Monthly Archives: January 2013

Rare Disease Day 2013 Invitation

Rare Disease Day 2013 is fast approaching and we would like to invite all students, faculty, researchers on Notre Dame’s campus as well as anyone else in the surrounding area or beyond, who are connected to a rare disease to join us in celebrating this day. We would like this day to be a mutual learning opportunity for our faculty, students, and guest patient families to share their story and work with rare diseases. Please join us in raising awareness for rare diseases!

If you are interested in participating, please contact our Program Coordinator, Marisa Truong, for more details concerning this event.


Phone: 574-631-1013

Rare Health Exchange Partnership with NORD

By Marisa Truong.

The National Organization for Rare Disorders (NORD) is an organization that represents all Americans who have or are affected by rare diseases.  They provide support to patient services organizations (PSOs) as well as patient groups without an official PSO.  NORD offers educational tools for patients, students, and physicians.  They also mentor PSOs to increase awareness about their disease, connect to physicians, find current clinical trials, and find research projects they can fundraise for.

One of NORD’s main goals is to educate the community about rare diseases.  They have compiled a very comprehensive list of all the known rare disorders and asked collaborating physicians to donate their time to write a report on each disease.  These reports include an overview of the disease, the available treatment options, news on current clinical trials, and links to more resources.  This repository of information is invaluable to patients as they are trying to find more information about their disease.

Every few years, NORD updates these disease reports to ensure patients are receiving the most current information.  However, updating these reports requires a lot of time and research. Since Rare Health Exchange continually looks for opportunities to integrate undergraduates with the rare disease community, we collaborated with NORD to assess the capabilities of undergraduate students to assist in updating these diseases. This past summer, we piloted a small project with NORD to develop this idea further. With detailed writing guidelines, our intern, Joey Kim, was able to complete and publish three rare disease report updates.  These updates are reviewed by NORD’s medical editor as well as a collaborating physician before the report gets approved for publishing.

As a result of Joey’s success, we have expanded the project and incorporated it into our Fall class’s curriculum. Each of our nine students has been assigned one rare disease to update and are currently in the process of being reviewed.  Two of Joey’s reports have been published on NORD and summaries of those diseases are included in this month’s newsletter. We will be featuring the other nine diseases in our future newsletters so look for these each month. We are excited to be collaborating with NORD and hope we can expand this project to include even more undergraduates.

Visit NORD’s website at to learn more about the wonderful work they do for the rare disease patient community and its health care providers!

L1 Syndrome

By Joey Kim.

L1 Syndome is an inherited, X-linked disorder that is caused by mutations in the L1CAM gene and targets the nervous system. Although this disorder occurs exclusively in males at an incidence rate of 1 in 30,000, it has been reported that 5% of females who are carriers of the L1CAM gene mutation present with mild symptoms.

The disease is characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), difficulty speaking, seizures, and an underdeveloped or absent corpus callosum. Individuals with this syndrome present with mild to moderate intellectual disabilities.

This syndrome is diagnosed by recognizing characteristic clinical and neuropathological symptoms.  It is also established by looking at the individual’s family history for the X-linked inheritance.  A molecular genetic test for the L1CAM gene can also be performed on a case by case basis.

Although there is no cure for L1, there are many options for disease management involving multidisciplinary teams that includes experts in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics. For inviduals with hydrocephalus, cerebrospinal fluid (CSF) shunts help reduce intracranial pressure. Early intervention is important for children with L1 so it is advisable that services such as special education, social support, physical therapy, and other medical services are available.

Check out these links to learn more about L1 Syndrome

Joey Kim’s L1 Syndrome update on NORD:

Full L1 Syndrome report by GeneReviews:

Kennedy Disease

By Joey Kim.

Kennedy Disease is a rare, X-linked recessive disease that occurs in males. It is a slow progressive neuro-muscular disorder that typically presents with symptoms between the ages of 20 and 50. The disease affects lower motor neurons that are responsible for the movement of many muscles in the legs and arms. These nerves that are connected to the spinal cord eventually become defective and die causing numbness, muscle weakness and inablity to control muscle contractions. The disease also affects nerves that control bulbar muscles so many patients also have difficulty speaking and swallowing.

Kennedy Disease affects fewer than 1 in 150,000 males and is very rare in females.  It has been diagnosed in Europe, Brazil, and Australia with a higher prevalance found in Australia and Western Finland. The Japanese population also appears to have a higher prevalence of Kennedy Disease due to the founder effect.

Diagnosis of Kennedy Disease involves recognizing physical signs and symptoms and confirming by molecular genetic testing on a blood sample.  Although there is no known cure for Kennedy Disease, many forms of therapy are available to treat the symptoms of the disease.  Physical therapy, occupational therapy, and speech therapy are commonly used to help an individual adapt to the progressing disease.  Braces, walkers, and wheelchairs are used to assist in ambulation.  For some patients with gynecomastia, an abnormal development of large mammary glands in males, breast reduction surgery is recommended.   With these symptomatic treatments, patients with Kennedy Disease have a normal life expectancy.

Check out these links to learn more about Kennedy Disease

Joey Kim’s Kennedy Disease update on NORD:

Kennedy’s Disease Association: