Wednesday, July 8, 2015

Whole exome sequencing revisited

In March, movie producer Gordon Gray and his wife Kristen learned that both of their daughters suffer from an incredibly rare degenerative brain disorder for which there is no cure.
The producer — known for inspirational sports movies like The Rookie and Invincible — is now in a race against time to raise the $10 12 million needed to fund medical research he hopes will find a cure before the disease claims his daughters' vision, mobility and then lives.
The couple, who live in Los Angeles, quickly founded the Charlotte and Gwenyth Gray Foundation and launched a social media fundraising campaign…
In September 2013, the Grays' older daughter, Charlotte, now four and a half, began having trouble speaking.
Over time, the parents watched their little girl's ability to communicate degrade "from 8-word sentences to 5-word sentences to mixing up words," says Kristen.
After Charlotte began speech therapy, her parents still felt that something wasn't right.
Over Christmas that year, the three-year-old began having muscle tremors and was taken to a pediatric neurologist.
A year of misdiagnoses — from autism to epilepsy — followed until a relatively new DNA sequencing technology called whole exome sequencing finally solved the medical mystery for them in March…
But it was still devastating to hear the diagnosis: a form of  Batten disease called Late Infantile- NCL Batten Disease CLN6…
After learning that inherited genetic disorders often affect siblings, the Grays had their then 20-month old daughter Gwenyth tested and found out she suffered from the same exact genetic mutation...
Since launching the foundation — and their social media blitz the last few days — the Grays have heard from other families affected by the disease, many of whom have already lost children.
"I've had 10 to 15 families with kids who have degenerative brain disorders that are similar who have expressed hope in all that's been happening in the past couple of days," says Kristen.
The couple is optimistic they'll be able to reach their goal and cure the disease — because failing is not an option.
"Our plans are to cure our daughters," says Gordon. "We have to be optimistic that we're gonna reach the goal and ultimately save our girls and put an end to this disease."
Once they do, they plan to continue the foundation's work to raise money for other rare diseases.
In the meantime, even as Charlotte's condition worsens, she continues to inspire her parents with her caring spirit and love of life.
"She loves to play and she loves to be playful and just always has a smile on her face," says Kristen. "That is something that has held strong through all of this and I think kept Gordon and I strong."
Courtesy of a friend.


  1. By history and examination something bad was happening; the infant had lost skills and his tone had increased. When the pediatrician saw the child for an exam before a sedated MRI, he told the mother, "I don't really see anything wrong." This child had Krabbe's disease. He had one sibling, a brother a year or so older. Testing of the brother, who was asymptomatic, showed that he, too, had Krabbe's disease. Two weeks after giving the parents the devastating news regarding the infant, I sat down with the parents once again about their only other child. At the time, there was nothing to be done for the infant, since no one was then considering bone marrow transplantation on a symptomatic infant, and, in short order, he died. The brother, who is now a college student, was the first recipient of an unrelated cord blood transplant at the University of Minnesota. Another sibling was born to the family, with chorionic villus sampling done to establish that this sibling was unaffected.(See Reminiscences July 10, 2015)

  2. My patient (see prior comment): Erik was pre-symptomatic, but because Krabbe progresses so rapidly, it was felt he needed an immediate hematopoietic stem cell transplant to have any hope of saving his life. Registry searches did not turn up an acceptable bone marrow match, leaking Erik with no good options and the clock ticking. A search of the NY Blood Center's cord blood bank found a cord blood unit with match characteristics similar to the bone marrow match. Although few patients had received a cord blood transplant. Doctors felt that while not a perfect match, the cord blood match would work for Erik because the transplant-related complications were thought to be much less with cord blood than with bone marrow. The cord blood also had the advantage of being available as soon as the doctors could ready Erik for transplant.

    "Erik went through his transplant without major problems and left the University of Minnesota Hospital in a then-record 26 days. Erik now leads a normal life. As a result of Erik's success, cord blood transplants are now an accepted treatment for children with inherited metabolic diseases.

    "With no good marrow match available, an experimental cord blood transplant was Erik's only hope. Even then, his doctor, William Krivit, MD, told us that the Erik we sent to transplant would not be the same Erik we would get back after the transplant. Erik surpassed all expectations and thanks to God and cord blood, today Erik is a normal teen-ager enjoying a "normal" life."


  3. Lifelong friends, caring strangers, and compassionate community leaders have joined together in a race against time to help save the lives of two little girls, Charlotte and Gwenyth Gray, whose mother, Kristen Kaiser Gray, grew up in Naperville.

    The children were recently diagnosed with Batten disease, a rare genetic, degenerative brain disorder that will lead to disability and an early death unless a cure and treatments are found quickly...

    Crushed but determined that they would fight for their children's lives and a cure for Batten disease, they reached out to scientists and researchers across the globe. Telling those scientists, "You find the cure. We'll find the money!" they founded The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease. Facing this tragedy with courage, they brought in several teams of researchers and began an effort to raise over $10 million.

    With Gordon's highly respected reputation as a Hollywood film producer, celebrities joined the fund-raising effort, and national media carried the story. By the end of August, the not-for-profit foundation had already raised almost $2 million...

    The word of the children's plight quickly spread throughout the community. Children set up a lemonade stand near the Farmer's Market and raised funds and awareness every Saturday morning throughout the summer. NCTV 17 interviewed Casey and Kristen when Kristen and her children visited the area to attend a medical conference on Batten disease. Local media ran major front-page stories. Naperville friends who now live in Colorado climbed Grays Peak, one of Colorado's 14,000-foot mountains, on Kristen's birthday in August and raised over $24,000 in sponsorships. Rotary Clubs and other organizations opened their hearts and wallets, and Naperville business and civic leaders met with Kristen's local friends to brainstorm ways to help...

    For more information about The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease and the research efforts, visit To view a video about Charlotte and Gwenyth Gray, go to the link: