February 18

Mom is Fighting to Fund a Cure for Her Toddler’s Rare Disease – SheKnows

By fitness

February 18, 2022

I scatter a pile of kids’s books in entrance of me. My two year-old, Riaan, seems to be over them, rapidly grabs one, and arms it to me to learn to him. It’s titled, “I Love You, Daddy,” about an endearing relationship between a bear daddy and his cub, and it’s one in all Riaan’s favorites. I learn it to him, typically in humorous accents, and Riaan claps his fists in glee. He helps me flip the pages. When the e book ends, he cries. He needs me to learn it once more.

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I smile, my coronary heart overflowing with pleasure that I get to mom this lovely, inquisitive and decisive creature, who's rising and progressing every day.

A creature, who because it seems, is dying of an ultra-rare genetic illness that's recognized in only some hundred kids all around the world.

I want my motherhood journey might be nurtured in close to complete anonymity, banal to others however extraordinary to my household, and that we lived a merry but non-public lifetime of discovery, love, and wealthy recollections, carved from odd moments like studying kids’s books. But that’s not our state of affairs. Our story — to be able to give Riaan any likelihood at life — should be shared, as transparently and truthfully as we are able to. Because the assistance of individuals we all know — and particularly folks we have no idea — is our solely path to saving our child boy’s life.

“Because the help of people we know — and especially people we do not know — is our only path to saving our baby boy’s life.”

When Riaan was 15 months previous, he was recognized with Cockayne Syndrome, a very merciless neurodegenerative genetic dysfunction that provides him a life expectancy of 5 years and causes important developmental disabilities, listening to loss, imaginative and prescient impairments, microcephaly, hypotonia, and failure to thrive. I had by no means heard of it. No one has. I bear in mind frantically Googling the syndrome throughout the telehealth go to with the geneticist, who relayed to us the outcomes of our entire exome genetic sequencing take a look at. I bear in mind him saying, “We know what’s going on with Riaan, and unfortunately it’s not good.” He stated there have been no therapies. He stated all we might do was handle the signs and love him. I bear in mind feeling like I used to be leaving my physique in that second, a whirlwind of horror, despair, and disappointment swooping in to take the place of the particular person, the mom that I as soon as was. Part of me, that innocence all of us have, it’s been gone since that second, misplaced to the sands of time.

I bear in mind making an attempt to clarify to my Punjabi Sikh dad and mom — who we have been visiting on the time of the prognosis — methods to pronounce “Cockayne Syndrome,” our hearts shattering in unison at this evil, unusual factor coming into our lives.

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Photos Courtesy of Jo Kaur

Nothing will ever be the identical once more, my expectations of our life, of motherhood, of getting to observe my firstborn and solely baby develop up, go climbing within the nationwide parks along with his dad and mom, graduate, fall in love, eat the entire data humanity has to supply, and forge his personal path in our breathtaking world – all of this hope for my baby taken, stolen. This anguish, grief — anticipatory grief, they name it — is just too a lot for any human being to endure.

How did we get right here? My husband and I had undertaken the entire genetic screening testing they provide throughout being pregnant. Our outcomes confirmed that we weren't carriers of any of the identical ailments. Riaan had been examined for chromosomal deficiencies, and every part had come up destructive. It seems these assessments don't display screen for many ailments. It seems that there are over 7,000 uncommon ailments, most of them genetic, and clearing the screening take a look at doesn't imply your baby will likely be okay. We discovered this out the merciless manner. I used to be naïve. I had no concept.

My husband and I each have a single mutation every in gene ERCC8 (CSA), which is liable for repairing broken DNA amongst different issues. This is a critically necessary operate for survival, and injury to this gene causes Cockayne Syndrome. Over time, because the broken DNA accumulates, it accelerates the signs of neurodegeneration. Most kids are inclined to die from respiratory misery/sickness, kidney or liver failure. As carriers of just one mutation every, Riaan’s dad and I should not impacted. However, we handed each copies of our mutated gene to Riaan, and in consequence, he was recognized with Cockayne Syndrome. A baby’s possibilities of being born with Cockayne Syndrome are two in one million. What are the percentages, they are saying?

We knew one thing was fallacious even earlier than Riaan’s prognosis however we by no means suspected it might be something terminal. The first signal that one thing was severely fallacious was when he was recognized with bilateral cataracts at three months. I bear in mind being within the ophthalmologists workplace and informed that my son had most likely by no means seen my face.

“I don’t know how much time we have but we’re not sitting here, waiting for death to come find my little boy. We’re fighting, and we believe we have a good chance.”

As time went on, Riaan continued to fall off the expansion charts and missed developmental milestones. I bear in mind receiving emails from BabyCenter about the entire issues Riaan ought to have been doing by a selected age. But wasn’t. We had quite a lot of genetic testing finished following Riaan’s cataracts prognosis: a cataracts panel, a mitochondrial panel, a microarray evaluation. They have been all destructive. I Googled his signs the entire time, weighed him incessantly and measured his head circumference, keen him to “catch up.” Once once more, I naively believed he was largely okay, because the assessments got here again destructive, or if there have been points, we might handle them. After all, we had mastered the Olympian activity of inserting contact lenses into his eyes following his cataract removing surgical procedure! We had a routine with all of his early intervention therapies. We have been figuring this out.

It’s now been virtually a 12 months because the prognosis. Riaan is doing nicely, comparatively secure, and as cute as a button. He’s underweight; he can't sit independently or feed himself (certainly, he'll solely eat to Sesame Street and Cocomelon music movies and if a music comes on that he doesn't like, he'll hilariously clamp his mouth shut till we modify it). He can't discuss, stand, or stroll however he’s fairly brilliant and alert, with probably the most fun-loving persona you possibly can think about and has clear preferences for music, books, and toys. He learns issues so rapidly — just like the capabilities of toys or methods to play primary video games — which has shocked me given the severity of neurodegeneration that he faces. I didn’t know what power and resilience was till Riaan.

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Photos Courtesy of Jo Kaur

I don’t understand how a lot time we now have however we’re not sitting right here, ready for dying to return discover my little boy. We’re combating, and we consider we now have a very good likelihood.

After just a few weeks of tears following the prognosis, we publicly shared our story, expressing our helplessness on the state of affairs. Immediately, one other uncommon illness dad messaged me, and I’ll always remember his phrases: “You’re not helpless, Jo. There’s things you can do.” And certainly there are. Despite having no science or medical background — I’m a civil rights legal professional — I dove headfirst into the analysis.

“The path ahead is full of challenges. But together, I do believe we can save Riaan and children like him, no matter how rare and severe their disease.”

Three months after Riaan was recognized, in June 2021, we based Riaan Research Initiative, the primary analysis advocacy group with a mission of funding and accelerating the event of therapies for Cockayne Syndrome.  I’ve shifted gears to specializing in this work full-time in addition to being Riaan’s main caregiver. We’ve raised over $1.4 million {dollars}, and launched a CSA gene substitute remedy program at UMass Chan Medical School with a purpose of making a gene remedy that may exchange the mutated gene in kids’s our bodies with a duplicate of the wholesome gene. We have funded and are additionally pursuing drug repurposing screens: In different phrases, we’re seeking to see if there are already FDA authorised medication sitting round at a CVS or Walgreens that could be repurposed to halt the neurodegeneration we see in Cockayne Syndrome sufferers. This is all groundbreaking work for this illness.

Research is considerably costly, and relating to ultra-rare ailments like Cockayne Syndrome, which lack profitability, the funding comes primarily from parent-founded teams like ours, as irritating that's. On high of caring for our medically advanced and fragile kids, we should additionally put within the work, day and evening, to serving to get therapies developed. There’s nobody ready within the shadows to avoid wasting us. We want to boost $4 million {dollars} to see the work by way of, and we have to do it rapidly. We have $2.8 million {dollars} left to boost, and our purpose is to hit that by the top of this 12 months.

The overwhelming majority of our donors are folks outdoors of the tiny Cockayne Syndrome group, who're motivated and need to assist. With their extremely beneficiant help, we're nicely on our solution to creating miracles — however we have to proceed to increase our group of care, love and sources to get to the end line. The path forward is stuffed with challenges. But collectively, I do consider we are able to save Riaan and kids like him, regardless of how uncommon and extreme their illness.

Every life is value it, and each life issues. And whereas motherhood has not been what I anticipated, it has reworked into one thing much more necessary and sacred to me. For my Riaan, for the opposite lovely kids with Cockayne Syndrome I’ve come to know and love, we can't fail.

Jo Kaur is Riaan’s mom, Founder and Chair of Riaan Research Initiative, a 501(c)(3) non-profit group, and a civil rights legal professional primarily based in New York City. To donate to Riaan Research Initiative, please go to riaanresearch.org/donate..

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