The parents of a baby diagnosed with ‘self-harm’ syndrome have shared the relatively normal early warning sign that something was wrong – which appeared just days after the tot’s birth.
Joe and Breanne Fusco were overjoyed to welcome their first child, Joseph Paul, into the world, following a straightforward pregnancy and caesarean birth.
But on the day they were due to be discharged, four days after he was born, Joseph was struggling to feed and hadn’t gained enough weight, so was taken to the NICU for tube feeding.
While under monitoring, he suffered a seizure the following day, and the family were transferred to Boston Children’s Hospital for genetic testing.
There, they found little Joseph had kidney damage before the results of the tests came back a month later, and he was diagnosed with Lesch-Nyhan Syndrome (LNS).
The rare, inherited disorder affects about one in 380,000 live births, and children with the disease get kidney stones, can’t control their muscles and develop an “irresistible urge to try to hurt themselves”.
“We were heartbroken – it was one of the saddest, scariest days of our lives,” Joe, a 33-year-old high school special education teacher from Massachusetts, US, told Need To Know.
“In an instant, our idea of what our family life would look like was altered – it changed our entire outlook on parenting.
“There was so much confusion, fear, sadness and anger.
“We had never heard of LNS.
“The geneticist gave us a printed summary that included what it was and common symptoms.
“The parts that stuck out to us the most were reading that most LNS patients don’t walk and, of course, the self-injurious behaviour.
“We worried about what Joseph’s life was going to look like, how these symptoms would manifest with him, and even how long we’d have with our baby boy.”
The first sign something was amiss was eerily normal, with the baby struggling to latch onto the breast and feed properly.
Joe said: “He didn’t gain enough weight to be allowed to leave the hospital.
“The hardest part was that we were all set to leave the hospital together and go home as a family, and then on the discharge day we were rushed up to the NICU.
“There was this sinking, helpless feeling as we watched our son hooked up to monitors and given a feeding tube.
“Then when he had a seizure, I remember just standing in the parent room and crying.
“Joseph had only come into this world four days prior, and watching all that he had to go through was truly heartbreaking for both of us.
“During all of this time at the hospitals, we felt scared, uncertain, and exhausted.”
After spending a week, including Christmas, in the NICU, a geneticist gave the diagnosis of LNS.
Joe added: “We did our own research and were horrified at first because online research immediately gives you the worst possible scenarios and outcomes.”
Symptoms of LNS include vomiting, irritability or screaming, and most affected children are underweight for their age.
Children diagnosed with the syndrome are almost always boys and it can affect their ability to ever walk or talk.
LNS symptoms seem to fall on a spectrum with some cases being milder than others – fortunately, Joseph’s is between the mild-moderate end of the scale.
Now four years old, he is able to communicate verbally and physically, his kidneys health is maintained with medication, and he doesn’t show any signs of self-harm.
But he isn’t able to walk on his own, and his family frequently have appointments with doctors and service and equipment providers who work hard to support him.
Joe said: “Physically, the hardest obstacle to overcome has been his mobility issues.
“Joseph uses a wheelchair and gait trainer to get around.“His expressive language is delayed for his age.
“He is able to string together two to three words at a time and is working on multi-syllabic words.
“We are currently in the ‘Why?’ stage that most toddlers go through, where Joseph is constantly asking us why we are doing something – it’s super fun!
“On the flip side, his receptive language is on par with same-aged peers and has been since he was an infant.
“He understands everything that happens around him, but just needs some help getting his point across sometimes.
“Emotionally, it’s hard to watch other children of Joseph’s age play independently while Joseph depends on others to be involved.
“He wants to be included in everything he sees other kids doing, but sometimes it’s just not possible.”
Despite his challenges, Joseph’s parents say he is happy and thriving.
Dad Joseph said: “We’re so proud of how far Joseph has come despite LNS.
“We wish people knew that he’s so much more than his diagnosis.
“He goes to school each day and constantly learns new things – and he never gives up.
“He meets every challenge, whether it’s walking in his gait trainer, writing and colouring, or trying something new, all with determination and a big smile.
“He loves to play games and meet new people.
“He also has a great sense of humour and loves to laugh.
“In many respects, he’s a regular four-year-old boy.
“He just needs a little extra help and support to be included.”
While his future is unclear, the family are hopeful.
Joe said: “Some people with LNS lived well into middle age, while some sadly pass away during the second decade of life.
“Unfortunately, many LNS patients are misdiagnosed early on and don’t learn what it really is until five or more years into their lives.
“Luckily, Joseph was diagnosed with LNS so early in life that we’ve been able to manage it as effectively as possible for over four years, and we’re hopeful that he will live a long, happy life.”
The family shares Joseph’s journey on Instagram, @living_with_lns, and say they have found a deep sense of community since he was diagnosed.
Joseph said: “His diagnosis, while devastating, has somehow brought out the best in our family.
“He has the most supportive and loving grandparents, aunts and uncles, and friends.
“There has not been one time when we have needed help and it wasn’t available, whether it was a ride, medicine pick-up, or equipment help.
“It’s truly amazing how something so bad can bring people so much closer together.
“We’ve met some amazing people over the past four years and made some beautiful connections.
“And we’ve learned how to be the parents that Joseph needs, not the ones we originally thought we would be.
“There are still days of sadness and anger, but they’ve become rarer as time has passed. Mostly, we feel lucky to be on this journey with Joseph.
“We’re all incredibly grateful to have him in our lives, challenges and all.”
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