Vayle Rose – NTSAD Impact StoryMichael2023-09-15T14:35:54+00:00
Living with Canavan Disease: Sharing the Little Moments that Mean So Much
Living with Canavan Disease: Sharing the Little Moments that Mean so Much
When Dawn Mariano was in her thirties, she had a fulfilling career and a heart full of love to give. She wanted to have a child of her own but never found the right person with whom to start a family. With her signature determination, Dawn decided to have a child on her own.
Dawn’s health care provider mentioned expanded carrier screening to test for genetic conditions, but didn’t encourage it. Because Dawn wasn’t of Ashkenazi Jewish descent, her provider didn’t think she was at risk. Instead, Dawn bought a commercial health and ancestry test, which included reports of carrier status for certain health conditions—including Canavan disease.
The test came back all clear.
On New Year’s Eve in 2017, Dawn visited her health care provider for a fertility procedure. Afterward, Dawn had a good feeling. She told herself, I think this one might have worked.
Meet Vayle Rose
Nine months later, Vayle Rose was born.
Dawn describes Vayle as a happy, funny, smart little girl who loves being around people even if she’s a little shy at first with strangers.
As a first-time mom, Dawn kept a close eye on Vayle, watching for developmental milestones. In the weeks leading up to Vayle’s six-month check-up, Dawn grew concerned. She noticed that Vayle often held her hands in tightly clenched fists, something Vayle’s daycare teacher confirmed.
“When Vayle’s daycare teacher told me she was worried about her fists too, I knew I wasn’t just being an overprotective mama,” says Dawn. “But never in my worst nightmares did I think Vayle had Canavan disease.”
The pediatrician agreed to see Vayle a week before her scheduled appointment but didn’t seem too concerned. Then she measured Vayle’s head circumference and noticed that it had increased from the 50th percentile at four months to the 90th percentile at nearly six months.
“The doctor sent us to neurology for a scan to make sure there was nothing wrong,” says Dawn. “She said that there could be fluid in Vayle’s brain, which terrified me.”
Diagnosed with an Incurable Illness
The hospital’s neurology team examined Vayle and used rapid Magnetic Resonance Imaging (MRI) to produce detailed images of her brain. Like the name implies, the test is faster than a traditional MRI and doesn’t require anesthesia.
“That evening they told me that Vayle had something called ‘leukodystrophy’ and the prognosis was not good,” says Dawn. “It was the worst news of my life.”
Vayle was admitted to the hospital where she underwent an MRI to confirm the diagnosis. The next day, Dawn learned that her sweet Vayle Rose had Canavan disease.
Leaving the hospital, it struck Dawn that Vayle had just been diagnosed with an incurable illness, yet she didn’t look sick at all.
“We left the hospital, and she wasn’t sick, but yet she’s not going to survive if the statistics are what they say,” says Dawn. “And there’s nothing I can do to make her better.”
The Trouble with Commercial Genetic Tests
Searching for reasons for Vayle’s diagnosis, Dawn wondered why the genetic test didn’t show that she was a carrier of Canavan disease. She learned that commercial genetic tests only check the most common variants of diseases. In Dawn’s case, the commercial test examined eight diseases, including Canavan disease; however, the test only looked for the three most common variants of Canavan, when there are at least 50 variants.
In contrast, expanded genetic carrier screening tests whether a person is a carrier for many variants of more than 250 genetic conditions.
Dawn says that if she had known to pursue expanded carrier screening she would have found out that she was a carrier of Canavan disease.
Dawn notified the donor bank, who then notified the donor as well as the other parents who had used the same donor’s sperm to conceive children, because now their children may be carriers of Canavan disease.
Running, Running, Running
As a full-time working mom—a single parent—with a medically complex child, Dawn knew she was going to need help.
“I would take Vayle to daycare, go to work, leave work, pick Vayle up, take her to therapy, take her to the doctor’s appointments, do all the things,” says Dawn. “I was running, running, running constantly, and doing it all by myself.”
Dawn brainstormed ways to get more support at home. The COVID-19 pandemic propelled Dawn’s decision-making, and she and Vayle moved in with her mother.
Finally, Dawn could stop running. Working from home, Dawn could spend more time with Vayle, pause for a quick kiss and snuggle, and share the little moments that mean so much.
“When your time with your child is limited, you really have to value the time you have,” Dawn says. “I just want to be together, to be happy.”
Joining a Rare Community
When Vayle Rose was first diagnosed with Canavan disease, the hospital’s healthcare team recommended that Dawn look into the National Tay-Sachs and Allied Diseases Association (NTSAD). Dawn called the organization for support and connected with Becky Benson, NTSAD’s Family Services Manager.
For Dawn, NTSAD brought a much-needed sense of connection through its active and caring Community.
“They say the NTSAD Community is the family you never wanted to be a part of, but you’re so glad it’s there,” Dawn says. “Even when you have very supportive friends and family, they don’t get it. The NTSAD Community understands.”
As well as having a welcoming Community, NTSAD also plays an important role in patient advocacy. The organization helps individuals and families find reliable information, resources and equipment, and make connections to researchers.
“It’s so hard to be the parent, the caregiver, the nurse, the therapist,” Dawn says. “The fact that NTSAD helps me advocate for my child means there’s one less thing I have to worry about.”
Ask Me About Her
When Vayle Rose was first diagnosed with Canavan disease, Dawn thought about if and how she wanted to share the news. She reflected on the diagnosis she’d received from the healthcare team, which was bleak.
“They focused on all the things Vayle won’t be able to do, but failed to convey how beautiful her life would be and the joy she would experience,” says Dawn.
Today, Dawn and her family mark every milestone, and celebrate birthdays and half-birthdays with Vayle.
Dawn takes Vayle on short trips to create memories together. The duo has visited national parks, beaches, and nearby states. The trips are quiet, and Dawn and Vayle revel in each other’s company. Sometimes, they stay near the ocean and breathe in the salt air as the waves crash on the beach. Once, Dawn booked a hotel close to a concert venue so she and Vayle could listen to the music from the balcony.
These trips may not have been what Dawn envisioned when she was pregnant, but they mean everything to her. She’s creating memories for her and Vayle. She’s making sure Vayle knows how deeply she is loved—every single day. And, like any loving parent, Dawn wants to share her experience with friends, family and colleagues.
“My story isn’t what people expect when they ask,” says Dawn. “But I want to talk about my child, too. Please ask me about her, just like you would anyone else.”
We Care for Rare
If you’re struggling to find answers about your child, you are not alone. Trust your instinct, keep pushing for answers, and contact NTSAD’s Family Services team. We’ll provide accurate information on symptoms and diagnostic tools, as well as personal support you can rely on.
If you’re a healthcare provider, please encourage your patients to opt in to expanded carrier screening, regardless of their genetic background. Contact NTSAD’s Family Services team for more information on symptoms and diagnostic tools for Canavan and similar diseases.
If you’re thinking about starting a family or if a relative has a rare disease, please consider asking for healthcare provider for carrier screening.
If you would like to help support Rare individuals like Vayle, please consider making a gift to NTSAD’s annual fund, which provides programs, services, and support to individuals and families at no charge.
National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.
The content of this website is intended for informational purposes only and not intended to be a substitute for professional medical advice, diagnosis, or treatment.
The National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.
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National Tay-Sachs & Allied Diseases Association
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