Lansing — About a million Michiganders with rare diseases could receive better treatment if legislators establish a Rare Disease Advisory Council.
A disease is called rare if it afflicts fewer than 200,000 people in the U.S. There are more than 7,000 such diseases, according to the National Organization for Rare Disorders.
About 10% of Michigan’s population could have a rare disease, said Laura Bonnell, founder and president of The Bonnell Foundation: Living with Cystic Fibrosis in Royal Oak and a Michigan state ambassador of The Rare Action Network.
Nationally, 25 million to 30 million people have these conditions, according to the National Organization for Rare Disorders.
People with rare diseases and their families encounter difficulties at every stage of treatment, Bonnell said. That includes lack of newborn screenings and effective long-term treatment.
Bonnell and others want to create a state Rare Disease Advisory Council with representation from health advocates, pharmacists, medical professionals and parents. The council would advise the Legislature and the governor, coordinate with other organizations and identify best practices for research and priorities. Such priorities include the cost-effectiveness of and access to treatments and services.
Bonnell has two daughters with cystic fibrosis, a disease that afflicts 30,000 people in the U.S., according to the Cystic Fibrosis Foundation.
When one of her daughters started to have symptoms, it was hard to convince her doctor to test her, Bonnell said.
“The studies also show that it takes on average (but usually longer) about seven years to diagnose any rare disease that is not in the newborn screening list,” Bonnell said.
“For far too long, the needs of people living with rare diseases have gone under-addressed,” Rep. Cara Clemente, D-Lincoln Park, the sponsor of the bill, said in a statement.
One of the main problems is disconnection among institutions, said Evelyn Argirokastritis, a president and the founder of Race For Immunology in Macomb County. There should be collaborative efforts of patients, insurance companies, pharmacies, doctors and government.
Argirokastritis’ organization supports people with rare blood and immune system diseases, teaches physicians to identify and research treatment and provides funding for genetic testing to patients with limited resources.
Race For Immunology created a pamphlet that explains where to get a wheelchair or other devices and where to get help to manage emotional distress, Argirokastritis said.
She hopes that creating the Rare Disease Advisory Council will help better spread information and connect organizations and people. Because of a lack of information, parents of children with rare diseases learn how to cope with difficulties in the process without proper support and information resources.
Argirokastritis’ second child was diagnosed with NEMO which stands for NF-kappa B Essential Modulator. There are only 24 cases of that disease in the U.S., according to the U.S. Immunodeficiency Network. Her son’s immune system didn’t work properly and he fought fungus, three viruses and three bacterial infections.
He needed a stem cell transplant from umbilical cord blood. The only match for her child was in France. It took 1.5 years for her child to adjust, but now he is fine.
Both Argirokastritis and Bonnell said they were told that they shouldn’t worry about their children. However, they never stopped looking for information and got the correct diagnosis.
A state advisory council could make that easier for others, they said.
“A lot of us are moms who have been given this unthinkable circumstance that we are trying to make better for the next mom and next kiddo,” said Argirokastritis.
The bill has passed the House and is awaiting action in the Senate.