Woman whose family has rare, deadly condition looks to get the word out
Bonnie Churchill wears high heels a lot — not just for fashion purposes, but for health reasons.
The 45-year-old needs to hear the clicking sound they make or else she’ll likely end up falling.
© — Photo by Joe Gibbons/The Telegram
Bonnie Churchill has been diagnosed with adrenomyeloneuropathy, a rare genetic disorder. She believes others in this province may have the disease, and she wants to raise awareness about it.
“I listen to my feet,” she said. “It’s the only way I know they’re making contact with the floor.”
Churchill has no sensation from her knees down. It’s one of the results of a little-known and potentially deadly disease.
About two years ago, she was diagnosed with adrenomyeloneuropathy (AMN), a rare genetic disorder in which people suffer neuropathic decline.
A variant of AMN, adrenoleukodystrophy (ALD), primarily affects adult males and occurs in about one in every 17,000 births. The disease was made famous by the movie “Lorenzo’s Oil.” The 1992 Academy Award-nominated film offered a glimpse inside the world of a family struggling to cope with an ALD-stricken young son.
The adult presentation includes spinal cord symptoms, as well as difficulty walking, muscle spasms, numbness or tingling in the feet and legs, and possible bladder or bowel involvement.
It can also result in the deterioration of brain function and, in many cases, death.
Female carriers of ALD can experience symptoms similar to men. Symptoms vary in women, but can affect physical and brain function.
For Churchill, ALM is affecting function in her legs and arms.
“Every morning when I wake up, my legs can’t move,” she said, fighting back tears. “I take one leg, swing it to the side of the bed, take the other and do the same.
“I sit up first and try and do some exercises in bed. When I put them to the floor, I have no feeling. So, I have to stand up and wait.”
It’s hard for her to explain how emotionally agonizing that is for her, but her tears speak volumes.
Churchill’s hands also have no feeling.
She’s recovering from a burn she suffered weeks ago while cooking. She didn’t realize the burn was there until hours later when she saw the bulging red mark on her hand.
“If I cut myself, I don’t know it happened until I see the blood pouring out,” she said.
Churchill has no sensation in her limbs, but she does feel pain.
“It’s difficult for anybody else to understand. I have feeling in my hands. I just have no sensation because the nerves are gone,” she said.
“I can move my hands and arms, but if I hold a cup of tea, I don’t know if it’s really hot until I put it to my mouth.”
But compared to some other members of her family, her experience with the disease has been minor.
Churchill’s brother, Garry, died from the disease on Jan. 10, 2011, at the age of 52.
Her other brother, Rick, in his late 40s, is suffering severe mobility issues and limited physical functions.
Rick was the first to show symptoms, about 10 years ago.
At first, he was having difficulty walking, with lazy extremities and knee knocking. At the time, doctors had no idea how serious it was.
“He looked like someone with multiple sclerosis walking, which is why the disease is often misdiagnosed as MS,” Churchill said.
“Nobody knew what it was and nobody could come up with a diagnosis because when they do basic tests, nothing shows.”
Then, a few years later, Garry began showing the same symptoms.
His decline was rapid.
In the span of two years, Garry went from beng a strong, healthy man to being in a vegetative state, in which he was bed-ridden with no cognitive ability.
“He just faded away so quickly,” Churchill said. “The last six months were pure hell. He had no function. It was just a matter of when was he going to die.”
Shortly before Garry’s death, Churchill began presenting signs — dragging of the feet and frequently falling.
“I knew in the back of my mind I had it because I was showing symptoms, but I was in major denial,” she said. “When I was going through a really hectic time at work, working 16- and 18-hour days (as administrator of Elizabeth Towers), I had myself convinced it was because I’m tired.”
As doctors here continued to investigate her brothers’ symptoms, the Johns Hopkins Hospital in Baltimore became involved. It was there that a diagnosis was finally made through genetic testing.
“We finally knew what we were dealing with,” Churchill said.
It was a relief for the family, but it was also frightening, as they wondered what the future held for them.
“With this disease, there are so many different forms of it, and you don’t know which form you have until you present,” Churchill said. “Even then, you don’t know how far that’s going to go.”
At that point, hers was the only family diagnosed with the disease in the Atlantic provinces.
Churchill said doctors at Johns Hopkins were the only ones who could provide any information to them about the disease.
It involved a lesson in science, since it is linked to a mutated X chromosome.
Each person usually has one pair of sex chromosomes in each cell. Females have two X chromosomes. Males have one X and one Y chromosome.
The gene can be passed on to a child from either a carrier mother or a disease-inflicted father.
The father passes the defective gene on his X chromosome to all his daughters, but a son who does not inherit the X chromosome will not have the ALD gene. If a carrier mother passes the gene, there is a 50 per cent chance with each pregnancy that the child, boy or girl, will have the ALD gene.
“So, Mom (Shirley) had to have been the carrier,” said Churchill, whose mother passed away a few years ago.
After the diagnosis, doctors at the Health Sciences Centre recommended all the family undergo genetic testing for the disease.
Churchill was first tested in August 2011.
It came back positive.
It was a moment of her life she will never forget.
“Initially, it was pretty surreal,” she said, her eyes filling with tears. “I knew in my heart it would be positive, but you kind of had this hope.”
But her concern was with her daughter, Nerissa.
“When you find out for real, your instant reaction is your child. Does your child have it? How is it going to affect her children? Her children’s children?” she said, wiping tears from her eyes.
“It wasn’t about me in that moment. It was about her.”
Fortunately, Nerissa tested negative.
Churchill also had a son, Bradley, who had suffered a brain injury in a vehicle accident. The injury eventually led to his death in 2002. It’s unknown whether or not he had the disease.
Stemming the tide
While there’s no cure, the disease in families can be stopped in its tracks.
Churchill — normally a private person — made the decision to go public with the disease for that very reason.
Recently, she said, it’s come to light that another family has the disease and has lost family members. She said it’s possible there are others who may have it and not even know it.
“The goal in going public is that it can be stopped from going forward in families. It’s about awareness,” she said.
“I don’t think there’s enough education about the disease. If you have it, there are alternatives. If you’re planning to have children, you can have unaffected embryos implanted. They can pre-test, so the disease doesn’t have to go forward with families.”
But because so few people in the world are diagnosed with the disease, Churchill said the chances of getting funding to find a cure is slim.
It’s up to those who do have it to get the word out.
Churchill said if anyone presents symptoms, they should ask their family doctor for an adrenal insufficiency test.
“If it’s positive, you need to contact the genetic foundation. They will contact doctors in Baltimore.
Those doctors — Dr. Gerald Raymond, in particular — have been a godsend to Churchill.
Raymond, a geneticist with 25 years of experience in neurology, is leading the research on the disease. He recently moved to the University of Minnesota, but still stays in contact with Churchill.
“He’s gotten me to where I am today,” Churchill said, again getting emotional. “He has given me wonderful guidance and great care and programs to follow.”
It’s the only place she can turn to, she said, since doctors here know little about the disease.
“We have doctors here who are phenomenal for any kind of neurological disorder. I praise them to the highest,” she said. “But this disease never presented in this province before, so they have no experience with it. The only information they have is what my family has given them.”
Churchill has been lucky to have the resources to have travelled several times to Baltimore for treatment.
Now she and some other family members want to offer the same opportunities.
They are looking to set up a foundation to offer financial support to those with the disease who need it.
The help Churchill has gotten at Johns Hopkins Hospital has been priceless.
“People who have this disease need to know there are people who care,” Churchill said. “They need to have that guidance.”
Doctors there have provided Churchill with a physical program for her and continue to monitor her.
“For people here who can’t get to Baltimore, that’s sad,” she said. “because their quality of life will suffer.”
She and her family are also looking to hold a walk to raise awareness about the disease. They hope to hold it around the third anniversary of Garry’s death in January.
In trying to help others, Churchill will continue to try to help herself by following her strength-conditioning program.
Other than that, she will continue to hope, as she has no idea how far the condition will progress with her.
“That’s the hardest part — not knowing. It’s the fear of the unknown. You wake up every day, not able to move your legs, wondering if it will always be like this or if it will get worse,” she said, her voice quivering.
“You don’t know what each day brings. … It just teaches you to live each day better because you don’t know what tomorrow will bring.
“It sounds cliché, but it’s so true.”
Anyone with questions about the disease or the family’s experience can contact Churchill at firstname.lastname@example.org.