Toms River Mom's Card Auction Aims To Raise Turner Syndrome Awareness

TOMS RIVER, NJ — When Lori Kobular's daughter, Julie, was born, she had the camaraderie of being part of a group of moms who all had children around the same time.

They would share the ups and downs that go with parenting, the sleepless nights, the joy of milestones.

Over time, however, the bond drifted apart. That was because Julie was not hitting the same milestones as other children the same age because of a genetic condition, Turner Syndrome. In Turner syndrome, girls are born with an incomplete set of genes, missing part or even all of their second X chromosome. It has a wide range of effects, depending on the extent of the chromosomal damage, from physical differences to behavioral ones.

Julie was diagnosed when she was six weeks old, because her neonatologist noticed that something was off about Julie's body.

"They noticed that she had short arms, and puffy feet," Kobular said. The doctor ran a blood test called a karyotype test to check Julie's genetic profile and diagnosed the missing X.

"When we first found out, we didn't know anyone else who had Turner Syndrome," Kobular said. "We had friends who had children at the same time as us. Their children were advancing normally. It became very difficult when we would get together and I'd talk about Julie's problems, because they couldn't understand."

A lack of understanding is something Kobular says she has encountered all of Julie's life, not just from people they encounter randomly but even from medical professionals. And that lack of understanding is something she is working hard to fight.

One way she is fighting is through a greeting card auction she is hosting through the end of February, which is Turner Syndrome Awareness month. Kobular has more than 600 handcrafted greeting cards that have been donated by artists to the cause. The auction, being conducted through Kobular's Instagram account, is raising funds for the Turner Syndrome Foundation and spreading information about the disorder.

It is a complex disorder, Kobular said, because its impact can take many forms.

Turner Syndrome only affects females, and about half of those who have been diagnosed are completely missing the second X chromosome, according to the Turner Syndrome Foundation's website. Cases where a person has two X chromosomes but one is not complete is called Turner mosaicism, and there are cases where some of the female's cells have two X chromosomes and some cells have only one, the foundation says.

It is the second-most-common genetic disorder, estimated to affect 1 in 2,000 females, the foundation said, though the percentage may be higher because of the wide range of symptoms and because not everyone experiences the same effects. Many women may go undiagnosed.

Kobular said in the years of caring for Julie and learning about Turner Syndrome, she has met women who were not diagnosed until they were well into adulthood, because the symptoms and effects are so widespread.

The cause of the disorder is not known. It can affect how tall the person becomes, cause skeletal abnormalities, heart and kidney issues, and cognitive issues. It can leave the person infertile and send girls into menopause early because of a lack of hormones. Some girls with Turner Syndrome receive growth hormone injections so they grow taller and go through at least part of puberty.

"Most girls don't get diagnosed until puberty," Kobular said. "That's when they go to the doctor."

For Julie, who has mosaic Turner Syndrome, the effects are significant. She received growth hormone to help her attain some height, but struggles with learning disabilities and behavioral issues, Kobular said.

"Julie's actually gone through menopause," Kobular said. "She has osteoporosis really bad. But she has a memory like you wouldn't believe. She remembers everyone's names, where everyone works. She doesn't like to talk about herself, but she's very, very social."

Because Julie is an adult now — she lives in a group home, Kobular said — her role is to advocate for Julie.

"You have to fight for everything they need," she said. "That's one of the main reasons for the fundraiser. I want the doctors to do more research. They read about it in college, but how many (Turner Syndrome) births have you seen?"

Kobular said educating the medical community about it is a big concern, because of some of the negative issues her family has encountered in seeking Julie's care. There have been doctors looking for Turner symptoms described in medical texts that were completely unrelated to the medical care she was seeking, and other times where care was lacking.

While Julie lives in a group setting, she does come home to visit, Kobular said.

"When you're with her, she's a very happy individual. She's very appreciative of everything you do for her," Kobular said.

Kobular, who serves on the board of the Turner Syndrome Foundation, is appreciative of the response to the greeting card auction — from the artists who contribute the cards to the people who bid on them and buy them.

"They open their hearts and make hundreds of cards," she said of the artists who participate. "They are some of the most caring and loving people I've ever met."

She's hoping that love and care helps other Turner Syndrome families feel the love and care in the form of better treatment, by the medical community and the world.

Lori Kobular's Instagram account is mulchlady6 and she has linked the card auction here.

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