Rare syndrome brings challenges to family

It took years of tests, trials, and misdiagnoses before Carol Johnson knew why her 15-year-old son, Julian, was different than other children.

Julian was diagnosed with Prader-Willi Syndrome, a “genetic disorder that occurs in approximately one out of every 15,000 births,” according to the Foundation for Prader-Willi Research Canada website.

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“The common characteristics defined in the initial report included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass and early onset childhood obesity), hypotonia at birth, insatiable hunger, extreme obesity, and intellectual disability,” reported the website.

While it was a long road for Carol and Julian to get to a diagnosis, Carol is just happy that they have made it this far.

From the time that he was born, Carol has just been thankful that her son is alive following two difficult pregnancies before Julian.

It has been a struggle for Carol to make sure her son got the medical attention he needed, she says, with many difficulties that modern medicine could not explain. Within the first month, Carol was offered by a doctor the opportunity to just walk away from her son.

“They didn’t think he’d be able to do anything. It took a long time with a lot of therapy, a lot of asking for help from a lot of agencies. At the beginning, it was really scary.”

From breathing, eating, and sleeping problems to behavioural and mental health issues, Carol says it is an ongoing roller coaster of medical professionals saying they are going to offer testing and a chance to explain what Julian was going through while not having any more answers six months later. It was a moment of relief that something was going to be done without anything actually coming from it, she says.

Many times, Carol says she had to do much of the research herself while also pushing doctors to test Julian for things like sleep apnea and weight studies.

After the Prader-Willi diagnosis, all of Julian’s behaviours and medical history made sense.

“Failure to thrive was the first one and we didn’t see the food seeking but we saw the weight gain. He was never full but we didn’t see actual obsession.”

Of course knowing the diagnosis on day one would have made things easier, says Carol, but things have not been easy even following the diagnosis. Carol is still doing a lot of her own research and finding her own support services for Julian.

Even with a rare condition, none of what the few professionals know about people with Prader-Willi is set in stone, says Carol, and many times when Prader-Willi is portrayed in the media, it is always the worst and most extreme behaviours related to the syndrome.

Julian is the rare in a rare disease, she was told by his psychologist.

“His IQ level is higher than most people with Prader-Willi, which makes it more challenging in some aspects to stay one step ahead.”

Another challenge is getting people in Julian’s life to understand what he and his family are going through.

With an obsession to food and forever feeling hungry, Julian would constantly be eating if given the option.

Julian’s diet is heavily regulated, says Carol, but outside the home, that can be very difficult to watch and have people follow.

“Impulse control is huge…he’s not the same as everyone else and he’s not going to be. Everything is trial and error.”

For Julian, things are going to continue to be different as he gets older. Life after high school will not be the same as his big brother, Alex, who just recently graduated from Humboldt Collegiate.

Julian’s life is a roller coaster in itself with some days feeling like he is a normal 15-year-old,  days when he does not feel like a normal 15-year-old, and days where he wishes he was a normal 15-year-old.

No matter what day he is on, Julian knows his mom will be right there with him.

“She’s the best person I could have to help.”

For Carol, while it has been a crazy ride, seeing her son become the person he is makes everything worth it.

© Copyright Humboldt Journal

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