There is no cure for Cornelia de Lange Syndrome (CdLS), a rare genetic disorder present from birth that causes a broad range of physical, cognitive and medical challenges. Besides the love and care that parents provide for their child there’s not a whole lot they can do.

So they walk, or run.

“There are so many things they can’t control with this disease, but when they’re walking or running in an event that will raise awareness or funding, it gives them a sense of power,” said Bonnie Royster, director of the CdLS Foundation, adding there are some CdLS parents who have run in the Boston Marathon to bring attention to their cause. “This is something they can do for their child.”

One such event is the Walk for Will & Hope at Stony Creek Metropark, a fundraiser that’s been going on for the past 15 years.

This year’s event is Oct. 13 at 9:30 a.m.

This is untimed and there is no set donation.

Walkers and runners will gather at the park at 9:30 a.m. for the 10 a.m. start.

The Shelby Township couple who asked not to be named started the walk in honor of their son, who died shortly after he was born and his sister, who will be turning 17 this October.

Both children were diagnosed with CdLS.

Since starting the event in 2009, more than $75,000 has been raised and while that will help to support the CdLS Foundation, those who have supported the walk say it brings families together impacted by CdLS and raises awareness, not just of the syndrome, but those with special needs in general.

Compiled by the CdLS are the key issues facing parents/patients living with rare conditions:

• Diagnosis: Getting a diagnosis can be difficult and delayed, and there may be few therapies available.

• Access to care: Patients may have difficulty accessing specialists, clinics, care coordinators, and counseling support.

• Treatments are non-existent for 95% of rare disease patients. Pharma may not be appropriately incentivized to research.

• Social isolation: Patients may experience greater social isolation.

• Stigmatization: Patients may face stigmatization by society.

• Psychological support: Patients may not have access to appropriate emotional and psychosocial support.

• Daily life: Patients and their families may experience a significant impact on their daily lives. (Divorce rate is higher — no good numbers, but clearly a strain on a marriage).

• Time management: Patients and their families may have difficulty managing their time due to therapy appointments, household management, and other obligations.

• Knowledge of the disease: Patients and their families may be more knowledgeable about their disease than the professionals.

Not many people know about CdLS, which has been around since 1917.

“It was a Dutch pediatrician (Cornelia de Lange) who had seen a few kids with similar features that started putting it all together,” Royster said. “It was named after her.”

Years later, it was discovered that the disease or syndrome was usually due to an acquired change (mutation) in one of seven important developmental genes at or shortly after conception.

It has since become known as Cornelia de Lange syndrome because there is such a variance of conditions including: growth, with smaller body and head size; skeletal system, with smaller hands and feet or missing forearms and fingers; development, with delayed development, intellectual disability or learning disabilities; behavior, with ADHD, anxiety or autistic features; and internal body organs including the GI, cardiac, genitourinary and neurologic body systems. Many people with CdLS also have distinctive facial features that include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose (synophrys); an unusually low hairline on the forehead and the back of the neck; and curly, unusually long eyelashes. And while signs of CdLS may be obvious from birth or even prenatally, especially if severely involved, but in milder cases it may not be diagnosed until the child is older.

That’s what started the CdLS Foundation.

Parents who knew that something was wrong with their child but had no idea what it was began to ask questions.

“A few parents who knew their kids were sick reached out to 500 doctors and only one responded,” Royster said.

It was this information and further sharing by parents impacted by the disease that led to the founding of the CdLS Foundation in 1981, a national nonprofit organization that provides support and resources to families across the country.

It is estimated about 20,000 people In the United States have undiagnosed CdLS.

Michigan has 104 cases that the CdLS Foundation is directly connected with and while genetic testing is among the screenings infants go through after birth now, CdLS is never in the panel for testing.

“That’s something that we’re advocating for,” said Boyster, noting this should include all rare diseases that are known. “Nobody wants to find out that their child has a rare condition but if you know early on there’s a lot of information that can help. Those who know nothing are flying by the seat of their pants.”

FYI

The Walk for Will & Hope will be held at 9:30 a.m. at Stony Creek Metropark, 4300 Main Park Dr., in Shelby Township, Sunday, Oct. 13.

To register or support the event visit bit.ly/WillandHope2024

Those who cannot walk can also mail a donation directly to the CdLS Foundation, 30 Tower Lane, Suite 400, Avon, Conn. 06001, with “Will & Hope” in the memo line.

For more information visit CdLSusa.org or call 800-753-2357.