Social media is weird, right? Its like this dichotomy between really authentic connections and feeling like everything is a fraud. A facade. Sometimes I can’t get enough and sometimes I can’t get away fast enough.
In between those extremes I’ve discovered that real people are doing real work that has purpose and meaning. It’s not hard to find, actually. It’s not even difficult to start a conversation with these social entrepreneurs. They’re women who have been moved by an experience or a diagnosis or had their illusions smacked around into something different. They stare it in the face and decide they’ll move forward with ambitions rooted in what they need, what their child needs, and flowered with what the world needs, too.
We met Sara Rubenstein on Instagram. So weird. But so perfect, too. How else would we have connected? Sara has two daughters. Both are adorable, both are loved deeply by their parents, and one of them has Niemann-Pick Type C. We’re going to let Sara tell you her own story, because her words are powerful and this is her story to tell, not ours, but we want you to know that 25% of profit from all lockets this month go to finding a cure for NPC.
1. Tell us about your sweet girl. Anything you want us to know, anything you want anyone to know.Marian is bursting with goodness. Three years ago she entered the world filled with love. She doesn’t “look sick” but already in her three short years, she’s been diagnosed with a fatal neurodegenerative disease, been under anesthesia over forty times, fights hard for every step forward, and does it mostly with a smile, love and determination. Beneath her smiles, she is quietly fighting for her life. She loves her big sister and friends. She is sweet, loving and playful. She is strong and brave. She is determined. She is charming and dynamic and goofy. She is happy. Her story starts when she was only a few months old. She was a healthy baby as far as anyone knew and developed normally for a few months, although she always had low muscle tone. The doctors weren’t concerned. She started to fall behind when it was time to sit up. She couldn’t hold herself up for more than a minute or two, and she’d try over and over, always with a huge smile. It was hard to make sense of it at the time and we wanted to be the cool and collected second time parents, as we also are proud parents to big sister Emily who is 2 1/2 years older than Marian. We got physical therapy going, which helped her tremendously, she progressed slowly but steadily. Marian did so many things well, and for many months it seemed we were moving through these steps as a precaution only. And then it changed. When Marian turned one, she had an appointment with a neurologist at Children’s Hospital Los Angeles. Her neurologist felt her abdomen and said, “I think I can feel her spleen and liver,” a huge early warning sign for a metabolic storage disorder.After more months of testing, specialists, labs, unanswered questions, and therapies we started to zero in on what was happening. For a long time Marian was building her speech at a typical rate, and then it started to slow down. She’d wave and say hi to me one day, and then the next day it was like she never knew how to do it. She stopped gaining weight and wasn’t growing well. She often looked tired and like she didn’t feel well. She had a sweet and easy going personality but she wasn’t trying to participate like normal toddlers, she would more sit back and watch with a smile. We didn’t want anything serious to be wrong, but these thing became harder to not confront. It was a very hard time. On World Rare Disease Day in 2017, Marian was 18 months old and we got the call that she has Niemann-Pick Type C, diagnosed through whole exome sequencing. I had been reading about NPC since we found out her spleen and liver were enlarged – about five months prior. It was devastating.I didn’t want Marian to have NPC because NPC is fatal and there is no cure. Marian was only 18 months old and she was being given a death sentence – and not only that, one where we’d have to watch her smile slowly fade, her crawling and cruising slow and then stop, turn to feeding tubes, hospital beds, wheelchairs, just to keep her alive. One of the worst things I thought of was the day, without help, she might hear my voice or feel my hand holding hers or look at my face and not know I was her mother. All of these things happen to children with NPC. It’s something so horrible I didn’t even know it and similar diseases existed until that time. Well, Marian is tough. She didn’t know she had been given this diagnosis and I realized, she is strong, she is brave, and she is fighting, But she can’t fight alone and needs us to help her. There were two clinical trials going on at the time, both of which she was too young for. But, one of the trials, for a drug called VTS-270, was available through compassionate use and after talking to NPC parents on the phone, we heard the same thing over and over – it is working, It is slowing or even stopping the neurological progression. Every day counts, get this drug for her to help her fight. So, Marian, at 19 months became a frequent flier and started flying to Rush University Hospital in Chicago from Los Angeles every other week. She was so good. I’d wake her up at 5 am to leave for the airport, and she’d rub her eyes, cuddle her blanket and smile. We arrived in Chicago for the first time completely afraid. We didn’t know if the drug would work for Marian, if she’d tolerate it, and how long it would work for. We soon found out Marian was the youngest patient, at the time, in the world to try it – and also one of the earliest symptom wise. We didn’t have any answers to our questions because the doctors were partially learning from her how it would work in someone so young. The treatment involves going under general anesthesia and getting a spinal injection of the medicine into her spinal fluid so it can travel into the brain. Kind of intense. This is a treatment buy time, not a cure, but it holds the hope. After her first couple treatments we saw the sparkle come back into her eyes. She started laughing and playing and talking more. She started gaining more weight and looked less tired. She seemed steadier on her feet. After five treatments she took her first steps. She was SO proud witch each step forward. We flew back and forth to Chicago every other week for three months, and then were able to switch to Children’s Hospital Los Angeles for the treatments. Marian has been doing this every two weeks for almost half of her life, and she will need to continue this every two weeks for the rest of her life – or until a cure. She’ll never remember the time before. She is so so lucky and she pushes herself so hard to learn and get stronger. Today she looks and acts close to her age, looking at her and watching her, you would never know what she is facing. She just turned three, and while she’s about a year behind with her physical skills, she’s still making progress and getting stronger. She can run (it’s a slow run), climb, walk, and yesterday she jumped for the first time. Her speech can be unclear and she needs speech therapy twice a week, but she talks non stop. She loves dresses, music, swimming, dolls, and horses. She loves to read books and dance. She’s taking her first ballet class. Her big sister is her idol. She makes jokes and play with friends. She loves to sing Twinkle Twinkle Little Star. If there is an available lap she wants to sit in it and engage. The other day at preschool I went to pick her up and didn’t see her. I saw two healthy and adorable girls holding hands and walking through the grass together playing, and I thought, I hope Marian can look that good one day. I hope she will have friends her age, be that steady, fit in socially, understand how to play, be that carefree and happy. I felt sad because I knew what she is up against. I kept scanning the playground and then looked back at the two girls holding hands and realized, one of those little girls was Marian.
2. Tell us about your organization, Hope for Marian. When did you start it and what do you hope it will do?Hope For Marian was inspired by Marian’s NPC diagnosis. As a foundation we have three goals: (1) our primary goal is to help fund research to find a cure and more effective treatments for NPC; (2) raise awareness about NPC; and (3) improve patient access so NPC patients can access necessary treatments, which often are only available hundreds to thousands of miles from home. Our current projects include funding patient access resources and NPC research labs at The University of Michigan, The University of California at San Diego and Notre Dame University in partnership with The Ara Parseghian Medical Research Fund and Niemann Pick Canada. We also work collaboratively with a group of scientists and family foundations which are part of Support of Accelerated Research for NPC to streamline our collective efforts and also are part of another NPC foundation’s collaborative group for newborn screening. We knew right away we wanted to jump in with both feet and raise money and awareness for NPC. For the first time, the disease is potentially approaching a turning point, and the kids and adults fighting NPC today could be some of the first survivors. But only with a tremendous push forward. Thanks to other foundations before us building research pathways, scientists and doctors are learning much more about the disease and exploring many potential treatments and making progress. But this takes a tremendous amount of time and effort, and the world of science moves slowly. For Marian and others alive with NPC today the clock is ticking. One of the hardest things to face is that children alive today might just miss the developments that could save their lives. Hope For Marian’s aim is to help the research advance faster and arrive in time for those fighting battles today and those diagnosed in the future.
3. What should we know about Niemann Pick Type C? Niemann-Pick Type C is one of the worst diseases you’ve probably never heard of. It’s sometimes called “Childhood Alzheimer’s.” It’s part of a group of metabolic genetic problems called lysosomal storage disorders. It’s a mouthful. It’s a recessive genetic condition, so mom and dad don’t know that they’re carriers and passing it on to their baby. It effects about 1 in 100,000 births approximately.One of the challenges about NPC is it doesn’t start at the same age or in the same way. Some babies are born showing immediate signs and don’t survive their first year. Others live seemingly perfectly healthy and typical lives until their teenage or even adult years before symptoms start. The most common age for symptoms to start is late preschool or early elementary school. Without treatment, half the patients don’t live past age 10. For Marian, because she had developmental delays since infancy, her natural progression of the disease would likely be much faster than the average patient. We hope to never find out. How it works scientifically, is every cell in your body has something called a lysosome. This is like the garbage disposal in your cells to move extra stuff through and get rid of it. With NPC, the lysosome can’t get rid of cholesterol and some other fats. This causes a build up in the cells until the cells start to die. The spleen and liver try to filter out this build up, so they are some of the first organs to show an impact. The cell death in the brain causes neurodegeneration. It is fatal. How this works in people is devastating. Early symptoms can start with an enlarged spleen and/or liver. This can often get medically dismissed as it’s often an isolated symptom, sometimes for months or years, before other symptoms begin. Developmental delays can be present, or kids can develop totally on track for many years. Then the disease hits. Clumsiness, falling down, or a new wobbly walk can pop up. Learning delays might pop up unexpectedly at school, then cognitive decline. Speech becomes unclear and then stops. Tremors and shakiness start. The muscles can contract causing hands and feet to turn inwards. Swallowing become difficult and then stops. Kids go from running and jumping to not being able to move their bodies at all. Or talk. Or eat. Or smile. Some kids and adults get seizures. Many of the patients get dementia. These things happen one after another after another while the family watches, helpless to stop it, until it ends in death, often times from pneumonia.There are currently no FDA approved treatments for NPC. There is currently no cure. So far, no one has survived NPC. But there is a whole lot of hope for today in current clinical trials and further research.
4. What’s the best part about being Marian’s Mom? Everything! Well, almost everything of course 🙂 Marian has unwittingly launched us into a group that we never hoped to join, but since we have to face the music, we have learned so much from. Anything I’ve ever felt was too hard or too sad or too much is quickly put into perspective. It is so inspiring to see her quiet determination and kindness move her through life past what seemed like insurmountable challenges. For each step forward that she makes, it seemed like at one point she wouldn’t get there. Walking seemed impossible, Speaking in sentences felt unreachable. But she is doing both of these things now. We’ve been really lucky to have received so much support. We did a local news story after Marian was diagnosed that got picked up all over the country and world. We did some interviews and campaigns to help raise awareness and have received some amazing support to help keep going. This means so much to us and gives us hope. The diagnosis of Niemann-Pick Type C for Marian is one of the darkest times of our lives, but the love and support that has poured out to help save these children, including Marian, have also lifted us to some of the most beautiful times of our lives. We are so grateful. For our experience, this is because of Marian. And I think that is the best thing about being her mom, to see the love we see in her beam out and connect with people all over the world and come back to her in beautiful and meaningful ways, ways that could help save her life.
5. Share ANYTHING else, too. We’re all eyes and ears.I probably gave too much info already! I hope your head isn’t swimming!Talking about NPC can be really confusing because the treatment she’s getting is doing so much good, but still isn’t a cure. It’s absolutely necessary for her, but it only helps her brain and probably isn’t going to stop the neurological impact forever without more support. Her liver, lungs and other organs are still at risk from NPC, just not as fast as the brain is. Her treatment that she’s getting is pending FDA approval.Also, just a shout our to Marian who is SO brave! She receives so much love at CHLA and Rush when she goes. She’s so tiny compared to all the doctors, nurses and hospital equipment, but she’s so determined to face this that she’ll even walk back into the operating room for her treatments. It’s pretty impressive! We have a Facebook and Instagram page for Hope For Marian and also our website – www.hopeformarian.org. “
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