John Luke’s PKAN Story

Our family’s PKAN journey began with our son, John Luke. He had just turned 5 years old and one day, out of the blue, we noticed he wasn’t using his right arm at all. It was like he had a stroke and was no longer able to use it. We immediately called his neurologist and got an MRI scheduled. 

Prior to this, John Luke had always just  been a clumsy kid with poor balance. He was a late walker and struggled with gross and fine motor skills. Accidents were common, ER trips requiring glue and stitches were nothing out of ordinary. We did all the testing, all the therapies, but everything always checked out. Ataxia was the only thing doctors could tell us. Deep down, we knew something wasn’t right, but John Luke was such a smart kid and worked hard to improve his motor skills. He was always so resilient. 

The days, weeks, and months that would follow still haunt me. Our sweet boy was on a downhill decline at a record pace. His balance was way off, he was really high on his tippy toes and falling constantly. Eventually, he started pulling his left arm back and then both arms behind his back. He couldn’t use a pencil anymore, he struggled to even play with his tractors and farm animals. Dystonia was taking over his body.

The MRI showed the hallmark “eye of a tiger” sign and so genetic testing was ordered to confirm diagnosis. All of the testing and then waiting, was absolute torture. We finally received the news, John Luke had pantothenate kinase-associated neuro degeneration with brain iron accumulation. John Luke’s PKAN diagnosis came days before I would give birth to his little sister, Gracie James. At that appointment, we learned it is an autosomal recessive trait and the baby would have a 25% chance of having it as well. 

Overwhelmed, heart broken, and confused, we left that appointment and immediately started reaching out to the only PKAN specialists in the country. We were fortunate to get an appointment quickly and traveled across the country (Portland, Oregon) to see them in person. There, we learned of a clinical trial that was just about to begin and we were filled with so much hope. 

We came home and tried to live as normal as possible, cherishing every good day. John Luke started Kindergarten part-time with an aid. We were constantly readjusting to accommodate his ever changing needs. By his sixth birthday, he was unable to walk. He was in a wheelchair and had special seats, but none were comfortable for him. Uncontrollable twisting movements made it difficult for him to even sit in the floor or on the couch. John Luke also became very spastic and his entire body would stiffen like a board. We would literally take turns holding and laying with him around the clock. If he was in our arms, in our specific position with his knees bent, we could somewhat break the dystonia. As one can imagine, meal time became quite challenging. Before long, the dystonia started affecting his throat muscles and his little voice was changing and strained. Eventually, it was time for a Gtube. Our strong boy had lost all independence, even being forced back into diapers. 

We went into the hospital with our John Luke and came out with different child. I can’t put into words how horrific that experience was. John Luke had never been in the hospital and all of the added stimuli made him very anxious, which in turn sent his dystonia into overdrive. He was arching so badly his toes were nearly touching the back of his head in a backwards C position. Doctors were not familiar with PKAN and we didn’t know enough to advocate for him. We were fortunate to have a neurologist come along that had seen PKAN during his residency. He quickly put a plan in place and he has been our neurologist since that day. 

The months that would follow were heartbreaking. John Luke was on so much medicine to treat the dystonia, but the medicines caused constipation which led to more dystonia.  It was a vicious cycle. Poor baby didn’t sleep, nobody slept. He was terrified of his feeding pump and would vomit if I tried to feed him when he was awake. He vomited so much. Around 5 months after gtube, John Luke would suffer an ileus. His gut had stopped moving. We had to get off some of the meds, but he had to have them to keep dystonia from literally breaking bones from  the uncontrollable twisting and arching. A baclofen pump was our only option. 

The 35 day hospital stay for the baclofen pump is its own story. From a 16 hour dystonia storm, to being intubated and sedated, propofol infusion syndrome, pump placement, weaning sedation meds, extubation and reintubation, the talk of a trach, withdrawals, etc. It was a whirlwind, but we brought home a new kid once again. The Baclofen pump allowed John Luke’s body to be calm. We were amazed. The kid just smiled constantly. He could watch TV again without getting too worked up. He loved Andy Griffith. While John Luke was unable to speak, he never lost his contagious laugh and bright smile.  He was able to sit in his special seats once again. It was a dream come true, but it wouldn’t last long.

After a few months, the dystonia would return, but this time with breathing issues. John Luke had a terrible time with secretions and we were constantly having to suction him. He hated the suction, he hated the oxygen, hated breathing treatments, the vest, and cough assist. We were desperately trying to stay on top of his airway issues but there was no options this time. We went back to hospital only be sent home with Hosparus care. John Luke screamed every waking minute of his last week on this earth. We believed he figured out that through yelling he could exhale. One of the unique things with PKAN is they never lose their cognitive abilities. John Luke was the strongest, most amazing kid I have ever known. I have focused on his PKAN journey, but I could write even more about his sweet personality and kind heart. He was simply the best and we miss him every day. He passed 2.5 years ago at the age of 7 years, 3 months.

We are blessed to have so much John Luke in his little sister, Gracie. She is a spiting image of him and unfortunately, she too has PKAN. Gracie is now 4 years old. Like John Luke, she has always struggled with anxiety, insomnia, vision issues, and of course, poor balance with extreme toe walking. However, recently we have noticed dystonia starting, stiffening of her right arm and more frequent falls and accidents. She just received her first Botox treatment and we believe it has helped. She will be fitted for more braces soon. 

We thought the unknown was scary with John Luke, but being able to recognize the signs and symptoms and knowing the timeline is more than I can bear some days. We plan to learn from our experience and be more proactive instead of reactive with her. Once again, we are hanging on to hope with the advancement of gene therapy for PKAN patients.