Family rallies around 1-year-old boy with rare, incurable disease

January 26, 2012

Family rallies around 1-year-old boy with rare, incurable disease

Contra Costa Times | January 23, 2012 | By Theresa Harrington

When Danielle Terborg learned her 3-month-old son, Logan, had a rare illness called SMARD — spinal muscular atrophy with respiratory distress — she was faced with a difficult decision.

Doctors told her she could give him “comfort care” or hook him up to breathing and feeding tubes for the rest of his life, with the knowledge that he may not live until his second birthday.

“It was our family’s belief that it was best to do everything we can and give him the best life possible,” said Terborg, who brought Logan home from Children’s Hospital Oakland in September.

Before that, she and other family members spent hours by Logan’s side, playing with the blue-eyed, dimple-cheeked boy whose smile fills the room, even if he has a ventilator tube that keeps him alive. His grandmother, Peggy Thomas, and his mother alternate caring for him, along with in-home nurses. In the meantime, they have also researched his disease, finding one boy with it has lived to age 20.

Dr. Gregory Cox, a researcher at the Jackson Laboratory in Bar Harbor, Maine, is one of the few scientists in the world studying the disease and trying to find a cure.

It is so rare, he said, that statistics about how many children have it are not available, especially since so many victims die very young.

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NIH Undiagnosed Diseases Program documents two-year pilot as clinic of last resort

October 10, 2011

NIH Undiagnosed Diseases Program documents two-year pilot as clinic of last resort | October 6, 2011

Genomic tools prove integral to solving medical mysteries

After its first two years of work, the Undiagnosed Diseases Program (UDP) of the National Institutes of Health is citing successes in patients whose cases have stumped specialists at leading medical institutions around the country. The researchers published the program’s first retrospective analysis in the Sept. 26, 2011 early online issue of Genetics in Medicine.

The successes include the diagnoses of siblings whose calcium-riddled blood vessels made it excruciatingly painful to walk, a woman with life-threatening protein deposits in her muscles and a 20-year-old whose diagnosis makes him the oldest survivor of his previously undiagnosed muscle and lung disorder.

“The UDP responds to a critical unmet need, with compassion, clinical expertise and state of the art genomic technologies,”” said Daniel Kastner, M.D., Ph.D. , scientific director at the National Human Genome Research Institute (NHGRI). “A patient who cannot be diagnosed may cycle through the medical system with no satisfactory treatment plan or be abandoned by the medical system. Through the UDP, NIH provides a glimmer of hope to patients and their families, while at the same time gaining remarkable medical insights.”

The UDP is supported by the NIH Office of the Director, NHGRI, the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center.

The report focuses on 160 patients of the total 326 cases accepted into the program. More than half of the accepted patients had undiagnosed neurological problems. Other prominent disorder categories include gastrointestinal disease; fibromyalgia and chronic fatigue syndrome; immune-mediated and rheumatic illnesses; psychiatric conditions; pain; dermatologic disorders; and cardiovascular disease.

So far, most of the solved cases — 37 of 39 cases for which the UDP team arrived at a diagnosis — involved diseases previously encountered in the world of medicine, according to UDP authors. In general, about 500 diseases are common enough to be in any physician’s repertoire for diagnosis, while another 6,500 are known but are exceptionally rare, according to ORDR data.

UDP researchers reviewed, evaluated and diagnosed 23 patients with rare diseases, of which 15 cases reflect extremely rare diseases affecting fewer than 10,000 people. The authors note that while these are known disorders, some lack diagnostic tests or medical definitions to describe them. Rare diseases are defined as those affecting fewer than 200,000 people in the United States.

The program has also delved into the realm of unknown maladies. In February, the UDP announced the program’s first discovery of a new disease, called ACDC, or arterial calcification due to deficiency of CD73, in the New England Journal of Medicine. CD73 is a protein that produces a small molecule, adenosine, which protects arteries from calcifying. A report on one additional new disorder is pending publication.

The siblings whose cases led to discovery of ACDC continue to experience pain while walking more than a short distance. The NIH researchers, however, have obtained approval to start a drug treatment protocol that could improve their condition, which will be initiated within months.

The patient who UDP researchers encountered with an unexplained muscle condition was diagnosed with a rare form of amyloidosis, a condition in which bone marrow produces excess immunoglobulin proteins, which had accumulated in the patient’s muscle tissue. The NIH team referred the patient for a stem-cell, bone marrow transplant, using healthy donor stem cells. The patient has subsequently experienced progressive improvement in her condition.

The UDP team also succeeded in diagnosing the 20-year-old patient with a condition called spinal muscular atrophy with respiratory distress. The condition causes damage to muscles, including respiratory muscles. The patient remains dependent on a respirator for much of his day but last year achieved the significant personal milestone of high school graduation. The diagnosis has allayed the patient’s concern that the condition might at any point impair his learning.

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ETX boy raises money for SMARD research

September 27, 2011

ETX boy raises money for SMARD research

KLTV | September 23, 2011 | By Lauren Callahan

WHITE OAK, TX (KLTV) – An East Texas boy has had Spinal Muscular Atrophy Respiratory Distress, or “SMARD”, since he was three months old.

And until recently, no one was researching the disease.

Now that a laboratory in Maine is devoted to learning more about “SMARD,” three-year-old Dakin Lovelace wants to help.

Dakin Lovelace was a healthy baby, according to his mom Devon. But when he was three-months-old, he stopped breathing. After many doctor’s visits, he was diagnosed with SMARD

“And so as a result of that Dakin can’t breathe on his own, he can’t walk. He can’t sit up on his own. Um, we are very fortunate, though, that he’s so strong. We’re very, very lucky, and he’s happy. His brain is not affected at all. He’s smart as a whip and he’s a happy boy,” says Devon.

His parents resigned themselves to the fact that Dakin would always be in a wheelchair and using a ventilator. Until they learned this summer about the Jackson Laboratory in Maine, where a researcher is starting to study SMARD.

“We lived pretty much three years having no hope whatsoever that anything anybody was doing was going to help Dakin,” Devon expressed.

There are about 60 known cases of SMARD worldwide.

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Boy Raises Money Mountain by Mountain

August 10, 2011

Boy Raises Money Mountain by Mountain | August 10, 2011 | By Emerson Whitney

BAR HARBOR — Ten-year-old Gus La Casse pumps two raised fists above his head in a heavyweight-champ, Rocky-type of gesture, demonstrating how he felt at the summit of Katahdin last week.

Gus climbed Katahdin as the finale in his series of 26 summit climbs in one month, which he organized as a fund-raiser for research into a rare, life-threatening motor neuron degenerative disorder that affects infants and children, called spinal muscular atrophy with respiratory distress (SMARD).

Gus was introduced to SMARD through Silas Werner, a 17-month-old from Pittsburg, Penn., who was diagnosed with the disease at 3 months old and whose mother began seeking answers from the Jackson Laboratory where Dr. Greg Cox is one of few genetic scientists in the world, committed to studying the disease.

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Climbing for Silas: Fundraisers to help 16-month-old boy with genetic disease

June 20, 2011

Climbing for Silas: Fundraisers to help 16-month-old boy with genetic disease

Pittsburgh Post-Gazette | June 20, 2011 | By Pohia Smith

Fewer than 1,000 infants and children are believed to be living in the United States with a life-threatening genetic neuromuscular disorder called SMARD, or spinal muscular atrophy with respiratory distress.

One of them is 16-month-old Silas Werner of Friendship, the son of John and Lisa Werner, who both are recessive carriers of the SMARD gene. His sister Valentia apparently died of the disease a year before his birth, although the cause was initially given as sudden infant death syndrome, or SIDS.

With SMARD, the patient has extreme respiratory distress because his diaphragm becomes paralyzed. He also has progressive severe body weakness, predominantly in the lower limbs. Silas’ disease now has progressed to most of his body, excluding his face and internal organs.

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Donated van to help family

May 31, 2011

Donated van to help family

Beloit Daily News | May 27, 2011 | By Rob Baxter

Listen closely and you’ll hear Keyonah (pronounced Key-on-uh) Spencer, 4, utter the words “Ace” and “Goodwill.” Her mom, Jenni Spencer, says those are her two favorite stores to go to in Beloit.

For many families, a trip to Ace to get flowering plants or a new tool or a rummage sale type, treasure hunt at Goodwill takes only minutes. For Keyonah, it’s a bit more daunting.

Keyonah was diagnosed with Spinal Muscular Atrophy with respiratory distress when she was 3 months old.. At 9 months, she was placed on a ventilator to save her life. Due to the degenerative nature of the disease, Keyonah is confined to a wheelchair and unable to hold her head up without support. Her muscles are so weak she cannot breath on her own.

“She is getting really big for my car and getting her in and out of there has become very difficult,” Jenni said. “This vehicle will allow us to do that. I don’t know if we would be able to go anywhere otherwise.”

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Family raising funds to help Maddison’s rare condition

March 21, 2011

Family raising funds to help Maddison’s rare condition

this is nottingham | March 21, 2011 | By Dominic Howell

A MOTHER from East Leake is planning a birthday fun day to raise money for her daughter who is defying all medical expectations.

When doctors diagnosed Maddison Sherwood with a very rare muscular disease, which attacks her ability to breathe, they said she would never sit up unaided – but she has.

They said she would never be able to breathe for more than a minute without the aid of a ventilator – but she’s now managed 30 minutes without its help.

“Doctors just can’t work it out,” said mum Lidia Sherwood, of St Mary’s Crescent.

“She’s doing so well and I’m so proud.”

Maddison was diagnosed with spinal muscular atrophy with respiratory distress (SMARD) when she was born and spent the first 11 months of her life in the Queen’s Medical Centre.

There have only been two other recorded cases of SMARD in England and just 60 worldwide.

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