Genetic disorder makes limbs go numb

Rosie
Rosie Gillingham
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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.

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 churchill.bonnie@gmail.com.

 

rgillingham@thetelegram.com

Twitter: @TelyCourt

Organizations: Johns Hopkins Hospital, Health Sciences Centre, University of Minnesota

Geographic location: Baltimore, January.In

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Comments

Comments

Recent comments

  • Bonnie
    January 09, 2014 - 08:02

    Thanks for pointing out your public concerns Joy. At no point in this article did it address if I drive a vehicle, if a vehicle has been accommated to meet required needs etc. So this individually is obviously someone who thinks they no me personally and has decided to use this venue as a place of personal attack , missing the point of the article. As there are many issue I deal with personally due to this that were not portrayed, as that was not the purpose of the article. Joy i would be more than open to privately discuss the process my medical team, Motor registration and I follow annually to ensure public safety along with my safety.

  • joy
    January 09, 2014 - 05:32

    After reading this article a few things come to mind. Bonnie, you definitely have a few medical issues all which i am sure will be addressed. your story seems very tragic and great that you want to help people - i hope you also know maybe you should not be driving a car - no feeling in hands and feet..seriously you should not be behind the wheel of any car.

  • Donna (Churchill) Parrell
    January 07, 2014 - 09:55

    It has taken me several days to get my head around this article. It appears the journalist of this article only printed information she was given from the source, she should have taken the time to do her own research. Three years ago this coming Friday I lost my brother Garry to this disease. Adrenoleukodystrophy is a horrific disease, and to watch Garry go through the stages was hard on everyone. Your hands are tied as there was nothing we could do to help him only to be a support to his family. There is no cure nor was there any treatment that could help. I feel the need to clarify that at no time was Garry in a "vegetated state" as stated in this article. Vegetative State Definition A coma-like state characterized by open eyes and the appearance of wakefulness is defined as vegetative. Description The vegetative state is a chronic or long-term condition. This condition differs from a persistent vegetative state (PVS, a state of coma that lacks both awareness and wakefulness) since patients have awakened from coma, but still have not regained awareness. In the vegetative state patients can open their eyelids occasionally and demonstrate sleep-wake cycles. They also completely lack cognitive function. The vegetative state is also called coma vigil. He was bedridden the last going off, but even then he was fully aware of what was going on around him but could not communicate to us through speech. Garry was bedridden the last going off, but even then he was fully aware of what was going on around him but could not communicate to us through speech. The day before he passed away when I spent some alone time with him, he was able to squeeze my hand to let me know he knew I was there when I asked him to. I am not in a position to comment on Bonnie's medical state but can only relay the information that has been presented to me. At no time have I been led to believe that I being a carried of the gene would see my condition take on the same form as it did my brother. I have been told that through following carriers with the gene they have seen some show signs of Arthritis but none with sever motor skills deterioration. Females have 2 X chromosomes one if infected carries the gene the other is good which is why woman do not take on the same characteristics as males. For anyone out there who may be reading this article and you have any concerns that this disease my be in your family I suggest that you contact your physician, or the Genetic Testing Department at the Health Science Center to further educate yourself and or have the testing done.

  • JOY
    January 06, 2014 - 06:02

    BRAVO ! BRAVO! SHE DESERVES AN ACADEMY AWARD

  • Bonnie
    January 03, 2014 - 20:06

    I don't usually fall prey to commentary of others, but based on the accusations of "C" I find it necessary to supply a supporting link to a fact sheet on this decease compiled by the research team . The reporter on this story was very diligent in her investigation of this story. She initially read my diagnose report from John Hopkins, She read through all my test results, MRI results etc and asked the required informative questions. Two days prior to the story going to print I was supplied an updated Fact sheet on the decease from Dr. Raymond which was supplied to the reporter. Whether a Court reporter. or sports reporter the reporter has to investigate the details. Which is exactly what was done. My concern with statement like this made by "C"is that an individual will miss a diagnoses. Kennedy Krieger Institute and The John Hopkins hospital both in the same location in Baltimore working together that I have been fortunate to be followed through. This is where the medical team lead by Dr. Gerald Raymond have been studying and researching this decease. That is until Dr. Rayminds recent move were he continues his great work. As this decease has an aray of symptoms this link provides additional and supporting facts. http://www.kennedykrieger.org/patient-care/diagnoses-disorders/leukodystrophy/adrenoleukodystrophy-ald. A special thank you to those that have been supporting this, re-posting the story and sending me info or sharing their stories with me.

  • C
    January 03, 2014 - 11:18

    Maybe a court reported shouldn't be reporting on health issues. I am not from Newfoundland, however this story was brought to my attention because my family is also affected by this disease and it actually sickens me that the media fails to do their research before they post a news story. There is not a lot of information out there about ALD, the majority of the information my family received was from our physicians and there is quite a bit of incorrect information in this story, don't always believe everything the media puts out there. If anything, for those of you who want to know about this disease, contact a physician to get your information so that you are getting the correct information!

  • LL
    January 03, 2014 - 00:07

    To Observer--Sometimes people share their health issues knowing that it may save someone elses life!! The woman in this story has obviously struggled with sharing this information but she did so to help others ! I admire this woman for speaking out about this rare disorder..Shame on you and your negativity..

  • Robert Churchill
    January 02, 2014 - 22:12

    WOW ... ! WOW ! ... WOW ! ... that is all ... !!!!!!!

  • Candy Brazil
    January 02, 2014 - 19:36

    Observer...a question for you. Who are the 'we' that you are referring to? Because you certainly don't represent my 'public' opinion. Thank god for media outlets and brave people who have the courage to discuss very personal and potentially deadly health issues. News that could bring awareness to those who could be unaware and suffering....and just may find a way to stop it. Imagine if no one discussed cancer or heart disease???? Oh wait....it's a health issue so don't talk about it..ssshhhhh....someone might find a cure...and we wouldn't want that now, would we!

  • Agatha
    January 02, 2014 - 15:28

    Observer! you are the most insensitive piece of S--T that ever opened your eyes. it's people like U that make our world so sad. Bonnie I wish you all the help that you need and may God Bless you.

  • observer
    January 02, 2014 - 14:33

    Why is this news? And why can't people keep their health issues to themselves? There is no dignity anymore when this woman feels compelled to go to the media to tell everyone what's wrong with her. It's way more information than we need or want to know. Another weird genetic disease from our small, isolated population. What ever happened to privacy anyway?

    • Kim
      January 02, 2014 - 17:03

      Observer , this women is a very private person ! The reason she is bringing this to the news is so she can help other people & set up a foundation to financial help people who don't have the funding to get extra support . Everyone has there own opinions but you don't know this women or what she has gone through ! My opinion is you have no heart & let's hope you never become sick ! Bonnie you are a very strong , brave women & I admire you for bringing this forward knowing what a private person you are to help other people . You go Girlfriend !

    • Mark
      January 02, 2014 - 19:06

      I personally think that this is a great News story. I totally understand why this woman went to the media.. Its was to help inform others who might not know that this exists It wasn't for self pity or attention . My family also has a rare condition that only 1 in 100,000 has.. It took years to diagnose.. then when they did start to understand it, another family was informed that this might be the same condition. And for you to personally go on here with the likes of your comment? That to me is a weird genetic disease in itself, its called Moron!! Keep your comments to yourself..

    • Pat
      January 02, 2014 - 20:53

      No one forced you to read it! Leave the woman alone. She is sharing her story for a reason - and apparently has more courage on her worst day than you do on your best, oh brave one who doesn't even have the guts to use your name. If you don't like it, don't read it. Go back to 'observing' your own navel.

    • wanda
      January 02, 2014 - 21:35

      She is a brave woman to bring this forward to help others deal with the same disease. Its called making people aware. Why wouldn't it be a news story? I for one will now donate to this charity so it can help others in her situation. She has more dignity than you will ever have in your little finger. Should we not talk about any medical issues now? Awareness brings cures and help to those who need it...

    • wanda
      January 02, 2014 - 21:42

      She is a brave woman to bring this forward to help others deal with the same disease. Its called making people aware. Why wouldn't it be a news story? I for one will now donate to this charity so it can help others in her situation. She has more dignity than you will ever have in your little finger. Should we not talk about any medical issues now? Awareness brings cures and help to those who need it...

    • wanda
      January 02, 2014 - 21:44

      She is a brave woman to bring this forward to help others deal with the same disease. Its called making people aware. Why wouldn't it be a news story? I for one will now donate to this charity so it can help others in her situation. She has more dignity than you will ever have in your little finger. Should we not talk about any medical issues now? Awareness brings cures and help to those who need it...

    • fanofobserver
      January 10, 2014 - 10:21

      I totally agree with your comment and i'm glad that someone else said it like it is rather than the alternate route of taking first class tickets on the pity train for this woman.... the article says she is a private person usually... I highly doubt based on the nice photo shoot. lol Some things belong in the circle.......

  • Jaime
    January 02, 2014 - 08:59

    Bonnie you are a very strong, brave woman with great determination and ambition. I have no doubt that you will pave the way for others and open the world's eyes to this disease. Rock on, chin up...and stay positive!