In many ways, Ethan Lieber is a typical 4-year-old boy.
He loves swimming, singing, dancing, spending time with his family and playing with toys.
But Ethan is one of an estimated 2,000 boys worldwide — and one of about 500 in the United States — afflicted with Hunter syndrome, formally known as mucopolysaccharidosis type II (MPS2). The rare metabolic disorder, most typically found in young boys, is caused by a missing or malfunctioning enzyme that causes a buildup of cellular waste.
Right now, there is no cure, but Emily Lieber is doing her best to find one.
When Ethan was diagnosed two years ago, his mother had never heard of the disease.
It started when Ethan was a little more than a year old and, as an elementary school teacher, Lieber noticed Ethan wasn’t speaking correctly. His speech came out more as babbling noises and he couldn’t understand what his family wanted from him, which made him frustrated, she recalled.
With suspicions he was experiencing hearing loss, she brought him to Children’s Hospital of Philadelphia. When that was confirmed, Ethan was taken to see a geneticist; when a child that young has hearing loss it is often linked to some other cause. The geneticist diagnosed Ethan with MPS2, or Hunter syndrome, which is categorized as terminal.
“As a parent, when at first you just think you’re dealing with a little bit of hearing loss and then all of a sudden you’re now dealing with a much more complicated, life-limiting disease,” she said, “it’s pretty devastating, to say the least.”
He’d shown other symptoms that Lieber said they had chalked up to typical childhood illnesses, like ear infections. He also had a distended abdomen, which they thought was just a result of his enthusiasm for eating.
“We used to joke that he loves to snack, so he’s got this little pot belly,” she said, “where in fact, Ethan, his liver and spleen were storing the waste, which was pushing his abdomen out.”
The disease causes the children affected to plateau at a young age.
By 6 to 7, most kids with Hunter syndrome will stop talking, Lieber said. They’ll stop understanding what the people around them want from them and they won’t recognize their parents. They’ll slowly start to lose the ability to eat, walk and sleep.
For now, Ethan has regular visits to CHOP for enzyme infusions, which is the only short-term “cure” available for Hunter syndrome.
On a recent Thursday, Ethan had his once-a-year metabolic appointment with the doctor that oversees his case as well as a physical therapist and a child psychologist, to keep an eye on his cognitive and neurological abilities.
But for four or five hours once a week, he visits CHOP for infusions, in which he gets a synthetic version of the enzyme his body doesn’t make. However, it only holds off the disease progression briefly.
“It’s like a temporary treatment, but it’s really the only thing we have right now.”
To paint a picture of what Ethan and others who are affected by Hunter syndrome go through, Lieber created a chart contrasting all the appointments Ethan had with doctors and specialists over a given period with those of his older brother Jonathan, 7.
While Jonathan had maybe seven appointments over the two-year span, Ethan had close to 300.
In the years since Ethan’s diagnosis, Emily Lieber and her husband, Steve, have joined other families in the chase of a cure through fundraisers and means of raising awareness. Meredith Elementary School, where Lieber teaches, for instance, has held basketball tournaments to raise money.
A children’s hospital in Ohio is ready to start a gene therapy trial that could potentially cure the disease; all that is needed is $2.5 million, which would cover the costs for eight or nine children.
She works with the foundation Sock-It 2 Hunter Syndrome as they sought to reach that goal. Right now, they are short $750,000. So far, they have raised nearly $37,000 of that goal.
“I mean, if he could receive this treatment it could be a serious game changer in not just his life but to generations of boys that are going to come after him.”
Her family created a funny — “Well, I think it’s funny,” she laughed — viral video in which they performed skits and encouraged others to “skip the challenge, fund the cure.”
The video raised $20,000 within a week or so.
“When you know that there’s something that’s right there, and ready for Ethan or some of the children to try and all it is is money that’s holding you back,” she said, “it just seems like such a ridiculous thing that’s stopping your kid from getting help and really could potentially save him or a lot of the boys affected, so there’s no reason to not fight, fight, fight.”
Since his diagnosis, Ethan has been a student at the Clarke School for Hearing and Speech and his family, who belonged to Kesher Israel, has strived to keep things as normal as possible.
Lieber credits the Jewish community and her and her husband’s family for helping keep them grounded.
“Two years ago, we were talking about Bar Mitzvahs, and now we’re at this place with Ethan where we hope we can get him to that point in his life,” she said. “It doesn’t diminish the spirit of celebration and togetherness we have.”
While Lieber sounds collected when explaining Ethan’s situation, she admitted it’s not easy.
“There isn’t a moment every day where I don’t think my husband and I get very, very sad about the situation,” she said. “The one thing that keeps us going is that we’re still raising children. We have Jonathan who’s such a wonderful older brother, and we try to keep things as simple and easy and normal as possible because we don’t have just one life we’re concerned about — it’s two.
“So we’re going to just try as hard as we can to keep happy moments happy and do our best to get through the tough ones together.”
To donate, visit gofundme.com/sockit2huntersyndrome.