Stories about: rare disease

Focused genetic testing approach ends a 32-year diagnostic journey

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

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

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

(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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The diagnostic odyssey: Parents shed light on their experience

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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Can rare disease genes be protective?

Carriers of the rare disease Niemann-Pick C1 may be protected against Ebola.
Carriers of the rare disease Niemann-Pick C1 may be protected against Ebola.
First of several posts to commemorate (Feb 28, 2015).

Evolution is a strange thing: sometimes it favors keeping a mutation in the gene pool, even when a double dose of it is harmful—even fatal. Why? Because a single copy of that mutation is protective in certain situations.

A classic example is the sickle-cell mutation: People carrying a single copy don’t develop sickle cell disease, but they make enough sickled red blood cells to keep the malaria parasite from getting a toe-hold. (Certain other genetic disorders affecting red blood cells have a similar effect.)

Or consider cystic fibrosis. Carriers of mutations in the CFTR gene—some 1 in 25 people of European ancestry—appear to be protected from typhoid fever, cholera and possibly tuberculosis.

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Advancing clinical trials for Niemann-Pick type C: Sweet news for cyclodextrin

Febreze-Human Zoom-Creative CommonsOlaf Bodamer, MD, PhD, is associate chief of the Division of Genetics and Genomics at Boston Children’s Hospital and is launching a multidisciplinary clinic this spring for lysosomal storage diseases—including Niemann-Pick type C, sometimes referred to as “childhood Alzheimer’s.”

Niemann-Pick disease type C (NP-C) has come a long way since its first description as an entity in the 1960s. Part of a group of rare metabolic disorders known as lysosomal storage diseases, NP-C leaves children unable to break down cholesterol and other lipid molecules. These molecules accumulate in the liver, spleen and brain, causing progressive neurologic deterioration.

I still vividly remember when I diagnosed my first patient with this devastating disease, a 3-year-old boy who had global developmental delay, restricted eye movement, loss of motor coordination and loss of speech. I spent hours with the family, explaining what was known about NP-C. When faced with the question about treatability and outcome, I could barely find the right words, but had to acknowledge that the outcome was inevitably fatal and that there was no specific treatment other than supportive measures to treat his symptoms.

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Rare disease: The path less chosen

Part of a continuing series of videotaped sessions at Boston Children’s Hospital’s recent Global Pediatric Innovation Summit + Awards 2014.

Rare diseases offer a lot of opportunity for gene discovery, but getting a drug to market presents many challenges, and costs per patient are high. This 50-minute session explored this complicated landscape from multiple angles. The panelists:

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Why we need more research into childhood cancer

WilliamsDavidDSC_0056PreviewlargeDavid A. Williams, MD, is chief of hematology/oncology at Boston Children’s Hospital and associate chairman of pediatric oncology at Dana-Farber Cancer Institute. This column was first published on Huffington Post.

The fact that childhood cancer is, thankfully, rare belies the fact that it is the leading cause of disease-related death in U.S. children age 1 to 19. The number of people with a direct stake in expanding research into pediatric cancer is quite large, well beyond the small number of children with cancer and their families. Not only are the life-long contributions of children cured of cancer enormous, but understanding cancers of young children could also hold the key to understanding a broad range of adult cancers. The time is ripe to allocate more resources, public and private, to research on pediatric cancer.

In an age of increased understanding of the genetic basis of diseases, one thing is striking about many childhood cancers. They are relatively “quiet” cancers, with very few mutations of the DNA. Young children haven’t lived long enough to acquire the large number of mutations that create the background “noise” associated with years of living. This makes it much easier to pinpoint the relevant genetic abnormalities in a young child’s cancer.

Add to this the growing realization that biology, including how various tumors use common “pathways,” is a major factor in how the cancer responds to treatment. Thus, a mechanism that’s relatively easier to observe in the cancers of young children could help scientists understand cancers in adults, in whom the same mechanism is hidden amid the clutter of mutations acquired over a longer life.

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Rare disease: A difficult therapeutic path

Rare disease panelWhen a rare disease affects you or your family, it doesn’t seem rare. Add them all up, and rare diseases aren’t all that uncommon. What’s rare is for patients to receive effective treatments.

“There are 7,000 rare diseases, and under 400 approved drugs,” says Peter Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), “so there’s a huge opportunity there to try to develop more drugs.”

Saltonstall spoke today with five other panelists at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards in a session titled, “Rare diseases: Lessons from the path less chosen.” David Meeker, MD, president and CEO of Genzyme, moderated.

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