Stories from the Heart
Living with Classic Lesch-Nyhan
Every family’s journey with Lesch-Nyhan syndrome is unique — filled with moments of hope, love, and courage, as well as challenges and sadness. This page is a safe space to share the full spectrum of experiences, so families can connect, feel understood, and find encouragement in both the joys and struggles of daily life.
Whether your story is filled with hope, lessons learned through challenges, or both, your experience matters. Sharing it can inspire and comfort others in the Lesch-Nyhan community.
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📝 Use the Written Form Template – This guided template includes 10 simple questions to help you organize your story. You can answer only what you feel comfortable sharing, and even short answers are meaningful. We can have one of our Volunteers help write the story if you would like.
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I have grown as a person over the seventeen years I have been a parent to a child with Lesch-Nyhan Syndrome, in patience and perspective, and in my ability to draw on the things that give me strength. I have my son Grayson to thank for this, among the many gifts he has given me. Last summer we were camping in the Upper Peninsula of Michigan and Grayson was having a difficult time. One night, I was awake almost all night with Grayson in the tent. He had some sort of muscle pain that he was unable to explain, but that seemed to be either shoulder or neck related, and as is common, pain of any sort kick starts what we call “Lesch-Nyhan behaviors.” These compulsive self-injurious behaviors are definitional to Grayson’s disorder. The poor guy was beyond miserable, and I was lying beside him in my sleeping bag, spooning and attempting to help him. Basically, I was trying to hold his head to prevent what we’d come to call “the scorpion,” a new Lesch-Nyhan behavior that showed up this summer. From his sleeping position on his stomach, he had begun repeatedly rearing his head up creating a 90-degree angle to the rest of his body. The resulting self-injury was additional neck and shoulder pain and evident sleep deprivation.
Grayson often talks to himself while he falls asleep, but this night he spoke directly to “Lester,” his nick name for the self-destructive urges caused by Lesch-Nyhan Syndrome. We’ve encouraged him to externalize Lesch-Nyhan compulsions as a kind of alter ego, to help him understand them and to help him accept that they are not his fault. Over the long stretch of nighttime hours, Grayson went from saying, “Dammit Lester, take a backseat, please. I don’t want to be up at all.” To, “Fuck you Lester, I’m just fucking tired, okay!”
At one point out of desperation, I began singing a favorite Buddhist song:
And when I rise, let me rise
Like a bird, joyfully.
And when I fall, let me fall
Like a leaf, gracefully, without regret
For at least 15 minutes, I repeated those two verses over and over. I sang the consistent inconsistency of life, cycling through the inevitability of rise and fall, success and failure, pleasure and pain, joy and sorrow. Grayson joined in sporadically, usually on the second verse, saying “fall,” or “regret.” He gradually settled down and asked me to keep singing every time I paused.
For me, it became a meditation. There in the dark tent with a sick child, tired beyond any memory of weariness, I found some joy, some equanimity. I was at peace. I was able to fully let go of expectations, not attached to a hope that Grayson would actually fall asleep (he didn’t), and I thought about the teaching of a favorite Buddhist author, Pema Chodron, “There is no guarantee of fruition.” Ideally, I don’t practice meditation or do anything to accomplish a particular outcome. The practice is to just do what’s in front of me: take the right action, put in the right effort, do the compassionate thing. And I marveled that despite my exhaustion, my heart was filled with compassion all night. Compassion and peace. I believe lessons like these are hard to come by without some adversity in life. On this sleepless night, I had received yet another gift from parenting my amazing son Grayson.
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H is for Houdini, I bet I can escape
A-ny sort of safety thing, that you try and make.
P is for the purines, that make it all so bad
P-retending that I'm happy, when in fact I'm sad.
Y is for the yellow, the colour of my wee
C-rystals sparkle uric acid, which has built up in me.
H is how I hurt myself, stop me don't ask how
R is for the restraints, at last, I am safe now.
I listen to what's happening, I hope I don't do wrong
S-omeone comes right next to me and starts to sing a song.
T that makes me thankful, I'm starting to feel calm
M my mind is feeling better, you stroke me on my palm.
A-nd now I feel so happy, that you understand me
S-o piss off to Lesch Nyhan, happy Christmas y'all from me
F was a real naughty word, my behavior it was poo
R-eact was the one thing, that you didn't have to do.
I-n the end it all worked out, I'm going to do right
E-ven if it's just a smile, I give to you at night
N-ow tomorrow is another day, many hours in length
D-on't worry, we will crack it - you've got LN caring strength.
-John Elliott
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Love Never Sinks asked Seana Halfpenny of Portadown, County Armagh, Northern Ireland to reflect on the experience of being a sibling to a person with LNS. She graciously opened her heart to us and shared a beautiful story of a beautiful man. Kieran passed away at 42 years old on October 16, 2023. We are sincerely grateful to Seana for sharing her memories. Our deepest condolences go out to her and her family.
Kieran was our perfect imperfection.
He was the comedy in our life.
He shaped us into the people we are.
He taught us more than he will ever know.
We needed him more than he ever thought he needed us.
He was more than LNS, he had qualities as a man that people failed to appreciate or fathom because LNS robbed him of that.
He was a gentle man.
He was a son, he was a brother that I would take again in every life, as he was.
He was a proud uncle.
His nieces and nephews had fantastic relationships with him.
Without him we would not have unconditional positive regard for other people.
He was a loyal friend.
He maintained valued friendships throughout his life, and those friends were as loyal back until the day he died.
He was a family man.
He was grateful for everything we did for him although at times LNS robbed him of his authenticity.
We had Kieran and “Kieran Kieran,” what he called himself when Lesch Nyhan controlled his behavior.
I loved them both.
Kieran was the youngest of four and the only boy. We were all very close in age. When he was born, I was two, Nuala was three and TraceyAnn was five. We grew up in a big extended family. His birth was straightforward, and he showed no signs of anything being wrong in the infant stages. He was a chubby, happy wee blond-haired boy. I always have a memory of playing on the floor with him and he would cry when we got up to leave. We absolutely idolized him.
Sometime after he was two years old, he was diagnosed with cerebral palsy due to his weak muscle tone, muscle spasms and failure to meet his mobility milestones. In our family there was never any big drama about that. No one treated him any differently, he was just thrust into the middle of everything with everyone. He was carried everywhere and slept in bed between my mummy and daddy.
When he was a little over three years old, we went on a holiday and Kieran’s behavior started to change. He became extremely frustrated, difficult and fussy. What I remember most was the lip biting. I was too young to put into words how it felt, but as an adult I can only describe it as traumatizing to watch. The major trauma we had was for him. He bit his mouth so hard and continued to bite until there was an open bleeding wound. The shock on his face when it happened was so confusing to all of us. Things got a lot more distressing and frustrating after that holiday.
But it isn’t simple. Having a brother with LNS made life very challenging. I honestly have to say, as siblings most of the choices we made put Kieran’s needs in the forefront. He was demanding and challenging. He was exhausting physically and mentally. There were days when I personally could have just crawled into a ball. With this came a lot of guilt, and I have to be honest, at times, resentment. I feel bad saying that, but I can’t lie to myself and say it was all sunshine and rainbows. But that wasn’t him. That was LNS. He was the quickest and funniest person in the room. He was so well mannered and grateful. He was a doting uncle and mostly he was a caring, loyal friend. He was a deep thinker and so intelligent. He had a different relationship with each of us sisters, like most siblings.
Mummy cared for Kieran his whole life except the last four weeks. She died on Monday, September 18th 2023 and Kieran died exactly four weeks later. His bond with us was strong but Mummy was his backbone. I moved into Mummy’s house permanently on the day she died. I promised her I would look after Kieran and I always made sure he knew he would never have to leave home. I was really moving into his home.
My advice to parents regarding siblings:
Consciously have conversations about how they feel regarding care, etc. If everyone knows what is expected or not expected from them and everyone is open and honest about what they want for the future, things can be more clear. For instance, if a sibling does not want to take part in the care, be clear, it’s ok to just be a sister or a brother but encourage stability and consistency. I would also encourage care to be provided outside the family.
My advice to other siblings:
Become knowledgeable. Understanding LNS was the saving grace to my relationship with Kieran. I always wish I’d had the knowledge I have now for longer. For the years I did understand LNS, I am grateful to Love Never Sinks. Kieran and I were both grateful to Love Never Sinks. I think his life may have been more stable and peaceful if he were born today, knowing what we do now about the management of LNS.
Also, go to bed every night with a clean slate, no matter how difficult the day was. Start the next day as new, letting things go. Count yourself lucky to have been dealt this hand in life. It is a blessing, not a sentence. I wish I was starting the journey again as a sister with my legend of a brother who had LNS.
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Chilli Turner is a 22-year-old man with Lesch Nyhan who lives near Edinburgh, Scotland with his mum Ilona and his new puppy. His dad James lives close by and always joins Chilli and Ilona when they travel. Travel is at the top of Chilli’s favorite things to do, and he and his family have had many amazing holidays. Ilona was kind enough to introduce us to Chilli and share some travel tips with Love Never Sinks. The following are her answers to some questions about how to travel with our loved ones with Lesch Nyhan.
What types of travel does your family enjoy? Where do you like to go?
Ilona: Chilli has very itchy feet and just loves to travel! He is always asking me to look up holiday ideas.
He loves planes so most of our trips involve a plane journey although sometimes we have travelled by train.
We travel to London at least once a year. We went to Spain when he was little, but now he prefers to travel to the USA on holiday. We have been to New York, New Orleans, Miami and Chicago to see the Bulls as Chilli also loves basketball. So far, New York has been our favorite. There was just so much to see and do. We used a water taxi to travel the full length of the city. It was so much fun being on the water! What are your tips for airline travel?
How do you handle seating?
Ilona: We have assistance to the plane door and we are always first on and last off! One of us carries Chilli’s plane chair onto the plane and sets it up and then we carry Chilli onto the plane. I am more than able to lift him, he’s only 5 foot and 97 pounds. The wheelchair goes in the hold and comes back to the plane door when you arrive at your destination. We try and get seats as close to the front as possible and we ask for a bulkhead or other seat with lots of room to make it easier to get him in and deal with his needs throughout the journey.
Chilli’s plane chair is a floor chair that I bought on Amazon “bonVIVO Floor Chair – Easy II Folding Meditation Chair for Adults” . We strap him to it using Velcro straps and scarfs. The plane seatbelt holds him and the chair in place and stops him sliding down while the seat gives him a bit of stability to sit up. I use one strap around his chest, one around his pelvis and one around his thighs. I strap his hands to the seat belt to stop him flailing around everywhere. A good neck pillow helps too. Also, we always sit Chilli next to the window! It works very well for us, although Chilli doesn’t have very bad dystonia.
How do you handle toileting on planes?
Ilona: We tend to double up on diapers and carry a small no fragranced deodorant just in case he has a bowel movement. The no fragranced ones don’t draw loads of attention but are enough to mask the smell if necessary. It’s just impossible to change him on a plane.
How do you navigate cities and sightseeing?
Ilona: Generally, we choose a destination based on how easy it is to get around. We look for places that are walkable or have good public transportation. I am sad to say that none of the cities in the USA that we have been to had changing facilities. It’s one of the things that the USA is behind in, but I think there is starting to be some movement towards facilities being more standard which will be good!
Once we leave the hotel Chilli is in that diaper until we get back. (Note: Some other families have had luck carrying supplies in a backpack and asking museum or other facility staff for “first aid stations.” After explaining what their needs are, they can usually find an out-of- the-way place for changes. Calling ahead about this also helps).
Hotel-wise we do not ask for any specific or special rooms, but we do ask for a bigger room in order to accommodate Chilli’s chair and extra luggage. We don’t travel light with Chilli! My problem with wheelchair accessible rooms in hotels is they are usually designed for 2 people only, which doesn’t work for families. Chilli loves to go to basketball games when we are in a city. A little tip for anyone looking to go is buy a cheap ticket on a resale site like SeatGeek. When you arrive at the stadium, go to customer service and they will change the seats for wheelchair accessible seats. We’ve had some really good seats doing this!
What are the best and worst parts of traveling for your family?
Ilona: Nothing is perfect when it comes to our kids but with a little bit of brainstorming and imagination, we can come up with solutions that are ‘enough’ to make the impossible possible! Traveling hasn’t always gone smoothly! We took a day trip to Germany and Chilli’s chair got left behind on the way home! Total nightmare! But it turned out to be the best memory because we got to hang out with the crew for 2 hours while we came to a decision on what to do! His chair was returned to him bright and early the next day. It’s been extremely frustrating at times but the good points by far outweigh the bad!
It’s not easy by any means but it’s worth it! Traveling with Chilli has its disadvantages such as things being more expensive, or transport problems, but it’s also a joy. He just loves it so much and literally comes alive at every turn. He wants to cram in as much as possible but is also so happy to relax by the pool and “push” his mum in at every opportunity lol! Chilli wants to travel the world and see it all!
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If I could get back the time I would do this years ago! Now we are in the present, and thank God Aldo is better... In late February 2023, Aldo started hurting his tongue. I thought it was just another minor injury that I could manage, but unfortunately, that wasn't the case, and the wound on his tongue kept getting worse. At the hospital in our city, they unfortunately didn't know what to do for Aldo, which was a complete tooth extraction. If it was difficult for them as doctors, trained professionals, it was even more difficult for me as his mother. We were going through a very difficult time because Aldo wasn't sleeping, eating, or taking his bottle... By march, he was hospitalized, but the doctors hadn't offered a concrete solution... But Gaby Ponce was already moving heaven and earth to help Aldo and stop the wound on his tongue from getting bigger. It was a very complicated situation because even an emergency surgery, especially a private one, isn't cheap, but thanks to the Love Never Sinks Foundation, who didn't hesitate to help us get Aldo transferred to Mexico City for the tooth extraction…I requested a voluntary discharge from the hospital where Aldo was hospitalized in Veracruz, Mexico, and that same day we traveled to Mexico City. It was very difficult because we went by bus, and Aldo kept hurting himself. At times we could control him, but it was inevitable that he would hurt himself more and more.
The day we arrived in Mexico City, by 3 am Aldo was already going into surgery for his tooth extraction. Thank God, Aldo came out of surgery very calm; all he wanted was to be hungry, and it was a huge weight off his shoulders to realize he no longer had any teeth. From then on, Aldo has changed in every way: he's calmer, he eats very well, he's happier!
And I want to thank Love Never Sinks for being a part of Aldo's happiness!
Thanks to Gaby Ponce for always looking out for Aldo, and to Luis for also being a part of Aldo's great happiness!
-Teresa Zapata
Every story, whether joyful or challenging, adds strength and understanding to our community. Together, these stories remind us that no family faces Lesch-Nyhan alone — and by sharing, you help us build a future book of hope and connection that will honor these voices for years to come. 💙
Our hope is that one day, these stories can be collected into a book of experiences to share with the broader community, preserving the voices, lessons, and love of families living with Lesch-Nyhan syndrome. By sharing your story, you help others feel less alone and contribute to a lasting legacy of hope and connection.
