About Project 8p Foundation
Chromosome 8p is a rare genetic condition with approximately 350 patients around the world and counting. Prevalence is unclear but published/estimated to be 1:10,000 1:30,000. We classify into several groups with 8p deletion, duplication, inv/dup/del, and other rearrangements and translocations.
Associated symptoms and findings may vary greatly in range and severity from case to case. Intellectual disability, congenital heart defects, epilepsy, autism, agenesis of corpus callosum, and sensory processing disorders are some of the diagnoses found with a Chromosome 8p karyotype. The majority of 8p individuals have developmental delays including disordered acquisition of cognitive and social competence and delays in reaching developmental milestones.
In most cases, Chromosome 8, appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons and are not inherited. Recently, we have found families where the mutation has also been inherited but different manifestations of the symptoms.
Chromosome 8p Clinical Features
There are many comorbidities with our 8p disorder. The impact of 8p conditions varies between individuals. Symptoms include:
• Global Developmental Delays
• Intellectual disabilities
• Seizures (epilepsy) - 50%
• Autism - 40%
• Apraxia (difficulty performing and coordinating specific movements including oral motor for feeding and communication for speech)
• Sensory processing disorder
• Motor planning dificulties
• Visual conditions
• Growth deficiency
• Feeding and digestive challenges
• High (hypertonia) and low (hypotonia) muscle tones
• Musculoskeletal issues such as hypermobility (lax joints)
• Mild craniofacial differences
• Sleep disorders
Get to Know Project 8p Foundation
Project 8p Foundation is a 501(c)(3) non-profit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today.
We were founded in Nov 2018 and represent 350 families and are growing rapidly. Our community is international and we focus on several goals for the organization. Project 8p’s organizational philosophy is built around a strong ethos of stakeholders that are patient-centered supporting collaboration, transparency, and resource sharing across related disorders to achieve the mission. Project 8p is committed to maximizing every opportunity and aspire towards scalability across other rare and broader neurological diseases and to develop programs of excellence. The recent launch of a newly established Project 8p led Commission on Novel Technologies for Neurodevelopmental Copy Number Variants is a collaborative initiative generating excitement and great promise in the scientific community.
To achieve its mission and goals, Project 8p remains focused on the following efforts: Research – The largest Project 8p program is sponsored research with academic labs, contract research organizations, and partnerships with industry.
Chromosome 8p Registry and Health Technology Platform - We have an investment in an Interoperable Technology Platform that incorporates patient reported data, clinical EHR/EMR records, and clinician/researcher reported data to support caregivers. The objectives are to:
• Better understand the disorder and natural history for each patient group
• Empower patients/caregivers to organize and manage their own health details and care
• Inform research strategies and decisions
• Create a standard of care
• Assess meaningful outcomes to ensure successful treatment options
Clinical Research Consortia and Centers of Excellence – Project 8p’s goal is to establish a working consortium of clinicians and providers that can help increase understanding of the disorder, establish effective protocols, and publish a meaningful standard of care. This will support translational research efforts in gathering relevant data for meaningful outcomes. Clinic models can be in collaboration with other related disorders within a hospital university setting. Utilizing telehealth practices, health coaches will discuss a variety of approaches to stay healthy and empower and educate caregivers on what symptoms to pay attention to and how to address them.
Community Support Programs - therapeutic intervention/education – Project 8p is designing a protocol to reach the international community with distance learning/education practices and interactive structured webinar series with measurable outcomes. Interventions can include pragmatic home-based therapy starting at birth and functional skills for all ages.
I am Especially Proud of...
Project 8p has an incredibly supportive community of families. We were able to organize the first Family and Science Conference in New York City in June 2019 shortly after forming. We benchmarked other organizations' conferences and were able to fund them at lower than average cost compared to other similar conferences. We had an entire team of volunteers that implemented an on-time agenda over 2 days at a state of the art facilities at the Columbia University campus. We did this in under 6 months, with 63 families traveling internationally, offered travel scholarships, with over 250 attendees. Presentations included all primary clinicians in the fields that represent the majority of symptoms for 8p heroes, including neurology, cardiology, epilepsy, psychiatry, and more. We had the NIH present as well as the FDA Open Door director. We discussed the importance of advocacy. We had a social worker with us for 2 days facilitating informal and formal conversations. We launched a Patient Leadership Board. We had two days of quality children's programming at no cost. The best part was our Beautiful Dinner over the Hudson River with an open bar and a DJ.
And we will continue to do it again!
Excited to REN because...
Much of our work overlaps and we hope to create synergies to find treatment for rare epilepsies if we work together. Our work often does not require disease-specific research only. I am hoping that we can prove that cross disorder work is equally important path to finding treatments that improve the lives of our communities.
My Journey and Motivation...
I am humbled by the positive encouragement of our community and saddened by the unmet medical need. I wrote this letter when I decided to start the non-profit when there were no organizations and no research and no clinicians understanding our disorder.
When we first received the Chromosome 8p diagnosis, we were told, “Good luck, she’s not going to Harvard. You should seek parent counseling.” As you can imagine, there were endless tears that emptied the tissue box on the car ride home. And after. The 1st brochure we received from a genetics counselor came with the caveat that it was 30 years old. This diagnosis was so rare that they couldn’t tell me what her symptoms would be, all they could do was offer a range. The range was so broad, it spanned from minor global delays to wheelchair-bound and questionable health. I was utterly scared and confused. All I kept thinking was, “That’s all you can tell me?”
That’s when I learned there was no central database for Chromosome 8p disorders or genetic conditions in this country, never mind the world. Months went by after the diagnosis with no info. Then I started scouring the internet. I found a couple of organizations and some basic databases. I started contacting any families I could find that were impacted by Chromosome 8.
Along the way, we decided to see our daughter for who she is and not what a brochure told us she could be. I have learned to forget about milestones and value the inch stones at her own pace, not mine.
When I hear my child’s voice with a faint “Hhhhi,” a dozen things go through my mind: my heart melts, I wonder how hard that must have been, I imagine neurons in her brain trying to send a message to the facial muscles, misfiring, and eventually her tongue moving and her breath producing that “hhhhiiii.” I am aware that it took 2 minutes for that motor plan, I am upset that it took that long, I am proud of her, I have tears of happiness and sadness. I can’t imagine how frustrating it must be when she has so many ideas to express and cannot, she wants to run alongside friends in the playground and cannot, and she wants to shout that she’s hungry and exhausted after a full day…and cannot.
But she can say hi, even if it took around 5 years and approximately 8,000 hours of all kinds of therapies. Could our journey to “hhhii” help other families? Could all of our collective experiences help each other if we only had a central repository of knowledge?
I am motivated to make sure my daughter can do everything she wants to do. That means coming together to find treatment. To help prevent others from being born with a genetic condition like this. To provide resources and a hand to hold for new families so that nobody needs to start from scratch and navigate the unknown like we did. To find a way to help the 8p heroes continue persevering with their beautiful smiles.
With Project 8p, I want to represent my daughter’s voice and its truth. I am her spokesperson, and one day, she will be the spokesperson for this foundation. I carefully listen to her communication cues, often it’s a wide-eyed stare that sees right through my soul. I have full conviction that she is my teacher and has given me a purpose that is beyond our little family. As I say this out loud to her, she claps and reaches her arms out to embrace me.
So you see, I almost need her more than she will ever need me.
I hope when you read this, you can relate somehow. She is my inspiration to Vnd a better, smarter way to respectfully fulfill her dreams.
By Bina Shah, Founder & President, Project 8p Foundation