RKDF National Scientific Advisory Board

The Rare Kidney Disease Foundation is proud to announce its Scientific Advisory Board

  • Dr. Anna Greka, Chair - Broad Institute of MIT & Harvard

  • Dr. Anthony Bleyer - Wake Forest Medical Center

  • Dr. Peter Harris - Mayo Clinic

  • Dr. Theodore Steinman - Beth Israel Medical Center/ Harvard

  • Paul Conway - National Institutes of Health and American Association of Kidney Patients

The Advisory Board will assist the RKDF Board in achieving its Strategic Plan when possible, ensure alignment with the founding organization's top priority of finding undiagnosed patients for the Wake Forest Registry, and add their credibility by making introductions to the nephrology and medical communities. They will meet annually or as needed.

Dr. Anna Greka @ TED2023

Dr. Anna Greka discusses the world’s rarest diseases and how they impact families around the world. Dr. Greka’s talk has critical significance in our quest to find a treatment for ADTKD, something which all of us at the Rare Kidney Disease Foundation continue to strive for every single day.

Watch the video here and feel free to leave a comment and share: https://www.ted.com/talks/anna_greka_the_world_s_rarest_diseases_and_how_they_impact_everyone

Dr. Anna Greka and Richard Nelson Present at AAKP's National Patient Meeting

It was an honor for us to have Richard Nelson, co-founder of RKDF, present with Dr. Anna Greka of The Broad Institute at the National Patient Meeting for the American Association of Kidney Patients (AAKP) on September 24, 2021.

A recording of their session on Rare Diseases and Understanding the Implications of Genetic Testing is available for all to view on AAKP’s YouTube Channel: https://youtu.be/-dmviedyPO0

Living with Rare Kidney Disease: Our Family’s 30-year Search for Answers

Thirty-one years ago, my energy level dropped dramatically and unexpectedly. I was very active, only 38, and the father of 3 young boys, ages 4, 2 and a 6-month old. Through an ultrasound, I was diagnosed with the well-known Polycystic Kidney Disease. In researching my family’s health history for the nephrologist I began questioning:

  1. Why had my father died so young - at age 43?
  2. Why was my father an only child?
  3. And why had he lost his father when he was just five years-old?

For context, my father was my hero and accomplished a great deal in his short life: he was a highly-decorated WWII Marine Corp fighter pilot in the Solomon Islands and Guadalcanal and upon his return from the war achieved his career dream of becoming a surgeon.

As an 11-year old, my dad was bigger than life; I thought he could do anything! Suddenly after practicing as a surgeon for only five years, he passed away at age 43, [9] leaving my angel mother to raise us six children, ages 16 to 3.

For decades, we all had understood that Dad’s death had been the result of a fungal ear infection contracted in the South Pacific which eventually shut down his kidneys. There was never a hint that this was a genetic kidney disease. And yet, upon my kidneys failing, I started asking questions about our family history, even visiting our ancestral cemetery in rural southern Idaho.

Looking back four generations to my great-grandfather, his children and my father, there was a clear trend: many of them died young in their 30s. Clearly the family lore was incorrect and this illness, which I then thought was Polycystic Kidney Disease, had been around for generations.

All of this was overwhelming for both me, just 38, and my young family as I faced the prospect of meeting the same fate as my father and grandfathers. And yet, my personal story would take a very fortunate turn: 27 years ago, after 4 years of waiting and avoiding dialysis, I received a kidney from a 17-year old girl in Upstate New York, who died of a brain aneurysm. It was a rare, six-antigen perfect match. I immediately felt energized upon waking up in the recovery room! Of course back then live donors were exceedingly rare and there were only cadaveric donors for the small pool of 19,000 waiting on the national kidney transplant list. Today nearly 100,000 people are waiting for a kidney transplant for a variety of reasons - this country and the world have never needed your hard work and innovation more.

After my transplant in 1991, it was a lean time for me and my family. This was long before the Affordable Care Act, and I had lost my private medical insurance after my transplant. As a result, I interviewed with the Governor’s Office of Economic Development for an appointment with fantastic medical insurance, but with much lower pay. I wasn’t sure I wanted to abandon the more lucrative private sector but I’ll never forget the morning of the final interview, when my wife Karen suggested with much concern: “you need to be more serious about getting insurance for our family now that we have these three little boys; please go interview and get an offer from this board; and then you can decide if you want the job.” In her view, our little family needed a miracle to ensure we would have great health insurance.

50 people had applied for this governor’s appointment and I could see in the final round they were not interested in hiring me. Recognized I needed to turnaround the dynamics to get an offer, I asked: “Would you like to know the “real reason” I’m interviewing for this position?” This caught their attention. Holding out my hand which was shaking due to the high level of immunosuppressants, I continued, “as you can see my hand is shaking; it’s not because I’m nervous…rather it’s because I had a transplant 3-months ago that causes me to shake. I got pushed off my insurance and am not insurable. Since you have the best insurance in the state -- if you hire me, I’ll do a great job.” That got their attention. Surprisingly, they took empathy on me, as transplants were not at all common, and hired me.

While my initial experience with kidney failure was difficult, it proved to be the best outcome in my family.

Of the six children my parents had, four of us have been afflicted with kidney failure--my brother Doug, the same year I was diagnosed, and my two sisters in the decade that followed. They have all had very difficult experiences, with multiple failed transplants and years of dialysis - and my dear sister Marcia Ann passed away just this past December after being on dialysis for twenty years.

As it became clear that this was a disease that affected our extended family not just me, my older brother Steve called with a challenge.

He said: “You’ve learned a lot about kidney disease but we really don’t know anything about our family’s disease. I want to put you on ‘scholarship’ to go meet the world’s best researchers so our family can help be part of the solution!”

As a result, Steve underwrote my trips to 10 Annual Polycystic Kidney Disease Conferences over the next 15 years. The first was in Scottsdale, AZ in 1994.

I’ll never forget getting on the plane with no clue what to expect. My brother was the visionary and had paid for me to go. My sister had total faith that the family needed me to be there and told me she’d be praying that I would connect with the right experts. I felt a little unequal to the task but felt Absolute Resolve to find answers.

That first day, I optimistically marched to the front of the large room to sit down on the front row and met two distinguished researchers - both internationally renowned thought leaders and clinicians known as the “best researchers in their field”: Dr. Vicente Torres, the driven head of nephrology at the Mayo Clinic; and Dr. Ted Steinman, professor at Harvard Medical School, a globally sought-after clinician and researcher.

At that first conference and in the decade that followed, an abundance of HOPE was restored to my life’s outlook, energy, and ability to affect change on behalf of our family.

I became part of a community of those with the same disease and was able to contribute to the conversation with these remarkable researchers and clinicians. It was through these conferences that we were able to develop the relationships that led our family to the world’s best to be studied: to the Mayo Clinic, Wake Forest, and ultimately here to the Broad Institute.

This all came about by a generous older brother, without this disease, who became the acting patriarch of our family after Dad died and had the foresight to encourage our family to become experts in our disease and become part of the solution. It led me to dedicate more of my time in leadership of the national PKD Foundation and National Kidney Foundation of Utah boards. I was driven, not only by seeing my 3 siblings face debilitating illness in their lives, but by the prospect of my children, nieces and nephews, having to endure the same.

As mentioned, my transplant story highlights the best outcome for this complex and difficult genetic kidney disease. Three of my siblings have had a much more difficult road: My younger sister has had 2 cadaveric transplants and is doing quite well, but has 6 children at risk; my younger brother has had 2 transplants and is again on dialysis after 26 years and now has heart failure - brought on in part from the drugs he took to prevent transplant rejection; my dear older sister, Marcia Ann, has lived the most inspiring life story even though she was on dialysis for 20 years and just died at 71. Her life of suffering tethered to a hemodialysis machine 3 times a week could have been absolutely miserable for her and her family; and yet in spite of her unrelenting physical challenges, she chose to be a light and positive influence. As we celebrated her life of bringing light into many other lives, dear Marcia Ann was all about caring for others and inspiring us to find the “silver lining in life!!” For our family it’s been all about finding Light and Hope.

Three years ago, I was contacted by Dr. Peter Harris, head geneticist at the Mayo Clinic’s Nephrology Department, saying he’d made a mistake about our family’s disease. Someone with his distinguished credentials from Oxford, then recruited to work at the Mayo Clinic in nephrology, doesn’t often make <or admit to> mistakes. During 20-years of actively volunteering in their NIH studies, our family of 4 siblings with this “mutant gene,” along with my 5 children and their 16 cousins gained much hope and confidence that there would be a treatment for our PKD-like disease. Then there was a complete pivot in our pursuit of a treatment and cure.

Dr. Harris had read a paper by Dr. Tony Bleyer, PI at Wake Forest Medical Center, and leading-edge researchers here at the Broad who had published their breakthrough discovery of a complex and ultra-rare disease initially named MUC-1. Since we didn’t have one of the 3 genes defined as PKD, Dr. Harris thought our family disease more closely resembled this newly discovered disease and introduced us to the folks at Wake Forest and the Broad Institute to further our search.

While this community of families with our ultra-rare disease is still extremely small, to us it means so much to finally feel like we are closer to answers than ever before. We are Absolutely Resolved as a family to do whatever it takes to support you in this noble and life-changing effort.

Shortly after connecting with Drs. Greka and Bleyer, the Nelson Family huddled up as a family to talk about the future now that we knew this is going to be a disease that’s going to affect many.

Dr. Greka has been extremely kind and generous with her engagement to our large family! For example at the Nelson Family Reunion in 2016 to help us celebrate our father’s 100th birthday, she put together a 14-minute video and spoke as if she were personally visiting with us at the cabin on the shore of beautiful Bear Lake, in northern Utah. With over 100-family members, she shared her Absolute Resolve of “aggressively pursuing a treatment and cure.

The next day, the reunion moved north 8 miles to the tiny cemetery in St. Charles, Idaho. [25] Our ultra-rare disease was brought into laser focus by visiting 8 Nelson family headstones; it was noted that 4 had died in their 30s: my grandfather Andrew Nelson, two of his siblings and their father Rasmus.

For the first time, that experience brought home the dramatic reality to our 21 collective children of how their health likely will be challenged!

They are the next generation to experience our rare Mucin-1 Kidney Disease - yet fortunately most have a real HOPE for a full and healthy life! Having lived with this rare disease over the past 31 years, our MKD Community should feel Great Hope for a world of growing transplantable kidneys, therapies that can slow or prevent disease progression, and better safety nets with more options for in-home dialysis, not dialysis centers. Thank you for being the brilliant researchers and inventors creating that world!

After 2 decades of unifying and building two substantial tech communities, my advice to create Greater HOPE and Absolute RESOLVE in the 100s of rare disease communities represented here is: “Trusted relationships are everything!”

We have just founded the Rare Kidney Disease Foundation as a result of Dr. Anna Greka’s challenge to the Nelson Family in October to become Patient Advocates for our ultra-rare disease. The Foundation’s purpose is to build trusted relationships to:

  • Find the next 1,000 MKD patients through Technology and Social Media to increase patients to study; and
  • Find new ways to augment the Broad’s superior research to accelerate finding a “treatment and cure” for MKD; and many more rare diseases.

I have been motivated by my dear sister’s suffering on dialysis and death, my 2 struggling siblings and especially my 5 children and their 16 cousins! A principle reason why I recently retired was to further pursue this lifetime cause of playing a role in finding a treatment and cure for MKD. Looking at my 5 children and 4 grandchildren, it’s my Absolute Resolve that they won’t have to endure what my siblings and my father have. As I look at you and your brilliant work, I’m optimistic and confident in a bright future!