Rare Disease Community Rallies for Infant with Rare Disorder
We are sharing this story here on RUN because we hope that it shows other undiagnosed families that there is a small but very active community of citizens, companies, and non profit organizations who are willing and committed to RUNNING within them: they are not alone. We will never give up.
Written by Karen Ho: “It all began with a tweet. The tweet came from Robert Selliah of American Med Chem (1) , asking if anyone out there might know of clinics with genetic sequencing capabilities in India. He was tweeting on behalf of Karen Ho, a scientist at Lineagen (2) and CSO of NGLY1.org (3). She, in turn, was asking on behalf of a family in India who had come to her attention through a mutual friend. This family’s infant daughter needed genetic sequencing to help diagnose her developmental disorder.
A prior attempt by this family to get sequencing testing done by an organization in the U.S. had failed. The necessary buccal swabs (large Q-tips used to collect DNA by gently rubbing them against cheek and gums) had been lost in the mail or stuck in customs, and the family had been told there was nothing more that could be done. Of course, this news simply fueled the parents’ resolve to get help for their daughter through other channels, and in the course of talking to a dear friend of theirs, got their story through to Karen.
The response to Robert’s tweet was rapid. In particular, Dr. Prasanna Kumar Shirol of the Organization for Rare Disease in India (4) and Strand Life Sciences (5) stepped forward to help with information on sequencing tests offered by Strand.
Gina Szajnuk, Founder of Rare Undiagnosed Network (6), responded to an email from Karen informing her that their mutual friend and fellow rare disease hunter, Reid Robison, CEO of Tute Genomics (7) was actually leaving quite soon for Hong Kong and India. When Reid kindly agreed to transport the swabs to the family, Karen hopped in her car with the kits and met Reid before he went through security at the airport.
Unfortunately, Reid then had visa troubles at the India border, finding that his “instant” visa request was not as instant as he thought. For a few hours, it looked as though after getting the buccal swabs so close, he was going to be turned away at the border. Prasanna and the family immediately offered to help from inside India, and his visa came through just in time.
The buccal swabs safely reached the family, after being mailed via Indian Express post from the city of Rishikesh, in the foothills of the Himalyas (photo above) by Reid.
Meanwhile, after scoping out the technology and price comparisons of many US-based and India-based companies for genetic testing, Karen received the wonderful news that Dr. Michael Paul, CEO of Lineagen, had decided to offer whole exome sequencing to the family as part of a validation study – for free.
Lineagen’s Genetic Counselor, Allison Ortega, reached out to this family to give them counseling, insights into what the sequencing service entails, and support, while Karen reached out to FedEx officials to help with the safe transport of the diagnostic sample across Indian border and US customs.
Recognizing how tricky this transport process could be, Lineagen Customer Service Specialist Sujata Bangera-Mallick, who was attending a wedding in India at the time, volunteered to catch a local flight to obtain the sample from the family. Luckily, it did not have to come to this: Thanks to the immediate response of Mr. Lokanath Mishra, Senior Strategic Fellow at FedEx (8) in the US, and Mr. Babu Alexander who manages FedEx operations in Chennai, Karen and the family were able to assemble a stack of paperwork with the necessary documents, forms, and signed letters from physicians that would be necessary for efficient transit. Mr. Alexander even offered up his personal cell number to help the family at any time. As a result of his and Mr. Mishra’s help, the sample was shipped on June 1 from a city in India, and arrived in excellent condition on June 3 in Salt Lake City.
The sample is now being processed by Lineagen. We hope the results bring the family some much needed answers and brings closure to their diagnostic odyssey.
This story is just one of many that shows how a community can rapidly come together in the aid of a child. May there be many more for our undiagnosed community.”
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1 American Med Chem is a Nonprofit Corporation committed to discover and develop medicines to treat children who suffer from rare or neglected diseases.
2 Lineagen (firststepdx.com, mchat.org) accelerates and enhances the diagnostic evaluation of medical conditions so that the best possible outcomes can be achieved. The company’s commercial offering, FirstStepDx PLUS, provides integrated genetic testing, counseling, and developmental screening to aid in the comprehensive diagnostic evaluation of individuals with neurodevelopmental disorders.
3 NGLY1.org eliminates the challenges of N-glycanase I deficiency through research, awareness and support
4 Organization for Rare Diseases India strives to catalyze the rapid development and delivery of affordable diagnostics and treatments for rare diseases through innovative collaborations and partnerships among stakeholders to benefit rare disease patients in India.
6 Rare Undiagnosed Network’s mission and vision is to bring genome sequencing into clinical practice to help undiagnosed patients better understand these conditions – and to join together as we improve the lives for all those affected.
7 Tute Genomics is a Utah-based company that is powering the world’s genomic knowledge with a cloud-based solution for precision genome-guided medicine. Genomics is changing healthcare as we know it and Tute is helping to shape the future of medicine: unlocking the genome, personalizing treatment and powering discovery.
8 FedEx Corporation is an American global courier delivery services company headquartered in Memphis, Tennessee.