Fighting a rare childhood disease with hope

(RNS) – Gurjot “Jo” Kaur is a passionate civil rights lawyer whose intense commitment comes from seeing her working class parents working to provide for their families, seeing her deaf sister facing obstacles in a society not designed for people with disabilities, to see the racism his father endured as a Sikh immigrant wearing a turban.

Jo and I had been friends for a long time. We have long shared experiences of exclusion as growing Sikhs (me in Texas, her in Florida) and, as adults, our dedication to equal rights. We were close enough that she invited me to say a prayer at her wedding. Late one night a few months ago, she called me to tell me that her newborn son, Riaan, had been diagnosed with a rare condition called Cockayne syndrome and the prognosis was not good.

Jo’s passion for defending civil rights evolved into advocating for people with rare diseases, absorbing the value of an encyclopedia of information on inequalities in drug development and our health system. She taught me that it’s parents like her who are forced to fund and push scientific research to develop new treatments. I saw a mother, my friend, fight desperately for the life of her child, using all the skills and resources available to save her son.

I spoke with Jo about her experiences, in the hope that others will be touched by her story. The interview has been edited for clarity and length.

You’ve gone from civil rights lawyer to mom to rare disease advocate. What was this transformation for you?

Gurjot “Jo” Kaur with his son Riaan. Courtesy photo

It has been the hardest and loneliest of my life, because it was born out of necessity, not out of joy or excitement. I chose to be a civil rights lawyer. I chose to be a mom. I didn’t choose to be an advocate for rare diseases, at least not in the same way.

My parents wanted me to become a doctor. I resisted and studied law because I have always hated anything related to medicine or health. I was a fan of words and logic, not of blood and biology. Yet, as soon as we learned that Riaan was suffering from this deadly disease, with no approved treatment, I found solace in science, doing avid research to understand this disease I had never heard of, an answer for save my baby’s life. On the Friday night we were diagnosed, I spent the whole night reading medical journals and emailing scientists.

To my surprise, some responded, and one thing led to another, and three months later we founded the Riaan Research Initiative – the first 501 (c) (3) nonprofit advocacy organization to accelerate the development of treatments for Cockayne syndrome.

How did you use your Sikh faith for support and advice?

As a lawyer who has spent much of her career fighting for the rights of Sikhs, I have often relied on the rich stories of resilience and courage in the life of Guru Gobind Singh Ji, and I have relied on above to relay them, or the revolutionary egalitarian vision and compassion of Guru Nanak Dev Ji. After Riaan’s diagnosis, I found myself looking at the life of Guru Har Krishan Ji, a child himself, who destigmatized the disease, who spent his days helping those suffering from smallpox.

Riaan is almost 2 years old.  Courtesy photo

Riaan is almost 2 years old. Courtesy photo

There are so many other examples in Sikh history of is going (selfless service) to relieve mass suffering, to humanize disabled and / or sick people who gave me fuel to move forward, to lift my head off the pillow.

The course of my life – because of my beautiful baby boy – has changed. I discovered the inequalities and challenges in rare diseases and drug development, how the problem is not necessarily “finding” a cure, but raising enough money to fund a cure. When a disease is so rare, it is not seen as profitable and often ignored by biotech or pharmaceutical companies, or even universities. It is often up to motivated parents to lead the research, to develop a remedy.

No one had done it for Riaan’s disease, and we are committed to doing what we can to develop a treatment, on his behalf, and in allegiance to the Sikh principle of sarbat da bhalla – for the good of all. We have to save these beautiful children because if we don’t, who else will?

What did you learn that you wish people knew?

I never thought it would be me either. This was not going to be the story of our life. I just wanted a boring and loving family life with my little boy and my husband. I was going to be a lawyer until I retired. I didn’t even think about genetic diseases. I was worried about having a miscarriage or stillbirth, or that my gestational diabetes might harm Riaan in some way. Never in a million years have I thought that Riaan would inherit a disease that would only affect two children in a million!

I did the prenatal genetic screening during my pregnancy with Riaan, and my husband and I were not compatible with the diseases they tested. We didn’t know that there are over 7,000 rare diseases and that they don’t test many of them on these panels. Although rare on their own, together they impact many people around the world and are not really rare. One in 10 people in the world suffers from a rare disease. Someone you know probably has a rare disease.


Richard “Richie” DiGeorge with his son Riaan. Courtesy photo

I have met many parents of children with genetic diseases, and many of us are fighting hard and doing all we can to find a cure for our children. Many have abandoned their careers. They are fundraising for the first time, spending days and nights leading nonprofits while caring for their sick children and trying to create miracles. I am in awe – I have never seen such resilience and courage. And often no one knows our stories, or just ignores them.

Last month I wrote a blog post called “Let’s Talk About Mice”. It sometimes makes me laugh, but I think about mice a lot, just like other parents with rare diseases. If the therapy works on mice, it might work on our children. I never imagined that I would understand or talk about science and experiments, genetic diseases and gene therapies like I do now!

How is Riaan doing now? And what do you hope for him?

Riaan is the most beautiful, brightest and bravest little boy! He’s 21 months old and he’s as adorable and funny as he gets. He is still in chardi kala (Punjabi term meaning full of joy), and he is progressing. His most serious delays relate to gross motor skills – he has difficulty sitting up independently and cannot stand or walk on his own. He also cannot speak and only eats mashed potatoes.

Rian exercises.  Courtesy photo

Rian exercises. Courtesy photo

However, he understands everything, he is interactive, he has his favorite songs from “Sesame Street” – if a song hits the phone that he doesn’t like, he swipes the screen. He is good at choosing the books he wants to read. Lately, he’s been enjoying a game called Tower Defense with his father, where his father builds a supposedly indomitable tower, and Riaan – the beast – finds a way to bring it down. Riaan is always successful and his winning laughs are priceless.

The tragic news is that Riaan has an average life expectancy of five years. We are praying and working very hard to develop gene replacement therapy in time for him and other children with his mutation, as well as to explore if there are already approved drugs that can be reused for his condition to alleviate some. symptoms or delay disease progression. .

We thank our partners at Chan School of Medicine at the University of Massachusetts and the Horae Gene Therapy Center – especially the laboratories of Dr Miguel Sena Esteves and Dr Rita Batista – who are working on preclinical studies to develop gene therapy. . for Cockayne syndrome as we speak. Riaan Research Initiative is honored to have helped launch and fund this program at UMass, and is stepping up its efforts to raise funds – we need approximately $ 4 million – to bring this project to a clinical trial.

Sometimes it all seems overwhelming, but I remember then that we have already achieved the impossible in the last few months. Our Riaan is a perfect and special boy, a blessing from the universe, and science is advancing rapidly. I am a person of faith and a believer in science. There are reasons to be hopeful.

Author’s Note: Jo Kaur founded the Riaan Research Initiative to help fund a cure for his son Riaan’s illness. To donate to the 501 (c) (3) nonprofit, please visit

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