Announcements

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.

Dad-to-Dad. A Father’s Day Message

From Clinton Moore

Often, fathers are not the main caregiver in the family. The fathers head off to work every day leaving mom to care for their child. This isn’t always the case, but often is. Some may think that while the fathers are away, it gives them a break from the constant care that cystinosis requires. That is far from true. Yes, fathers get a break from the hands on care but the wonder and worry never ceases. Fathers often are working while patiently waiting for a phone call from home to let them know how an appointment went, test results, what the next plan of action is, or maybe just how their child is feeling that day.

Dad2Dad Image

Fathers may also hide their feelings and emotions from the rest of the family. Fathers are looked at as the "strong" one in the family and when he shows fear or worry then everyone is scared and worried. Please know, although they may not show it, fathers are worried, concerned and scared just like everyone else. Fathers often wait until they are alone to let their emotions out. This may be in the form of tears, just sitting and thinking, or maybe punching a wall. Regardless, it will come out.

The Cystinosis Research Network would like to wish all the fathers a very special Happy Father’s Day. We appreciate all that you do for your family and recognize all the sacrifices you have made. We understand and know first-hand that you secretly hurt, and worry and we want you to know that, although silent, we hear your screams. We want you to know that we are here for you in whatever capacity is needed. We’ve got you.

May your day be worry free. Happy Father’s Day!

Cystinosis Awareness Day

This year our community will celebrate the first annual Cystinosis Awareness Day on May 7th. The goal is to educate our family, friends, healthcare teams and general population about cystinosis.

It is estimated that at least 2,000 individuals worldwide have cystinosis, though exact numbers are difficult to obtain because the disease is often undiagnosed and/ or misdiagnosed. Now is the time to improve diagnoses, improve treatments, advocate for our children and ourselves, and become relentless in our mission until a cure becomes a reality.

CAD cystinosis 800/p>

May 7th (5.7) was chosen to represent the most common cystinosis mutation: 57-kb deletion.

Stand with us on May 7th to make a difference in the community. Here’s how:

  • Share Your Rare. Tell your cystinosis story to friends, family, classmates and colleagues. Post on social media and request a free cystinosis ribbon sticker
  • Become a Cystinosis Day Ambassador. With our guidance, U.S. families/individuals will lobby state representatives to pass a resolution declaring May 7th National Cystinosis Day
  • Fundraising. Start your own cystinosis fundraiser or piggyback on an existing Cystinosis Awareness Day event. This can be a walk/run, gala, golf outing, or online donations via your Facebook page
  • Donate. Help support finding a cure for cystinosis by making an online donation or mail a check payable to "Cystinosis Research Network" to Cystinosis Research Network, 302 Whytegate Court, Lake Forest, IL 60045 USA

Email This email address is being protected from spambots. You need JavaScript enabled to view it. to get started. For additional ways to make an impact, visit our Get Involved page.

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