A mother has taken to social media to share her daughter’s battle with a rare genetic condition that causes her to smell sweetly of syrup – and results in maple-scented urine
A mum has candidly spoken about her daughter’s struggle with a rare genetic condition that leaves her smelling sweetly of syrup, leading to maple-scented urine.
Cheyenne Jones, a mother-of-five, is turning to social media to spread the word about her daughter Sawyer’s unique condition – Maple Syrup Urine Disease (MSUD).
MSUD is an uncommon metabolic disorder marked by sweet-smelling urine and sweat when protein levels are too high because the liver can’t process them properly. “Sawyer has classic MSUD, which means she was born with it and she was diagnosed from the newborn screening,” Cheyenne explained in a TikTok video.
“If they have not been diagnosed [when your child is older], it won’t be classic,” the mum pointed out, highlighting that there’s also intermediate MSUD which can appear during times of sickness. To keep her protein levels in check, Sawyer adheres to a strict low-protein, gluten-free, vegan diet, complemented by amino-acid supplements and a special formula to maintain adequate calorie intake due to her dietary limitations.
Nonetheless, there are occasions when Sawyer consumes too much protein, causing a build-up of dangerous toxins in her body and urine, which results in the characteristic sweet-smelling urine. “So what are some signs and symptoms that maybe their levels are off?” Cheyenne asked.
“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.”
Cheyenne, a mother dealing with her child’s rare illness, shared that when her son Sawyer is sick with other ailments, he begins ‘stumbling around’ as if drunk, which is a symptom known as ‘ataxia’.
She clarified the rarity of their situation, saying: “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,” and added, “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.”
Cheyenne emphasised the importance of awareness. She also expressed her commitment to advocacy, saying: “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.”
Maple Syrup Urine Disease (MSUD) is a serious genetic disorder, as described by the NHS, where the body cannot process certain amino acids properly, causing harmful accumulation in the blood and urine. It’s an inherited condition that manifests when both parents carry the gene responsible for the disease.
Under normal circumstances, our bodies break down proteins from food like meat and fish into amino acids, with any excess being further broken down and expelled. One of the tell-tale signs of Maple Syrup Urine Disease (MSUD) is sweet-smelling urine and sweat, hence 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 MSUD, around five days after birth.
This is done through a foot prick test, which is then sent off for analysis. If the test comes 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.