FD Day 2016: Everything you need to know

At FD Day 2016, patients and family members came together for a 1-day intensive conference in New York City. The conference was designed to give families practical up-to-date advice on caring for someone with FD. The speakers came from a variety of backgrounds including medicine, research, rehabilitation, and drug development to share their expertise and knowledge throughout the day.

Preventing aspiration and reducing sedative medications was one of the biggest themes of the day.

FD Day 2016. Photo by Steve Meyer.
FD Day 2016. Photo by Steve Meyer.

Dysautonomia Foundation

Mr. David Brenner, Executive Director of the Foundation, opened the Conference thanking the families that came together to raise much-needed funds for research and clinical care. He introduced Mr. Paul Schack, who joined the Foundation as the new Director of Operations and Program Services. President of the Foundation, Dr. Faye Ginsburg presented Mr. Brenner with a commissioned comic strip from artist Mindy Indy thanking him for his 10-years of service to the FD Community.

Scientific sessions

Dr. Horacio Kaufmann opened the scientific sessions describing the “new era” of medicine in FD. He emphasized how exciting advances in understanding FD are being used to find better treatments.

It is time to act

FD Day 2016. Photo by Steve Meyer.
Dr. Horacio Kaufmann, Director of the Center, lead a call to action on FD Day 2016. Based on advances in recent years, our approach to treating FD has shifted. We need to make sure patients are aware that there are now safer treatment options.  [Photo by Steve Meyer].

The FD Community faces an urgent call to action. The latest figures show that 8 people with FD died in the last year. Some of these deaths, Dr. Kaufmann believes, could have been preventable. 

Patients with FD are very vulnerable to choking, partly because the control of swallowing is not normal. Instead of food, liquid or saliva entering the stomach, they are frequently misdirected and aspirated into the lung, blocking gas exchange. In the general population, the biggest risk for aspiration is swallowing difficulties – something that affects almost every patient with FD, to varying degrees.

Choking on food is an all to familiar story in FD. Confronted with the evidence that 75% of patients with FD eat by mouth and 72% cough when eating, Dr. Kaufmann emphasized that we need to be more proactive in preventing aspiration. “Acutely, aspiration can result in fatal choking episodes” he explained. “Overtime, a lifetime of chronic aspiration ultimately destroys the lungs.”

Dr. Kaufmann commissioned a special expert panel to discuss practical advice for preventing aspiration into the airway for families to attend in the afternoon.


The truth about benzodiazepines

The second risk for aspiration is being less alert due to medications. More than 84% of patients have a prescription for sedative medications (like valium or clonazepam) and 34% of patients use them chronically for anxiety and insomnia. Many patients with FD were first prescribed sedatives as children to cause relaxation and calm the central nervous system.

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“The price patients pay for using benzodiazepines chronically is too high, we need to insist on alternatives and start tapering down doses”

“It’s an extraordinary high rate of use, and we have been telling families that we are very concerned about the overuse of these drugs for a number of years” said Dr. Kaufmann. We are not the only ones. New York State now tracks benzodiazepine prescriptions and has issued new guidelines, debunking the myth that these drugs are a first line treatment of anxiety and insomnia (read here). “They may work in an acute situation, but their long term effectiveness in FD is debatable,” explained Dr. Kaufmann. “The side effects are catastrophic, they worsen swallowing, have major effects on cognition, and can dangerously depress breathing.” Benzodiazepines are addictive. “The price patient’s pay is too high, we need to insist on alternatives and start tapering down doses.”

Pauses in breathing during sleep

Sleep disordered breathing is one of the most common problems facing patients with FD today. Over 90% of children and adults with FD have pauses in breathing during sleep, yet only 40% use non-invasive ventilation. “This is a statistic we must change,” urged Dr. Kaufmann. Untreated sleep disordered breathing can be fatal, especially in patients that are using benzodiazepines. Dr. Kaufmann spoke about the importance of using CPAP or BiPAP to keep the airways from collapsing at night. “Patients must know that breathing pauses while sleeping are part of FD. It is a dangerous, but treatable condition.”

The message heard by all in the audience was clear. We must work together to prevent aspiration. We must reduce the use of CNS depressants. We must get more patients to sleep with CPAP or BiPAP.

Sleeping safe and soundly

Dr. Alberto Palma spoke next and continued on the topic of sleep. Since joining the Center, he has been focused on ways to prevent patients with FD from dying unexpectedly during sleep. He described the results of a new study, which looked back at the cases of patients with FD that died unexpectedly while sleeping and tracked their medication use and breathing control at night.


Those who were taking high doses of fludrocortisone and those that were not using CPAP or BiPAP were at higher risk for sleep death. “This is an important discovery,” emphasized Dr. Palma “it means that we have to continue to move away from using high doses of fludrocortisone”. He echoed Dr. Kaufmann, urging more patients to sleep with CPAP or BiPAP. “Patients must get used to sleeping with a mask at night. It might be difficult at first, but this is worth fighting for”.

CPAP or BiPAP can ensure you breathe in and out the right proportion of oxygen and carbon dioxide at night. When the balance of oxygen and carbon dioxide in blood go array, this is a deadly scenario for the heart. “We think that sleeping with a machine that supports breathing will help prevent fatal cardiac arrhythmias and would save lives,” added Dr. Palma.

Finding better treatments

pill-300x199The science session moved to discuss the transformations in medical care.

Next to speak was Dr. Lucy Norcliffe-Kaufmann. She explained the recent grant to the Center and the commitment of the US Food and Drug Administration’s Office of Orphan Product Development to find alternatives to sedative medications for the treatment of FD.

High blood pressure can damage organs like the kidney and heart, and big swings in blood pressure are an added risk. Carbidopa is a drug that works by blocking the production of neurotransmitters that raise blood pressure in patients with FD. The FDA recently partnered with the Center to fund a new clinical trial to test whether carbidopa can lessen swings in blood pressure in FD. She went on to debunk some of the commons myth about carbidopa in patients with FD.

FD Day 2016. Photo by Steve Meyer.
Dr. Norcliffe-Kaufmann, lead researcher at the Center, who has spent the last 9-years trying to find better treatments for FD [Photo by Steve Meyer].
Carbidopa has been used by patients with FD for the last 6-years. “It has an excellent safety profile that has been thoroughly tested already in a controlled clinical trial.” The brain is protected by a special layer (known as the blood brain barrier), carbidopa was designed not to cross the blood brain barrier, as not to affect the brain. This would make it an ideal treatment for FD. It appears to be a smart way to prevent high blood pressure and should be hugely beneficial for patients as it has far fewer side effects.

 Carbidopa was designed not to cross the blood brain barrier, as not to affect the brain.

Dr. Norcliffe-Kaufmann explained, “We have growing concerns about the use of sedative medications in patients with FD. On a positive note, in our last clinical trial we were able to show that carbidopa reduced the need to use sedative drugs. In the clinic, we see that patients who start taking carbidopa are successfully able to reduce their use of sedative medications”. She encouraged patients to read about the ongoing clinical trial and consider enrolling (full details here).


Hidden tears

0dd1c300e91bca11e34bb92852afb791The Dysautonomia Foundation supports Dr. Carlos Mendoza  through its grants award program. The Center runs a fully equipped eye lab, where one of the main goals is to prevent progressive blindness in FD. Nearly 90% of patients with FD have visual acuity problems and 30% are legally blind. Saving the eye is a huge priority.

The cornea is complex tissue layer covering the surface of the eye that protects the eyeball, but allows light to pass. Many people with FD have damaged corneas because they are insensitive to injury and prone to drying out. Tears play a vital role in lubricating the eye. “Lack of tears is a key feature of the disease”, explained Dr. Mendoza. Tears are made up of water, oils, mucus, proteins and antibacterial agents, which provide the eye with nutrients, keep it free of irritants and help fight off infections. Artificial tears may keep the eye moist, but they lack the other essential components.

Dr. Mendoza spoke about a recent study showing that specific eyedrops can be made to act on the tear gland directly, and increase the eye’s own tear production in patients with FD. “This is a new break-through. There is no doubt that reduced tearing causes damage to the cornea in patients with FD, the idea that we can fix it is great’” he emphasized. Work is still needed to prevent cells in the retina from dying.

Advances in genetic therapy

UnknownSince the possibility of gene editing started, FD has been forefront of this new technology. The pioneering work of Dr. Susan Slaughenhaupt has enabled the possibility that the inherited genetic condition could be treated, and maybe even cured, by restoring IKAP protein levels.

Dr. Nikolai Naryshkin, from PTC Therapeutics told about the pipeline to build a better future for patients with FD. PTC are developing compounds that target the faulty gene, and make it copy more accurately. They will spearhead the challenge to make a novel drug for FD, engineered to fix the splicing defect with the hope it slowing degenerative features of the disease, like blindness and gait ataxia.

The scientific sessions closed, and were followed by the Photo Competition, Dystinguished 2016 FD Awards, and a panel of patients.

FD Day 2016. Photo by Steve Meyer.
Nikolai Naryshkin and Marla Weetall from  PTC Therapeutics, who have taken up the challenge to engineer a genetic therapy for patients with FD [Photo by Steve Meyer].

The expert Q&A sessions were held after lunch.