Becker Muscular Dystrophy: Through the Eyes of Nancy Jackson

NancyJackson-blogI was born November 13th, 1961 in Smith Falls, Ontario. For the first seven years of my life, I was a healthy little girl who enjoyed playing and could not wait to attend school. Then, at age seven, I was diagnosed with Becker muscular dystrophy –  a progressive, muscle wasting condition. Here is my story.

                My grade one teacher, who had a daughter born with muscular dystrophy, saw the signs. In many ways I was like every other kid my age, but I was slow in sports, I would frequently trip and fall, and I had trouble getting up from a seated position.  I was sent to see a specialist at the Ottawa Civic Hospital, who did a muscle biopsy on my right leg and determined that I have Becker muscular dystrophy.

By the time I entered high school, walking was increasingly difficult, but I was determined to keep going without a wheelchair. I would leave each class five minutes early, so I could beat the crowds in the hall to avoid getting bumped into and falling over. Believe me, some days those school halls seemed a mile long. Stairs were becoming a struggle, so the school arranged for my classes to be on the main floor in the morning and on the second floor in the afternoon.  After I graduated from high school, I went on to study computers at Smith Falls Alternative School.

Over the years, as my condition progressed, my family has had to made adjustments to our home. For example, when I was unable to climb stairs, a stair lift was installed so that I could reach the second floor. It was only a few months later that I would lose my ability to walk, and began using a manual wheelchair. When I no longer had the strength in my arms to move the manual wheelchair on my own, I transitioned into a powered tilt chair. I was surprised and delighted by the sense of freedom and independence that came with using the power chair!

As my muscles continued to weaken, it became increasingly difficult for me to get into and out of my wheelchair. My occupational therapist recommended some further home modifications – a ceiling track lift to help with transfers, as well as changing the stair glide to a platform lift to allow me to reach the second floor while remaining in my wheelchair.

Becker muscular dystrophy causes muscle weakness throughout my body: not only are my legs and arms affected, but also my breathing muscles. I no longer have the strength to breathe or cough on my own.  I rely on a ventilator, which is mounted on the back of my wheelchair during the day so I can get around.  I was prescribed a CoughAssist to help me clear mucus and prevent respiratory infection. Thankfully, Muscular Dystrophy Canada was able to help me obtain the CoughAssist (which is not covered by my provincial health care program).

I feel very fortunate that I am still able to live at home with my mom. My siblings live nearby, and my nieces and nephews are my strength each day. I have the most amazing home-support workers, provided through Ontario March of Dimes. I am so grateful for the care and support I receive…by my true circle of friends.

Sadly, Nancy Jackson passed away September 13, 2013.  Her obituary can be found online.

Take a deep breath, but don’t take it for granted: Breathing and Duchenne Muscular Dystrophy

The following article appeared in the Ontario Physiotherapy Association’s newsletter.

There is a growing body of evidence that proper respiratory therapies and supports will improve life expectancy and quality of life for people with Duchenne Muscular Dystrophy (DMD).

  • In a study of 157 people with Duchenne muscular dystrophy, patients who were not ventilated lived an average of 20.4 years, and patients who were ventilated lived an average of 31.0 years. (Konagaya et al, 2005)
  • Respiratory failure in DMD often occurs as a result of the inability to cough during otherwise benign upper respiratory tract infections. The earlier that airway clearance is taught and practised, the less likely is early respiratory failure, pneumonia and death. (Finsterer, J., 2006; Bach,J., et al, 1997)
  • Ventilatory support results in improved sleep, improved well-being and a slower rate of decline of pulmonary function (American Thoracic Society- Consensus Statement, 2004, 2009).

Given this evidence, we can understand the importance of focusing on respiratory care. Typically, when we first meet a boy with DMD, he is still mobile and his lungs are getting a healthy workout on a regular basis. As muscle weakness increases and he becomes less active, his vital capacity will become reduced.

Even at early stages of disease progression, it is important to facilitate maintenance of a strong cough. Blowing up a balloon is an effective way to practise and strengthen closure of the airway by the epiglottis. Blowing out candles reinforces the short, sharp blowing required for an effective cough. As the condition progress, therapeutic exercises may include blowing through a straw to move a cotton-ball around a table. (To make this exercise more fun, he can pretend to be playing a game of mini-soccer). Anything that demands a powerful burst from him will reinforce coughing strength.

 

Following the transition to using a wheelchair for mobility, it becomes very important to maintain an effective cough and range of movement in the chest wall and lungs. Teach parents how to reinforce the cough by using manual or mechanically-assisted cough techniques. Daily breath-stacking therapy has helped boys with DMD to maintain and, sometimes regain, their vital capacity. Breath-stacking – also known as “lung volume recruitment” – can be performed by taking a series of inhalations before exhaling or by using a modified resuscitation bag.

The physiotherapist should take an active, supportive role in the monitoring of respiratory function. The first signs and symptoms of hypoventilation are usually sleep-related:  restless sleep, frequent turning, nightmares or waking in panic, morning headaches, nocturnal sweating. These signs and symptoms should be shared with the respirologist. If the nocturnal O2 saturations are below 90%, it is time to consider night-time ventilation to stabilize his respiratory status. Breath-stacking and assisted coughing therapies should be continued.

As the condition progresses, daytime oxygen saturation levels – which are typically higher than during the night – may fall below 90%. Oxygen de-saturation indicates the need for daytime or 24 hour ventilator support. Signs and symptoms include: lack of interest in breakfast, daytime sleepiness and fatigue, poor concentration, irritability (especially in the morning), and breathlessness, often on transfers or when eating. Other signs of hypoventilation are failure to thrive, frequent chest infections and even delayed puberty.

In the middle of all of these gradual respiratory changes, there is young man who remains the same social being, with the same interests, desires, and needs as his peers. A 2005 study reported that general and mental health, emotions, social functioning and pain in young men with DMD, who were ventilated, were similar to the population without a chronic illness. They also reported involvement in activities such as wheelchair hockey, attending camps and going on excursions. For them, life had meaning and value.

It is important remember this and to support the social participation of boys with DMD. Laughter is great for their mental and physical health, as the act of laughing requires a burst of effort from their body.

Take a deep breath. Laugh. It’s good for you.

Eric Ferguson is a Physiotherapist at Children’s Developmental Rehabilitation Programme.

References:

Konagaya, M. et al (2005) Effect of positive pressure ventilation on life-span and causes of death in Duchenne Muscular Dystrophy. Poster presentation.

Finsterer, J. Cardiopulmonary support in Duchenne Muscular Dystrophy. Lung (2006) 184: 205-215.

Bach, J. R., Ishakawa, Y., Kim, H. (1997) Prevention of pulmonary morbidity for patients with Duchenne Muscular Dystrophy. Chest 1997; 112:1024-1028.

Ramelli, G.P., Hammer, J. (2005) Swiss physicians’ practices of long-term mechanical ventilatory support of patients with Duchenne Muscular Dystrophy. SWISS MED WKLY; 135: 599-604.

Muscles in Motion: a labour of love

mim8-USE this one2010 marked the first year for Muscles in Motion. An event I had been thinking about for more than five years and it was finally happening!

In 2013, our third year, we tripled our donations and helped create more awareness for those affected by neuromuscular disorders.

 

I remember the day clearly when I received a phone call from the specialist. I was 18 weeks pregnant with my first child and my nephew Garrett had just been diagnosed with Duchenne muscular dystrophy. The specialist told me it was urgent that I get tested to see if I carried the specific gene. My nephew Garrett had been diagnosed with Duchenne muscular dystrophy, and our family was just learning what he was about to go through and there was no way I was getting tested even with all the information we had. I would support my child however it would enter the world. During this time my sister received her results and found she wasn’t a carrier after all, but there was a gene mutation when Garrett was developing.

MIM4The more my family learned about DMD, the more we wanted to help in any way possible. In the days leading to my delivery we organized a way to store my cord blood in hopes it may help Garrett in the future. Unfortunately on the day of my delivery there were complications and I was unable to save the stem cells. What we thought might eventually be a cure or way to help Garrett was again out of our hands.

It is very hard to watch your family go through the emotions and procedures and you can’t do anything but be a support and help in any way they need. The next best thing I could think of was to create an event that at least would raise money and awareness of DMD.

MIM1I run my own personal training business and was able to create an event called Muscles in Motion in support of the Muscular Dystrophy Canada and the Red Deer Walk for Muscular Dystrophy. With the help of two great friends, we designed an 8km Trail Run and Team Fire Fighter Fitness Challenge. The trail runs through the scenic paths of Jarvis Bay Provincial Park in Alberta. The natural terrains and inclines make for a great, challenging run.

The fitness challenge was designed around fire fighters as they are the main supporters of the charity. I wanted to design a physical challenge that was based around fire fighter training. It consisted of 6 stations that lasted 8 minutes each. Each station is designed to challenge your physical abilities and how far you could push yourself. There is a saying you hear quite often “Don’t take your muscles for granted.” This is what I had in mind when creating an event that challenges every muscle so you can appreciate having your mobility.

mim7In our first year we generated $2,725. Our second year we doubled our attendance and raised over $5,526. This year we blew it out of the park. A kid trail run and fitness challenge was added as well as a silent auction and BBQ, raising just under $16,728. We had incredible sponsors and amazing volunteers helping out to make this event such a success. It was an incredible feeling to see the growth and I can’t wait for another great response next year.

I know this event will continue for many years and raise even more funds to help with research in finding a cure for this devastating disorder. Every day I pray that a cure will come tomorrow, but in the meantime I will continue to support those affected through the Muscles in Motion event and my beloved nephew Garrett.

Kimberley Reinhart is the Muscles in Motion organizer for the Red Deer Walk for Muscular Dystorphy.

PEI Fire Fighter volunteers to help others – as a Fire Fighter and Muscular Dystrophy Canada Supporter

Rod MacDonald

Rod MacDonald

Rod MacDonald is the chief of the East River Volunteer Fire Fighters from Prince Edward Island.  He has a full time job with Atlantic Enterprise Limited as a lines men and operator.  But that’s not all! Rod is also the liaison to Muscular Dystrophy Canada (MDC) responsible for organizing all the fundraising and awareness activities the department holds.  Rod has been fundraising with MDC for about 12 years, and  got involved in the leadership role in 2007.  He really enjoys being in this leadership position because, as he says it’s fun!  It’s become an adrenaline rush for him to challenge himself and the department to see how much money can be raised.  As well, it can be a fun team building exercise for the members to get together outside of fire fighter duties.

???????????????????????????????Muscular Dystrophy Canada is close to Rod’s heart due to his continuing support of the cause, and the friends he has  met along the way. Rod has a friend who has a neuromuscular disorder whom he and fellow department members have known for over 20 years . Rod says, “To see this person at 20 walking, and now confined to a wheelchair sometimes is hard to take. This is where I get my motivation to push harder and to get other departments on the island to fundraise.”

???????????????????????????????Rod cites the best thing that’s happened to him through his MDC work was receiving a heartfelt thank you from a father from Los Angeles, California whose  three year old son has Duchenne muscular dystrophy (DMD) during our Rooftop Campout. He explains, “ It just puts a lump in your throat. It is just amazing on how good news travels.”

Rod’s favourite event has become ??????????????????????????????? the Rooftop Campout.  East River’s first annual Rooftop Campout just happened on July 25 to 27th. Fighters braved the wind, rain and heat for 3 days camping out on the roof of the gas bar at the Ultramar and Robin Donuts at the Scotchfort Reserve on St. Peters Highway.  Rod spent both nights in the elements, and fellow Fire Fighters rotated through the other nights.  There were 14 men and women from the department assisting with the event by collecting donations, sleeping over and stopping by in the middle of the night to drop donations in the boot.  Several news outlets covered the event including CBC and The Guardian, the local newspaper.

???????????????????????????????The Rooftop Campout exceeded Rod’s expectations and he couldn’t believe the number of people who stopped by to thank the fire fighters for their efforts.  In 48 hours, the Fire Fighters raised $5,800 from the campout – what makes this even more remarkable is that the money was raised in a community of approximately 200 people.

Way to go!

Never Lose Hope

Ivana-blog AugustThere are no guarantees or promises in life. We never know what is next; it is all a guessing game. One minute you are on top of the world, rising above all else. The next, you are at the bottom, struggling to pick yourself up. Life is tough. It is no secret that you will stumble and fall down. Everything changes. Life is full of change and to exist, it is inevitable. If there is one thing I want you to remember it is this: Never lose hope. Life is going to try and push you into many directions and it is normal to want to go down in the hole if you feel defeated. But your strength is not going to be measured by the impact of all your hardships in life, but the refusal to allow these hardships to dictate who you become. You and you alone are responsible for your own life; nothing else is or ever can be.

In the dictionary, hope is defined as, “the feeling that what is wanted can be had or that events will turn out for the best.” If you want something in your life, I think you have to believe in yourself, even when nobody else does. What I have learned through business school and in life, is that sometimes it is failure that will push you harder and farther than success ever can. Sometimes, it is not the happy moments and accomplishments that explain how a person got to be where and who they are. Sometimes, I think it’s the things they tried to do and couldn’t do. The things they’re still struggling to do. If you read biographies of some of the most accomplished individuals, you will find that they had a desire for change, for something to happen. They faced obstacles and challenges and instead of staying where they were and being frustrated with the circumstances, they took a risk and believed in themselves. These are the ones that have known defeat, known struggle, known loss, but somehow found their way. This does not just happen. You have to be willing to fight against the odds and not be shackled by fear or insecurity or doubt.

Never losing hope can be applied to almost any aspect of your life. Whether it’s getting accepted into University, finding a job, finding yourself, or waiting for a better day to come. This is when you find out exactly what you are made of, what you’re capable of. If life did not test us, how would we ever be able to define our character? You may fail more often than you win and it’s up to you to overcome the difficult, the mean, the unfair. Do not let difficulties cripple your life. Whatever you want to accomplish, no matter how many doubts you hear, do it. A diagnosis cannot stop you. It may slow you down, but you can do this, do it for yourself. Prove it to yourself. See where it takes you. What’s inside of you cannot be stopped. Don’t lose hope in yourself.

Ivana was born in Sanski Most, Bosnia & Herzegovina but moved to Canada at the age of 3. She was diagnosed with LGMD a few years ago and it has forever changed her life.  She is a regular contributor and her blogs will be everything she has learned along the way and what she continues to learn today.