Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

“The Boy in the Blue”: An MPS and Mental Health Awareness Project

 May 15: on this day each year, advocates, families, patients, and friends come together for MPS Awareness Day, designed to raise awareness and advocate for more research, treatments, and care for mucopolysaccharidosis (MPS).

This year, Kevin Mullins and his wife Katrina Fanneran-Mullins, whose son Ethan has MPS VI, wanted to do something a little different. MPS Awareness Day fell at the start of Mental Health Awareness Week. Like many people within the rare disease community, the Mullins’ understand the emotional and psychological toll that a diagnosis can have on families. To acknowledge the significance of MPS Awareness Day occurring during Mental Health Awareness Week, the family created a mental health support project for young people called “The Boy in the Blue.” As the website explains:

Through the format of a poem, ‘The Boy in the Blue,’ we have highlighted personal parts of Ethan’s journey and encourage readers to reflect upon their own feelings and experiences, making the text relatable and universal in terms of mental health challenges. To further explore the themes from the poem, we invite readers to select their favorite line or verse and to use their preferred art form to bring it to life.

Through this project, the Mullins family hopes to raise awareness and combat isolation. They recently shared with Patient Worthy more about their journey and why mental health awareness is so important.

Learning about MPS

When Katrina and Kevin welcomed Ethan into the world, everything felt perfect. He seemed entirely healthy for the first 18 months of his life and the new parents cherished their time together. Then some health concerns bubbled to the surface. The parents burst into action, pursuing care, but doctors didn’t seem worried. Says Katrina:

“Unfortunately, as first time parents, many of our concerns were either dismissed or deemed as ‘typical’ for a child of his age. Nobody really looked at the bigger picture to see that, collectively, his symptoms were not typical. As a result, it took about 12 months to get his diagnosis, being pushed from pillar to post until we finally got referred to the Evelina Childrens’ Hospital, which quickly diagnosed him with some form of MPS.”

It wasn’t until Ethan was 2 years and 10 months old that his family learned the exact type: mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome. The family was transferred to the care of Great Ormond Street Childrens’ Hospital almost immediately. Because this is a specialist hospital for both the care and research of MPS and related diseases, the family felt comforted by the guidance, knowledge, and experience offered during their rare disease journey. Their lead consultant, Dr. Maureen Cleary, was extremely knowledgeable and informed them on new developments. That being said, shares Katrina:

“There were still so many unknowns due to the rarity of the condition. So we turned heavily to the online communities of MPS patients around the world to try and learn what might lie ahead.”

What is MPS VI (Maroteaux-Lamy Syndrome)?

As Katrina and Kevin explain:

“MPS and related diseases are progressive, degenerative syndromes that are life-limiting. Most children are born seemingly normal but symptoms generally start to show from ages 2-4.”

There are multiple subtypes of MPS. Ethan’s type, MPS VI, is also called Maroteaux-Lamy syndrome. This rare disorder is caused by ARSB mutations which causes the body to lack a partial or complete amount of arylsulfatase B, an enzyme that breaks down glycosaminoglycans (GAGs) in the body. Without enough of the enzyme, the GAGs accumulate, causing impaired organ function and other symptoms such as:

• Mild-to-severe chronic pain
• Delayed or absent puberty
• Numbness and tingling
• An enlarged liver and/or spleen
• Sleep apnoea
• Frequent infections
• Cloudy cornea and vision loss
• “Coarse” facial features
• Skeletal, muscular, and joint abnormalities
• Hearing loss
• Learning difficulties
• Pulmonary and cardiac disease

There is no cure for MPS.

Coming to Terms with the Diagnosis

The day that Ethan was diagnosed changed the Mullins’ lives forever; as Katrina puts it, the experience was “earth-shattering.” Suddenly, they were faced with uncertainty about what their lives would bring and what would happen to their son. The parents share:

“Life as we knew it came to a sudden and abrupt halt. It took every ounce of strength to pull through that first year. Everything is new as a first-time parent, but being first-time parents to a child with a rare disease is a different kind of new, an anxiety-laden new, a new road we never expected to navigate. There was an incredible amount of information to digest and start to understand and an overwhelming amount of medical appointments and interventions. All of this had to be done whilst juggling work and finances, and of course, wearing a smile so that Ethan would not be impacted in his day-to-day life.”

Ethan was also thrown into a sudden whirlwind of doctors and nurses, hospitals and ambulances, tests and treatment, medicine and the ever-feared needles. It was an exceptionally difficult experience, especially since hospital visits seemed to come with more frightening news than positive. As Katrina and Kevin watched Ethan navigate this, they came to a realization: that they would have to be the experts on MPS. They would have to fight for his needs and be his voice. And they’d do it—as much as they could—with smiles on their faces. Their son remains exceptionally positive and resilient, and that has inspired those around him. Katrina says:

“We found a drive and motivation to advocate for Ethan and others living with MPS and wanted to be the reminder that, despite MPS, he could achieve and experience great things. That positive mindset has seen us through many challenging times over the years and has enabled us to ensure that Ethan has access to the best care and treatments available, improving his quality of life.

Ethan is 14 now and loves spending time with his sister Kaitlyn, brother Cohen, and dog Koby. As a family, we definitely look for the positives in life and like to promote a can-do attitude, even though we face many challenges whilst navigating life with a child living with a rare disease. Fun and togetherness play a major role in our lives and we are not shy in donning superhero costumes for physical challenges or pushing ourselves out of our comfort zones in tackling awareness or fundraising campaigns.”

The Need for Mental Health Support

Through their experiences, the Mullins family became well-versed in the mental health struggles that can come alongside a rare disease journey. An estimated 1 in every 3 people with a rare disease shares that they struggle with anxiety and depression. Alongside medical gaslighting, isolation, worry, stress, uncertainty, guilt, and a desire to live positively and find happiness but fear of not finding it, these factors can really take a toll on the community. Says Kevin:

“Mental health support is hugely important for people carrying the burden of a rare disease prognosis and for their families and friends. Rare inevitably means less support, less information, less awareness, less funding, and less access to treatments. This can have a catastrophic impact on mental health. Finding ways to cope and help lessen the burden is extremely important for the rare disease community, but all too often, this area of a rare disease life is unfortunately missed or overlooked by medical professionals.”

So the Mullins’ decided to launch “The Boy in the Blue.” They wanted to highlight Ethan’s determination and near-constant smile, a reminder to him that he’s brilliant. But the family also wanted to record the struggles and emotions of a rare disease diagnosis, and potential ways to take care of your mental health. Says Kevin:

“We want to share the highs and lows, the obstacles and challenges, the emotions, but also Ethan’s favorite things and the strategies he uses to make each battle a little easier to fight. Our greatest hope in sharing Ethan’s story is that through reading the poem, or by the art or words they’re inspired to create, others will be encouraged to think and talk about their own mental health, as well as consider the mental health of those around them. We also felt it vitally important to highlight that when it comes to the basics, the stuff on the inside that makes us tick, the things others can’t see, we are all more alike than different.”

The Boy in the Blue

The boy in the blue is just like you

And every other child and grown-up too.

He wants to be loved, he wants to belong,

To be supported by people who help him feel strong…

In school Years 4-7 (aged 8-12), Ethan went through a period where he felt more isolated and left out. When he was included in school sports days, it felt tokenistic; if his friends held birthday parties with more physical activities, he wasn’t invited. At the same time, Cohen and Kaitlyn were beginning primary school and learning about the importance of celebrating our differences. Kevin and Katrina share:

“With those contrasting views in mind, we wrote a piece with the lines ‘We’re told that we’re all different and that differences are cool, but something changes as we journey through our time in school.’ We wanted to acknowledge the importance of inclusion and how these lessons can be forgotten with students later becoming alienated because they are seen as different. The piece went on to encourage readers to, ‘Celebrate your differences, be confident and true, share your differences with others, so they can learn from you.’”

This year, they brought the old text back to life and created “The Boy in the Blue” with an increased focus on mental health, as well as recognizing that it’s okay to be different in our own unique ways! One of the core messages in the poem is kindness, understanding, and acceptance of others. Katrina and Kevin hope that the poem impacts people to be true to who they are and ‘shine the brightest shade of you’ to light the way for others.

How You Can Join In!

First, head to The Boy in the Blue to watch the project video; some amazing people that the Mullins’ have met read The Boy in the Blue. You can then input your email address to order a free “The Boy in the Blue” resource pack, which will include:

• A printable PDF file with information on their story
• Information on project involvement
• How to share art/poetry that you create
• The poem
• A PowerPoint including the above information

So far, a number of artists, families, schools, and organizations have gotten involved! You can see some of their submitted art here. The Mullins family hopes to engage as many people as possible and offer this as an accessible resource long beyond Mental Health Awareness Week. Says Katrina and Kevin:

“Everything we do has always been about hope, for without it, life with a rare disease would be almost too much to bear. If our story can provide even just a glimmer of hope for another family newly embarking on a rare disease journey, or perhaps a family or individual just struggling with the realities of life with a rare disease, then we would be extremely happy. But it’s not always easy, in fact, it’s rarely ever easy, but what’s important is that you try to always find a positive in every situation. As the saying goes, ‘every cloud has a silver lining’, but in our case, sometimes you just need to tilt your head to see it. We sincerely hope that from this project others will find encouragement to open up and discuss their thoughts and feelings, as well as discover some ideas for better managing their mental health, especially when they find themselves in difficult situations. Our greatest hope is that they find the confidence to shine bright and that support and kindness welcome them on their journey.”

If you are interested in submitting your art, you may email photos to [email protected] or share directly on Facebook, Instagram, or Twitter. The  Mullins’ hope to share, with permission, all of the creative works they receive on their social media platforms and in their gallery page on their website, and in doing so, create a large online community of mental health support.