by Jo Kaur, Founder of Riaan Research Initiative
This is a longer read, be sure to grab a cup of tea (cha/chai) or coffee before diving in!
(June 3, 2023) - When Riaan was first diagnosed with Cockayne syndrome over two years ago, I had no idea what the future would hold, or what our days would be like. I never expected that we’d have to manage everything more or less alone. Something this big, this traumatic, I was certain we’d have a village surrounding us at all times, holding us up as we face the tasks of the day, weighed down by the grief that consumes us. That sadly hasn’t been the case.
Now the world has put its arms of love around us in our work to find a cure, and for that, I am eternally grateful. Our incredibly generous donors, some of whom are complete strangers, have given us real hope, and to all of them, all of you, we are indebted to you for life. Thank you.
In terms of the day-to-day caregiving, however, it’s a constant firefight, with few resources, respite, assistance, and stress relief. I share because it’s important people know our lives, and what we experience. Too many of us rare disease parents and caregivers suffer quietly, and alone, until we break from exhaustion, our bodies deteriorated, our well-being depleted.
We have been battling sickness for all of May. As we had feared, Riaan caught not just one but two viruses at pre-school, at the end of his first full week in early May. One was the common cold and the other was something called a parainfluenza-3, a particularly nasty virus. At first, it began like a cold, and he even had a great doctor’s visit. Then on the fifth day, things rapidly took a turn, and he began coughing uncontrollably. He could barely eat - because of the coughing - and drink. He was still feverish. I have never seen him that sick. I was terrified he might have developed pneumonia, which can be particularly harrowing for children with hypotonia (low muscle tone) and neurological disease. He could barely hold his head up. When children with Cockayne syndrome become sick, it can actually impact their skills and abilities. Some lose their ability to eat, their gross or fine motor skills, for weeks if not longer.
We took Riaan back to the doctor, who confirmed that his condition had worsened: he looked pale, sickly, and was likely in need of a chest x-ray. He recommended the Emergency Room. I agreed it made the most sense even though we have never had to take Riaan to the ER before, believe it or not.
I asked him to please call ahead and try to see if they could expedite us - I did not want Riaan catching anything else in the ER waiting room, plus I knew he could not handle a wait given his condition. He made no promises, only that he would “try.”
Richie was at home with Riaan’s little brother, Jivan. At this point only Riaan and I were sick but I was/am still breastfeeding our infant. I left the doctor with Riaan, drove home, picked up my breast pump, and headed to the Emergency Room. Fortunately, our children’s hospital has free valet parking. The logistics of carrying Riaan into the ER, with all of our stuff, were challenging. I didn’t think he could handle the stroller, plus it would be harder to keep his sunglasses and mask on. I strapped Riaan on to me, using a child carrier, and then piled all of our bags into the stroller. I put his mask on, and his glasses, pushing the stroller with one hand, and providing additional support to Riaan with the other (even in the child carrier his head tends to arch back at times).
We made our way inside and somehow it was not busy. We were triaged right away but Riaan began crying hysterically because they had to check his weight and I had to remove him from the child carrier - which has a lot of annoying and complicated straps - and then put him back on. It was a struggle to keep his mask on. They asked us to wait, we stepped into a corner away from everyone. Thankfully, five minutes later, they called us into the back and we were in our own room.
I had brought a letter from our regular primary care pediatrician, who had been assisting us at all hours via phone and text, and explained to the doctors some pivotal aspects to understand about Cockayne syndrome. This included the fact that Riaan should only be administered IV fluids at half the maintenance rate for his weight because he was vulnerable to hypervolemia (fluid overload); under no circumstances could he have an antibiotic called metronidazole as it can cause liver failure and death in CS patients; that his liver enzymes may be elevated but it should generally not be cause for alarm unless the elevation is severe; and that his airways were smaller than other children his age in the event that he needed to be intubated. To their credit, they were all receptive to the information.
The attending doctor asked me if we should do a bolus feed: they were concerned Riaan was possibly dehydrated. I said I didn’t think so but felt a bit unsettled to have to aid in medical decisions (as I am not a medical professional). I also felt nervous that none of these doctors had ever treated a patient with Cockayne syndrome before. We settled on a half maintenance IV rate, and then all of the testing began: placement of the IV, bloodwork, urine test via catheter (he did not like this); rectal temperature, nose swab, vitals: it was endless. Riaan cried but to his credit he was not inconsolable. Even though he is the strongest person I know, all of this must have been so frightening for him, as it would be for any child.
Looking around the room, I realized there were no straps for him on the hospital bed, and that even with the railings up, he was at risk of falling. I asked if they had a high chair in case he felt up for a feed, and they said they did not. There were simply little accommodations for a sick child with disabilities.
Once all of the initial testing was done, I asked one of the nurses to watch Riaan so I could set up my breast pump. Thankfully she agreed, and I began pumping, while standing, holding on to him, consoling him, playing music videos, trying to coax him to sleep. I was coughing nonstop myself, my migraine getting worse because I hadn’t eaten anything that entire day. If Riaan felt even a third of what I was feeling, it was awful. I personally hadn’t felt this sick in years.
It had been around 12 pm when we arrived at the ER. The next five to six hours, as anyone knows who has been to the ER, were an excruciatingly slow waiting game. I tried to keep Riaan occupied with video chats with his Nana and Nani Ji, his Aunt Minou, and he did great, and was calm for most of the time. We spent hours waiting for the very busy nurses to come in to administer medication - Tylenol - for his fever. Even though the ER hadn’t seemed too busy from the waiting room, that was likely an illusion. The ER is never not busy.
I was finally able to get someone to briefly watch Riaan while I ran to the (disgusting) bathroom, realizing I hadn’t used one in about eight hours. I was also starving, which worsened my headache. Normally, I would not be so concerned about my needs but as someone who is breastfeeding, I get hungry really quickly, and begin to feel sick if I don’t eat regularly. It’s hard to take care of Riaan if I can’t take care of myself.
I called Richie who said he would bring some food, and pick up Jivan’s breast milk. Unfortunately, he got caught up taking care of the baby and was not able to come for several more hours. My hunger was so extreme at that point I became dizzy and felt like I might pass out any minute. I was even tempted to insert IV fluids into myself!
When Richie did arrive, a kind nurse offered to briefly watch Riaan so I could run outside to the car and give him the pumped breast milk. We did not want to bring Jivan into the ER.
More than once, I wished we had someone in the area I could call to help us out. I was recently reading a memoir from a friend, Melissa Monroe, who tragically lost her 2 year-old, Alice, and she spoke about things that people did that were really helpful in her grief, and this included meal trains (without being asked), and aiding with chores, including filling up the gas in her car, doing her dishes and grocery shopping. She spoke about how people - well-intentioned - often say, “Well if there’s anything you need, let me know.” But this, while kind, isn’t always helpful because it puts the onus on the person experiencing grief or tragedy to come up with things they need (when they may not be able to think or organize their thoughts during an emergency or time of crisis), and the person may not feel comfortable asking for help because they do not want to burden anyone (and also they do not know what you mean when you offer the help, are you offering a free weekend getaway, or a home-cooked meal?).
Melissa wrote in her book, “Mom’s Search for Meaning,” about how it’s much more constructive to offer a list of actual things you can do for that person, and let them decide what they need: “I can go grocery shopping for you; I can babysit your children for 3-4 hours; I can bring you meals every day this week.” I found this advice to be so poignant, I’m passing it on.
That day in the ER, I felt sad and frankly scared that there was no village in the vicinity to assist us (most of my friends and family who were in a position to help live further away and I have been unable to find a babysitter or nanny). And when Riaan is very sick, everything is that much harder. I kept thinking: we need a plan for these things. What if there’s future ER visits (likely)? What if Riaan has to spend days or weeks in the hospital? What’s our plan? Will people be able to fly in from out-of-state? We have an infant at home to think about too.
Finally, Riaan’s tests started coming back. We learned he had caught two viruses (what in the world!), and was slightly dehydrated. (While we are very grateful to all of the hardworking healthcare providers who took care of Riaan, given how contagious he was, I was surprised by the number of people that came into our room not wearing a mask. They could have easily caught the viruses from Riaan and then passed them on to other sick children in the ER, or vice versa. I was relieved that everyone I asked to put on a mask agreed.) All of Riaan's other tests were more or less normal, including his chest x-ray. We then had to decide whether to admit him to the hospital for fluids to prevent further dehydration.
I spoke with two doctors I trusted, and a fellow CS mom. Both advised that if we felt we could hydrate Riaan at home, then being admitted was unnecessary. One of the doctors noted that we should avoid extended time at the hospital unless absolutely crucial lest we risk exposure to other viruses. I looked down at Riaan who was growing very cranky by this point - understandably so. He was starting to complain and cry off and on. He wanted out. He was done with the wires, the cords, the tests, the hospital gown, being stuck in his bed, and the cold - it was perpetually freezing in there even though I had wrapped him in so many blankets. One of the residents also told me that it would be hours before we were admitted and they could not guarantee we’d be in a private room. That sealed the deal. We were going home.
As soon as I announced our intentions, they immediately brought in the discharge paperwork and removed Riaan’s IV, the stickers for the heart monitor (which took a full week and a lot of scrubbing for us to completely remove from his skin), and everything else attached to him. I quickly assembled our bags, my food - which I had not yet had a chance to eat - grabbed the child carrier, dressed Riaan, and strapped him to me. He was so happy! Once he was safely on, I put on his mask and his sunglasses, and out we went, the same way we came in, rushing for the exit. We could not leave the hospital quickly enough. We looked like we were fleeing the scene of a crime.
Once I had him in the car seat, he ripped off his sunglasses and smiled in relief. He was in his car seat, and he was going home. I could see the tension release from his body.
At home, Riaan received the biggest welcome from his dad and brother. His dad shouted, “Riaan! Riaan! Riaan!” Riaan was grinning from ear to ear, dancing as I held him, and called back, making his lovable Riaan sounds and noises. Jivan was all smiles, so happy to see his brother (did I mention these two are in love?). We gave Riaan a nice warm bath, and after that, he and I went off to quarantine in the bedroom. We were both coughing up a lung every other minute. We were desperately trying to protect Jivan from getting sick.
We stayed in quarantine for another day or two. Richie and I both wore N95 masks around the house. We had kept the boys apart this whole time which is no easy feat in a NYC apartment. But to no avail. A few days later, a full week after Riaan first started getting sick, Jivan was burning with fever, and coughing like the rest of us.
And so began another round of frantic, long, frustrating, and exhausting doctor’s visits, Motrin and Tylenol, antibiotics, staying up all night, and trying to restore our children’s health. Riaan actually recovered faster than all of us (Richie was the only one who didn’t get too sick except for a minor cough). Riaan was fever-free after another day or two, and his cough receded after about four or five days. His eating and drinking - which he does by mouth - rapidly improved. Jivan, being only a 7 month-old, suffered the brunt of it. Oh my baby boy was miserable, and he spent so many hours crying. I have never sucked so much snot out of another person. He also had the same two viruses as Riaan except his condition was so much worse, and he took much longer to recover (he’s still not yet at 100%).
In retrospect, Riaan was much easier all around. When he’s sick, he’s pretty relaxed and easygoing, and tends to rest and sleep more. Not Jivan! He was so congested he couldn’t sleep. There were several days where we stayed up all night and held him upright so he could get some rest. There were late night baths to cool down his fever: midnight walks around the block to get some cool, fresh air to soothe his burning skin. Jivan also did not want to be alone during the worst of it, and needed a parent by his side at all times.
At one point amidst all this sickness, I looked at myself in the mirror and realized I hadn’t showered in three days, and I hadn’t washed my hair in over a week. I was so miserable, exhausted, and worried, and it was starting to show. We didn’t even have time to cook for ourselves. We had been ordering unhealthy takeout nearly every day. I felt sick and physically uncomfortable. Thank goodness for grocery delivery at least. I know there’s people who don’t have this option. Meanwhile, I also continued to have my own fever for several more days, and in the hour or two I did manage to sleep, I would have the strangest dreams about a race of super advanced, peaceful, sentient beings from outer space who all vaguely resembled Riaan. Life felt surreal.
A fellow CS family sent us a generous gift card for DoorDash and we thought that was so incredibly thoughtful and kind, it cheered up our entire night. What a difference an act of kindness (and some chocolate cake) makes. We were desperately trying to survive the days which had turned into weeks, and then into a month on little sleep, bad food, running around nearly 24 hours a day, just trying to get our children back to baseline. Richie went back to work, and soon it was just me, with one very sick and needy infant, and Riaan, who although recovering, still requires more care and attention on a daily basis than a typical child. My only “breaks” were the minute or two I’d get in the bathroom.
And Riaan, oh my Riaan. Once he was better, he became my sidekick and cheerleader. He has been eating so well since he’s recovered, finishing nearly 100% of his meals. He’s been super fun, chill, kind, and just so loving, helping me try to calm his little brother down during his crying fits. There was a point I was sitting on the couch, exhausted and spent, realizing I hadn’t eaten all day and hadn't used the bathroom in hours, and feeling so drained, weary, and alone. Jivan was crying because he was so congested and his coughs were hurting him, and Riaan just wrapped his arms around me, and patted me on the back. He was trying so hard to comfort me during my pity party, my sweet little boy.
When he was in the hospital, it killed me. I hated seeing him in that gown, with all the wires, in such a cold, harsh, and clinical setting. On the one hand, if he needed medical help, of course I wanted him to be in the place he could receive it. But given his diagnosis, I don’t want him in a hospital. Ever. I know where that can lead. I want us to be always smiling and clapping gleefully as we walk through his favorite park, life surrounding us with sunshine, roses, rainbows, picnics, and ice cream.
Yes, the days of a rare disease mom/parent are incredibly challenging and yes we are doing more alone than I ever thought we would but our days are also full of a joy that I have never experienced before. Riaan is a magical child. Yes, life is exceptionally hard, especially during times of acute illness, and I’ve given up on the concept of rest for good but I have my Riaan and Jivan, and I’m happy and grateful. But should it be this hard? Does it have to be?
We took Riaan back to meet his school friends, therapists, and teachers last week. He hadn’t seen them in over three weeks. The school had an Olympics-type event for the children. I wasn’t sure how Riaan would react, if he missed school, if he remembered everyone. More than once I wish I could know his mind, that he could tell me what he was thinking. Yet he finds so many different ways to communicate.
When I tell you how happy Riaan was to greet every person at the Olympics event, I can’t even begin to describe it! His classmates came running over (many are able to sit, stand, and walk independently), shouting things like “Riaan! Riaan’s here!” He was giving out hugs and high fives left and right. Already he’s the most popular person in his class. Riaan was in such a euphoric mood the rest of the day (as were the rest of us) and it was such an honor and privilege to be able to witness him in his glory. I am so thankful to Riaan's amazing school for helping to give him these life-changing memories.
As his mother, I am always so proud of him. May was profoundly challenging and I’m not sure I could survive another month like that but in the grand scheme of things, let me live on bad takeout, no sleep, checking temperatures day and night, dispensing Tylenol and Motrin like it’s candy, and trying to coax sick children to eat. Because a life with my children - no matter their condition - is always going to be better than a life without.
Still, it’s incredibly tough (when it shouldn’t have to be), and there are many moments of despair. There’s little time for anything else, for our own well-being if I'm honest, and I’m not sure how long people can last living like this. We parents are burning the candle on both ends, and trying to make our energies last as long as we can.
Our daily lives, living with the knowledge that our child is rapidly dying from a devastating disorder, are challenging enough in a way that I think most people will never truly understand. The grief impairs your mind, body, and soul: daily tasks and the admin of life can feel insurmountable at times.
I wish there was more help, that we did more for rare disease families (or any family dealing with a child with a chronic medical condition, or really just any family with young children period).
Too many of us are left on our own, in a little row boat in the nastiest storm, with few provisions, trying to navigate to safer waters. How many of us make it?
Every parent needs a village. But we rare disease parents really, desperately, could use one. Tragically, some of us don’t have that option.
Don’t count us out though. As Maya Angelou once said, “If I have a monument in this world, it is my son.”
And for Riaan, our legacy, let the power of our infinite love flow through so he stands tall and proud, shimmering brightly through the ages.
There’s nothing we CS moms and dads won’t do for our children, and we are truly grateful for the larger, global village we have built through Riaan Research Initiative. Thank you to all who help us on this journey by sharing our stories and supporting our efforts to fund the development of treatments for Cockayne syndrome. You are our community, our people. You walk with us and you keep us going. We can't do it without you.
Support our work to help our children and donate today. Every dollar helps!