The Hippocampe All Terrain Wheelchair

This story first appeared in the Information Point newsletter Our World in 2013, when Clair Tierney wrote about her experience of the Hippocampe All Terrain Wheelchair. 

Luke and Clair.

Luke is eight years old and has X linked myotubular myopathy. He lives with his mum Clair, dad Paul and sister Anna aged 11 in Coventry. Below Clair writes about her experience of the Hippocampe All Terrain Wheelchair.

As the years have gone by, taking our son Luke on holiday has become more and more difficult. We found that Butlins was the easiest holiday to manage as the staff were so accommodating and the apartments very large and spacious for our budget. Everything is flat and easily accessible. However, one of the hardest things was getting Luke down on to the beach. When he was much smaller and weighed less he was fine to carry down to the sea to see and touch the water and his wheelchair was small enough to pull on the beach, but as he grew and the wheelchair grew it was no longer possible. He would spend the time just sitting by the tent and building castles. Obviously we made sure he still had lots of fun but I couldn’t help feeling guilty as he watched his sister and dad go and have fun running along beach, playing by the sea, jumping over the waves.

We first saw the Hippocampe when visiting friends, they had entered a competition and won one. We thought it was brilliant. Luke had a go in it and he looked very comfortable. Our friends explained that it could be towed, pushed or self propelled and it was very easy to turn. It can go onto the beach, in water, on rocky ground and is even great for the snow. It was designed for disabled people by disabled people and is for any age to enjoy outdoor activities to their full ability. It was practical and lightweight and came with separate beach wheels which were very easy to change. We were impressed so we went home to research it but it cost £3,500, a lot more than we could afford.

So with supporting letters from our Children’s Community Nurse and occupational therapist we wrote to a few charities to see if they could help to fund one. They couldn’t. One said no because it is a wheelchair and Luke already has an electric wheelchair. Another said no because it was a leisure item not a necessity. We were frustrated by this because, yes he already has a wheelchair but he certainly could not use it on the sand, rocky ground, or in the snow and as for it being a leisure item, all children need leisure even the disabled ones but other children’s leisure is free, they just put one foot in front of the other and run like the wind. Unfortunately for our disabled kids, they cant do that, so we, the parents have to pay thousands of pounds for the same leisure. It seems cruelly unjust.

So, we then decided to research the possibility of hiring a Hippocampe for our holiday and came across Equipment Services in Somerset. They very kindly agreed to deliver it to Butlins and pick it up for the brilliant price of just £21 for the week. We were delighted. We can honestly say it was life changing for Luke, we all ran and played together on the beach and he said it felt brilliant racing around on the sand going in the sea, something he had never done before. If we had £3,500 we wouldn’t hesitate in buying one of these fantastic wheelchairs, especially as winter is now approaching and we have exactly the same problem in the snow as we do on the beach. We would highly recommend this equipment. It made our holiday and will look into hiring it again next year.

Two poems

These poems first appeared in the Information Point newsletter Our World in 2013. Patrick lives in Northern Ireland and is diagnosed with myotubular myopathy and had recently started writing poetry.

Patrick told the Information Point ‘I started writing poetry after being inspired by the great poet from Derry here in Northern Ireland, the late Seamus Heaney, who died recently. Seamus wrote about everyday life and ordinary people. I also like W B Yeats, Patrick Kavanagh and Edgar Allen Poe among others. Ireland has produced many great writers and poets down the centuries. I guess it is in the celtic blood to tell a story, be it in plays, songs or poetry. People and events in ones life can inspire you to write and when it comes together it can give you great satisfaction. I would encourage everyone to read their favorite poets and learn from the masters. When you reach the depths of despair or the heights of happiness, these are the times when your creative soul is at its best’.

Alone

Alone in a world of perfection
Standing out from the crowd
Longing for someone to notice
To look behind the disability
To see the ability
To say hello,
To say I love you
For the sun to shine on me
To warm the hearts that
Are cold with ignorance
I have feelings too and
want you as my friend.

The Vision

She was there at the bistro
This vision of loveliness
Spellbound by her presence
Her blue eyes on me
I offered a smile
What are you staring at? she said
My heart sank
Sorry, I muttered
Can I have a Panini, and can I see
You tonight?
Heaven’s door opened
When she said alright.

 

Titin mutations cause centronuclear myopathy

This story first appeared in the Information Point newsletter Our World in 2013, when Sarah Foye, Lindsay Swanson, MS, CGC and Elizabeth Torosian told the The Information Point about the discovery that mutations in the Titin (TTN) gene can cause centronuclear myopathy.

As you may know, the congenital myopathies are a group of inherited disorders (passed down from parent to child) that affect the structure of muscles. The class of myopathies known as centronuclear myopathy (CNM) have historically been named due to the muscle cells appearance under the microscope. The nuclei of muscle cells affected by CNM tend to be found in the center of the cell, unlike in healthy muscles where the nucleus is found on the edge of the cell. These internalized nuclei are what give CNM it’s name, but there are several genes known to cause various forms of CNM. These genes are MTM1, DNM2, RYR1, BIN1 and TTN however some genes still remain unknown.

New gene discoveries are taking place as muscle disorder researchers learn more about CNM and more technologies become available. One new technology being utilized in the research lab of Dr Alan Beggs includes whole exome sequencing (WES) and whole genome sequencing (WGS). These new technologies, which can be less expensive than traditional genetic sequencing, allow researchers to look at larger chunks of the human genetic code.

Using this technology, the Beggs Lab, along with a group of collaborators, discovered that mutations in the Titin (TTN) gene can cause CNM. Titin, the largest known protein in the human body, is coded by the TTN gene. It is a structural protein that acts as a molecular spring within the muscle cell, as seen in the drawing to the right. Although Titin has long been known to be a structural protein within the muscle cell, examination of the gene TTN has been limited due to it’s gigantic size. However, the use of new genetic testing methods like WES and WGS have allowed researchers to understand more about Titin and the TTN gene. You can read more about this in the article below.

Beggs et al, used the new genetic testing methods to screen a group of subjects who were diagnosed with CNM by muscle biopsy but tested negative for mutations in all genes known to cause CNM. Through this process, they identified that TTN mutations were likely the genetic cause in five individuals with CNM. You can read more about this in the article below:

However, there still remains a large category of people diagnosed with CNM whose genetic cause remains unknown. With new gene discoveries and new technologies, it can be expected that people can jump from the ‘unknown’ category into a category with a known gene. New clinical testing can help ease the diagnosis by testing for many genes simultaneously. The University of Chicago Genetic Services Laboratories is now offering a state of the art test in which multiple congenital myopathy genes can all be tested at once. Known as next generation sequence genetic testing. This type of testing is faster and cheaper than prior testing methods. This panel includes the TTN gene. If you or a family member have been diagnosed with MTM or CNM but never had a genetic mutation identified or confirmed through a clinical lab, please consider discussing this with your doctor or a genetic counselor.

One final point to note is that TTN mutations are known to cause a heart problem known as adult onset dilated cardiomyopathy. This can have important clinical implications for people who may have CNM caused by a TTN mutation and may be another important reason to have the genetic testing done. Additionally, any person with heart problems and a congenital myopathy may strongly consider TTN as a possibly cause.

International collaboration

Since 2011 the Myotubular Trust has been funding a grant to Dr Jocelyn Laporte at IGBMC in France to use next generation gene sequencing technology to find some of the other genes that cause myotubular and centronuclear myopathy. Jocelyn Laporte says ‘The team in Strasbourg is supported by Myotubular Trust to identify genes linked to myotubular and centronuclear myopathies using the novel genome sequencing approach. Due to this support the lab were able to participate to an international collaborative study that culminated in the identification of mutations in Titin in patients presenting with centronuclear myopathy. Titin is the largest protein of the human body and acts as a molecular spring during muscle contraction and relaxation. Other families with centronuclear myopathy that have previously eluded genetic diagnosis may turn out to be linked to this same gene. Researchers can now use this finding to better establish diagnosis and understand how these myopathies occur’.

The discovery of the Titin protein’s role in this condition is a great example of the power of international collaboration between leading neuromuscular research teams. This is really good news for our community

Genetic testing

If you have been diagnosed with myotubular myopathy but have never had your MTM1 mutation identified of confirmed in a clinical laboratory, you may want to consider enrolling in the MTM Genetic Testing study.

For European patients, where the culprit gene has not been identified via genetic testing, retesting can be requested via a clinician, as most diagnostic laboratories in Europe are currently validating these novel sequencing technologies. In Europe, such a request for re-testing must be made via a clinician, rather than directly to a laboratory and testing is free in some countries.

Food therapy for the soul

This story first appeared in the Information Point newsletter Our World in 2013 when Michael and Teena Crane told The Information Point about their son Scott and In Chef’s Hands, the organisation that he helped start.

Scott

The belief, food has healing powers is no secret; take chicken soup to cure a cold or an apple a day keeps the doctor away as examples. That belief is the foundation of In Chef’s Hands, a non-profit organization connecting renowned and respected chefs to individuals with special needs.

It all started with our son Scott Crane, ‘Mr Determinator’. Diagnosed with dominant centronuclear myopathy, Scott found his condition limited what he could do with food, like cooking, accessing certain restaurants and not always being able to eat out due to deteriorating strength.

However, when Scott was introduced to Chef Rodelio Aglibot (‘The Food Buddha’) for a behind-the-scenes look at making sushi, Asian cooking and preparing dinner for his family, he forgot all about his troubles, his illness, and his limitations. Rodelio and Scott knew they had discovered something special and in January 2012, In Chef’s Hands – Food Therapy for the Soul was born in Chicago.

Today the charity which Scott helped establish provides for individuals with special needs who have a passion for food and cooking, a culinary educational experience with renowned professional chefs. The program works to create an experience filled with food and fun, providing a respite from the distress of everyday life by using food as therapy for the soul.

The organization is designed to identify the personal interests of each individual to create a stimulating culinary session with a chef who shares that same passion. Whether it’s preparing a dish behind the scenes in a restaurant kitchen, selecting locally sourced produce at a favorite market, or simply swapping recipes and cooking stories over a meal, each encounter is meant to be as rich in experience as it is in flavor. The unforgettable epicurean adventures help individuals and their families find a positive outlet to channel their passions and emotions, while enjoying food that heals the soul.

Scott passed away on June 11, 2011 aged 23, the day notification was received from the Muscular Dystrophy Association that he had won the Robert Ross National Personal Achievement Award for 2012. However, Scott’s legacy, to help others and bring people together though good food lives on.

In Chef’s Hands continues to inspire and educate both chefs and participants and in January 2014, the New York City chapter will become operational and provide the same program that is in existence in Chicago.

The program can be established anywhere where there is a desire to do so and we are actively seeking special needs participants and looking to establish strategic partnerships with organizations and groups that work with the special needs community to provide a steady stream of participants for our program.

Further information

Learn more about Scott:

Make a wish (a visit to Disneys Animal Kingdom)

This story first appeared in the Information Point newsletter Our World in 2013, when Diana Manny told The Information Point about her family visiting Disney’s Animal Kingdom in Florida, after her son Luke, who is diagnosed with  X- linked myotubular myopathy, had a wish granted by the Make a Wish Foundation. 

Diana, Danin, Luke, Mikalela and Taylor.

Luke was nominated when he was three years old to receive a Make a Wish. He is a lover of animals especially elephants. Make a Wish after interviewing Luke offered to send him as well as our whole family to Disneys Animal Kingdom in Florida.

They started preparing by setting up the details of when we wanted to go. We choose October hoping that the weather would be mild enough for Luke to enjoy endless days at Disney. They set up a party where they presented his trip a week before the trip. The volunteers from Make a Wish came, decorated our home, brought Lukes favorite things to eat, pizza, lollipops, and lemonade. We then were presented the details of our trip. Seven days at Give Kids the World, three days at all four of the Disney parks, two days at both Universal Studios parks and a day at SeaWorld. Not to mention spending money for all the treats and souvineers Luke and his sisters desired. The next seven days Luke was filled with excitement like waiting for Christmas to come.

On October 17th in the early part of the morning the limo arrived. We all piled in and went on our way to airport. Flying was a blast. People from American Airlines were eager to help us on our way. At the end of night we arrived in Florida.

We were met with a volunteer from Give Kids The World who had our luggage already on a cart. He escorted us to our rental van and we were on our way to the resort. We arrived at Give Kids The World, Luke was the star. He was presented with his own Mickey Mouse and was promised that Mickey would be at the resort to meet him personally during our stay. We walked into our villa and on the table were presents for all the children. It was as if Santa had been there. We soon learned that Give Kids The World Village has a fairy that comes everyday and leaves gifts when you are out and about.

We spent the next seven days going to Magic Kingdom, Animal Kingdom, Hollywood Studios, and Universal Studios. Each day was filled with magic, from placing Luke’s special star in the wish tower at Give Kids the World Village to personally meeting Buzz Lightyear, Woody, Mickey Mouse and even Transformers.

I cannot thank Make a Wish enough for the trip. It was hands down the most magical special trip by far we have ever experienced. Lukes days were filled with magic in each and every day. No day was short of magic.

Luke was made to feel as if were the most important person on the planet by everyone he came across. He starred in a parade at Universal with Spongbob and got a high five from Mickey Mouse when he was in the Castle. His smile lit up the sky as much as the fireworks did.

Luke wasn’t seen as a sick child with a life threatening illness he was just a regular five year old boy who loved Buzz and Woody. The time he got to laugh and have fun with his family made it more special. He even went swimming in a special wheelchair at Give Kids The World and we got to meet another MTM family while we were there.

Its been an amazing journey the past five years since Luke was born. It is nice that Luke has been well and what a better way to celebrate that than by Make A Wish sending us on vacation. It was nice to say yes every day to the kids. To let them get whatever they wanted. Luke even bought treats for his classmates back home and his nurses. It was just a special time. Time that will be forever remembered no matter where our journey takes us. The memories are priceless and will be forever cherished.

Medical clearance must first be obtained for a wish to be granted.

Eligibility criteria and referral information can be
found on the Make a Wish Foundation website.

Make a wish (a visit to the Aurora Borealis)

This story first appeared in the Information Point newsletter Our World in 2013, when Sarah Foye told The Information Point about her family visiting the Aurora Borealis,  after her son had a wish granted by the Make a Wish Foundation. 

The Foye family.

AJ is a 12 year-old boy with centronuclear myopathy resulting from a Titin gene mutation. He recently had a wish granted by the Make-a-Wish Foundation to visit the Aurora Borealis in Alaska. Below AJ’s mum Sarah writes about the experience.

While in the Chicago area several years ago my family had the pleasure of meeting with Scott Crane and his family. Scott also had CNM but sadly, passed away in 2011. For those people who knew him, his positive upbeat attitude was infectious. His motto was ‘Spread smiles to everybody, everywhere, each and every day’. One thing that Scott spread to my family was the idea of creating a wish with the Make-A-Wish Foundation. Scott told us about his wish to meet Michael J. Fox and how much joy that brought to him and he strongly encouraged my husband and I to pursue a wish for AJ.

The Make-A-Wish Foundation grants wishes for children with life threatening medical conditions to enrich the human experience with hope, strength and joy. A wish is powerful medicine for children who are living with the day to day realities of a life threatening medical condition and can rejuvenate a child and offer a new sense of inspiration, hope and encouragement. The wish process is an opportunity for children to explore their most wanted dream and watch as it becomes a reality and a chance for the whole family to allow magic into their lives.

In April of 2012, it was determined that AJ was eligible for a wish. It was a very exciting time that started the process of working with the Make-A-Wish volunteers to target AJ’s one true wish. Wishes can be grouped into different categories including: Is there something you wish to BE? Is there someone you want to MEET? Is there a place you would love to GO? Is there something you would like to HAVE? Remember, it’s the child’s one TRUE wish.

AJ knew right away that he wanted to see the Aurora Borealis. The Aurora Borealis is an amazingly beautiful, breathtaking sight also known as the Northern Lights. It fills the night sky with miles of glowing, dancing lights that look magical and have an awesome scientific explanation. Our powerful sun creates solar flares, emitting hot plasma containing charged particles. This solar wind travels through space 93 million miles and then hits our planet, where Earth’s magnetic field (magnetosphere) deflects it, funneling it to polar regions like the arctic circle.

Miles above the earth, the sun’s charged particles collide with oxygen and nitrogen atoms, creating a magical glow of fluorescent green, blue or red. It may last hours, or just minutes. To see the Aurora Borealis, you generally need to travel close to the arctic circle, like far northern Alaska … in the winter. Brrrr! Then watch for it in the middle of the night.

So, with that planning in mind, we nearly had a heart attack. Would it really be reasonable to take a child with CNM to this kind of a location for a wish that may or may not even take place thousands of miles from their home? Well, with the help of the Make-A-Wish Foundation we found a way to make it work. On March 31 2013 our family saw the Aurora Borealis for the first time. It was a dream come true. We also saw it every single night we were in Fairbanks, Alaska.

It was very moving to celebrate the fulfillment of AJ’s dream. AJ created this wish from his heart and stuck with it, even in the face of challenging circumstances. He reached for the stars and pulled this wish toward him with his dreams, desires and determination. We were so proud of him. The feelings of joy, excitement and pride are hard to describe in words. Scott Crane would be proud too.

Medical clearance must first be obtained for a wish to be granted.

Eligibility criteria and referral information can be found
on the
Make-a-Wish Foundation website.

A visit to Slimbridge Wetlands Centre

This story first appeared in the Information Point newsletter Our World in 2013, when Mike Abram told The Information Point about visiting Slimbridge Wetlands Centre. 

Mike at Slimbridge Wetlands Centre.

Earlier this year Diane and Mike Abram visited the Slimbridge Wetlands Centre, a wetland reserve managed by the Wildfowl and Wetlands Trust. The centre sits halfway between Bristol and Gloucester on the estuary of the river Severn at Slimbridge and is one of nine wetland nature reserves located across the UK, each having its own unique natural habitat and wildlife. The centre boasts 325 hectares of protected wetlands and was the idea of Sir Peter Scott, also the founder of the World Wide Fund for Nature.

Inside the fox proof fence the reserve is home to a wealth of resident and migratory wildlife, it provides shelter and food for flocks of swans, geese and ducks in the winter and is an ideal breeding ground for waders in the summer months. At the reserve you can see rare birds from all over the world including hobby, kingfishers and redshank, as well as brown hares, dragonflies, wild otters, grass snakes and wild orchids. Below Diane and Mike write about their experience of the centre.

We visited Slimbridge Wetlands Centre earlier this year for the second time. As with our first visit, the centre left a very good impression on us, as it is very disabled friendly and as such, we wanted to share our experience with others.

Most importantly for us, as Mike’s mobility is now poor, the centre has a large number of buggies for its visitors, which we booked by telephone in advance of our visit. There is no charge for a buggy but there is a voluntary donation scheme with donations going towards the costs of maintaining and fixing them. Other attractions generally make a compulsory charge which is often much higher, so we were happy to leave a donation.

Being able to hire a buggy made pretty much the whole reserve accessible to us. There are boardwalks everywhere meaning a buggy user can get as close as anyone else to the wildlife at the centre including into the hides which have ramps leading into them. Being able to hire a buggy also takes a lot of stress out the day as there are no worries about falling or Mike being too heavy to support or push. We don’t have to worry about steps, stairs, slopes or explaining anything to anyone and are able to do the things we would have done before Mike’s mobility became impaired, so allowing him to re-gain his independence for a time. We are able to get around the centre, together as a couple, at a regular pace, which is great.

We enjoyed seeing birds from around the world with no barriers between them and us. We also saw wildlife in the ‘Back From the Brink’ exhibit, so called as the animals which are part of it have all come under threat at some point from factors like habitat destruction. The exhibit has beavers, otters, including otter cubs called Mini and Ha Ha (Di wanted to take these home with her), water voles, water shrews and harvest mice and is like going through a tunnel so making visitors feel as if they are in the same habitat as the small mammals that live there. We also went to the top of the Sloane Tower, which has a lift and provides the opportunity to see out over the reserve, the Cotswolds, the River Severn and the Forest of Dean.

In the summer the reserve runs Land Rover and Canoe Safaris and although we did neither, we know that the Land Rover has recently had a new lift installed into the trailer so that wheelchair users can enjoy this experience and we have been informed that the canoes are suitable for people with disabilities if they go with their carer and that reserve staff are always willing to help visitors too.

Overall we found the reserve to be very restful, like a walk through nature and probably the most accessible place we have ever visited.

Litany of Secrets

This story first appeared in the Information Point newsletter Our World in 2013 when Luke H Davis told us about publishing his first novel Litany of Secrets. A teacher at Westminster Christian Academy in St. Louis, he is married to Christy and is father to Joshua, Lindsay and Jordan who passed away in 2008.

Luke, Christy, Lindsay and Joshua.

Luke knows much about myotubular myopathy, Jordan was diagnosed with the condition and Joshua is affected also and in Litany of Secrets, Luke has drawn on his own experience to write a mystery novel that brings an MTM-afflicted hero to its readers.

Set in rural eastern Missouri the novel centres around St Basil’s Seminary, an idyllic center of reflection and study until a sudden, suspicious death of a visiting priest shakes the community to the core. Detective Cameron Ballack is called to investigate the matter. Facing hardship and tragedy of his own, and confined to a wheelchair, Ballack finds that the seemingly devoted members of St. Basil’s have skeletons in their own closets. When one murder follows another, Ballack must redouble his efforts to cut through the clouds of past sins before death strikes once more, this time with Ballack in its sights.

The Information Point recently spoke with Luke about Litany of Secrets, the inspiration behind his work and Detective Cameron Ballack.

What did you hope to achieve by writing about someone with MTM?

Part of my motivation comes from wanting to push the issue more into the public view. The more that people are aware of MTM and CNM, it’s my hope that we can slowly build a larger army of compassion that will react positively to the efforts of parents who care for their MTM/CNM children, those who live with MTM/CNM and to the researchers and doctors who pursue a cure.

That’s not to say writing the first novel (or subsequent novels) was easy. Part of that is the nature of the beast. It’s hard to write an arrest scene, and I had to build different strengths into my MTM detective that would compensate for the reality that he couldn’t fire a gun or slap handcuffs on a criminal. So I had to emphasize his prodigy nature, his photographic memory, and his steel-trap mind. But that went hand-in-glove with my overarching goal: to show that MTM/CNM people are truly handi-capable, not primarily handicapped.

I did get resistance from one publisher. She told me she didn’t believe the whole wheelchair detective angle, and she jokingly asked if he was going to chase murderers pushing himself at two miles an hour. I glared at her and asked if she’d ever heard of a power wheelchair and if she knew what their top speeds were. Needless to say, I didn’t go with that publisher, but it was sad that people have those prejudices. When I met with Dunrobin Publishing and Mark Sutherland, he bought into the whole plot-character-setting triangle and believed this was a story that had to be shared with the world. And now we’re doing just that.

Why set the book in Missouri?

I went to graduate school in St. Louis from 1993-1996, and our family moved here in 2008, so out of all the places I’ve lived, eastern Missouri was likely the setting I could work with most in a story. St. Louis fascinates me. It is a city still trying to finalize its identity; it is a cluster of smaller neighborhoods and truly is “the smallest large city in the States”; it faces some stock problems of most metropolitan areas; when two strangers meet here, the first question is “Where did you go to high school?” and we have a bourgeoning immigrant and refugee population that adds to the area’s diversity.

And why a Seminary?

Some of it had to do with the fact that–while Detective Cameron Ballack is a religious skeptic–he has a knack of getting called out to cases that take place in a church or religious context. I also liked the idea of exploring how, in the perceived safe haven of a spiritual institution, great and shocking evil can still erupt in a manner diametrically opposed to the vision and spirit of such locations. I will plead guilty to being inspired somewhat with what P.D. James did with the fictional St. Anselm’s College in Death in Holy Orders, but that also coincided with the fact that a real-life murder did happen at my alma mater here in St. Louis at Covenant Theological Seminary. By the way, I wasn’t a student at the time, and the murder itself remains unsolved.

Who or what inspired you to write?

When Joshua had spinal fusion surgery in 2007, I took a bunch of P.D. James novels to the hospital to read in my spare time. That got some juices flowing, but the desire to write expanded after our youngest, Jordan, died in November 2008. I found that I wrote a lot in a way of coping with his death. A year later, I wrote my first book–what I call a “relatiography”–a recollection of 200 events from when Christy and I first met all the way to the present. It went to some 300 pages, I had it bound professionally and gave it to Christy for our anniversary. Then–still dealing with memories of Jordan–I wrote my poetry book about his life, Through a Child’s Eyes. After I finished that, I was getting jittery again and needed to write something else. And it came about one day when I was getting ready for work, I had an impulsive idea and said, “You know what? I’m going to write a murder mystery. A whole series of them. And the detective will have myotubular myopathy.” And the rest is history.

Have you always enjoyed writing?

I’ve enjoyed writing for various reasons. I’ve always felt I can express myself better on the page than in verbal conversation. It has always fit with what I believe is an increasing introverted demeanor of mine. When I was fourteen years old, I was struggling at some points with writing. One time in class, my teacher read two essays from students, one for commendation and one for critique. I had done a poor job on mine, and Mrs Harbaugh had selected mine for critique. After she finished, she said, “Now that is one student I know can do much better.” Her written comments on my essay reinforced that statement. I recall being so mad at myself that I swore then and there that no matter what vocation I had, I would be a great writer and that essay would be the last piece of subpar garbage I ever wrote. So I give Mrs Harbaugh full credit for motivating me to write with excellence.

What was the first thing you remember writing and how old were you?

I think in fourth grade when I was nine, I wrote a story about a king who loved massive chunks of cheddar cheese. For the life of me, I don’t recall how the story turned out but I know I was hungry through much of its composition.

What authors do you admire?

Obviously, P.D. James is at the top of the list. How she balances plot, character, and setting is a juggling act that she’s refined over years of practice, and I’ve loved the depth of how she’s drawn Adam Dalgliesh. You can’t go wrong with Sir Arthur Conan Doyle, either. C.S. Lewis is another favorite, both for fiction (The Chronicles of Narnia) and nonfiction (Mere Christianity, The Problem of Pain, A Grief Observed). My dad is a great model for utilizing humor in nonfiction. Philip Yancey has helped me explore the areas of faith and spirituality where things might not make sense. For less intensive fiction, I have read a lot of M.C. Beaton’s work and enjoy her Hamish Macbeth mysteries. And a new admiration is James Runcie and his Grantchester Mysteries series. Obviously, I’m very heavy on British writers.

Do you have a favorite book/series of books?

Anything by P.D. James that stars Adam Dalgliesh. If I ever aim for a doctorate degree, that’s my area of study.

Can you tell us your plans for Cameron Ballack?

I have finished four novels already and am two-thirds of the way through the fifth. The ultimate goal is for the series to be eight books in length. His relationships will ebb and flow to a degree. There is advancement in the cards for him, but he will always be both keenly aware of his limitations and equally desirous that he be in a situation where he can investigate crime rather than oversee the detectives. He will be hard-nosed and gritty, but his determination can be tempered by a sensitive side fiercely loyal to his colleagues. There will be some realistic parallel with the real-life push for a cure. To be perfectly honest, while Ballack’s goal in each novel is to solve the crime, the larger arc of the series is the mystery within Ballack himself.

In my view, this is a series (of which Litany of Secrets is the first volume) which keeps people turning pages and discovering the colorful spirit and deep humanity of MTM and CNM individuals, and it is wrapped in great stories in memorable locales.


Luke H Davis is also the author of ‘Through a Child’s Eyes‘ a book of 26 poems and one short story told from his son Jordan’s perspective about the events in his life from his birth to when he died and beyond.

Conrad and the sunflower

This story first appeared in the Information Point newsletter Our World in 2013, after an email arrived out of the blue. It told a touching tale of a chid born with myotubular myopathy and a sunflower. Thank you Emma for taking the time to write, your kind words and for sharing lovely story with the world.

After trying for some time, last July, my husband and I found out I was pregnant. Earlier the same year my husband and I had some stumps ground out of our lawn leaving a few substantial piles of dirt in the yard. In one of the piles a sunflower grew – seeming to come from nowhere. We enjoyed the sunflower all summer and into the fall.

When our precious Conrad was born he was not breathing and was floppy. Long story short, after genetic testing we learned that Conrad had myotubular myopathy.

In my frantic search for information about Conrad’s condition, I came across the Information Point and read about the Sunflower Project. In that moment I knew that our mysterious sunflower was God’s way of telling us that He already knew what Conrad had and that he was preparing the way for Conrad’s life even while he was being knit together in my womb. Even when it seems that nothing is fair and the world does not make sense, God is in control and He has a plan for our darling little boy.

I am learning already that boys with MTM and the families who love them are very special people. Thank you so very much for all the work you have done to raise awareness about centronuclear and myotubular myopathy and for being here when I and my family needed you.