You have permission to edit this article.

Clarksville mom wages war against rare genetic disorder, raises awareness for upcoming clinical trial

  • 0

CLARKSVILLE, Iowa (KWWL) -- Michelle Lucas lost both of her sons, Keith and Daniel, to a rare disease called Lesch-Nyhan Syndrome, known for causing uncontrollable self-harm in those it affects.

"We had to remove all their teeth so they wouldn't bite their lips or fingers off. They would gouge out their eyes, rub their skin raw," Lucas said.

RELATED:An Error in the Code | The New Yorker

Both boys were wheelchair-bound throughout their lives while also being placed in a protective device that would prevent some of the self-inflicted injuries. The boys were full of personality, Lucas said, acting just like brothers do.

Lucas describes fighting for treatment and a cure as her passion as well as Keith's dying wish.

"One of his dying wishes was he told me, 'Mom, I may lose this battle, but please win this war for me. Don't give up.' So I'm here," Lucas said.

She and others have launched a GoFundMe account for the nonprofit she started called "Love Never Sinks" which supports those with LNS and their families. Money goes towards research as the Orphan Disease Center continues its work with gene therapy at the University of Pennsylvania. Lucas says they expect clinical trials to begin in the near future.

Currently our community has been given an opportunity by The Orphan Disease Center at Penn Medicine to participate in the first ever gene therapy human trials for LND. We are very excited by this opportunity, however due to the rareness and uniqueness of this disease funding is difficult at best. To start clinical trials, we are looking at upwards of 20 million dollars. A huge number for any disease, yet especially for one that only affects possibly 300 worldwide.

Excerpt from Love Never Sinks' fundraising letter

"This is the first thing that's been positive for Lesch-Nyhan since 19-65," Lucas said.

Her goal is to offer other children a better quality of life than what her sons had. Lucas says the cost of running the trial will be expensive, possibly more than $2 million.

"There are going to be grants. There's going to be stuff for that but a lot of this is to ensure that every family, regardless of financial status can get to these clinical trials and have the same opportunity that other families have," Lucas said.

You can visit the nonprofit's website here and the ongoing GoFundMe for research here.

Lucas complied some of the details of her story into one piece that she shares with those interested in learning more about the disease:

"Wow life never ceases to amaze me. I have walked the walk that many fear. I have felt alone. I felt betrayed. I felt that there was no one else who could understand my pain. Due to these feelings, I decided I needed to make sure that others never had to feel this way, never had to walk alone.

Life is amazing and here is my story.

On February 15th, 1995 my son who was almost three at the time was diagnosed with a rare genetic disease called Lesch-Nyhan. If you any of you remember living back in these “ole days” the technology of the internet wasn't as readily available as it is now. I stared at the doctor and asked, “So what exactly can I expect?” She said she honestly did not know. I was told he was mentally retarded (a word that is now more known to us as an intellectual disability), he would never walk, he would self mutilate, and I would be lucky if he lived to be five. My hopes were shattered. I walked out of Cleveland Clinic that day devastated.

The years leading up to his diagnosis were very mentally challenging for me. When Keith was 6 months old, he just wasn't developing like other babies his age. He was not trying to sit up, his hands turned in, and he would arch so bad I thought he was going to break his neck. We started seeing specialist after specialist. Test after test and still no answers. Keith had no brain damage. Keith muscle and never biopsies showed nothing. They even did an electrical test that shocked ever nerve in his body. We knew he had some mild demyelination (he was missing some of the myelin sheath that coats the nerves that helps send the signals from your brain to other parts of your body to tell them what to do) this in return could be the cause of his shaking.

When Keith was a year old, he was diagnosed with untypical Cerebral Palsy. Pretty much all this meant was that he did not have brain damage and they (the doctors) did not know what was wrong. Frustrating wasn’t the word. Every-time we went to the doctors I prayed for answers…but none came. Blood work showed everything was fine except for a little bit of a high lactic acid level. His diapers would fill with a substance that looked like “orange sand”. Yet none of this told the doctors anything.

This poor kid was tortured for 2.5 years of his life before we heard the words Lesch-Nyhan but by then he had already begun to bite his fingers and show other signs of self-injury. We were trying to protect our child from himself. Really?? Who as a parent must do that? He would do a commando type crawl but only to butt his head along the walls while doing so. He would roll over and whip his head down on the floor so hard it made me cringe. The neighbors started thinking we were abusing him as he would scream all the time in fear of his own body causing itself trauma.

Really was this my baby? The poor me syndrome kicked in. What was going on? Why was this happening to my baby? Why couldn’t I have that normal healthy child like all my friends had? I just wanted to be a mom with a little boy who could do all the things other kids could do. Apparently, this was too much to ask.

I mourned my loss…I had a hard time accepting what was in front of me… What did I do wrong? Why? Why? Why? Of course, there were no answers and no one to blame but God himself…. I needed a scape goat…I was scared young and again alone in this unknown world of “Lesch-Nyhan”

Shortly after Keith’s diagnosis I got my first rude awakening. I knew the doctors said self-mutilation, but I truly had no clue. We had been “protecting” Keith from biting his arms and hands with arm splints and winter gloves. This was a normal in our new world. He even wore them to bed at night and you dare not take them off him or his hands became magnets to his mouth. Well, this morning of February 22nd a week to the day after his diagnosis Keith woke up with a fever of 102.5. He showed no signs of illness other than a fever. As any mom would do, I made him a doctor’s appointment to be seen.

As I was preparing to take Keith to do the doctor and I was changing his clothes (his gloves and arm splints also) I took off one of his gloves and just gasped. There before my very own eyes was what was left of a thumb. It was mutilated. I could see the bone. His skin was black, and it was bleeding. I was baffled. How did he do this? My first reaction shock….my child did this to himself really? How? Why? I know they said “self-mutilation” but seriously who does these kinds of things to their own body?

We took him to the hospital where he was admitted for a week on IV antibiotics and again more testing to make sure the infection had not reached the bone. Luckily it hadn’t. My first experience with how devastating this disease could be. I still truly had no clue…

On March 14th, 1995 I found out I was pregnant with my second child. I knew there was a possibility of my other children having this disease also that is why I went in to get my tubes tied. I was horrified when they told me I was pregnant. Wow what do I do? Do I have another child? Do I get an abortion? Where do I go from here? After much debate we agreed we would take our chances and have another child. After all there was only a 25 percent chance of having another kid with Lesch-Nyhan and if I had a girl, she would be fine, as the disease is carried on the X Chromosome and “normally only affects males” Nine months later a baby boy was born we named him “Daniel”.

Three months old and cute as a button. Daniel was a highlight of our lives. Then one day I changed his diaper only to find none other than “orange sand” my hopes once again shattered. Really? two? What had I did so wrong that I was being punished for? Why me? Why my babies? The feelings started all over again.

Daniel was diagnosed on May 21st, 1996 my 24th birthday…Happy Birthday to me?

There seemed to be no hope…I was lost in my own world of self-pity…Then my own world of pity for my kids…Then finally after years of this I woke up…to what was the reality of my life. Was it really that simple? NO but it did eventually happen…and oh how the world changed.

My kids were not a burden, they were gifts from God. God did not do this to them or to me, it happened. I was fortunate to be the mother of two beautiful boys who touched many people’s lives in the years to come. Had I only saw it sooner? Well, it is what it is.

My son lived past five…he lived past six…heck he made it all the way until he was 20.

During this time their life was not easy, the disease was never kind to them, although we always did what we could to protect them they found ways to self-injure.

There are so many things I did not know, the human brain truly is a mystery, who would know better than I. Having lived so many years watching my kids not only self-mutilate but push others away as a punishment to themselves (this is called indirect self-injury). They would cuss, spit, bang their heads, gouge their eyes (to

name a few), screaming from the pain it caused them and hurt it caused others, unable to stop until protected.

Can you imagine? Most of us what to protect our children from the outside world. I had to protect mine from themselves and everything that surrounded them.

Through all this both of my children remained happy. The surgeries they endured, the sickness, and the infections they caused themselves. All this yet they loved life and loved people. The neat thing was people loved them as equally. It was a hard thing for anyone to grasp.

Keith and Daniel were very well liked and loved in a small community of Clarksville, IA where they not only attended school but participated in sports…as their classmates would have it no other way.

Then one day my worst fear became a reality. On November 13th, 2010 I woke up to find my youngest son had passed in the night. He had been recently having some breathing difficulties and was just getting over pneumonia. He went to the bed the night before looking great. AS I laid with him bed that night singing to him “Away in the manager”, he smiled and said good night. I did not know that would be my last time looking into his beautiful eyes, but it was.

Always take time to smell the roses because everything good in this world has an end…

Keith did not do well with Daniel’s death; he was bored with life. His behaviors skyrocketed. Story after story of how we didn’t love him anymore. He would no longer sleep (not that he ever did much anyways) and his self-inflicted vomiting lead to a bleeding esophagus. All the while screaming at me that I killed his brother because I didn’t hear him (indirect self-injury).

Eventually we had no choice, we placed him into a Transitional Care Facility. He was miserable, as were we.

It wasn’t long before Keith learned how to hold his breath until he was in a coma (unbelievable yes, but this is the same individual who could intentionally get his body temperature elevated to 107)

After many battles and many conversations with Keith and his doctors, ultimately Keith made the decision of not wanting any life support. Could of this been another form of self-punishment? Yes, it could of, this poor child. We were all exhausted.

Keith also made the decision that all his organs go to Iowa Donor Network, and his brain to research so another child had a chance at winning this war. Keith’s last words to me were “Mom please don’t give up, please keep fighting this battle. Mom don’t just fight the battle-win the war for me, okay?”

Keith lost his battle to Lesch-Nyhan Disease on April 21, 2021, after laying in a self-induced coma for over twenty-two hours.

This journey I took is much more than I ever wanted in life, but I wouldn’t give it up for the world. It has made me a better person. I have a better understanding for others. No matter how big or how small, when an illness affects our kids, it is always horrific. If we can learn to look beyond all the limitations our children may have, we may just find something in ourselves we never knew we had. We may think we are the teachers, trust me when I say, 'they truly are.'"

Michelle Lucas-CEO and Founder of Love Never Sinks