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A Rare Disease Handed My Sweet Baby a Death Sentence — But I’m Fighting Like Hell to Save Him

Good Housekeeping logo Good Housekeeping 7/13/2018 Emily Lieber, as told to Ashley Edwards Walker

My son Ethan is four years old. Most kids diagnosed with Hunter Syndrome start to decline in healthy by age five. But I'm fighting like hell to save him.: My Sweet Baby Boy Is Living With Hunter Syndrome © Provided by Hearst Communications, Inc My Sweet Baby Boy Is Living With Hunter Syndrome Ethan is four years old. Most kids with Hunter Syndrome start to decline at age five.

As a little girl, I loved to play with dolls. And because I was a big sister, I helped care for my sisters. I even chose my profession - an elementary school teacher - because I am good with kids. So you won't be surprised to hear that I always knew I wanted to be a mom. Motherhood is the most natural thing in the world to me.

When I found out I was pregnant with my oldest son, Jonathan, I was thrilled. Everybody in my family really wanted a boy because we’ve only ever had girls for as far back as we can all remember. My husband Steven is a stereotypical guy in that he loves sports - we met while coaching a volleyball team together - and he dreamed of having lots of father-son adventures.

a man smiling for the camera: Steven and his youngest son Ethan, who has Hunter Syndrome. © COURTESY OF EMILY LIEBER Steven and his youngest son Ethan, who has Hunter Syndrome. Our wish for a healthy, happy baby boy came true when Jonathan was born in July 2011. It came true again in April 2014, when we had Ethan.

It wasn't until 2016 that we realized Ethan was sick. It started with hearing loss. Being a teacher and having an older child, I could see that Ethan was not developing his speech in the same ways Jonathan had. It was clear he wanted to communicate; he did a lot of gesturing and babbling in a way that sounded like language, but we couldn’t understand him.

I took him to the nearby Children’s Hospital of Philadelphia. When they confirmed his hearing loss, as an educator, my first thoughts were, Oh this is an easy thing to conquer. We’ll get him hearing aids and all the special services he needs and he’ll be fine. But they asked if they could do some additional tests, hypothesizing that it might be Mucopolysaccharidose, or MPS.

a screen shot of a boy: Brothers Jonathan and Ethan. © COURTESY OF EMILY LIEBER Brothers Jonathan and Ethan. The doctors told us Ethan likely had MPS I or MPS II, commonly called Hunter Syndrome. It’s caused by a genetic defect, a broken X-chromosome, and it’s passed from mothers almost exclusively to sons. It's very, very rare -only 500 cases in the whole United States, just 2,000 worldwide - but the kids who have it are unable to produce an enzyme that allows cells to recycle cellular waste in their bodies. It's like not being able to take the trash out of your home every week. At first it might not be so bad, but over time all that junk would accumulate and cause problems. That’s why most children with Hunter Syndrome seem healthy at birth and for a couple years afterward. But after that, there’s enough waste build-up to start causing symptoms.

Once I started doing research, I realized there were a bunch of signs, in addition to the hearing loss that were conducive with Hunter Syndrome. For starters, kids with Hunter Syndrome have a very distinct look: broad nose, round cheeks, thick lips and tongue, and bushy eyebrows. Ethan also has a Buddha belly. We’d always joked about it because he loves to eat and is constantly snacking. Turns out, kids with Hunter Syndrome often have protruding bellies because their livers and spleens are so full of cellular waste. He was also born with "Mongolian spots," birth mark-like blue patches that typically fade away as you age. And he had some joint stiffness. Most of us can extend our elbow completely straight, but Ethan’s will only go maybe 90% of the way. These little things didn’t seem like a big deal until we started lining them up and checking off the boxes.

The realization that it was indeed Hunter Syndrome was the most devastating blow of my life, and that's because the disease is terminal. In most cases, the child will progress until around age five. They might be a little slower at developing certain skills, but with therapy and support they can grow academically and behaviorally. But around age five they start to plateau. Within a year or two after that they start to decline. It’s kind of like having Alzheimer’s; they start to forget things. They won’t remember the people who care for them. Their organs become more compromised, creating respiratory and cardiac issues. Eventually they’ll lose their ability to walk, talk, eat, and breathe. And all along, the parents are just stuck watching their child disappear in front of them because there’s very little you can do for them medically. The dream of having two boys, and and watching them growing up together? That all vanished after Ethan's diagnosis; suddenly he had a very different future.

At first, my husband Steve and I wallowed in our grief. But once we were able to process everything, we jumped into action. Ethan now goes to a special school for children with hearing loss that requires a parent to be there at all times. We’re lucky because a lot of people in this situation end up with one parent being forced to quit their job to care for the child full-time, but Steve’s company had an opening for a night shift manager. Now he works Friday, Saturday, and Sunday nights and is able to be home with the kids during the weekdays. I teach during the day and am with the kids on nights and weekends.

There are times when Steve and I feel like life is good - we’re busy with work, everything seems okay for the moment - and then BAM! We’re hit with the reality of our situation.

a little girl is looking at the camera: Emily and her oldest son Jonathan. © COURTESY OF EMILY LIEBER Emily and her oldest son Jonathan. It was Steve’s birthday not too long ago, and we planned a romantic dinner for the two of us to celebrate. Arrangements were made well in advance to ensure the right people could stay with the kids. But the day of, Ethan got a fever. Of course, kids get fevers all the time. But with Ethan, a fever could be a sign of infection, so we had to rush him to the hospital. Instead of dinner, were in the emergency room until 4 a.m. Luckily, Ethan was fine and we got to bring him home with us. But those kinds of interruptions happen all the time.

Before Ethan was diagnosed, I wasn’t on social media. I didn’t see the point. But almost immediately after we learned he had Hunter Syndrome, I knew I had to seek out others who were going through the same thing. That’s how I met my good friends Marielle and Jason Marinoff. About a year and a half ago, they started the nonprofit foundation Sock-It 2 Hunter Syndrome, and I’ve joined them as treasurer to help fundraise.

Currently, there is only one treatment option for this disease because medical companies don’t see curing Hunter Syndrome as profitable, given that it’s so rare. I don’t blame the medical industry; at the end of the day, it’s a for-profit industry. But that means it’s primarily up to parent-led organizations like ours to raise money for further research.

Time is not on our side, however. Right now we’re working with researchers at Nationwide Children’s Hospital in Columbus, Ohio, to fundraise for a clinical trial using gene therapy. They have everything ready to start this month - except for the funding. So far our group and other parent-led groups have helped raise $1.8 million, and we need another $700,000 to get things going.

I know participating in a clinical trial sounds risky. But when you’re given two options as a parent - watch your kid die or fight for something that could give him a chance to live or at least have a better quality of life - you’ll risk anything to give your kid a shot.

Ethan just turned four, so he has about another year left before the time when most kids start to plateau. It’s this weird feeling of always being on pins and needles waiting for something bad to happen. Every day Steve and I question everything. Is Ethan not eating because he’s not hungry, or because he’s forgetting how to eat? Why isn’t he as chatty?

One small blessing is that because Ethan has cognitive delays, he has an “ignorance is bliss” mentality in terms of what’s happening. It’s Jonathan I’m actually more worried about. He’s seven now and he loves Ethan so much. He knows that his brother is sick, but I don’t think Jonathan fully grasps just how serious this is or the finality of what’s to come. Part of me wants to protect his innocence, but I know my time is running out as he gets older and starts to understand things more.

Our lives have changed drastically since Ethan’s diagnosis, but we’re not giving up. We never will. So here’s the plug: Everyone who can, please donate. If you can’t donate, share our video to help spread awareness about this illness and the clinical trial we’re trying to get off the ground. There are 500 families around the country racing frantically against the clock right now, knowing our kids could decline at any moment. We have to do everything we can to save them.

At the time of publication, Sock-It 2 Hunter Syndrome has raised $21,615 of its $750,000 goal. Visit Go Fund Me to donate, and follow Sock-It 2 Hunter Syndrome on Facebook, Twitter, and Instagram to help raise awareness.

Gallery: Doctors reveal the most miraculous recovery they’ve ever seen in a patient (Reader's Digest)


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