Talking to kids about genetic differences- Three great books to share

Talking to kids about genetic differences- Three great books to share

It can be difficult to explain complicated genetic topics to children with chromosomal differences, or to discuss a child’s uniqueness with family members, siblings, or even to curious strangers. Finding the right words can be even harder if your child is newly diagnosed, or if very little is known about what to expect in the future.

 The books summarized below address uniqueness, inclusion, even genetic/chromosomal differences. These frank, but endearing stories can better arm parents and caregivers with the language to talk about their child’s differences.

Read More

Bridging Health and Social Care for Rare Disease Day 2019

Bridging Health and Social Care for Rare Disease Day 2019

Rare Disease Day is held annually on the last day of February to raise awareness about rare diseases. This effort is targeted at the general public as well as those who influence legislation, research, and healthcare decisions that affect rare disease patients. The first Rare Disease Day took place on February 29, 2008. Since this day only occurs every four years on a leap year, it signifies the rarity of rare disease.

The theme of this year’s Rare Disease Day is “bridging health and social care”. This addresses the need for better coordination of all aspects of rare disease care including medical, social, and support services. The theme sheds light on how performing daily tasks can be difficult for rare disease patients and their caretakers. Activities such as cooking a meal, shopping, and cleaning the house can be difficult or impossible for someone with a disability.

Read More

How The Orphan Drug Act Opened the Door for Rare Disease Research

How The Orphan Drug Act Opened the Door for Rare Disease Research

Drug research and development is a complicated process that the average person has little influence over and rarely thinks about. This is not the case for rare disease patients. Thoughts about how drugs are developed and why this process is so expensive are sure to come up more often for those affected by a rare disease. It can be a source of frustration since many pharmaceutical companies are reluctant to develop treatments for a rare disease.

Read More

Living with Issacs’ Syndrome, a Rocky Story

A walk in the evening had left senior investment banking executive Tim Johnson in immense discomfort.

The 38-year-old based in Mumbai described a stabbing pain that had developed locally in the lumbar region and had extended to his right leg, which began cramping continuously. The next morning, the pain persisted and was accompanied with stiffness that made movements difficult. Johnson decided to consult an orthopedic specialist. It was February of 2016.

After being put on drugs with little to no improvement, Johnson consulted a gastroenterologist. He was then referred to a neurologist, and it was at this stage that Johnson received his first diagnosis of polymyositis, an inflammatory muscle disease.

Johnson’s month-long stay in the hospital involved running test after test to find a definitive diagnosis and careful deliberation of treatment. He was barely able to walk and dependent on painkillers taken three times a day. A month in the hospital left Johnson with no other choice but to resign from his investment banking work, which could not be left unattended to for so long.

By March 2016, Johnson’s team of medical experts had completed a thorough motor examination that had revealed average muscle status with wasting, stiffness in the upper limbs, excess weakness with spontaneous gross fasciculations in both arms and in some areas of the face. A nerve conduction study and EMG confirmed a final diagnosis—Isaacs’ Syndrome.

Also known as neuromyotonia, Isaacs’ Syndrome is a rare, muscle function disease currently affecting an estimated 100 to 200 people worldwide.

“It being a rare disease, the costs involved were very, very high,” said Johnson, who now works as a financial consultant. “In Indian Rupees, my bill was Rs 20 Lakhs [for hospitalization alone, about $31,000]. The rest of the costs, like travelling, were separate.”

Because the disease is so rare, Johnson has yet to meet anyone else with Isaacs’ Syndrome. But, he says he is part of a Facebook group for people suffering from it worldwide. Here, individuals can exchange ideas and share their stories.

“To be honest, I have been dealing with it alone,” said Johnson, who plans on posting in the Facebook group more often. “I am searching for a permanent solution and [trying] not to continue with symptomatic treatment only.”

Such symptoms that Johnson still deals with on a daily basis are commonly experienced among others with the disease and can occur when the peripheral nerves outside of the brain and spinal cord become easily excited, causing the muscle fibers they synapse with at the neuromuscular junction to continuously contract.1 This hyperexcitability leads to involuntary and constant muscle activity producing stiffness, cramping, and delayed relaxation, all of which can result in difficulty walking as well as fatigue.3

In a subset of cases, other symptoms may include excessive sweating, insomnia, seizures, constipation, and personality change, which may point to Morvan syndrome.3

The specific etiology of Johnson’s Issacs’ Syndrome remains unknown, but in many cases, it is either acquired or inherited genetically. In the case of acquired neuromyotonia, there is evidence suggesting the role of certain antibodies perturbing the normal functioning of voltage-gated potassium channels.2 These antibodies have been detected in 30-50% of patients.7 Neuromyotonia can also be triggered by an altered immune response to a neoplasm, or tumor, and is paraneoplastic in up to 25% of patients—often signaling potential thymus or lung cancer.7

While some cases of Isaacs’ Syndrome are acquired and may predate cancer, Isaacs’ Syndrome can be inherited as well. In 76% of patients with autosomal recessive axonal neuropathy with associated neuromyotonia (ARAN-NM), mutations in the histidine triad nucleotide-binding protein 1 (HINT1) gene on chromosome 5q31.1 were identified.4

“As far as I can recollect, there were no genetic tests performed,” Johnson wrote in an email. “PET scan was performed, and it showed no traces of cancer. [My] clinical manifestation of Isaacs’ Syndrome was typical.”

Today, Johnson is still managing his symptoms, which continue throughout the day and even during sleep. However, with a balance of medication, meditation, yoga, and walking, his symptoms have reduced in intensity. Aside from closely monitoring any changes due to medication or food, Johnson says he tries not to think about his disease too much.

Instead, he strives to keep a positive outlook on life by watching inspirational movies “again and again and again,” including the Rocky series.

“I have this quote: ‘Going in one more round when you don’t think you can – that’s what makes all the difference in your life’ by Rocky Balboa in my room,” Johnson said. “I see it first thing early morning and the day is history.”

Johnson says he views his disease both as an opportunity and responsibility to connect with more people and organizations, create awareness, and to learn more about himself.

“I wish and urge people to create the power of awareness and be a part of any social expedition to help others,” Johnson said. “Because of the position that I’ve been put in, I think it’s important to use my voice and people’s support to do as much as I can.”

The patient's name has been changed to maintain confidentiality


  1. UpToDate -Paraneoplastic syndromes affecting peripheral nerve and muscle, Josep Dalmau, MD, PhD and Myrna R Rosenfeld, MD, PhD
  2. Newsom-Davis J, Mills KR. Immunological associations of acquired neuromyotonia (Isaacs' syndrome). Report of five cases and literature review. Brain 1993; 116 ( Pt 2):453.
  3. (
  4. Ahmed A, Simmons Z. Isaacs syndrome: A review. Muscle Nerve 2015; 52:5.
  5. Tim’s pdf document
  7. Skeie, G. O., Apostolski, S., Evoli, A., Gilhus, N. E., Illa, I., Harms, L., Hilton-Jones, D., Melms, A., Verschuuren, J. and Horge, H. W. (2010), Guidelines for treatment of autoimmune neuromuscular transmission disorders. European Journal of Neurology, 17: 893–902. doi:10.1111/j.1468-1331.2010.03019.x

Leading the Way: Beyond the Diagnosis

Leading the Way: Beyond the Diagnosis

The Rare Disease United Foundation launched the Beyond the Diagnosis exhibit just two years ago. The idea was that portraits of those living with rare diseases could allow people to become more engaged with the rare disease patient community; that there is more to a person living with a rare disease than the diagnosis itself.

Read More

Leading the Way: Positive Exposure (Part Two)

At the Rare Genomics Institute, we understand that enacting change cannot happen unilaterally and that solving medical mysteries does not come without teamwork. We stand proudly at the forefront of the utilization of genomic sequencing for the purpose of identifying, treating and hopefully curing rare diseases. At the same time, we realize there are many other people outside of our organization who are just as fundamental to the fight against rare diseases as we are. The team at RG is inspired by those who dedicate their lives to helping others affected by rare disease. Here is one of their stories:

Last time we began to showcase a remarkable individual whose chosen path in life is to convince the world that all people are beautiful. Rick Guidotti creates positive imagery where others choose to ignore it: his photographs allow the viewer to realize that everyone, no matter their disability or condition, is beautiful.

Beautiful Light:

This does not come without its challenges. Before photographing those with Fragile X Syndrome (a genetic marker for Autism), Rick did not know that those with the disease prefer not to look into other people’s eyes. When attending an event with the hopes of photographing some children with Fragile X, Rick was surprised when many of the children ran away from him screaming.

Looking into a camera was apparently a scary experience for these children. In an effort to remedy the situation, Rick began photographing a little girl’s doll and showing her the pictures. Giggling, she brought Rick all of her dolls to photograph. After running out of dolls, the girl showed Rick her friends at the event, and then her family. Eventually, Rick had photographed everyone in the room.

Rick’s technique in photographing his subjects (or as he refers to them, “Ambassadors”) should be noted:

(I) just turn the light on these amazing people that normally don't have a light shined on them and they're usually beaming. So many times it’s not just the person that’s beaming on the set, it’s their families that are off set that are beaming even brighter: their kids are finally being seen the way that they should be…People have so much to offer, no matter what their capacity happens to be, the joy is in there. That's what we need to see. There isn't anybody that should never be seen in that beautiful light. We should all be seen in that light. That's what Positive Exposure is about: to make sure that everybody, everybody has that opportunity.

Faces Redefining Medical Education:

Medical textbooks and training materials are in dire need of more humanized photos of people living with disease. Most imagery found in those materials is stark: it is designed to show the (often literally) naked and harsh reality of physical deformity. It ignores that those living with diseases are people, rather than objects. In designing photographs to show simply how a disease presents itself, the makers of medical texts often ignore the human element in their pictures.

Through Positive Exposure’s FRAME (Faces Redefining Medical Education) program, Rick is working with the medical community to re-craft ideas of what an appropriate image can be in a medical model.

Rick began his work on the FRAME project highlighting Marfan’s Syndrome, “I thought, as an artist, how can I present Marfan's Syndrome (with) all the information you need as a healthcare provider in training to identify Marfan's, but let’s add the most important, key ingredient which is missing in all these photographs: humanity.”

The reason for the FRAME project is simple, “Nobody, and this is across the board; nobody wants to be seen as a disease or diagnosis. We always want to be seen as a person, first and foremost. (We) also have an opportunity to see all of these great Ambassadors the way someone that loves them sees them: through the eyes of their mom or dad, through the eyes of their partners or their children or their siblings or their best friends.”

The FRAME project doesn’t end at still photographs, however. FRAME’s foundation is a series of short videos (around 10 minutes in length) that highlight the hallmarks of a disease or condition. The twist that makes these instructional videos more impactful than most: they’re told from the perspective of either someone living with (or a loved one of someone living with) a particular disease or condition.

The impact of these much more personal experiences cannot be overstated, “senior physicians have never even heard of some of these conditions before. But med students can get seven minutes where they can learn from Winnie, what these conditions are, and (they’re) going to remember it…They're going to be better healthcare providers because they saw these kids not in the clinical environment. They met these kids being kids. They met these kids not in crisis.”

Pearls Project:

Positive Exposure has taken the sentiment of the FRAME program one step further with a project simply titled, “Pearls.” It is clear that not only the medical community, but rather society at large, could benefit from a fuller understanding of each of its members. In collaboration with the Museum of Tolerance, Positive Exposure has facilitated an in-person/online hybrid educational opportunity for children and young adults so that people may begin to understand the differences among themselves.

In the program, Positive Exposure’s Ambassadors share their unique perspectives in life with others who may have questions. These Ambassadors speak about their differences, but they also facilitate more casual conversation: all in an effort to bring awareness to the community at large that our differences in a way make all of us the same.

Pearls has been particularly well-received, according to Rick, “People are just embracing (it) because (Ambassadors) are giving people an opportunity to not look away… (The) Pearls project and all of our other programs are creating opportunities to steady the gaze of the public long enough so they can see beauty in difference and then, of course, to see around that (difference).”

Moving Forward:

From April 5th through April 12th, the Art Director's Club in New York City hosted a Positive Exposure's Spring Gala. That event serves as a model for the organization's future publically. Rick is determined to feature both the FRAME and Pearls projects in future exhibitions, with an eventual eye at integrating each program into American educational programs.

It is important to not lose sight of the reason for the existence of Positive Exposure: the celebration of life and beauty, in all of its forms.

As I personally struggled to define beauty, Rick stated elegantly, “We all have our own ideas of what beauty is. In most of us though, unfortunately, it’s already been defined by somebody else's standard…Beauty is personal. Beauty is something we all should be empowered to see, and we should all be allowed the freedom to embrace our own ideas of what's beautiful.”

Hopefully through Positive Exposure, we can change how we see beauty: just imagine how much we could change.

Mission Possible

Mission Possible

The birth of a child is a precious moment filled with hope, love, and anticipation. In the case of Stephen and Sally Damiani of Melbourne, Australia, the birth of their son was no exception.

Massimo “Mo” Damiani was born on July 22, 2008 to proud parents and smiling relatives. Everything was as expected during the first month of his newborn life, eating, sleeping, and filling diapers. That all changed when Stephen found something unusual on Mo’s back.

Read More

Reading Primary Research

The promise of new treatments and cures excites our imaginations, especially when we’re looking to help a loved one or ourselves. Information on rare diseases is so hard to come by that any news on a potential discovery is welcome. But how accurate is that news? At a time when more information lies at our fingertips than ever before, healthcare professionals, patients, and caregivers have to be able to sift through all the claims to find the facts.

Read More

The Impact Of Rare Disease Research On The Development Of New Medicines

Karla Lant of Rare Genomics Institute recently contributed to Clinical Leader with the article The Impact Of Rare Disease Research On The Development Of New Medicines.

"When we consider rare disease research and apply a cost-benefit analysis, it becomes clear that the benefits of this kind of research far outweigh the costs. Unfortunately, though, too often this kind of assessment stops short; only the immediate benefits of the research are considered. Discovery of possible cures, treatments, or preventative tools for the diseases in question are generally thought to be the only benefits..."

Read the full article >

Creative Intellectual Property Strategies for Rare Diseases

Innovations in medical technologies and therapies play a major role in today’s advancements in public health. This in turn has resulted in the regulatory ethics paradigm (REP) which ensures the rights and welfare of the participants of clinical research.

Read More