A mum has opened up about her daughter’s battle with a rare genetic condition that causes her to smell sweetly of syrup and results in maple-scented urine.
Cheyenne Jones, a mother-of-five, is using social media to raise awareness about her daughter Sawyer’s unusual disorder – Maple Syrup Urine Disease (MSUD).
MSUD is an rare metabolic disorder that’s characterised by sweet-smelling urine and sweat when your body’s protein levels are too high as the liver cannot process them properly.
“Sawyer has classic MSUD, which means she was born with it and she was diagnosed from the newborn screening,” Cheyenne shared in a TikTok video.
“If they have not been diagnosed [when your child is older], it won’t be classic,” the mum added, noting that there is also intermediate MSUD which can manifest during periods of illness.
To manage the condition, Sawyer follows a strict low-protein, gluten-free, vegan diet to keep her protein intake low. She also takes amino-acid supplements and a special formula to ensure she gets enough calories, given the dietary restrictions.
However, sometimes Sawyer ends up ingesting too much protein, leading to a build-up of harmful toxins in her body and urine, resulting in the distinctive sweet-smelling urine. “So what are some signs and symptoms that maybe their levels are off?” Cheyenne began.
“For Sawyer, the tell-tale sign that she may have elevated levels is her energy level spikes and she becomes non-compliant, like she does not listen very well, unfortunately.”
When ill with other sicknesses, Cheyenne notes that Sawyer starts ‘stumbling around’ as if intoxicated, a symptom known as ‘ataxia’.
“I will say though, it is very very rare. You can google the symptoms all you want and if the only thing you’re googling and the only thing you notice is that there’s a maple-y sweet smell, chances are it’s not Maple Syrup Urine Disease,” she explained. “And this is normally caught before the age of five, so if your son or your daughter has these symptoms and she is between the ages of three and five years old, then there could be a chance.”
When talking about why she is so active in spreading awareness about the condition, Cheyenne said: “Awareness is just super huge. People need to know that there are rare diseases out there and that we don’t get all of the neat desidies that everyone else ‘normal’ or more found diseases have and conditions have.”
She went on to say, “I’m going to be advocating for Sawyer a lot more for MSUD in the community and hopefully this can turn into bigger things, not just for Maple Syrup Urine Disease, but for the rare disease community.”
What is Maple Syrup Urine Disease?
According to the NHS, despite its unusual name, MSUD is a severe genetic condition where the body struggles to process certain amino acids, leading to a damaging build-up in the blood and urine. It is an inherited disease that occurs when both parents carry the gene.
In normal circumstances, one’s body decomposes proteins from food such as meat and fish into amino acids, with unneeded excess being further broken down and expelled from the body.
Sweet-smelling urine and sweat are hallmark signs of MSUD, thus giving rise to its name. The disorder can also cause poor feeding or loss of appetite, along with weight loss.
In the UK, newborns are typically screened for various inherited conditions, including Maple Syrup Urine Disease (MSUD), around five days after birth. This is done through a foot prick test, which is then sent off for analysis.
If the test come back positive, treatment can usually commence within the first few days of the infant’s life and must be maintained throughout their lifetime, according to the NHS. However, some children may not exhibit symptoms of MSUD until they are a few years old.
If left untreated, the condition can lead to severe, potentially fatal symptoms such as seizures or falling into a coma. Untreated MSUD can also put children at risk of brain damage and developmental delay.
Those diagnosed with MSUD are advised to follow a low-protein diet to limit the intake of amino acids in their bodies.