A newborn baby has been diagnosed with a rare disease after his parents noticed he was having trouble breastfeeding just days after birth.
Joe and Breanne Fusco from Massachusetts were overjoyed when they welcomed their first child, Joseph Paul, in late 2019 after an uneventful pregnancy and birth.
But on the day they were supposed to go home four days later, Joseph was having trouble eating 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 further care.
There they discovered that the baby had kidney damage and doctors performed a series of tests, which revealed that Joseph had Lesch-Nyhan syndrome (LNS), a rare genetic condition that affects approximately one in every 380,000 live births.
This ‘devastating’ disease causes chronic kidney stones, loss of muscle control and self-harming behaviour such as head banging and biting in toddlerhood. Patients usually succumb to the disease in their 30s.
Joseph Paul Fusco’s parents noticed he had difficulty feeding after birth and doctors admitted him to the neonatal intensive care unit
Joe, a 33-year-old special education teacher, said: ‘We were devastated – it was one of the saddest and scariest days of our lives.
‘In the blink of an eye, our idea of what our family life would look like changed. It changed our whole perspective on parenting.
‘There was so much confusion, fear, sadness and anger. We had never heard of LNS.
“The geneticist gave us a printed summary of what it was and the most common symptoms. The parts that stood out to us the most were that most LNS patients can’t walk and of course the self-harming behavior.
The father continued, “We were worried about what Joseph’s life would be like, how his symptoms would manifest, and even how long we would have to live with our baby boy.”
LNS occurs almost exclusively in boys and is caused by mutations in the HPRT1 gene.
As a result, the body does not produce enough of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), causing a build-up of uric acid, a waste product of the body.
HGprt also plays an important role in regulating purine, a chemical used to make DNA.
A deficiency of HGprt causes neurological problems, such as difficulty speaking and walking. In some patients, involuntary writhing movements and spasms can occur.
Symptoms of LNS include vomiting, irritability or screaming, orange-colored deposits in a baby’s diaper, blood in the urine, and most affected children are underweight for their age because the disease causes frequent vomiting and difficulty swallowing due to muscle spasms.
Eighty-five percent of LNS patients exhibit self-injurious behavior, which usually begins between the ages of two and three years.
These actions may include repetitive biting of the lips, fingers, and hands and repeated banging of the head against hard objects.
Scientists don’t know exactly why LNS patients hurt themselves, but some to research have assumed that it could be because The condition causes damage to dopamine neurons in the brain, meaning a patient may not be aware that they have a deficiency.
The life expectancy of an LNS patient is between 20 and 30 years.
Joseph spent his first Christmas in the hospital after failing to gain weight and suffering a seizure
The first sign that something was wrong with Joseph was something that many newborns experience: the baby had difficulty latching on to his mother’s breast and feeding properly. This was possibly because he already had LNS, a condition that causes difficulty swallowing.
Due to his nutritional problems, he did not gain enough weight and the new family of three was not allowed to leave the hospital.
Joe said: ‘The hardest part was that we all had to leave the hospital together and go home as a family, and then on the day of discharge we were rushed to the neonatal intensive care unit.
‘We felt helpless and depressed as we watched our son being put on monitors and given a feeding tube.
‘When he had a seizure, I remember standing in the parents’ room and crying.
‘Joseph had only been born four days ago and it was heartbreaking for both of us to see what he had to go through.
‘During all that time in the hospitals we felt scared, insecure and exhausted.’
After spending a week in the neonatal intensive care unit over the Christmas holidays, a geneticist broke the news to the new parents: their son had LNS.
Joe added: ‘We did our own research and were initially shocked because online research immediately produces the worst possible scenarios and outcomes.’
The symptoms of LNS fall on a spectrum, with some cases being milder than others. Joseph’s falls between mild and moderate.
There is no cure for LNS. Instead, treatments are given to manage the symptoms and side effects of the disease.
Joseph is now four years old and can communicate verbally and physically. Thanks to medication, his kidneys are healthy and he shows no signs of self-harm.
But he cannot walk on his own, with the help of a gait trainer or wheelchair. His family meets regularly with doctors and service providers and equipment suppliers who work hard to support him.
Joseph has Lesch-Nyhan syndrome (LNS), a rare genetic condition that affects approximately one in every 380,000 live births
Joe said: ‘The biggest physical obstacle he had to overcome was his mobility issues.
‘Joseph uses a wheelchair and a walking trainer to get around [and] his expressive language skills are lagging behind for his age.
‘He can string two to three words together at a time and is working on multi-syllable words.
“We are now in the “Why?” phase that most toddlers go through, where Joseph is constantly asking us why we are doing something. It’s super fun!”
The father added: ‘On the other hand, his receptive language skills are comparable to his peers and have been since he was a baby.
‘He understands everything that is happening around him, but sometimes needs some help to get his point across.
‘It is emotionally difficult to watch other children Joseph’s age play independently, while Joseph is dependent on the involvement of others.
“He wants to join in with everything he sees other kids doing, but sometimes that just isn’t possible.”
Despite all the challenges, Joseph’s parents say he is happy and thriving: ‘We are so proud of how far Joseph has come despite LNS.
“We wish people knew that he is so much more than his diagnosis. He goes to school every day and is constantly learning new things – and he never gives up.
‘He takes on every challenge, whether it’s walking in his walker, writing and coloring or trying something new, he does everything with determination and a big smile.
“He loves playing games and meeting new people. He also has a great sense of humor and loves to laugh.
“In many ways, he’s a regular four-year-old boy. He just needs a little extra help and support to fit in.”
Although his future is uncertain, the family is hopeful.
Joe added: ‘Some people with LNS live into middle age, while others sadly die in their second decade of life.
Unfortunately, many LNS patients are misdiagnosed early on and do not know what it really is until five years or more later.
“Luckily, Joseph was diagnosed with LNS so early in his life that we have been able to treat the disease as best we can for four years now. We hope he will live a long and happy life.”
Joseph’s father Joe said: ‘In many ways he is a normal four-year-old boy. He just needs a little bit of extra help and support to fit in’
Joseph cannot walk independently and needs support when standing on his feet or needs a wheelchair or walking trainer
The family shares Joseph’s journey on their Instagram @living_with_lnsand say they have experienced 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 father said, “He has the most supportive and loving grandparents, aunts, uncles and friends.
‘There was never a time when we needed help and it wasn’t available, whether it was transportation, picking up medicine or helping with equipment.
“It’s truly amazing how something so bad can bring people so much closer together.”
Joe continues: ‘We have met some great people and made some wonderful connections over the past four years.
“And we’ve learned how to be the parents Joseph needs, and not the parents we originally thought we were.
“There are still days of sadness and anger, but they have become rarer as time goes by. Mostly we feel lucky to be on this journey with Joseph.
‘We are all incredibly grateful that he is in our lives, with all the challenges that come with it.’