Earlier this week, we posted a brief survey on our Facebook page, posing the question, “What age was your child/adult when they received their diagnosis of Smith-Magenis syndrome (SMS)?” Our aim was to gather a swift snapshot of data in preparation for an article recognising the importance of Undiagnosed Children’s Day. The response was overwhelming, with a remarkable 150 replies, yielding some truly compelling insights.
Our main focus was on understanding the length of time parents and caregivers typically experience before receiving a diagnosis — essentially, the period they spent navigating life with an undiagnosed child or adult.
Overall, the findings of our survey aligned with our initial expectations, revealing that the majority of respondents received a diagnosis for SMS during the crucial developmental stages, between birth and 5 years old. However, what truly stood out was the number of undiagnosed cases beyond early childhood. Astonishingly, a significant 30% of participants shared that they had lived with an undiagnosed child for five years or more. Even more surprising was the discovery that 5% of respondents had endured over two decades of uncertainty before eventually obtaining a diagnosis, with some receiving it in their 30s, 40s, and even 50s!
For many parents and caregivers within the SMS community, their journey begins without a clear diagnosis. SMS is not routinely tested for in pregnancy, often leaving families navigating the uncharted waters of raising a child with undiagnosed needs.
At birth, SMS babies often do not exhibit noticeable differences from their neurotypical peers. It’s not until later, often around 12 months or older, that delays in developmental milestones become apparent. These delays, coupled with a spectrum of behavioural challenges like self-harm and explosive tantrums, often leave parents feeling isolated and overwhelmed.
Many parents can relate to the early years, watching their friends’ children reach developmental milestones while their own faced delays. Our survey revealed that by the age of 2, the majority (59%) of parents and caregivers, had an undiagnosed child. Some will have been initially labelled with Global Developmental Delay and remained undiagnosed—a SWAN (Syndrome Without A Name)—until a diagnosis with SMS came along.
Receiving a diagnosis is crucial when it comes to getting support and services, but it can be a bittersweet revelation. On one hand, it provides answers, connecting the dots of unique behaviours and challenges. On the other hand, it ushers a wave of emotions—grief, fear, and uncertainty.
Even with a diagnosis, the battle for support continues. The system’s reliance on specific diagnoses can leave individuals without the necessary resources, increasing feelings of isolation and neglect. This inequality highlights the importance of acknowledging and supporting the needs of undiagnosed individuals.
In addition to this, the path to diagnosis is not always straightforward. Despite advancements in genetic testing over the last few decades, the process remains complex and time-intensive due to the challenge of detecting all possible genetic variations. While the deletion of the RAI1 gene stands as the most common cause of SMS, occasionally, subtle alterations within the gene pose a significant challenge for detection. These subtleties frequently result in postponed diagnoses, further complicating the experience for those affected.
Conditions like SMS are not isolated occurrences—they are part of a wider spectrum of genetic disorders. Genetic Alliance UK estimates that approximately 3.5 million people in the UK are impacted by rare conditions, which though rare on their own, collectively represent a significant portion of the population.
Charities like Genetic Alliance UK provide a united voice for the rare disease community, working together with small charities like The SMS Foundation to raise awareness through their Rare Disease Day and Undiagnosed Children’s Day campaigns. By working together, sharing knowledge, and advocating for disability rights, we can effect meaningful change and support.
At The SMS Foundation, we are firm believers in inclusivity and support. Periodically, we deal with calls from parents and caregivers of individuals who haven’t received a formal diagnosis. Often, they reach out to us after their own investigations point to a condition that mirrors with their observed symptoms and characteristics. Whether formally diagnosed or not, everyone deserves access to information, resources, and support aligned with their needs.
On Undiagnosed Children’s Day, we stand together with all individuals living with rare conditions, SWANS, and those awaiting a diagnosis. Remember, you are not alone.
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