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Welcome to the Clinical Picture Maker

The Clinical Picture Maker is an online platform which aims to facilitate the creation, organization, and dissemination of video documentation of rare diseases. The CPM includes the DAYTool, a web application which guides individuals with rare disorders and their families to record and upload videos demonstrating all different aspects of life with their rare disorder. The CPM also includes the SeeSystem Rare Disease Video Lexicon is a searchable, online video library providing rich, detailed visual documentation of many different disorders.

Aiding Diagnosis

Clinicians can observe the features of a disease in a variety of cases and levels of disease severity. By showing what the features of a disease actually look like, the database can help clinicians recognize cases and make accurate diagnoses.

Supporting Research

Enables researchers to observe the course of a disorder, view case studies, compare different cases of a disease, and even compare the features of different diseases. This allows researchers to make observations and see connections that can serve as a powerful base for future research.

Sharing Knowledge

Allows patients, families, and specialists to share their knowledge and expertise. Clinicians, researchers, and others from all over the world can easily explore questions in the Lexicon.

Challenges Facing People with Rare Diseases

The Diagnostic Odyssey

There are more than 10,000 rare and difficult to diagnose disorders affecting over 30 million people in the United States alone. For those who have one of them, simply receiving a diagnosis can be a major challenge.

Healthcare providers on the front lines of detection and referral have little to guide them on the visual, “in vivo” identification of the symptoms and behaviors associated with them. Parents may go from doctor to doctor just looking for a diagnosis for their child, and some people remain undiagnosed into adulthood. This “diagnostic odyssey,” can stretch on for years, causing frustration, anxiety, confusion, and also a delay in receiving treatments or therapies that could be life-altering or even life-saving.

“I would say to the doctor, ‘She’s not crawling, she should be crawling by now.’ We had no idea what was wrong."

-Parents of Kasey, a child with Angelman syndrome

is the average time it takes to get an accurate diagnosis for a rare disease.

of people are affected by a rare disease.

rare diseases do not have a foundation or support group.

Rare Disease Facts from GlobalGenes.org

Lack of Treatments

Even when a diagnosis is reached, 95% of rare diseases lack an approved treatment, so patients may be told that nothing can be done to help them (Global Genes, 2019). According to the Centers for Disease Control and Prevention, this lack of treatments “presents a significant, unmet public health need.”

The implication on health outcomes is dire: 30% of children with rare diseases do not live to see their fifth birthday. The development of new interventions for rare diseases involves many challenges, including small and geographically spread out patient populations, and a limited understanding of the natural history and progression of many rare disorders.

Access to Specialized Knowledge

These challenges are compounded by the fact that knowledge about specific rare diseases is often not readily available. Patients, families and specialists with valuable experience dealing with a particular disease may be separated by great distances from others who could learn from their knowledge and expertise. Specialized clinics may be far from patients who need them, and there is little opportunity for other practitioners to see cases of specific rare diseases and learn about how to care for patients who have them.

With greater connection and flow of information, the experience and expertise of both doctors and patients could be shared for the benefit of many others.

“I have seen families suffer through repeated incidents of poor management of their children with special needs. All this could have been avoided if more information had been available to the primary health care provider and to the families.”

-Cathy I. Filtz, Pediatric Physical Therapist, Pediatric Clinical Specialist Washington, D.C.

The Power of Video

Video is a powerful tool for both research and education, with wide ranging utility for clinicians, researchers, students, patients, and caregivers. Watch these examples to see what video can show.

See Symptoms & Characteristics

Video brings the list of symptoms to life, providing concrete examples to technical text descriptions of symptoms which can be mystifying without images and video.

Troy's Gait

Troy has Angelman syndrome. A major feature of AS is impaired mobility and a distinctive gait. It's hard to visualize the jerky, awkward gait when it's described in text. With video however, it's easy to observe, and later recognize, the gait of individuals with Angelman syndrome.

Footage: The Angelman Project

Oriel's Receptive Language Skills

Another feature of the disorder is severe speech impairment, which leaves most individuals unable to speak, or able to say only a couple simple words. However, most people with Angelman syndrome have strong receptive language skills.

This video demonstrates Oriel's receptive language skills. Watch as she makes signs related to the topic of conversation.

Footage: The Angelman Project

Unusual Finger Movements

One sign of autism spectrum disorder is the presence of repetitive or unusual behaviors and movements. In this video, Dr. Alexander Kolevzon gives commentary on these movements. Features like this can be hard to understand without seeing them.

Footage: Well Child Lens
Commentary by Dr. Alexander Kolevzon, MD, Professor of Psychiatry & Pediatrics at Icahn School of Medicine at Mount Sinai

See Interventions

Documenting the therapies available for different disorders can help parents see what their options are, and provide detailed information on how therapies work and why they're important.

Sam's Physical Therapy

Sam, who has familial dysautonomia, has worked with her physical therapist, Wen, since she was just 18 months old. Now, 29 years later, Wen still works with Sam to help keep her body moving and healthy.

Footage: The Hope Scenarios: Focusing the Lens on Rare Diseases

ASD Speech Therapy

This video, with narration from Deborah Fein, PhD, demonstrates speech therapies available to help toddlers with autism spectrum disorder develop their language skills.

Footage: Well Child Lens
Commentary by Deborah Fein, PhD, Professor of Psychology & Pediatrics at the University of Connecticut

See Changes Over Time

Multiple videos of the same individual can be used to track subtle changes over time, creating a video natural history of an individual.

Alex's Timeline

Alex has Angelman syndrome. These videos, a combination of home video taken by her parents, and video taken by our camera crew, create a remarkable timeline showing Alex's development.

Age 2

Alex's Seizures

Age 4

Alex Learning to Walk

Age 7

Alex's Occupational Therapy

Age 8

Alex's Gait

Age 12

Brushing Alex's Teeth

Age 13

Alex Swimming

Age 28

Alex Walks with Support

Kasey's Changes Over Time

Kasey also has Angelman syndrome. You can see in the videos below that in the span of just one year, Kasey experienced a significant decline in her motor skills.

Kasey Walking

Age 14

Kasey Walking

Age 13

Age 14

Kasey Eating

Age 13

Age 14

See the Perspective of Patients, Experts and Caregivers

By seeing into a patient’s daily life, viewers gain a deeper understanding of their perspective and experience. Video can also help spread the knowledge and stories of experts.

Gloria's Reaction to Her Daughter's SCD Diagnosis

Gloria knew nothing about sickle cell disease when her daughter was first diagnosed. However, she immediately sprung into action, and her journey to educate herself turned into a lifelong advocacy effort for others with SCD.

Footage: The Hope Scenarios: Focusing the Lens on Rare Diseases

Kelly's Parents Talk About Her Diagnosis

Kathy and Pius didn't initially think anything was wrong with their daughter Kelly. Thankfully, they went to a neurologist who recognized Kelly's disorder as Angelman. They also talk about coming to terms with the diagnosis, and deciding about whether or not to have another child.

Footage: The Angelman Project

Talking to Ben about His Grandfather's Passing

In this touching video, the parents of Ben, who has Angelman syndrome, talk about how they navigated a challenging event in Ben's life.

Videos like this can give caregivers and families ideas, and provide support for parents on how to handle different situations and events in their children's lives.

Footage: The Angelman Project

Joe's Emergency Room Visit

When Joe, who has Angelman syndrome, was injured in a fall, his family experienced challenges communicating his needs to emergency room staff. His parents and young siblings describe the event in an interview.

Footage: The Angelman Project

Ginger Tells an Emergency Room Story

Ginger, who has sickle cell disease, and is also an advocate for other individuals with SCD as well as other rare blood disorders, describes an experience she helped a family deal with at an emergency room.

Footage: The Hope Scenarios: Focusing the Lens on Rare Diseases

Accelerating Video Production with the Clinical Picture Maker

Over the last two decades, GeneticaLens has pioneered methods for documenting rare diseases with video. With the development of the Clinical Picture Maker, GeneticaLens aims to rapidly accelerate and expand this production of video documentation of rare disorders.

The Clinical Picture Maker platform facilitates all aspects of the video production process. One major component is the DAYTool, a web application which guides individuals with rare disorders and their families to upload videos documenting life with their rare disorder. The DAYTool highlights the voices of patients and their families, enabling them to share their experiences and perspectives. It also addresses the geographic and financial limitations of traditional video production.

Once videos are collected, the Clinical Picture Maker provides a workflow for reviewing and adding metadata such as symptoms shown in the video and topics related to the video. Once videos are reviewed, they are added to the See System Rare Disease Video Database. This final component of the Clinical Picture Maker allows users to search and filter videos based on diagnoses, age and gender of the subject, symptoms shown in the video, topics related to the video, and more. The Database will also contain educational pages on a variety of topics, and allow users to explore videos across different disorders, opening up exciting new avenues for research and learning.

Learn more about the project, who's involved, and where we are in development.

Learn More

If you are interested in participating, want to access videos in the See System Rare Disease Video Database, or have questions about the project, reach out to us.