Helene Hughes’ Family’s Rare Kidney Disease Story

Helene’s Dad, Pat Harte, in his office at IBM in 1975

My family’s UMOD Kidney Disease story starts in 1975 with a clinical research study for hypertension and the discovery that the renin-angiotensin-aldosterone system is a series of reactions designed to help regulate blood pressure. Renin aldosterone hormones are produced in the kidneys for regulating hypertension. My forward-thinking father got involved with the “leading edge of medicine” as he used to say at the age of 45. He was very willing to participate in clinical trials. He knew if he participated, he would help others. He worked for IBM and the company required their employees to get a full health screening in their 40’s. He went to Columbia Presbyterian Hospital in NY for this checkup and learned he had hypertension. The doctors also found that he had one normal size kidney and one smaller one, and three small tubes going into the larger kidney and two coming out. But his kidneys were working well enough. The doctors were focused on his hypertension and the relationship with kidney disease.

My dad joined a clinical research study for hypertension headed by Dr. John Laragh at Cornell-Weill NY Hospital. Dr. Laragh was in the beginning stages of understanding the Renin-Angiotensin-Aldosterone System in the kidneys to help regulate blood pressure. My father was a perfect clinical trial patient because he carefully followed the doctor’s directions. IBM was also forward-thinking because they gave Dad paid time off to participate. This clinical research brought Captopril, (precursor to Lisinopril) Norvasc (generic is Amlodipine) and Tenormin (generic is Atenolol) to the FDA and they were approved! The best part is that most of his own family members, including me, take two of these drugs for our hypertension! Thank you, DAD, for making a difference. He was a great father to us, too. We miss his spirit and wisdom every day.

By 1992 Dad was on peritoneal dialysis for a couple of years until he got peritonitis. He was on hemodialysis for a short time until an excellent cadaver match came through at Columbia Presbyterian Hospital in NY. The cadaver donor was a 40-year-old man from New York who died of a cerebral aneurysm. A few years later a Columbia transplant center connected us with his wife. This fine man helped 16 people live longer by donating his organs. When Dad met his donor’s wife, he just held her hand and wept with gratitude for her husband’s gift of life to him.

In 1994 Dad had his transplant at age 64. Dad was strong, courageous and a model patient. This transplant allowed this superb human being a healthier and longer life. Dad’s kidney lasted 15.5 years! He died at age 80.5 in 2011. His children will go through this same plight. Six out of seven of Dad’s children and two of his grandchildren have the UMOD mutation. They are my sons, my only 2 children.

We know that we can be the same strong patients. We can also all help bring the promising medicine forward. There is a compound being worked on that will delay the progress of the disease. It is designed to stop the mutation from getting into the kidney to destroy it. You can help by being an ambassador and clinical trial study patient. Please help yourselves and your family to live healthier and longer lives.

Some of my family members are in stage four and I am in end stage renal failure now. Since December 2021 our first cousin, age 60, who has UMOD, is the first family member on peritoneal dialysis. He is doing well. His father was my father’s younger brother, who died from hypertension and a cerebral aneurysm at age 35 in 1975. He died too young for us to learn any more information about his health.

I am now on peritoneal dialysis as well. I started in February 2024 at age 64. I have a living donor getting evaluated to donate a working kidney to me. If she is healthy enough, my transplant will take place in June 2024. I am so grateful and have great hope to live a longer life. I am also grateful that dialysis is available to me now when I need it.

I decided to join the RKDF team to learn more and to spread the word. I am so proud to help RKDF and be involved with one of the leading edges of medicine today. I hope to be a research study patient for ADTKD. Please consider being a research study patient in any upcoming clinical trials with Dr. Greka and Dr. Bleyer. So far, I serve as an ambassador and leadership team member with RKDF.

RKDF has held Summits since 2019. The first day of the Summit is focused on science and treatments of ADTKD. The next day is a family information meeting and discussion with the families. Some of the family members of RKDF have been to the Broad Institute labs, in person, in Cambridge, MA. We met the actual scientists who do the research; they showed us their work and explained their lab’s state of the art robots and machinery and explained their petri dishes with kidney organelles. The work is very interesting and presently there is a promising treatment for UMOD and MUC 1 patients. It is now in the stages before it is tested in humans. Please at least find out about serving as a clinical research patient. You can also be an ambassador.

Please join us and participate and learn more. And trust there will be a treatment soon! We hope our children will benefit from a treatment that was initiated at Broad Institute and currently in development by a biotech company!

RARE KIDNEY DISEASE FOUNDATION