In August 2021 News Center Maine ran an article introducing former British army Major Chris Brannigan. Brannigan, forty-one years old, was prepared to do anything to help his daughter Hasti, age 9, manage a newly diagnosed and rapidly progressing rare disease called Cornelia de Lange syndrome (CdLS).

When Hasti received her initial diagnosis, her parents, through online research, found that gene therapy was being used successfully for such conditions as spinal muscular atrophy. They contacted local doctors and doctors in several other countries asking if they would consider looking into gene therapy for their daughter.

Hasti’s father and her mother Hengameh found that the cost to investigate CdLS through clinical trials would be around three million dollars. But once they realized that it may be possible to develop a therapy for Hasti and the other children with the disease, Brannigan felt as a father there is the only choice that he would make.

Brannigan has already raised one million dollars on an earlier 700-mile walk in Great Britain. To date, his U.S. walk raised $125,000.

Time is of the essence because he is competing with a disease that will get progressively worse in Hasti’s later years.

Obvious Symptoms at Birth

Brannigan and Hengameh could tell something was wrong when she was born. Even before they took Hasti home from the hospital, they noticed that she was underweight and “jittery.” Hasti had a seizure within 24 hours after arriving home.

Hasti did not walk until she was two years old. At four years of age, Hasti had blood tests that searched for CdLS. The results came back negative much to her parent’s relief.

Hasti’s family and doctors then enrolled her in the U.K.’s two-year-long Genomes Project. The process included searching for mutations or gene errors. This time results found that Hasti really did have CdLS.

Currently, her doctors have been managing Hasti’s disorder with a number of daily therapies including hormone replacement injections plus language and speech therapy.

About CdLS

Little is known about CdLS, which is defined as a genetic disorder. It appears to result from a mutation in a developmental gene possibly at or before conception. It is not inherited. There are seven critical developmental genes but it only takes one mutation to cause CdLS. The CdLS Foundation estimates that the disease occurs in one out of every ten thousand births.

Symptoms include but are not limited to problems such as autistic-like behavior, seizures, and body malformations. The CdLS Foundation estimates that sixty percent of adults and children have some form of injurious behavior that is self-inflicted.

Brannigan told Good Morning America that CdLS symptoms gradually get worse and that was the motivation for his walk. He said that the idea behind the barefoot walk was to make it as difficult as possible and demonstrate how hard daily life is for his daughter. At the finish line, he will have walked 1,200 miles across 12 states within 53 days – barefoot.

Brannigan’s long journey began in August of this year starting out in Bar Harbor Maine, the home of the gene research laboratory. He chose to complete the walk at Camp Lejeune, North Carolina to be with his military friends.

Where Does Money for Rare Disease Research Come From?

Brannigan explained that families coping with rare diseases do not have the same financial options as others in similar situations. Therefore, he believes that the best option is to “fight endlessly.” He acknowledged that there is no money to provide research for rare diseases.

The Brannigan family created Hope for Hasti, a charity designed to fund research for CdLS therapy. Brannigan also decided that they would need a fundraising event that would not only raise awareness but hopefully raise money for research. He felt this might reverse the deficit caused by the COVID pandemic.

A Professional Opinion

Wendy Bickmore M.D., a director of the Edinburgh MRC Genetics Unit is of the opinion that gene therapy may not be a cure but only a treatment for some of the CdLS symptoms.

Bickmore told Good Morning America that gene therapy involves adding back an extra copy of the mutated gene. The other process involves CRISPR gene editing. Using CRISPR’s molecular scissors, the spelling mistake of the genome is corrected. Both these processes have the same goal, which is to attempt to repair the genetic effect.

Cathleen Lutz M.D. senior director at the Bar Harbor lab told Good Morning America that the Jackson Laboratory will handle preclinical research. Lutz explained that currently, the mouse models they are using have various genetic mutations including Hasti’s mutation.

Lutz explained that CdLS may be caused by a number of genetic mutations and one therapy may not be appropriate for another. She admits that they are in unfamiliar territory and exploring the therapeutics’ potential.

On a positive note, should gene therapy not be applicable to CdLS, Lutz is confident that they will have gathered enough information to work with other potential therapeutics.

Announcing a Partnership

The CdLS Foundation and the Jackson Laboratory have announced that they are coordinating research efforts to include all genes involved in CdLS. A repository will be created that will contain new and existing mouse models that have CdLS features. Various treatments will be tested.

Brannigan’s Walk Wounds

Brannigan recently reported that he has cut his feet, encountered glass, and cannot even count the blisters. He also acknowledged that there have been some slightly dangerous road conditions.

But he says these inconveniences are balanced by the kind people he meets on his journey. Many have offered food and even housing accommodations for the night.