Stories about: Orphan diseases

An online portal for undiagnosed patients

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(Mopic/Shutterstock)
(Mopic/Shutterstock)

Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.

Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.) …

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Focused genetic testing approach ends a 32-year diagnostic journey

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Claritas-JackieSmith3-croppedSome 7,500 rare disorders are known to be caused by single-gene mutations. Most of these disorders first appear at birth or in childhood, and for about half, the responsible gene has been identified. Yet, on average, families with rare disorders spend 12 years searching before getting a correct diagnosis.

Jackie Smith, a 35-year-old mother of two, searched for 32 years for the cause of her muscular weakness. Her parents knew something was wrong soon after she was born. At first, because her ankles turned in, they thought she was bow-legged. …

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Undiagnosed families hold on as genome competitors look for explanations

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undiagnosed patients await answersThe CLARITY Undiagnosed Challenge is heating up. Biomedical teams from seven countries are racing to interpret DNA sequences from five families affected with undiagnosed illnesses—some with gravely ill children, some already bereaved, all desperate for answers.

In July, the 26 competing teams received whole-genome and whole-exome sequence data from each patient and close family members, along with clinical notes and patient videos. Their reports, due September 21, will be judged by an independent panel based on:

  • the methods used to analyze and interpret the sequence data
  • the ability to synthesize the information
  • clinical usefulness, care recommendations and “next steps.”

…

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Hillary Savoie: Parents as citizen scientists

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hillary-and-esme
The author with 3-year-old Esmé at their home in New York. (Tracey Buyce Photography)

In my last post I explained the genetic testing process that led to my daughter Esmé receiving results of two mutations of unknown significance. One, on the gene PCDH19, was discovered in 2012 with the GeneDx infantile epilepsy panel. The other, on SCN8A, was found with whole exome sequencing, also through GeneDx, in 2014.

When we received the SCN8A result, I was fascinated by the notion that it would have been included in our original epilepsy panel had we only waited a handful of months. In fact, in the time since Esmé’s original test in 2012, almost 20 new genes have been added to the GeneDx Infantile Epilepsy panel. …

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So far, so good for gene therapy patient Emir Seyrek

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Emir Seyrek gene therapy Wiskott-Aldrich ThrivingRemember Emir Seyrek, the Turkish boy who last year was the first patient in gene therapy trial for a genetic immunodeficiency called Wiskott-Aldrich Syndrome? Emir traveled back to the U.S. earlier this month for an annual follow-up visit with his care team at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. The news was quite good.

“Emir is the star of the trial,” Sung-Yun Pai, MD—a Dana-Farber/Boston Children’s gene therapy and immunodeficiency transplant specialist and lead (along with David Williams, MD, and Luigi Notarangelo, MD) of the U.S. arm of the trial—tells our sister blog, Thriving. “He has the highest platelet count of all of the children who have gone through gene therapy with this vector so far. His immune function is excellent, and we have no worries whatsoever from a bleeding standpoint. He’s perfectly safe to play like a normal child.”

Learn more about Emir’s progress on Thriving.

 

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When your child isn’t just rare, but probably one of a kind

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Savoie at home with 4-year-old Esmé in New York.
Savoie at home with 4-year-old Esmé in New York.

Hillary Savoie, PhD, founder and director of The Cute Syndrome Foundation, is author of Around And Into The Unknown, chronicling her family’s journey to find a diagnosis for Esmé, and Whoosh, about coming to terms with Esmé’s early medical complications.

I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.

But my daughter is also unusual in a more scientific way: in her genes.  …

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Power to the people: Citizen science meets precision medicine for rare disease

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At this recent GoldLab Symposium presentation in Colorado, parent Matt Might shows how it’s done.

People credit rapid next-generation gene sequencing for the increased pace of medical discovery. But patients and their families—especially those with rare or undiagnosed conditions—are emerging as the true engines of precision medicine. Racing against the clock to save their children, parents are building databanks, connecting scientific dots and fueling therapeutic advances that could otherwise take a decade or more to happen.

“There’s a culture shift,” said Isaac Kohane, MD, PhD, chair of Harvard Medical School’s Department of Biomedical Informatics (DBMI), which hosted a conference titled Precision Medicine 2015: Patient Driven in late June. “A culture shift where patients feel empowered morally and intellectually to lead in precision medicine research and delivery.” …

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Clinical drug trial seeks to avoid liver transplant for LAL deficiency

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(Image courtesy Ed Neilan)

neilan_edward_dsc9139Second in a two-part series on metabolic liver disease. Read part 1.

According to the American Liver Foundation, about 1 in 10 Americans have some form of liver disease. One rare, under-recognized disorder, lysosomal acid lipase (LAL) deficiency, can fly under the radar until it becomes life-threatening, often requiring a liver transplant. LAL deficiency currently has no specific treatment, but that may change thanks to combined expertise in genetics, metabolism and hepatology.

In recent years, Boston Children’s Hospital’s Director of Hepatology, Maureen Jonas, MD, and the Metabolism Program’s Edward Neilan, MD, PhD, diagnosed three children with LAL deficiency. All three are now enrolled in the first international LAL deficiency clinical trial, with Neilan serving as Boston Children’s principal investigator.

“LAL deficiency is currently under-diagnosed,” Neilan says. “We think the disease is more common than doctors have thought and now, with a treatment in trial, it is of greater importance to identify those patients so they may have better outcomes.” …

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Transplant surgeon seeks to avoid transplants

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First in a two-part series on metabolic liver disease. Read part 2.

Khashayar Vakili, MDIn the clinical world, Boston Children’s Hospital surgeon Khashayar Vakili, MD, specializes in liver, kidney and intestinal transplant surgeries, while in the lab he is doing work which, for some patients, could eliminate the need for a transplant surgeon altogether.

Vakili has been working at Boston Children’s for six years. During his transplant surgery fellowship, he spent several months learning about pediatric liver transplantation from Heung Bae Kim, MD, director of the Boston Children’s Pediatric Transplant Center, which prompted his interest in the field.

“When the opportunity to join the transplant team presented itself, I did not hesitate to accept,” he says. …

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The diagnostic odyssey: Parents shed light on their experience

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the diagnostic journey
Robert Salmon: Storm at sea (Wikimedia Commons)

Nikkola Carmichael, MS, CGC, is a parent and a genetic counselor in the adult genetics clinic at Brigham and Women’s Hospital. Her research was conducted as part of her master’s degree in genetic counseling in conjunction with colleagues at Boston Children’s Hospital.

When a parent or provider first becomes concerned about a child’s development, a diagnostic odyssey begins. It may be brief or can stretch for years as a child undergoes multiple procedures and medical appointments in the search for a diagnosis.

This is a challenging time for families. While learning to address their child’s health needs and fearing for the future, parents may have difficulty accessing support services due to the lack of a diagnosis. Against this backdrop of emotional turmoil, parents strive to support their child through medical procedures that can be painful or frightening. …

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