A Day in the Life of a Rare Disease Mom Who Runs an Organization
Plus, Happy 20 Months to our Riaan!
Today, Riaan turned 20 months! 20 months of joy and wonder he has brought us!
So what’s a day like in our lives? I thought I’d share today, which began with a Home Alone moment.
Riaan and I woke up a little later than normal - his dad was already at work. We both opened our eyes at the same time when we heard the doorbell. Riaan looked at me with a “Oh no, did we miss our plane?” expression. His physical therapist was at the door for Riaan’s daily session! We flew out of bed, and quickly did a diaper change, and I got Riaan a bottle of milk with his daily NR/NAD supplement. NR is a supplement that is available over the counter, and has been shown to prevent hearing loss in mice with Cockayne Syndrome (it’s all about those mice!). It has not yet been tested for efficacy in human CS patients, but it’s a fairly safe supplement, and approved by our pediatrician to give to Riaan. Even if there is only a possibility that it can help, why not?
Soon, with many apologies to Riaan’s incredible physical therapist, we had him in his ankle-foot orthotics, and strapped into his KidWalker. Today, he was so good. He stayed in the walker for the entire half hour session, which means he was standing the whole time. He even learned to move his legs. We rolled a ball toward him, and he began to kick it, moving his legs, and you could see the wheels turning in his beautiful little head, that he was beginning to understand the role of his legs in the walking process. Things that most typical toddlers, and people take for granted.
It turns out all of that standing did wonders for Riaan’s digestive system! He’s been constipated the last two days but he finally had a fantastic, substantive bowel movement after his physical therapy session. He was much happier as a result.
Following the best diaper change ever, I briefly left Riaan in his playpen to answer some work-related emails with Riaan Research Initiative’s advisors and consultants. We’ve had intensive meetings this week with scientists to finalize our plans for moving forward with the research, and have been working to establish timelines, cost, and milestones for the initial phases of the CSA gene replacement therapy program, which include proof-of-concept and pre-IND work, and thinking through each part carefully. Basically, the pre-IND work is the part where we design and produce the treatment (the vector), and then test it for effectiveness and safety on the mice. A critical part of any research plan. However, this is not a situation where we can embark on a journey, and then if we realize it’s the wrong path, we go back to square one and start over. We don’t have the luxury of starting over. We don’t have that time. We need to ensure we pick the right path, and certainly there is some risk involved. Risk is a major part of any new scientific endeavor, especially when lives are at stake. It is for this reason that we learn as much of the science as possible and lean on our brilliant scientific advisors.
Anyway I quickly shot off some emails and turned back to Riaan, who was annoyed with me and had rubbed out his contact while I wasn’t looking. Luckily it was in the playpen next to him. I quickly retrieved it, cleaned it, and then proceeded to put it back in his eye. Six months ago, I would not have been able to insert his contact back in myself. Now, it’s like second nature. Riaan’s contacts, which he wears most of the time, are removed for an overnight cleaning twice a week. Each pair lasts for about three months, and as the protein deposits accumulate, they bother him more, and he rubs more frequently. We’re getting to the end of this pair’s life cycle. When Riaan turns two, he will have to wear glasses in addition to his contacts. We are also considering getting him another eye surgery to implant artificial lens so he does not have to wear contacts but there are concerns about the stress of multiple eye surgeries on Cockayne Syndrome patients.
I leave Riaan alone on his mat to play with his toys, and rush off to blend his breakfast puree. He’s cranky and annoyed, he does not like to be left alone. I put Riaan in his high chair and we begin the feeding process. The first step is playing songs on my phone - Riaan requires entertainment while he eats or he refuses to open his mouth. Some feeding days are very challenging, Riaan won’t open his mouth a lot. Today, he took it easy on me. He was opening his mouth well, and taking down his oatmeal. Then the cough came. Once he coughs, you have to move with extreme caution. It’s like walking in a field of landmines. One wrong move, and he may vomit his entire meal (which happened last night). He doesn’t vomit frequently but it happens enough that it’s a concern. It’s a constant battle - should I push him to eat more or do we want to not risk him throwing up what he already ate? Something is better than nothing right?
I give him a few minutes and finally make my first cup of coffee. The YouTube autoplay begins to play an Elmo song he doesn’t like. Riaan grabs at the phone to try and change it. I quickly change the song, and he’s happy. Even dancing. We begin eating again, going very slowly. Small spoons, monitoring him very closely. Keeping the music going. Slowly, step by step, we complete 3/4ths of the meal before he lets out a horrendous “I may vomit” cough. I put the spoon down. We’re done. We’re not risking it.
There’s been studies done on Cockayne Syndrome mice and patients which suggest that pushing patients to eat more than they want is detrimental to them. Some studies also suggest that dietary restrictions may provide some neurological benefits since at its heart, Cockayne is an accelerated aging disorder. That being said, this advice is counterintuitive to what we as parents see before our eyes, which is children who don’t eat that much, and even when they do, they are significantly underweight. We take our cues from Riaan and so far it’s been working out okay. He’s gaining weight, although at his slow pace, and still taking food by mouth which we are grateful for. Many children who are also in the severe category for this disease are already on feeding tubes at this age.
I clean up Riaan after his meal and put him back down on his mat to try and do some work while he plays next to me. I foolishly leave my coffee cup next to me (now cold), and he knocks it over. He’s fine but the mat is soaked in coffee. Riaan though loves the smell of coffee so he doesn’t mind. Wiping it up, I see an email from another parent of a child with Cockayne Syndrome. He’s responding to the news I shared with him yesterday that Representative Grace Meng, a member of the U.S. House of Representatives, has successfully managed to include a provision for Cockayne Syndrome in the NIH Appropriations Bill. In other words, if this bill passes, the United States Congress is encouraging NIH to set aside funding for Cockayne Syndrome research, including for gene replacement therapy. THIS IS HISTORIC! To get this level of attention from the federal government - from Congress - for a disease so few know about, and that impacts so few children is a big deal. Here is the text:
Cockayne Syndrome – The Committee recognizes that Cockayne Syndrome is a rare hereditary autosomal recessive disorder that disproportionately impacts children. It has no known treatments, therapies, or cures. Cockayne Syndrome presents unique research challenges for many reasons, including difficulty in accruing enough patients to participate in clinical trials and a lack of industry focus on such rare genetic diseases due to the relatively small number of patients diagnosed with this disease. The Committee strongly encourages NIH to expand funding on research on Cockayne Syndrome, including but not limited to gene replacement therapy. – House Report g. 147
https://docs.house.gov/meetings/AP/AP00/20210715/113908/HMKP-117-AP00-20210715-SD003.pdf
We had met with Congressmember Meng’s office after Riaan was diagnosed, and she heard our story, and took action. We are truly grateful to her, and excited about the possibilities that lie ahead for developing a treatment for this disease. I’m heart-warmed to see that other parents in our situation are also excited by the developments.
Then there’s a phone call. It’s the dentist reminding me I have an appointment today. Groan. I’ve been putting it off forever so I decide I need to just go. Meanwhile, Riaan is not happy with his toys or being ignored while his mother is on the phone. I scoop him up and sit him between my legs, and read him books. He’s in heaven, turning the pages, smiling, laughing.
Finally, dad comes home from work. He showers. We trade, I do some more work. Riaan falls asleep for his daily nap. I then rush off to the dentist, and the grocery store, answering emails whenever it’s safe. I take a few fundraising calls. At the grocery store, I feel strange. I rarely go out into the world or do our shopping, and the sight of so many people, moving in ordinary ways, shocks me because my world, my reality is so different. It’s hard to feel “normal” in our world again. I really feel like I’m living on a different planet sometimes.
Meanwhile at home, Riaan wakes up, and has his Occupational Therapy session with his dad and his OT therapist via telehealth. It’s lunch time, and then a dance party with his dad. Finally, we begin to wind down, and soon it’s dinner time and bath time. We’ll probably take a walk later as a family, and then off to bed. Every moment with Riaan, a total blessing.
Happy 20 months, my love. Every minute of your life brings infinite joy to your parents. You must know that.