could help another family or individual trying to manage daily life with a rare disease.

CystinosisRibbon ChandlersChance

Did you know? Our awareness ribbon was inspired by a structure standing 12 foot (3.66m) tall. It was thoughtfully created containing 2,000 green lights, one light for each person living with cystinosis. The outline of white lights represents those who have passed but remain part of who we are today. Now, this symbol of strength has been transformed into a temporary tattoo ready to travel the globe spreading awareness, education, support and love for our cystinosis warriors...thanks to you!

I'd like a free cystinosis temporary tattoo!

Please complete the form below. We ship internationally.

If you have questions or know someone who'd like one, email This email address is being protected from spambots. You need JavaScript enabled to view it..

Cystinosis Awareness Giveaway (temporary tattoo)

*Required Fields
Last Name (*)
Please provide your last name
Email Validation (*)
Invalid Input
Address #2
Invalid Input
State/Province/Region
Invalid Input
Country (*)
Invalid Input

First Name (*)
Please provide your first name
Email (*)
Please provide your email
Address #1 (*)
Invalid Input
City (*)
Invalid Input
Zip/Postal (*)
Invalid Input
Enter Code (*) Enter Code
Invalid Input

Discover other ways to Get Involved.

Cystinosis Ireland Research Opportunities 2019

Cystinosis Ireland Research Funding Opportunities 2019

a. Cystinosis Ireland Seedcorn Funding 2019

The Cystinosis Ireland Seedcorn Funding scheme aims to provide researchers with the opportunity to generate solid preliminary data which would contribute to a larger, sustainable, longer-term application for funding.

Researchers that are new to the field of cystinosis are particularly welcome. We also welcome applications from researchers from scientific fields other than Biosciences and Clinical Sciences where there the potential impact or application of the proposed research is relevant to patients and families living with cystinosis. This includes scientists in social sciences, engineering and other disciplines.

We are particularly open to new, high-risk, blue-sky applications and will consider these favourably (Applicants should highlight this in their application).

In particular, this seedcorn fund may be used to develop highly competitive research proposals that are suitable for submitting to a future MRCG-HRB co-funding call (see below: open for applications in September 2019)

Although typical projects funded tend to be in the region of €10,000, the Cystinosis Executive will consider applications that are for more than this (even substantially more) where the project is well justified and is relevant to patients and families living with cystinosis. All research proposals are subject to peer review.

MAXIMUM FUNDING AVAILABLE: €10,000 per project (more where justified)
DURATION OF PROJECTS: 2-6 months (longer where justified)
CLOSING DATE FOR APPLICATIONS: 1 April 2019; 2 August 2019; 29 November 2018.

Please note that this funding scheme supports researchers and research activity based outside of Ireland.

Researchers interested in this scheme should email This email address is being protected from spambots. You need JavaScript enabled to view it. for an application form and to discuss any potential applications.

MRCG-HRB co-funding scheme 2019

Cystinosis Ireland is very interested in supporting high quality research proposals to the MRCG HRB co-funding scheme. The next call for proposals is expected to open in September 2019.

Cystinosis Ireland has a strong track record of supporting research proposals for funding through this co-funding scheme and currently has two active projects underway.

MRCG HRB awards are typically in the region of €100,000 per annum for up to 3 years.

Cystinosis Ireland encourages researchers who might consider applying to this scheme to also look at the Cystinosis Ireland seedcorn fund as a mechanism to generate preliminary results and to improve the competitiveness of a potential proposal to the MRCG-HRB co-fund scheme.

Please note that this funding scheme supports researchers and research activity based outside of Ireland.

We encourage researchers to contact us at This email address is being protected from spambots. You need JavaScript enabled to view it. at any time in order to discuss your research ideas to see if it might be suitable for this funding scheme.

Background to Cystinosis and Cystinosis Ireland

Cystinosis is a rare genetic disease that causes the amino acid cystine to accumulate in the body due to mutations in the CTNS gene. Cystinosis is classified as an ‘orphan disease’ by EURODIS - Rare Diseases Europe.

It is estimated that there are approximately 2,000 people worldwide diagnosed with cystinosis. As of May 2017, there are a total of 21 confirmed diagnoses of cystinosis in Ireland.

The severest form, infantile nephropathic cystinosis, causes kidney failure before the age of 10. Treatment is currently limited to cysteamine a cystine depleting drug which slows but does not cure the progression of the disease. All of those diagnosed in Ireland have infantile nephropathic cystinosis. Cystinosis Ireland was founded in 2003 as an Irish registered charity. It was created by volunteers – family members and family friends of those living with cystinosis. Its purpose is dedicated to raising money to fund research into cystinosis in Ireland and all over the world.

Cystinosis Ireland works closely with Temple Street Children’s Hospital and Beaumont Hospital in Dublin as well as with the Great Ormond Street Hospital in London. Cystinosis Ireland also maintains partnerships with other cystinosis charities abroad including; The Cystinosis Foundation UK, the Cystinosis Research Foundation (CRF) in Irvine, California, USA, the Cystinosis Research Network (CRN) in Lake Forest, Illinois, US and the Canadian foundation - Cystinosis Awareness Research Effort (CARE). Through these partnerships, we share research findings, discuss drug access programmes, review challenges being faced by the greater community and work towards finding a cure. Cystinosis Ireland is also an active member of the Cystinosis Network Europe and EURORDIS, the European rare disease patient group alliance.

Research areas of interest

Since its foundation, Cystinosis Ireland has supported research projects to the value of €1.9 million in areas of cystinosis research aimed at better understanding this disease, developing better treatment options and ultimately seeking a cure. In this context, Cystinosis Ireland has worked with the Irish Health Research Board (through the MRCG-HRB co-funding scheme) and it has also developed its own seedcorn funding scheme (see below for more information).

Examples of research projects that Cystinosis Ireland has supported include:

  • Drug eluting contact lenses for cystinosis therapy.
  • Developing human stem cell models for cystinosis and therapeutic potential of aspartate.
  • Unravelling the mechanisms of azoospermia and potential future treaments in Male cystinosis treatments.
  • Targeting autophagy in nephropathic cystinosis.

In addition to these areas, Cystinosis Ireland is also particularly interested in the following research topics:

  1. Side effects of cysteamine - halitosis and body odour become major issues as children age and this interferes with the level of adherence to cysteamine. It also causes major psychological issues. Work had been done on developing new compounds but something that would work with cysteamine would be very welcome. Concern about other side effects of cysteamine – for example, Ehler Danlos-type symptoms, collagen issues and subsequent death in one patient. What other effects is it having that we don't know about?
  2. Muscle weakness - swallowing problems have led to aspiration and death in some patients plus weakness in other muscles such as hands, legs, arms. Even patients who adhere well to their drug therapy have these issues. Is it caused by cysteamine and/or the cystinosis disease?
  3. Bone Issues, including knock knees, which occur in most children whatever level of drug therapy adherence; spontaneous fractures and weak bones. Nearly all children have flat feet/fallen arches. These are in children who are well maintained on vitamin D, calcium etc and who have had diagnosis at birth.
  4. In early childhood, not eating is a major issue. Most children need a g-tube for feeding after diagnosis. There's a question as to whether the cysteamine treatment of the cystinosis itself is the main reason for lack of appetite/not eating. A lack of eating has knock-on effects for life.
  5. Developing models of care transition from childhood care to adult care in the health service.
  6. Examining the social impacts of long-term childhood disease and also the impacts of treatment(s) on patient lives.

In addition to the above, Cystinosis Ireland strongly encourages researchers that are new to cystinosis to contact us.

We welcome applications from researchers from scientific fields other than Biosciences and Clinical Sciences where there the potential impact or application of the proposed research is relevant to patients and families living with cystinosis. This includes scientists in social sciences, engineering and other disciplines.

We are particularly open to new, high-risk, blue-sky applications.

National Academy of Medicine Elects New Members

Cystinosis expert, Dr. William Gahl Among Distinguished Inductees

Extracted from National Academy of Medicine. Access full article here.

The National Academy of Medicine (NAM) today announced the election of 75 regular members and 10 international members during its annual meeting. Election to the Academy is considered one of the highest honors in the fields of health and medicine and recognizes individuals who have demonstrated outstanding professional achievement and commitment to service.

"This distinguished and diverse class of new members is a truly remarkable set of scholars and leaders whose impressive work has advanced science, improved health, and made the world a better place for everyone," said National Academy of Medicine President Victor J. Dzau. "Their expertise in science, medicine, health, and policy in the U.S. and around the globe will help our organization address today’s most pressing health challenges and inform the future of health and health care. It is my privilege to welcome these esteemed individuals to the National Academy of Medicine."

Among the newly elected U.S. members of the National Academy of Medicine:

William A. Gahl, M.D., Ph.D., senior investigator, Medical Genetics Branch, and clinical director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.

For contributions that include creating the Undiagnosed Diseases Program within intramural NIH to meld individualized patient care with next-generation sequencing and to provide insights into new mechanisms of disease; spearheading expansion to the national Undiagnosed Diseases Network and the Undiagnosed Disease Network International; and championing the sharing of genetic databases and best practices.

Results: First Annual Cystinosis Awareness Day

This was the first year our community celebrated Cystinosis Awareness Day on May 7th (5/7). This date was chosen to represent the most common cystinosis mutation: 57-kb deletion. Due to the overwhelming amount of love, well wishes and contributions received, the events tied to this day were a resounding success.

AWARENESS + EDUCATION

  • Over 25,000 people reached online. Cystinosis facts shared, Facebook profiles updated with the awareness ribbon and more contributed to this number.

DONATIONS

  • 100+ donors.
  • More than $21,000 raised for cystinosis research.

awareness day1

Two special fundraisers were created to honor Cystinosis Awareness Day. Follow the links to see how our walkers and hikers faired during their ambitious journeys:

57 Miles for Cystinosis, Clinton’s Journey Journal

Hikes of Hope with Jessica

On behalf of the individuals and loved ones impacted by cystinosis, we send our heartfelt gratitude and look forward to expanding the impact we can make in 2019. Sign up for the task force by emailing Clinton at This email address is being protected from spambots. You need JavaScript enabled to view it..

57 Miles for Cystinosis, Clinton’s Journey Journal

By Clinton Moore

This 57- mile walk was inspired by a movie called the Ataxian. I watched it during Rare Disease Week in Washington D.C. back in February. While watching the film, my mind drifted to thinking about what could I do on the extreme side for the cystinosis community. Two other walkers pledged to endure the entire 57 miles with me. Both good friends, Cody Collins and Elaine Hyler. Other people will be joining for a part of the journey too. We feel good...we are ready. It's time to walk all over cystinosis.

starting line

Clinton, Chandler and Elaine Hyler are ready to begin the 57-Mile walk for cystinosis.

11:40 AM We are off to a late start, but the gang is all here, and we are ready to go. The current plan…to pound as many miles as we can...as fast as we can.

2:00 PM Before beginning the walk, I agreed to complete some “dares” during the race. Kind (or perhaps cruel) donors, provided CRN with $50 donations to see the dares come to life. A little while ago I got a taste of the first dare – dressing like a baby – I wore a diaper and sucked a pacifier for an entire mile! I may be starting to regret this part of the commitment.

RareDare BabyClint

For a $50 donation to CRN Clint and team walked a mile in a diaper with a pacifier. Rare dare #1.

4:00 PM It looks like we are averaging three miles an hour which should put us at 57 miles around noon tomorrow.

6:00 PM We are over 15 miles in, and Annie and Chandler have informed me there is a coconut bra and grass skirt with my name on it. This should be cute. Overall everyone is holding up good so far. Spirits are high.

RareDare Hawaiian

Another Rare Dare for a $50 donation to CRN found Clinton walking a mile in a grass skirt and coconut bra.

8:00 PM Just got word that burgers are waiting for us at our next checkpoint...which will be great. There is a 3-legged dare just before sunset. At this last rest stop people started bending over and grabbing their knees to rest – perhaps fatigue is setting in? Also, we just got word that downpours are imminent. Along with almost guaranteed thunderstorms.

10:00 PM We are now under a tornado watch until 1 am. At around 10:30 pm we had to take cover under a pavilion, but the rain will not dampen our efforts. This storm is severe. Heavy lightning and thunder, downpours, and high winds. We found a large enough area to continue walking after moving a dozen or so picnic tables. There are a few other people also taking cover under the pavilion. It looks like they are playing a card game of some sort. We are doing our best not to get soaked as temperatures are plummeting.

1:00 AM The pavilion was our safe place for the last three hours. However, it is getting late, everyone looks and feels exhausted and those small circles and constant left turns are enough to drive anyone bonkers. So we moved on. Nate joined the walk. It is now 60 degrees! Who’s making fun of my jeans now?

3:00 AM Cody has just informed me he cannot go on. He gave it 100% effort. He’s been struggling for the past couple hours with foot pain.

3:30 AM Elaine just told me she must lay down. She cannot go on either. She is also experiencing foot pain. I have Nate and his legs are still fresh.

4:30 AM The internal struggle begins. The thoughts of... ‘I can’t do it, and I won’t do it again’ are haunting me. Should I make a change in trail? This road is beating me up. The large rocks are terrible on my feet. I just stare at the road. It looks no different than the sky. Dark. All outside communication has stopped. No texts. No calls. No Facebook notifications. It’s quiet. Too quiet. Everyone is asleep as they should be. My own mental demons are telling me to quit. I feel defeated and alone. I am exhausted. I grabbed some snacks in hopes of an energy boost, but it doesn’t seem to be working. I’m pretty sure I just swallowed a bug. Even Nate and I are barely talking. The mental fatigue at this point is out weighing the physical by far.

6:00 AM The sun is back and it’s like a breath of fresh air. We made a trail change to ease the walking efforts. There is storm damage everywhere.

OneMan57Miles

8:00 AM Less than 13 miles to go… Just got a text from Clair. She has coffee and a bagel waiting for us.

11:00 AM Here we go – a rare dare to make a rap song to include Elijah (Emily Mello’s son). Our group came up with it together and I was happy to nail it on the first take! We wanted to be finished during this hour. Watching those minutes tick by, and having the finish line beyond my viewpoint are a blow, but we keep moving.

1:00 PM There are 1.7 miles left. The original plan had us finishing at the end of this loop, but staying true to ourselves, we were a bit short due to some of the improvisations we had to make.

LastLap

Almost there! The last lap.

1:30 PM Our 57- mile mission is complete! WOW – the emotions! Family and friends met us at the end and this journey has left each of us with tears in our eyes. This was beyond tougher than I thought. I completed over 400 miles of training walks that helped but the mental stress was extreme. That being said, I would gladly endure this again as well as much more for this community.

57MileWalkers FinishLine

Mission accomplished! The 57-mile walk for cystinosis is complete. Thank you to Clinton and his team, Cody Collins, Clint and Chandler Moore, Elaine Hyler and Nate Roberts.

You can check out videos from the journey on our Facebook page: facebook.com/CystinosisResearch. We are currently putting together a task force for the 2019 Cystinosis Awareness Day and determining how to expand on the success of 57 Miles for Cystinosis. Email me if you would like to be a part of these events at This email address is being protected from spambots. You need JavaScript enabled to view it..

UPDATE: Clinton’s team had a fundraising goal of $10,000. At the end of the 57 mile walk they had exceeded their goal.

Hikes of Hope

With Jessica Jondle

The following posts were originally posted by Jessica via her Classy fundraising page and the Hikes for Hope Facebook event.

Setting out on “A Hike of Hope” to raise money for cystinosis research. Happy Isles (~4000 ft) to Clouds Rest (~9900 ft).

I was diagnosed with cystinosis in 1983, just as cysteamine therapy was in the clinical trial stages. After two years of hemodialysis, I received a deceased donor kidney transplant on August 12, 1999.

In 2011, I learned that cystinosis was taking a toll on my pulmonary function due to muscle wasting in the diaphragm and esophageal musculature. That's when (and why) I started hiking at high elevations. I've made some progress with my lungs, but I know I must be relentless because cystinosis certainly is.

I have one copy of the common 57-kb deletion in the CTNS gene. It's ironic that this deletion, designed to take something away from me, has actually given me so much more than I could ever have imagined.

Let’s Get Started

  • Setting out around 11pm tonight! Wayne is being amazing and hiking with me until sunrise because I'm afraid of bears. Thank you to all who donated to CRN.
  • Not the greatest looking sky out there right now according to this webcam. Clouds Rest is the highest point near the top center of the photo, behind Half Dome. Right now, predictions of thunder are limited to tomorrow after 11am, which is fine. But you don't go up to high, treeless places when there's thunder - so if the forecast changes the schedule might need to as well.

HoH Sky 710

  • Elevation at the start

StarElevation 3937

  • 5am

5am 6040

  • Past Half Dome and finally on Clouds Rest Trail

7050

  • Clouds Rest is just 3.8 of the hardest miles ever away. Cystinosis bracelet courtesy Clinton Moore, who is well into his own trek by now.

I don’t know if I’ll make it in time - I know thunder snow is in the forecast - but I just sat down and bawled. I wasn’t supposed to do any of this. I wasn’t supposed to be here. I’m here because of research that came into being right around the time I did. I have had so many friends die. I can’t even tell you. I have survivor’s guilt and while I know God has a plan for me, he has plans for all of us and sometimes I wish they were different.

Thank you for supporting life-saving research. My hope is that children with cystinosis who form friendships with each other at gatherings now grow old together. Have decades-long friendships.

Am I stalling? Yes, of course. I know there are 2500 feet of elevation gain in these 3.8 miles. And I’ve been to Clouds Rest - albeit from a much higher trailhead (Tenaya Lake) - so this just felt a little more important.

Fight on.

CloudsRest

  • Here’s elevation from over an hour ago. I’ve been trying to post but reception is spotty. My altimeter spins and won’t settle now. Judging by my topo and switchback position I think I may be at 8800? But to be honest, it could be lower. I intended to be out here 24 hours. I think I’m still ok since I’m faster going down.

8215

  • I’ve had to start making my way down, because I didn’t make it in time and Clouds Rest is now socked in. If I’m honest, I’m also exhausted. So I went from just over 3900 feet to just under 9100 feet and got within a mile of my destination. A 24-hour hike, yes(most likely by the time I get out), a 5700-foot gain, no. I am so disappointed for so many reasons.

I hope I did enough to embrace the intent of why you donated: to break down the limitations cystinosis dictates, either through research or through encouragement.

  • Finished. Exhausted. Ready to head home. Wanting to wrap everything in Icy Hot patches. Already planning to get those last 500 feet via the standard trail.

UPDATE: Jessica exceeded her fundraising goal of $570. Through these efforts she raised over $800 for cystinosis research and important awareness for this rare disease.

logo

CRN Newsletter Signup - Popup
  1. Stay up-to-date with the latest information from the Cystinosis Research Network by joining our email list.

  2. First Name
    Invalid Input
  3. Last Name
    Invalid Input
  4. You must enter a valid email.