Solving a 40-Year Medical Mystery

By Tara Voogel

Imagine you have a very active life as a mother and professional. Then suddenly, inexplicably, something changes. You become weak. Everyday tasks become harder to complete. Moving becomes difficult. Multiple trips to the doctor do not provide immediate answers or solutions. And to make matters even worse, your siblings display the same symptoms. This is my story.

My family’s medical journey began more than 40 years ago. Over the course of that time, my siblings and I suffered from the same symptoms. We set up appointments with our physicians and participated in several tests and studies in search of a diagnosis. The question no one could accurately answer: why is this happening?

The years passed. Our symptoms became progressively worse. My oldest sister received a diagnosis of Limb-Girdle Muscular Dystrophy, which turned out to be incorrect. In a heartbreaking turn of events, she passed away. Then in 2010, finally, I received an answer to the question that had been plaguing us
all of these years.   I was finally diagnosed with GNE myopathy, which is also commonly known as hereditary inclusion body myopathy (HIBM), distal myopathy with rimmed vacuoles (DMRV), or Nonaka myopathy.

GNE myopathy is a rare, progressive muscle disease caused by mutations in the GNE gene that affects the production of sialic acid. GNE affects the lower and upper extremities, sparing the quadriceps. People with GNE myopathy typically show muscle weakness around 20 to 30 years of age and progressively lose muscle over the course of a lifetime.

Because GNE myopathy is such a rare disease, it is not typically known or understood among the general public or even within the medical community. It is often misdiagnosed for other conditions with similar symptoms, such as Limb-Girdle Muscular Dystrophy, Charcot-Marie-Tooth disease or Miyoshi myopathy.

What began as a diagnosis set a new course of direction in my life. At 58, I’m now an advocate for speedier GNE myopathy testing and diagnosis. My focus is to educate the public about this condition through my personal blog (, social media, and through a global online community for other patients living with GNE myopathy. People need to know about this disease and understand that support is available.

Some of the most common symptoms of GNE myopathy include:
 Foot drop: this happens when the muscles in charge of flexing the ankle and toes are weakened in such a way that the person needs to drag the front of the foot and bend the knee to lift the foot higher than usual.
 Waddling gait: due to the weakness of the pelvic muscles, the person uses the torso to help move the legs, resulting in an exaggerated waddling movement of the body.
 Loss of balance
 Difficulty walking up/down stairs

If you are experiencing any of these symptoms, I urge you to talk to your doctor and ask about GNE myopathy. You can learn more at

Additionally, free genetic testing is available to help patients understand how the disease affects them. For more information, please visit

Being Your Child’s Advocate

Watching my son, Brennan, struggle to meet development milestones through the first two years of his life was possibly one of the most difficult things I’ve had to endure as a mother. When others were taking their first steps, Brennan remained seated. Though my husband and I worried, we tried to remain calm. “Everything will be fine,” doctors told us. “Every child develops at his or her own pace.” Sure
enough, even though Brennan struggled, he was barely meeting his developmental milestones, so together with our pediatrician, we ever remained vigilant of his development.
But when Brennan had still not taken his first steps at 15 months, we made the decision to take him to physical therapy. Much to our relief, he began walking just in time for his 18-month checkup. But within weeks, we observed a new cause for concern. Brennan’s arm now hung awkwardly at his side when he walked; like a bird with a broken wing. Searching for answers, our doctor encouraged us to see a neurologist who knew that something was wrong within two minutes of observation. “Your child has dystonia,” he said. “We need to do a lumbar puncture.”
My heart sank. I’d just been told that my dear boy had something I’d never even heard of before, and doctors—who couldn’t tell me what was wrong with him—needed to perform a spinal tap test that involves the extraction of some of the fluid that surrounds the brain and spinal cord.
But after initiating the process, we began to get answers. The lumbar puncture confirmed Brennan had low glucose levels, prompting our neurologist to call for a genetic test to determine if Brennan was suffering from Glut1 Deficiency Syndrome, an extremely rare condition that prevents an adequate amount of glucose from getting to the brain. Shortly after, the test results came back positive for this disease that affects only 1 in 90,000 births.
Equipped with a diagnosis, we sought expert opinions to land on a course of potential treatment for our family. That’s when we learned how lucky we really were. We learned that many patients with Glut1 DS go either undiagnosed or are misdiagnosed. Since many children with Glut1 DS have seizures, they are commonly diagnosed with epilepsy.
Today, Brennan’s symptoms are under control thanks to this prompt diagnosis.
Mothers are their child’s best advocate with instincts that tell us when to keep searching for answers. As a parent, no one knows your child better than you, which is why it’s so important to ask questions, talk to your doctors about your child’s symptoms and explore available genetic testing options.
If you are concerned about your child talk to your doctor and ask if genetic testing for Glut1 DS is

appropriate for you. For more information please visit

Q: What is lupus, and how do I know if I have it?

Published Sep 25, 2015

A: Lupus is an autoimmune disease in which antibodies attack healthy tissue and cause inflammation of the skin, joints, or organs. The Lupus Foundation of America estimates that 1.5 million people in this country have the condition, and 16,000 new cases are reported each year. While men can have the disease, 90 percent of cases are women.

Every case of lupus is different, but one telltale sign of the disease is a butterfly-shaped facial rash that spreads across the cheeks. Other symptoms may include fever, joint pain, fatigue, headaches, and shortness of breath.

Lupus can affect the nervous system – a complication known as neuropsychiatric systemic lupus erythematosus, or NPSLE. According to the Lupus Foundation of America, 90 percent of people with lupus experience the effects of NPSLE; and a new study published in the journal Lupus found that about a quarter of patients with NPSLE have suicidal thoughts.

Anca Askanase, MD, a rheumatologist and clinical director of Columbia University Medical Center’s Lupus Center, points out that symptom severity can range from annoying to crippling. The condition can surface as a one-time episode, come and go with periodic flares, or present chronic symptoms.

“How long it takes to diagnose depends on the initial manifestations of lupus,” Dr. Askanase says. “If someone has kidney swelling or fluid in the lungs or brain involvement, the lupus can be obvious.” However, lupus can be misdiagnosed because its symptoms often resemble other conditions.

“If a person is having more joint pain and fatigue, they might be labeled as having rheumatoid arthritis or chronic fatigue syndrome at first,” Askanase says. “If you’re short of breath, people think you have asthma. If you have a rash, they think you’re allergic to something.”

RELATED: If You Felt Like She Does On Good Days, You’d Call In Sick

So what causes lupus? While genetics likely play a role, research suggests that the condition could be triggered by environmental factors such as exposure to sunlight, infection, stress, or a reaction to certain medications.

There is no single test for lupus. The American College of Rheumatology has identified several criteria for diagnosis, including the presence of antinuclear antibodies (ANA) in the blood, skin rashes or mouth ulcers, heart or lung inflammation, arthritis, and neurologic problems.

Lupus is not curable. Depending on symptoms and severity, patients may be prescribed anti-inflammatory drugs, immune suppressants, or a combination of medications.

“It’s a complicated disease, and it’s not easy for people to grasp it,” Askanase says.

The Lupus Foundation of America provides information for patients and caregivers, a guide to local chapters, and other resources on its website.

Do you have a health-related question for Dr. Gupta? You can submit it here. For more health news and advice, visit Health Matters With Dr. Sanjay Gupta.

MIOT International does it again!

While 2000 children across the world have been diagnosed with cystinosis, only 18 have been identified in India. The first line of treatment is to put the child on Cystagon, a drug manufactured in Europe. This helps to manage the disease for a while, but invariably renal complications set in and dialysis becomes the next course of action, leading eventually to renal (kidney) transplantation.

Cystinosis Treatment India

What is Cystinosis?

Cystinosis is a rare genetic, metabolic disorder caused by the accumulation of amino acid cystine in the lysosome of body cells which results in cell death. This accumulation can take place in any organ of the human body, but the kidney and the eyes are the generally the most affected. Build-up of amino acid cystine in the kidneys causes tubular defects with loss of many nutrients in the urine, and this leads to growth retardation and eventually, kidney damage. When amino acid cystine is deposited in the eyes, it causes photo-sensitivity and results in blindness. Most symptoms start to develop between 6 and 12 months of age and affect the liver, spleen, lymph nodes, thyroid, intestines, muscle, brain, bone marrow and other parts of the body

Cystinosis manifests as:

  • Fanconi syndrome
  • Dehydration and excessive thirst / urination
  • Renal (kidney) impairment
  • Sensitivity to light
  • Muscle wasting
  • Failure to thrive / slowed growth
  • Stomach / gastrointestinal problems
  • Rickets

When Hariharan came to MIOT

Three years ago, 12-year old Hariharan was brought to MIOT International. He suffered from poor vision, and upon testing, our ophthalmologist found crystal formations in his eyes. The diagnosis was Cystinosis which is a genetic disorder caused by accumulation of amino acid cystine in the body cells.

After Hariharan was diagnosed in 2012, he was put on Cystagon but as his health deteriorated, he was brought back to MIOT International in June 2014. He weighed only 12 kg and was in a very emaciated condition.

Hariharan was started on hemodialysis on a tri-weekly basis, which is very challenging in such a weak and small patient. With a special dialyzer and tubing, the young boy slowly improved and gained 3 kg in weight. However, kidney transplant was the only real option.

MIOT swung into action with the help of donations and aid from the Cystinosis Foundation (India). Hariharan’s father, whose blood matched his son’s, donated one kidney and the boy underwent kidney transplant on 26 May this year. It was a very difficult operation – an adult-sized kidney had to be placed in a small child. Fortunately, the expertise of the surgical team, led by Dr. Paari Vijayaraghavan and Dr. Shanmuga Sundaram, saved the day and the transplantation was successfully carried out with the paediatric anaesthetic team also playing a key role.

MIOT International is happy to report that young Hariharan has recovered well with normal kidney functions today. He comes for follow-up treatment as outpatient. It is important to mention here that this is the second time in India that a child with cystinosis has undergone successful kidney transplantation. Both surgeries were performed at MIOT International.

In 2010, it was at MIOT International that such a kidney transplant was performed on a child with cystinosis for the first time in India.  The young patient, Master Sanjay, now 12 years old, is growing well and following up with normal kidney functions. As a result of his kidney transplantation, Sanjay has, over the past five years, gained 17 kg and increased 33 cm in height.

Raising awareness of Krabbe disease

Krabbe disease is an often fatal degenerative disease that destroys the protective coating on nerve cells in the brain and the nervous system. This rare disease has effected several families locally including that of Madison Layton who passed away after battling the disease from birth to her second birthday. It is in Madison’s memory that the second week in September will be designated as Krabbe Disease Awareness week.

Krabbe disease comes from receiving two copies, one from each parent, of the mutated gene. The disease often shows in infants but has been known to be delayed and show up later in life. Symptoms include progressive loss of developmental abilities, progressive loss of thinking skills and muscle weakness. Treatments such as stem-cell transplants have shown promise but there is still more work to be done in order to provide care for individuals with this disease.

Krabbe is scientifically known as globoid cell leukodystrophy and is related to many leukodystrophys such as ALS. Krabbe results when cells in the brain start to break down because some of the processes and components in certain cells are not working properly. More commonly doctors see similar break down of brain cells in Alzheimer’s and Parkinson’s. However, these diseases are very different from Krabbe.

Affecting 1 in 100k raising awareness about this rare disease is important in order to encourage continued research to help the patients being impacted by this disease. In Ohio, the legislature and Governor have recognized the need for awareness.

Krabbe disease awareness week is not effective as law until next year but the mission of raising awareness starts now. We must bring attention to this disease so more effort can be put into screening, treatments and potentially finding a cure.

Please give me your opinion on this topic and others in the news this month by completing an online survey at

The writer represents the 84th District in the Ohio House of Representatives.

The House must pass this critical bill before October 5th in order for it to become law before IACT expires.

The Cystic Fibrosis Foundation
Dear Friend,

We need your help! The Improving Access to Clinical Trials Act (IACT) will expire on October 5th. This important law allows those with rare diseases, like cystic fibrosis, to participate in clinical trials without fear of losing vital benefits through Supplemental Security Income and Medicaid.

Ask your House member to pass this important legislation before it’s too late!

The Senate has passed the Ensuring Access to Clinical Trials Act of 2015, to remove the expiration date from IACT, but we’re not done yet! The House must pass this critical bill before October 5th in order for it to become law before IACT expires.

Thanks to the support of advocates like you, we have made remarkable progress in the fight against this disease. With more research underway than ever before, it is critical that all people with CF have the ability to participate in clinical trials without fear of losing their benefits.

Thank you for all you do! Together, we will keep adding tomorrows for people with cystic fibrosis.


Cystic Fibrosis Foundation


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Cystic Fibrosis Foundation
6931 Arlington Road
Bethesda, MD 20814

Documentary Tip: ‘Butterfly Girl’ – The Story of Abbie Evans

The documentary ‘Butterfly Girl’ (2014) tells the story of Abigail Evans, a 18 year old from Texas with a rare skin disorder, epidermolysis bullosa. Abbie spends her life having to be cautious and having to endure painful medical procedures. She works at her father’s honky tonk concerts selling concert t-shirts. She might be struggling, yet she remains strong and seeks more. Abbie makes the most out of her life, and explores her world – photographing California cliffs, eating out in a diner, having a great time at bars in Austin where her father plays – with an inspiring passion and enthusiasm. The documentary portrays the mixed emotions of desire for more as well as fears, fears also from Abbie’s parents, who want to protect her, but also let her live free.

Epidermolysis bullosa “is a very rare and painful genetic connective tissue disorder that affects 1 child out of every 20,000 live births in the United States (that means about 200 children a year are born with EB). Because their skin is so fragile, they are often known as ‘Butterfly Children.’ EB afflicts both genders and all racial and ethnic backgrounds equally. EB is actually a group of disorders that share a prominent manifestation of extremely fragile skin that blisters and tears from friction or trauma. Internal organs and bodily systems can also be seriously affected by EB. The list of secondary complications can be long and may require multiple interventions from a range of medical specialists. More severe forms of EB result in disfigurement, disability, and early death, usually before the age of 30. In fact, some forms of EB are lethal in the first few months of life. As of today, there is no cure or treatment. Daily wound care, pain management, and protective bandaging are the only options available.” Source:

Check out the documentary’s site: