SPRINGFIELD, NJ - For Marc and Lauren Weissberg, their daily routine is like many other families in town. Making sure breakfast is eaten, clothes are put on and backpacks are ready before the couple sends their sons Holden and Reid out the door for school.
Add in baby Jonas, and things can get pretty complicated. But the Weissbergs also have another challenge. Holden lives with an extremely rare genetic condition.
"It's called dup15q syndrome. It's a rare disorder, so currently there's about 1,300 people worldwide who have this disorder," Lauren explained during an interview. "Dup15q refers to chromosome 15q, so on that particular band, there's a duplication.
"There's different variants, but the two most common are called interstitial, which is where the duplication is actually on the chromosome, and then there's something called isodicentric, which is what Holden has and what that is is where he has two copies of the 15. So he actually has a total of 47 chromosomes, whereas we should have 46."
Chromosome 15 plays an important role in the body. As a result of the duplication, around 50 percent of children diagnosed with dup15q will experience at least one seizure during their lifetime, with some experiencing more. Dup15q also results in developmental delays, cognitive impairment and symptoms of autism, all the way up to a full diagnosis.
Another result of dup15q syndrome is hypotonia or poor muscle tone. As a result, children diagnosed with the condition will have a slower time table when it comes to developing gross motor skills, such as walking and sitting. In addition, fine motor skills are also slower to develop. Often times, children will also be nonverbal and have trouble with social cues.
Despite all that, Marc and Lauren work very hard to try and give Holden a normal life.
"We do the best that we can I would say," Lauren said. "When you see kids with disabilities, I think sometimes there's this kind of misconception that a disability looks a certain way. So sometimes to look at him, people will say something, and I'm going to say a word that we don't typically use, and some people will say something stupid like 'Oh, he looks so normal.' What does that even mean?"
Lauren added, "We do the best that we can. It is a struggle with him. He has so many challenges. Physically, like getting around and walking...he [also] doesn't respond to his name, so elopement is an issue. We don't normally go to many crowded places where we could potentially lose him because that's very scary."
In order to help with some of those issues, Holden goes to a special needs school, which he has been going to since age three. The goal is to get him in the routine of learning.
"Right now, I think that the school is helping," Marc said. "And he also has outside therapy as well to get him to help assimilate as much as possible with his daily life as well as potentially maybe just going out to the library and listening to someone read books."
Even in these circumstances, every cloud has a silver lining. For the Weissbergs, Holden's diagnosis was the basis for their fundraising and advocacy efforts. After they learned he had dup15q, they set up a fundraising effort called 'Hope for Holden.'
"The first fundraising effort that September over at CKO, we raised $10,000 dollars that first year," Lauren said. "And we've done it subsequently every year. That following March, I was approached by the alliance (the dup15q fundraising and awareness group) and they actually hired me on part-time to do outreach and awareness. So I did that until this past January, and now I've just joined the board. So now I'm on the board of directors."
The Weissbergs have also found a welcoming network in the dup15q community. As Marc explained, finding a group of people who knew what they were dealing with made it easier to ask for and receive the information they needed.
"I feel that the first time we met a bunch of families...we were the new family," he said. "And I was just asking questions to all of the different parents in terms of 'what does this mean,' 'what does this mean.' Just asking a lot of questions.
"And I'd say now that we are two and a half years in, I'm definitely not the expert in dup15, but we also joined a Facebook page for parent support, and I'm able to answer question's now. So now I'm hopefully on the other end as well of being able to provide support to newer parents on the page and newer parents with dup15 as well."
The Weissberg's son Reid also works to fundraise for his brother.
"I've raised $55 in one day," he beamed as his parents explained that he sold shirts to help raise the funds.
While the Weissbergs understand Holden will have multiple challenges in his development, they are committed to raising him as best as they can. And for Marc, in particular, this experience has given him a new outlook on life.
"Raising a special needs child takes a lot of commitment and a lot of patience," Marc said. "It takes someone that is going to spend the time with their child and to be able to realize that they are going to see other kids his age progress faster than he is, and it's okay to be sad. But you have to continue to move forward and understand that you're going to work at [his] pace, and not at a typical pace."
He added, "It changes your life when you raise a special needs child, a child that has dup15, and you realize the simpler things in life are really what you need...it's really important to spend the time with your family and the ones you love, and be around people that support you in a positive manner."
World Rare Disease Day is being celebrated this year on Feb. 28, 2019. for more information about dup15q, click here.