Rare Diseases Could Be Diagnosed Earlier with Better Training for GPs to Avoid Years of Misdiagnosis

Although each disease on its own may be rare, a huge number of people are living with a rare disease– and half of these people are children. About 30 percent of these children will die before the age of five.

Genetic testing has identified many rare diseases in recent years but there are still treatments for only about five percent of these conditions, according to the website “From Hope to Cures” sponsored by PhRMA.

The National Institute of Health estimates that 30 million Americans suffer from rare diseases. In comparison, there are about two million Australians with rare diseases. On average, it takes about five years for people with a rare disease to be diagnosed correctly.

Parents Searching for a Cure for their Son’s Rare Genetic Disease, Leukodystrophy

An article in Australian Story describes how Massimo Damian began life as a normal, happy, healthy baby. It was not until his first birthday that his parents noticed unusual symptoms. An MRI showed that his brain was showing signs of deterioration. A neurologist told his parents, Sally and Stephen, that their child had a degenerative genetic condition called leukodystrophy. This rare disease disrupts the brain’s ability to transmit signals to the body.

The doctors explained to Sally and Stephen that they were unable to identify the specific type of leukodystrophy and were therefore unable to treat it. He described a grim picture and short life span to the shocked and grieving parents.

Stephen had no background in chemistry or medicine yet he was determined to help his son.  As a result of his father’s efforts and the process of discovery, Massimo became the first child in the world to be diagnosed by a new technique called “trio family whole genome sequencing”. This technique is now used worldwide.

Sally and Stephen had no scientific training but led teams of cutting-edge gene therapy and stem cell researchers in Melbourne, Brisbane, and Sydney labs to help their son. He was initially dismissed as an amateur scientist but his idea of cross-referencing Massimo’s genome with his and Sally’s shocked the medical world when it brought about a diagnosis.

Massimo’s disease is called hypomyelination with Brain Stem Involvements, Spinal Cord Involvement and Leg Spasticity (HBSL). For a while it looked like a treatment and possibly a cure would be found but little Massimo passed away December 2017 at the age of 9.

Since then, 30 children around the world have been diagnosed with the disease. Massimo’s parents continue to work with neurologists to honor the memory of their little boy. Additional information about leukodystrophy is available here.

Patient with Hurler Syndrome: A Cord Transplant Saved Her Life

Tabitha was diagnosed with Hurler Syndrome (mucopolysaccharidosis or MPS1) when she was two years old.  Although she was nine months old when doctors first noticed that she was not growing normally, the disease was not discovered until one year later when she was being treated for fluid on the brain (hydrocephalus).

Tabitha is now 17, but her mother explained that at the time many doctors felt there was no point in attempting to treat “those children.” Fortunately, Tabitha’s doctor did not agree and performed a cord transplant that saved her life.

She has survived schoolyard bullying brought on by being “different’ because of her short stature, eye problems, soft bones and larger head. Yet Tabitha has managed to have a somewhat normal life. She enjoys music, dancing and although she has had cornea transplants in both eyes, she is an avid photographer.

Hurler syndrome affects approximately one in 88,000 people. Many who are born with this disease do not reach their tenth birthday. Additional information about Hurler syndrome is available here.

A Story of Pompe Disease

Samantha Lenik of Canberra, Australia, could not understand why for the past seven years she would fall while she was out running, or why she never felt energized when she exercised every day at the gym.

For years she complained of pains in her legs and back. None of the doctors who examined her were able to identify the cause of her problems. One doctor told her she had the muscle tone of a woman about 60 years old.

Samantha eventually found out that she had Pompe disease. It’s an inherited disorder caused by glycogen buildup in the cells of the body. This accumulation disrupts various organs, tissues and muscles preventing them from functioning normally. It can also lead to respiratory failure.

Samantha is now receiving treatment for the disease through a clinical trial. Additional information about Pompe disease may be found here.

Orphan Drugs for Orphan Diseases

A rare disease is defined as a condition that affects fewer than 200,000 people. The Orphan Drug Act was created in the U.S. in order to attract pharmaceutical companies to invest in and develop drugs to treat rare diseases (orphan diseases).

Until the Act was passed in 1983, there was no incentive for drug companies to invest in conditions that would affect so few people. The FDA has approved over 500 orphan drugs since that time.

It’s Difficult for GPs to Diagnose Rare Diseases

Geneticist Jack Goldblatt explains that it is difficult for general practitioners to recognize symptoms of rare diseases as the symptoms are complex and some doctors rarely, if ever, see these patients. On the other hand, many rare diseases may have common symptoms and therefore can be easily misdiagnosed.

Professor Goldblatt said the key to preventing irreversible damage and possibly death is to be found in early diagnosis. He believes that genetic testing and screening of newborn babies will provide part of the solution.

He hopes that the medical community will raise awareness about these diseases so more GPs will be able to refer their patients to specialists.


 

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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