Sarah Chamberlin is the mother of a child with a rare disease, and she finds herself torn between her instinct to focus on practical problem-solving and her daughter’s need to make sense of what her future might hold. When a condition has no cure, she wonders, what does progress even look like?
Sarah Chamberlin is a founder and the Executive Director of flok Health, which serves those with inborn errors of protein metabolism. She'd never heard of her daughter's rare condition until she was diagnosed through Newborn Screening. flok's goal is to improve care and accelerate scientific progress for the community through patient-led research built on community connection.
Transcript
In 2009, I was living in Brooklyn with my husband and we were expecting our first child. We were members of a community garden. I was in a women's empowerment biking group I went riding with every week. He was in several bands, and our childbirth class was on the ground floor of the Unitarian Universalist Meeting House. We were very Brooklyn.
And so we're all sitting, a set of couples on the early 20th century parquet floor, talking about what we envision for our childbirth experience. Universally, it was sort of a doula or midwife, a very curated playlist, soft lighting, and almost universal and probably ill advised desire to not have an epidural during childbirth.
When it came to me, my needs that I'd sort of come up with were so basic, they almost felt offensive in this setting. I just wanted to come out of childbirth healthy and with a healthy child. And I did. I had a daughter named Samantha. And four years later, I had another daughter named Isabel. We called her Izzy.
When Izzy was six days old, I was doing the proverbial napping with the child, which they always tell you to do, and my phone rang. I didn't wake up in time to get the call, but there was a voice mail. And just before when I picked up my phone, I took a selfie of Izzy and I. She was six days old. I swear she was smiling. I sent it to my husband and I said, “We had a good nap.” Then I listened to the voice mail.
It was Mount Sinai Hospital calling to tell me that Izzy’s newborn screen had flagged positive for something called phenylketonuria, and that we needed to bring her to the hospital first thing the next morning. The last thing on the voice mail was, “And Ms. Chamberlin, before you come, don’t Google it.” We did.
PKU is an incredibly rare genetic metabolic condition characterized by the inability to metabolize one of the amino acids in protein. For people with PKU, this amino acid can build up, and here I can see the words jumping off the screen of the Mayo Clinic website. “This amino acid builds up, becomes a neurotoxin, and causes catastrophic and irreparable brain damage within months.”
That was pretty shocking to read, but we followed the directions. We went to the clinic the next morning and we learned that this incredibly rare disorder was something that potentially ran in our family. My husband and I were carriers and we didn’t know it. But even with two parent carriers, it's incredibly rare. One in four children of those parent carriers will have the condition. There are about 275 babies born a year with PKU in the US, so basically I should have bought a lottery ticket because here I was. I beat all the odds and I had this kid with this condition.
We were also the luckiest of the unlucky. There's a treatment to prevent that catastrophic brain damage. And here’s another phrase I read on the Mayo Clinic website. “Without treatment, individuals with PKU can expect to have normal or near‑normal outcomes.” What that means really is we can't cure this but we can make sure it's not as bad as it might be.
So when you have a kid with this condition, there's a lot to learn. No one on the first 72 branches of the UnitedHealthcare phone tree had ever heard of this. I got really good at asking for a supervisor and arguing with insurance.
You also have to learn how to take blood from a small baby. You just have to be merciless. Izzy doesn’t remember any of those bi‑weekly blood tests, even when we started doing them at home.
You have to figure out what to do with the 90% of the breast milk that you’re producing that you can’t feed to your child for fear of causing brain damage. In my case, I found an adoptive couple who was happy to show up on my stoop every Friday morning and accept a cooler full of frozen breast milk. I still have them in my phone as the Milk Dads.
Once you get to managing the actual condition, it's a little bit harder. Babies are growing so much you have to manage the amount of protein and the amount of calories to make sure they get enough but they don't go catabolic. Catabolic means not having enough calories. And in case of someone with PKU, then they start metabolizing their own muscle in order to fuel their bodies. Muscle is meat and meat is high in phenylalanine.
To sort of balance this, we've had to feed her on the dot every three hours for the first year of her life. That meant during the night, I was able to sleep for two hours and 22 minutes during feedings. I had a timer on my phone and it woke me up and I fed her. That was just when she was drinking formula. She had a metabolic formula that was 80% of her nutrition and, as I said, a little bit of the breast milk.
When it came to table foods, when she was about three months old, things were getting more complicated. Our clinic suggested we purchase the low protein food list for PKU, which had been published since the ‘80s and was really the Bible in managing this condition. So I got it, and it's a book about the size and heft of a small town phone book. It has the phenylalanine content for 7,000 foods.
And they said, “Okay, you just look up each meal. You write down what she had. You add it up, and then you know what you can feed her for the next meal. And then you do it for the next meal. And then you're ready for the next day. And you just do this for 18 years.”
I can’t voice my reaction because it wasn’t polite, but that was not something I was ready to do for the next 18 years. It just didn’t make sense to me.
And I'm a problem solver, so give me a problem I'm going to jump on it and try to solve it. In this case, I had this field that was useful and I was able to create a proof of concept web app for managing her diet using some data that was publicly available. I sent it to the organization that had the low protein food list for PKU. We got a grant and we created this app. When Izzy was 11 months old, I traveled to a conference to launch it publicly so the rest of the community could use it as well.
Our family adjusted. I didn’t manage to get the insurance company to cover the special breads and pastas that she needed and so we started making them at home. Adam and I weighed out everything, all her meals at home and for daycare, and Sammy learned not to share her Goldfish crackers with her little sister.
When Izzy was a year old, we faced that challenge that so many young Brooklynites living in a rented apartment with two kids faced, and we decided we had to move West Chester or New Jersey. We chose the Garden State. We had an actual garden. We got two cats. Sam started taking the bus to school and we found a daycare that was willing to manage Izzy’s formula and food and calculate and write everything down for us.
So things felt like we’d managed this pretty well. And when Izzy was about four years old, and I remember exactly where we were. We were in our kitchen that had this hideous beige wallpaper with vegetables all over it, because we didn’t have any money left over after purchasing the house to renovate the 1980s kitchen. She looked up at me and she said, “Mom, Sammy doesn’t have PKU. When am I going to grow out of this?”
And it makes perfect sense. She saw her older sister, who was just a slightly older version of her, and that kid didn't have PKU. So in her mind, it made perfect sense that at some point, she wouldn't have PKU.
For me, in that moment, I realized that everything I'd done, educating our family, educating all the caregivers, teaching ourselves about this genetic disease which we'd never even heard of and was so rare, creating the app and changing my career to work for the organization that created the low protein food list, in all of that, I'd failed to explain what it meant to have a genetic condition to the one person who had that condition. Failed to explain that it was permanent, failed to prepare an answer to, “When will I grow out of this?”
I sat down on the floor criss‑cross applesauce and Izzy mirrored me. I took her hands in mine and I said, “Izzy, you know how Sammy and Daddy have blue eyes?”
And she said, “Yes.”
And I said, “And you know how you and I have brown eyes?”
And she said, “Yes.”
And I said, “Some things never change. Sammy and Daddy will always have blue eyes. You and I will always have brown eyes. Sammy doesn't have PKU, and you will always have PKU.”
She looked at me. She didn't say anything. She didn't have any follow‑up questions. I have no idea if she understood it or if she just moved on, as toddlers often do. I told her things would get better, that this would get easier to manage, and they have. But they've also gotten harder. She's not a little kid anymore. She's 12. She's a happy, clever, funny, charming kid who loves her friends and her family and her cats very deeply.
But adolescence is tough. She faces limits that affect almost every part of her day, and limits that her peers don’t face. She's still the luckiest of the unlucky. There are treatments available to her. We can prevent that catastrophic brain damage. She's physically healthy. She goes to school. She plays sports. And there are more options out there for her diet than there were for kids even born five or 10 years before her.
But we don't know what the future looks like for people with her condition. The oldest identified people with PKU are in their 60s. And frankly, doctors are giving the same speech to parents of newly diagnosed newborns today that they gave to my husband and I 12 years ago, and that they gave to others 10 and 20 and 30 years before that. “We have not seen significant progress other than making it not quite as bad as it could be.”
It's been 12 years since Izzy was diagnosed, and it's been eight years since she asked me when she was going to grow out of this. The simple answer is, I don't know. Gene therapy is promising, but it's complicated. Progress has been slow and needs are high.
What I do know is that we have to keep moving forward. We need to better understand these conditions. We need to work to improve quality of life every single day and improve treatments step by step. We have to keep growing.
So much has changed since Izzy was six days old and we got the diagnosis. So much more needs to change. As a mom and an advocate, all I can do is to try to help make that change happen, and help all of us grow out of this together. So that maybe in the future, another parent will have an answer for that question when their child asks.
Thank you.