Cameron and Julia discuss what it’s like to live with Shwachman Diamond syndrome (SDS).

Written by Claire Baggott, project manager, Better Together for Healthy Bone Marrow

Julia, mum to eight-year-old Lara with Shwachman Diamond syndrome SDS, and Cameron, who was diagnosed himself as a young adult, met with me to discuss their stories and the advice they’d want to pass on to others facing a similar diagnosis.

SDS can be hard to diagnose. “It’s so rare, it’s hard to put a pin in it,” says Cameron, who was diagnosed unusually late at the age of 17. “I got really sick when I was younger, they saw scarring on my liver and assumed that was the cause of everything. So they kept an eye on my liver.” It was when he was transferred to adult care that Cameron says efforts redoubled to get him a diagnosis, “They had a good search and one day they found an old document about SDS from ages ago. They did some tests, and it was confirmed.”

Julia’s daughter Lara was just eight months old and had just started nursery when she fell ill. Everyone assumed it was chicken pox, but it turned out to be a bacterial infection, kingella kingae. Lara then developed sepsis and was referred to Birmingham Hospital, where she was suspected of having autoimmune neutropenia, until a test of her stool and genetic testing confirmed SDS. By the time the diagnosis was confirmed, Lara was three.

SDS is a rare genetic condition. Common symptoms include: poor digestion, haematological and skeletal abnormalities, faltering growth, poor stature, a reduced immune system, developmental delay with potential psychological and social problems.  Dental issues and an increased risk of developing certain blood cancers are also common.

Getting out there

As a parent, Julia tries to see Lara as “any other child” but it’s difficult when your child’s immune system is compromised so they’re more susceptible to dangerous infections. Lara also has a nut allergy, asthma and eczema. “It can be tempting to keep people with SDS sheltered, but kids have to be kids,” Julia says.

This often means deciding to take reasonable risks.  Julia tends to keep her away from soft play as they’re easy places to pick up infections, but if it’s a party, she won’t make Lara miss out.  “You just have to be prepared—have everything with you and go for it andkeep washing your hands! You put it into the corner of your mind. You don’t want it to be a defining trait of your daughter for people around you.”

Cameron agrees. “It shouldn’t define who you are.” He’s recently been travelling the world, with trips with his family and work to places as far flung as Hawaii and Antarctica.

Travelling with SDS

As someone with SDS there are extra things to consider, “I have to make sure I have enough Creon [an enzyme supplement that many people with SDS need to aid digestion], be wary of making sure I don’t cut myself and a bit cautious of what I eat and interact with in terms of flora and fauna.” He also has to plan for fatigue, “You just need to build in times to rest, like plan in time for a lie in instead of going out all day. Recharge your batteries.”

Living with anxiety

Living life to the full can help with the anxiety that Cameron and Julia agree is a consistent aspect of living with SDS. “It’s easy to get hung up on blood monitoring” explains Cameron “I think it’s important to try not to compare yourself with other’s experiences or look at worst case scenarios.” It’s the main piece of advice he wants to pass on to others with a similar diagnosis “Don’t worry too much about the future. You could be severely unwell in the future and get leukaemia. But just because something might happen, doesn’t mean that it will.”

Cameron considers himself lucky that his clinician recommended SDS UK as soon as he was diagnosed. Finding their website made a real difference, “There’s so much more reliable and accurate information compared to Google, where a normal headache might mean you have brain cancer or you’re about to have a seizure—you can really fall down a rabbit hole.”

There’s another side of SDS which Julia and Cameron feel families need to prepare for. “The physical side is massive but it’s very important to look into the neurological side too,” says Julia.

Getting support at school

SDS affects the whole body, including the brain. “Many people with the condition also have neurological differences, such as autism or ADHD,” explains Julia.

She would encourage families with any concerns to work closely with their childcare provider.  “When Lara’s nursery felt she wasn’t developing socially and emotionally to meet expectations, they worked with us to investigate why, and eventually advised us to apply for an Education and Health Care Plan (EHCP).” An EHCP is an official document that outlines a child or young person’s special educational, health and social needs, and the support they require. “It helps make schools accountable for meeting an individual child’s specific goals.”  The plan is reviewed annually and has gone with Lara through school, “This has meant that Lara has had detailed information about her needs that went with her with school from nursery, and continues to do so throughout school, which has been invaluable.”

Lara is now nearly nine. “That work at a young age has helped us and her school to understand her and meet her needs better.”

Cameron remembers how he struggled in school for a long time before getting learning support. “If you have someone who understands you and how you think, that makes a massive difference.”

“Challenge things and jump up and down a bit!”

Having to advocate for your child is something you learn as a rare disease parent. Julia’s advice is “know your child, know yourself and don’t doubt yourself. I have been in situations in hospital where I was not happy, you need to trust your gut and sometimes feel you can challenge things and jump up and down a bit!”

Last winter, Lara was in hospital with pneumonia and a whiteout of one of her lungs. She was in hospital for ten days and had her chest drained. Julia remembers how “one of the hospitals failed to x-ray and assumed it was something else. After that experience I would ask more questions, make sure more investigations had happened and more causes considered. I have learned to question more and be more assertive. Always remember that as a parent you are also an expert when it comes to your child.”

“If you get any offer of emotional support then take it.”

After he was diagnosed, Cameron says “I just put it to the back of my mind and coped with it.” But after he lost a friend to SDS, that brought everything home and his mental health was severely impacted, “Someone with SDS can live just as long as a regular person.. So when they died it shook a lot of us, it got bad for me. I wouldn’t leave the lounge, I struggled to go to the toilet, I was so scared of every headache. I was in a state of panic. But I saw a psychologist and it completely changed my outlook on life.”

SDS UK, in collaboration with the other Better Together Partner charities, now offers a range of psychological support to families. Cameron says “It helps massively.  If you get any offer of emotional support then take it. The earlier you can get support the easier it will be. You can learn skills to control your worry, and just live.”

“It can be easy to forget that Lara can so quickly become unwell,” says Julia, “She’s usually full of energy and bouncing around like a loony!”

This is the main message that both Julia and Cameron wanted to get across. That people with SDS can just live—and live life to the full.

Collectively, the organisations in the Better Together for Healthy Bone Marrow Alliance recently published the Rare Voices report that highlights the impact of living with a rare condition affecting bone marrow. You can read the report or order a free print copy at super-rare.org/report

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