A 16-month-old has a rare condition that makes his tongue double in size. Here's what you need to know about it.

Katy BushBaker Roth uses a breathing tube in his neck because his enlarged tongue makes breathing on his own difficult.

  • 16-month-old Baker Roth has Beckwith-Wiedemann syndrome, a rare condition that caused his tongue to double in size, People reported.
  • “It’s really hard not hearing him laugh, cry, or speak,” Baker’s mother told INSIDER.
  • According to the National Institutes of Health (NIH), Beckwith-Wiedemann syndrome affects about one in 13,700 newborns globally and can cause both cancerous and non-cancerous tumours to grow at faster than normal rates.
  • Roth also developed childhood liver cancer as a result of the condition.
  • Beckwith-Wiedemann syndrome is typically caused by a gene mutation, according to the NIH, and symptoms include tumours, abnormal growths on and inside the body, and low blood sugar, according to the National Organisation for Rare Disorders (NORD).

Most toddlers spend their time at playgrounds and daycares. Baker Roth, however, has spent most of his life at hospitals. That’s because the 16-month-old suffers from Beckwith-Wiedemann syndrome, a rare condition that caused Baker’s tongue to double in size, according to People.

This condition has hindered Baker’s verbal development, and also makes it difficult for him to breath. If that wasn’t heartbreaking enough, it also caused him to develop hepatoblastoma, a type of rare childhood liver cancer.

“It’s really hard not hearing him laugh, cry, or speak,” Farrah Roth, Baker’s mum, told INSIDER. “It has not been easy, but I can’t see our lives without him now.” In an effort to spread awareness and help her son, Farrah set up a GoFundMe page that documents the toddler’s journey through chemotherapy

According to the National Institutes of Health (NIH), Beckwith-Wiedemann is a rare syndrome that affects about 1 in 13,700 newborns globally. The condition could be even more common, however, because oftentimes symptoms go undiagnosed.

Here’s everything you should know about the rare disease.

Beckwith-Wiedemann syndrome is usually caused by a genetically mutated chromosome

According to the NIH, Beckwith-Wiedemann syndrome is typically caused by certain types of gene mutations. These can occur a few different ways, like through the mutation of a person’s chromosome 11 or through methylation, a process that can disrupt gene regulation and cause overgrowths like the one Roth experienced with his tongue.

Bake Roth BWS 3Savannah RothRoth has an abnormally large tongue, one common symptom of the rare disorder.

Because there are a number of gene-related causes, genetic testing is the best way to determine if a person has Beckwith-Wiedemann syndrome. NIH noted that genetic testing can involve discussing family medical history, giving a person a physical exam, performing laboratory tests, or a mixture of these methods.

Doctors first detected Baker might have the disorder when his mother went to the hospital at 31 weeks pregnant for preeclampsia and had some tests done. When he was 3 weeks old, blood work confirmed Baker did indeed have Beckwith-Wiedemann syndrome.

An abnormally large tongue or stomach, as well as low blood sugar, are often signs of Beckwith-Wiedemann syndrome

In many cases, the National Organisation for Rare Disorders (NORD) noted that abnormally large body parts like the tongue or abdominal are signs of Beckwith-Wiedemann syndrome. In some cases, however, the abnormal growth could occur inside the body and be less detectable. In fact, Baker had abnormal intestinal growth that required three surgeries when he was just a week old, his mother told INSIDER.

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NORD also noted that low blood sugar is another symptom of the disease since overgrowths and increased insulin production can occur.

People with Beckwith-Wiedemann syndrome have an increased risk of developing cancerous and non-cancerous tumours

tumours are another common symptom of the disease, and usually detected during childhood. According to the NIH, about 10% of people with Beckwith-Wiedemann syndrome develop cancerous and/or non-cancerous tumours. The most common types are Wilms tumour, which leads to kidney cancer, and hepatoblastoma, which leads to liver cancer.

Typically, people with Beckwith-Wiedemann syndrome can lead healthy lives, with their abnormal growths becoming less noticeable as their bodies continue to grow. For newborn babies, consistent monitoring of their blood glucose levels can help keep them healthy, while infants and children should have regular ultrasounds to make sure their kidneys and abdominal area remain tumour-free.

Most importantly, parents of children with the disease should speak with their healthcare providers since treatments vary based on each individual’s needs, NORD explained.

Visit INSIDER’s homepage for more.

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