For patients with rare diseases and their families, life is sometimes isolating. It can be difficult to explain your condition. At the same time, it is incredibly important to find ways to amplify patient voices. Now, these stories – and other educational films – are available for streaming on “The Disorder Channel.” If you have Roku or Amazon Fire TV, you can now stream rare disease films straight to your home.

The Disorder Channel

“The Disorder Channel” is the brainchild of Bo Bigelow and Daniel DeFabio, both fathers of children with rare diseases. This year, the Disorder: The Rare Disease Film Festival was postponed due to COVID-19. It makes sense, as the globally prevalent coronavirus now has over 25.1 million cases worldwide. However, DeFabio and Bigelow questioned how they could get these films and stories in front of viewers. As a result, the channel was born.

Initially, DeFabio and Bigelow met at a Global Genes conference. However, as they discussed their children – Tess, with Hao-Fountain syndrome, and Lucas, with Menkes disease – they began to question why there weren’t more films in the rare disease sphere. Together, the pair decided to launch the film festival. In addition to raising awareness of rare diseases, DeFabio and Bigelow also hoped to unite the community and create connections. So far, the festival has been held in cities from Boston to San Francisco. However, the pair needed to get creative when COVID-19 got in the way. Their solution? Online viewing.

What Does the Channel Show?

The channel initially launched on July 8. If you check out “The Disorder Channel,” you’ll find a variety of films related to rare diseases. While some are comedies and fictional depictions, others are documentaries. In a sense, this makes the films even more accessible for everyone, as they can interact with the concepts in a way that feels personalized and safe. Additionally, the videos are often full-length, which isn’t usually possible in film festivals.

In addition to videos, “The Disorder Channel” will also offer a video form of “Stronger Every Day,” Bigelow’s podcast. In the podcast, he discusses life with his daughter Tess, who has Hao-Fountain syndrome. Caused by a rare USP7 gene mutation, there are less than 30 reported cases of Hao-Fountain syndrome worldwide. On his podcast, Bigelow, who co-founded the Foundation for USP7 Related Diseases, describes Tess as:

nonverbal, has autism and epilepsy, and is cognitively years behind her peers.

However, it is clear that Bigelow deeply cares for his daughter and hopes to raise awareness about her condition. He gives a lot of insight into how to deal with strangers who aren’t always nice, the journey to diagnosis, and what it means to be part of the rare disease community.

While the channel is marketed more towards the rare disease community, “The Disorder Channel” also offers other individuals to gain an understanding of rare diseases, treatments, and people. Additionally, it gives insight into living through difficulties, something that is hugely topical in today’s COVID-19 world.

Hao-Fountain Syndrome

According to the Foundation for USP7 Related Diseases, Hao-Fountain Syndrome is a neurodevelopment disorder caused by USP7 gene mutations (deletions or point mutations). Says the Foundation:

USP7 is a protein-coding gene that plays a role in tumor suppression, transcriptional regulation, immune response, and endosomal protein recycling. To date most cases are de novo, meaning the mutation/deletion has been spontaneous and not inherited.

Symptoms vary in severity. They include:

• Seizures
• Asthma
• Attention deficit hyperactivity disorder (ADHD)
• Constipation or diarrhea
• Developmental delays
• Autism
• Small hands, feet, and stature
• Scoliosis
• Acid reflux
• Low muscle tone
• Sleep apnea
• Hearing and speech difficulties
• Hip dysplasia
• Failure to thrive
• Feeding difficulties
• Skin picking
• Aggression, impulsivity, stubbornness

Because there are still so few cases of Hao-Fountain syndrome, there is admittedly still much to learn.

Menkes Syndrome

Daniel DeFabio’s son, Lucas, unfortunately passed away from Menkes syndrome this year. He was eleven years old. Originally, Lucas was diagnosed with Menkes syndrome when he was one. Life expectancy is usually between 3-10 years. According to the Genetics Home Reference, Menkes syndrome is:

a disorder that affects copper levels in the body. Early treatment with copper may improve the prognosis in some affected individuals.

Symptoms include:

• Difficulty gaining weight
• Failure to thrive
• Weak muscle tone
• Developmental delays
• Learning disabilities
• Low body temperature
• Feeding difficulties
• Sparse, kinky hair
• Seizures

When DeFabio was looking to raise awareness about his son’s condition, he decided to make a film. “Finding Help and Hope” highlights the need for families to live life and enjoy time with their children, even if the prognosis is grim.

Read the source article here.