by Jo Kaur, Founder, Riaan Research Initiative
Riaan (pictured above, looking too cool for school) rarely gets to go outside during the day, and I feel very guilty about this. It’s not because we don’t want to take him out. It’s a number of things: because of his sun sensitivity due to his Cockayne Syndrome diagnosis, he requires sun protection, including sunscreen and sunglasses to protect his retinas from UV damage (he is far more susceptible to retina damage and degeneration than other children). The sunscreen part is easy but it can be hard to keep sunglasses on a baby. Then there’s the matter of the weather and the time change. The days are shorter and colder, the darkness comes earlier. Then there are all of the other things Riaan has to do which take up his whole day: the many therapy sessions, and feeding (which we all know is an event for our children). By the time we get a mini-break, it’s already nightfall. It’s also hard for me to take him out alone because he is prone to doing a lot of extensions - in other words, he arches his back a lot when you’re holding him. He does this less with his dad but it can be tough for me to carry him. In a stroller, he tends to lean to one side quite a bit, and gets tired and fussy after about fifteen minutes or so which makes it hard to go anywhere like an aquarium or even a longer walk. Then there’s COVID concerns.
However, lately Riaan has been getting rightfully bored with everything. He is tired of his toys, he is tired of his therapies. The boy is approaching two years of age, and as smart as he is, he wants new adventures, and I am determined to do more, and be better at getting him new experiences so that he can enjoy his life. So today we decided to take him out in the middle of the day. The weather was too gorgeous not to although the sun was quite bright. Granted, this is a modest adventure by any stretch of the imagination but it was a big deal for our family. To Riaan’s credit, he kept his sunglasses on the entire time, which bodes well for future trips outdoors. He also really enjoyed himself, which I am sure you gathered from the photo above. He was looking at everything, and even sat up a few times, smiling and breathing in the breeze.
After our walk, I took him out of his stroller to bring him inside our place. Our elderly neighbor, who doesn’t know Riaan’s diagnosis, saw him, and said, “Oh is he doing ok?” I said, “Yeah he is ok.” Then he asked to look at Riaan’s face. I showed it to him, and he didn’t say anything. I took Riaan inside. It’s not easy to talk about Riaan’s diagnosis in person, and I sometimes wonder what people think. They probably see a child that weighs a lot less than he should and likely wonder why.
Speaking of Riaan’s weight, when one of your child’s symptoms is “failure to thrive,” you’re constantly worried about their growth. I get these Google Photos “then and now” collages on my phone, and lately the ones that have been coming through make me a little sad. I can see that Riaan was a lot chubbier in the face a year ago, and he is much thinner now. I try to tell myself he just lost his baby fat, but truth be told, losing subcutaneous fat (the jiggly fat right under your skin), especially in the face, is a prominent symptom for children with Cockayne Syndrome. I detest seeing the signs of this wretched disease on his beautiful face. I worry his eyes have started to look sunken. I tell myself I am just imagining things. He is doing well, he is stable.
I had a conversation with a CS researcher when Riaan was first diagnosed. At the time, we thought there was a chance Riaan may be closer to a Type 1 (moderate) than Type II (severe) based on his height, weight, and head circumference, and abilities. She told me that as Riaan gets closer to two, we’ll probably have a better idea of where he stands. In terms of motor abilities, Riaan remains on the severe end. In the past few months, we have not seen a lot of progress in terms of his ability to sit independently, stabilize and balance himself, stand and walk independently, or speak. He’s definitely improved in his standing and walking skills using a KidWalker. He’s cognitively more aware and alert than ever, and bright, and funny. We continue to pray and hope for the best, and have begun actively exploring other drug screening/repurposing programs to find hope in the interim.
I attended a virtual event yesterday on fundraising where the speaker talked about his rare disease diagnosis, which involved the growth of a tumor in his brain and hearing loss in one ear. However, he - through research - was able to find a drug that had been used for other disorders, available at the local pharmacy, and began taking it. It stopped his tumor from growing. This is called drug repurposing. Imagine if there is a drug out there that is typically used to treat say epilepsy but it can be “repurposed” to treat a rare disease that currently has no treatment. This is the fastest way to clinic, so to speak. In addition to our work with Rarebase which we are very excited about, we have been in conversations with a number of scientists to see if we can find other drugs that could potentially work to treat Cockayne Syndrome, or at least improve or halt some symptoms. Imagine if we found a drug that could halt the neurodegeneration. We are actively brainstorming what readouts and assays to use - i.e. what metric are we using to make sure the drug works - and how to make this a reality. I now fully understand why it’s important to have multiple options. You don’t know how much time you’ll have, and it’s important to give our children as many chances as possible. We don’t have the luxury of starting one project, waiting for it to conclude, and then launching another one. We have to act concurrently. We have to get all of the balls rolling - smartly and thoughtfully chosen balls of course.
Which brings me to fundraising because of course we can’t do anything without resources! We are in the midst of a deep fundraising season. I won’t go on about it, only to share the two graphics at the end of this post which describe two other ways to support us (just by shopping!), and to remind you of our ongoing #Match4Riaan campaign , where all donations up to $100,000 are doubled, until Riaan turns 2 on December 12th! We’ve reached 61% of our goal thanks in part to an incredibly generous $26,250 donation. Thank you to everyone who has donated so far!
On our fundraising call yesterday, we had a robust discussion about how rare disease organizations can raise money, and strategies vis a vis raising money targeting a patient/caregiver community or the mainstream population. One presenter said something that stayed with me - through this work, we’re building a new community. It consists of patients, caregivers, and everyone who wants to help. It’s a broader community, and it’s through our collective work and love, through us caring about other people’s children, about diseases and issues that may not affect us, that we can save lives. Without that, there is no hope. We are so grateful to be building that community with you, our supporters.
One other apt comment one of the presenters made was how drug development - contrary to what we may expect - is not based on patient need but the market, and the market has little interest in pursuing treatments for children who suffer from rare disease. There’s little profitability so parents and patients are left on their own. Without you, we couldn’t do any of this work.
Finally, on a personal note, I wanted to talk a bit about mental health, the holidays, and stress, especially as November is Family Caregivers’ Month. Caregivers, patients, and families are under a lot of stress with a rare disease diagnosis, and it feels like the pressure never lets up. It feels like we’re living in a different world - so detached - yet life continues to make demands of us despite the condition and trauma that we’re in, and it’s a lot to deal with. What’s worse, it can be hard to juggle personal relationships and relate to family, friends, or colleagues. Our bills don’t stop, in fact for most of us, they’re probably piling up. Our other burdens and responsibilities don’t go away. And as the holidays approach, with picture perfect holiday cards of folks with typical, healthy families, the anguish can deepen.
It’s important to take time to take care of yourself, even if it seems like a chore to do so. I know it’s easy to lecture but hard to actually do it. I haven’t been doing that great of a job on my end to find time to take care of myself. I’m trying to find a grief therapist but haven’t had a chance. I forget things, I cry when I’m alone, and sometimes I am eagerly searching for the pause or off button, just to relax my mind, maybe for 15 minutes. I can never seem to find it. I’m perpetually exhausted, mind, body, and soul. Music and shabads (prayer hymns) are soothing but also make me cry. Sometimes it can feel like there’s no relief.
Yesterday, I completely forgot my husband’s birthday. At 11:36 pm, frustrated, he asked, “Jo, do you know what day it is?” I said, “It’s Wednesday.” He said, “Yes, but what’s the date?” I then began to wonder if I forgot our wedding anniversary, which was silly because we got married in March. I didn’t know the date, I had no idea what he was talking about. Finally, he said, “It’s my birthday!’
Oh man. I felt terrible. It’s not that he wanted a big celebration, not in the situation we’re facing. He just wanted me to remember, and I didn’t. Today, I am trying to make up for it. It’s hard because we constantly jump back and forth from feeling intense grief to “no we must take advantage of every minute and have fun because we don’t know how long Riaan has and how much time we have together as a family.” But the pain keeps coming. It never goes away, and it can be hard to function like we did before.
To all of the caregivers, I see you. I understand the loneliness, the frustration, the anger, the grief, the pain, and also the joy, and the good moments. This is not an easy journey, and it probably never will be, but know that you’re not alone. And if you can, do try to enjoy as many moments as humanly possible. To our rare disease family, sending you lots of love.