February 28th marked Rare Disease Day, an international day of advocacy for those living with an uncommon medical malady. Patti Waszkiewicz of Holbrook spent the day at Intercontinental Capital in Huntington, where her husband, John, works. She was hosting a bake sale to raise money for research for their 4-year-old daughter, Emmy, who was diagnosed two years ago with CDKL5 disorder.
Most children affected by CDKL5 disorder suffer from seizures that begin in the first few months of their life. Most cannot walk, talk or feed themselves, and many are dependent on others for everything.
A few days later in New York City, Patti and two other moms from Long Island joined mothers from California, Michigan, Ohio and Pennsylvania and some women from as far away as Canada, Ireland, United Kingdom and New Zealand to meet for the “First Annual International CDKL5 Yummy/Mummy/Mommy Weekend.”
These 30 women all have something in common: a child born with CDKL5, a genetic disorder so rare that only about 600 cases are known in the world. Yet, four of these children are from Long Island, two live in the Sachem School District, and one is from New York City. Patti predicts that once doctors are more aware of CDKL5 and do more genetic testing to diagnose it, the number will increase dramatically.
Although the women came from many different parts of the world, they found comfort in one another. Before meeting in person, they had only corresponded through Facebook.
“There are not a lot of people who can relate to what I go through,” says Patti, the Regional Family Support Representative for the national CDKL5 organization. Coping with the unknown is really hard on a parent whose child has a rare disease.
“On the Yummy Mummy/Mommy Weekend we talked, shared stories, laughed and cried,” Patti says. “The entire experience was life changing.”
Not only did the women get to sightsee and shop in New York City, they were able to enjoy a well-deserved break from their routine and truly bond as friends.
“We have a slogan now: ‘Together We Are Stronger,’” Patti says. “It’s up to us to raise money and spread awareness.”
The women did just that when they were filmed outside the Today Show studio in Manhattan, wearing their green sashes symbolizing CDKL5 awareness. The organization’s founder, Katheryn Elibri-Frame of the UK, was interviewed by a news crew about CDLK5.
During their weekend get-together, the women shared therapies for their children and talked about the need for advocacy and respite care.
The women compared notes on what services and benefits were offered by individual state and foreign governments. “I found that New York has a very good support system,” Patti says, “We don’t have to fight to get the services we need,” and added, “The UK has better respite care available that we don’t have here.”
For Patti, the disorder means Emmy requires constant care, which she receives at home and the Developmental Disabilities Institute (DDI) in Ronkonkoma.
When Emmy was first diagnosed, Patti didn’t want to talk about it with her friends who have typical children.
“I asked, ‘Why me?’ Now I would do it differently,” she says, “and expose more of my life to bring more awareness.”
Like other parents with a special needs child, the Waszkiewicz family struggles to spend quality time with their typically developed children. Payton, 6, sometimes feels left out, so Patti says she makes extra time to have one-on-one time with her older daughter.
Research for a cure is of the utmost concern, but Patti believes that finding respite care is also an issue that needs to be addressed, so parents and caretakers can have an emotional and physical break from the special care these children need 24/7.
Patti is convinced that her daughter will be a CDLK5 success story. “She might go to college when she’s 21, not at 18,” Patti says hopefully.
“Emmy just might be the one who’s going to show us the way.”
For more information visit CDKL5.com or contact Patti by email at [email protected].
*This story appeared in the April issue of Milieu.