Parents reveal incredibly subtle sign their baby was suffering from terrifying 'suicide disease'

A newborn was diagnosed with a rare disease after his parents noticed he was having trouble breastfeeding just days after he was born.

Joe and Breanne Fusco, from Massachusetts, were overjoyed to welcome their first child, Joseph Paul, in late 2019 following an uncomplicated pregnancy and birth. 

But on the day they were due to go home, Joseph was struggling to feed and hadn't gained enough weight. He was taken to the neonatal ICU for tube feeding.

The next day he had a seizure and the family was transferred to Boston Children's Hospital for more advanced care.

There, they found the infant had kidney damage and doctors ran a battery of tests, which revealed Joseph had Lesch-Nyhan syndrome (LNS), a rare genetic disorder that affects about one in 380,000 live births.

The 'devastating' disease causes chronic kidney stones, loss of muscle control and self-harm behaviors like head banging and biting in toddlerhood, and patients usually succumb to the disease by 30.

Mr Fusco, a 33-year-old special education teacher, said: 'We were heartbroken – it was one of the saddest, scariest days of our lives.

'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 behavior.

The dad continued: '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.'

LNS almost exclusively affects boys and is caused by mutations in the HPRT1 gene. 

It leads to the body not producing enough of an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HGprt), which leads to a buildup of uric acid - a waste product created by the body.

HGprt also plays a vital role in regulating purine, which is a chemical used to make DNA.

A deficiency in HGprt causes neurological issues like struggling to speak and walk, as some patients may experience involuntary writhing movements and spasms. 

Eighty-five percent of LNS patients experience self-harm behaviors, which most often begin between two and three years old. 

The actions may include repeated biting of their lips, fingers and hands and repetitive banging of their head against hard objects. 

Scientists aren't exactly sure why LNS patients self harm but some studies have posited it could be because the condition causes damage to dopamine neurons in the brain, which may make a patient unaware they have deficits.

The lifespan of an LNS patient is between 20 to 30 years old. 

The first sign something was amiss with Joseph was something a lot of newborns experience - the baby struggled to latch onto his mom's breast and feed properly, possibly because he was already suffering the effects of LNS, which causes difficulty swallowing.

Because of his feeding issues, he didn't gain enough weight and the new family-of-three wasn't allowed to leave the hospital . 

Joe said: '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 over the Christmas holiday in the NICU, a geneticist delivered the news to the new parents: Their son had 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.'

LNS symptoms fall on a spectrum, with some cases being milder than others - Joseph's is between the mild-moderate end of the scale.

There is no cure for LNS, instead treatment is given to manage symptoms and side effects of the disease. 

Now four years old, Joseph is able to communicate verbally and physically, his kidneys remain healthy with the help of medication and he doesn't show any signs of self-harm.

But he isn't able to walk on his own, using a gait trainer or wheel chair. His family frequently has 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 [and] 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!'

The dad added: '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: '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 coloring, 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 humor 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 is hopeful.

Joe added: '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 share Joseph's journey on their Instagram @living_with_lns, and say they have found a deep sense of community since he was diagnosed.

And despite the 'devastating' diagnosis, it has 'brought out the best' in the family.

Joseph's dad said: '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.'

Joe continued: '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.'