Category Archives: News

NKH Focus Group 2016

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NKH FOCUS GROUP WITH ND STUDENTS
Thanks to the Sarbs and Fitzpatricks for speaking with the students on Friday about Notre Dame and NKH research. Students have a better understanding of the affect that NKH disease has on patients and families. They worked on ways to raise awareness through social media and developed a facebook page to advertise this event. Good Job ND students!
Thank you to Pat and Lynda for sharing their story of the Sarb’s long standing history with Notre Dame starting with Father Sorin and now working with Dr. Haldar and CRND staff on NKH research.
Mary and John Fitzpatrick were gracious to share their family experiences with caring for a child with NKH and how they are raising funds for research through “Fiona and Friends” through the sale of wristbands $3 each and all proceeds go to this fund for NKH Research.

For more details on this event, please visit: https://www.facebook.com/events/181159685578035

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Answers to CRND’s SIGNAL Newsletter.

Find the answers to Notre Dame’s Center for Rare and Neglected Diseases newsletter, SIGNAL below!

1. Even though Jervell & Lange-Nielsen syndrome equally affects both males and females, the disease:

A. is more aggressive in males.

B. presents early in females.

C. has less life-threatening events in females.

D. None of the above.

 

2. Individuals with Hyperekplexia react to unexpected stimuli: 

A. Slowly.

B.Excessively.

C. Do not react.

D. They react even without stimuli.

 

3. Cardiofaciocutaneous syndrome symptoms include all of the following except: 

A.Poor growth and dry skin.

B. Heart abnormalities.

C. Hearing Loss.

D.Cognitive delays.

 

Answers:

1. C

2. B

3. C

 

Thank you for participating!  If you have not yet read CRND’s SIGNAL newsletter be sure to do so to learn more about their accomplishments this past Spring!

Notre Dame Rare Disease Day Celebration Saturday February 23rd, 2013

On Saturday, February 23rd we held our annual Rare Disease Day event. This year we joined patient families, faculty, and students together to celebrate Rare Disease Day in order to raise awareness and increase advocacy for rare diseases.  We celebrated a little early so that the community in our regional network could attend. We hosted four different discussion panels focusing on rare disease research, ethical dilemmas within rare disease work, patient family insights, and student outreach through our Rare Health Exchange program.   The goal of our event was to engage our students, faculty, patient families, and local community in a group discussion to address the challenges the rare disease community faces.  Our panels facilitated discussion across many disciplines in order to collaborate on solutions for improving the many roadblocks rare disease patients encounter including disease management, time for diagnosis, new therapies and education for health professionals.

We will be posting more photos soon so come back to check out more photos from the event!

Check out the video below to see our very own Dr. Shaun Lee and his band perform Notre Dame’s rendition of the Fight Song for rare diseases!

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.

Email: marisa.truong@gmail.com

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 http://www.rarediseases.org 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:

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract

Full L1 Syndrome report by GeneReviews:

http://www.ncbi.nlm.nih.gov/books/NBK1484/

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:

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/986/viewAbstract

Kennedy’s Disease Association:

http://www.kennedysdisease.org/

Jose A. Bufill, M.D. St. Joseph Regional Medical Center, South Bend

Summary by David Brouch.

On Friday, September 21 2012 Dr. Jose A. Bufill visited Professor Haldar’s Topics in Rare and Neglected Diseases class. Dr. Bufill is currently practicing at Michiana Hematology-Oncology, P.C., and has had a distinguished career in the medical field. He spoke about N-acetyl-cysteine (NAC) and its possible role as a treatment for Thrombotic Thrombocytopenic Purpura (TTP).

Dr. Bufill began his talk by explaining the clinical features of TTP and reviewing its pathogenesis. TTP had been considered a rapidly fatal clinical syndrome until the development of plasma exchange treatments in the 1990’s. This rare disease results from the altered metabolism of Von Willebrand Factor (VWF), a large molecule with an important role in normal blood clotting. Very large multimers of VWF produced by endothelial cells are normally broken down by a specialized enzyme into smaller multimers in small arteries and capillaries throughout the body. In the disease state known as TTP, this breakdown is impaired and “ultra-large” VWF strings accumulate in these small vessels. The accumulation of ultra-large multimers form a mechanical and chemical “sieve” which damages red blood cells and activate platelets as they pass through these high shear blood vessels. The enzyme which cleaves VWF and is impaired in TTP – recently named “A Disintegrin And Metalloproteinase with Thrombo Spondin Motifs type 1 – 13” (ADAMTS-13) –was discovered a few years ago, and is the subject of intense research interest today. This disease can affect a variety of patient types, but seems to most commonly affect overweight, middle-aged females. The most important clinical problems caused by TTP include neurological symptoms (confusion, seizures and coma) and renal failure. If left untreated, TTP results in the death of almost all affected patients.

The current standard treatment for patients with TTP – plasma exchange – is cumbersome and expensive. Taking into account new information about the biochemical basis of VWF physiology and the pathophysiology of TTP, investigators in Seattle and Houston recently suggested that N-acetyl-cysteine (NAC) may benefit patients with TTP. This compound is inexpensive and has been approved for human use for many years. It was proposed as a possible therapy for TTP because it weakens the disulfide bonds that link VWF multimers by means of a free thiol group. Experimental data published last year in the Journal of Clinical Investigation suggests that NAC may be of great benefit to TTP patients. Dr. Bufill concluded his talk by presenting his experience giving NAC infusions to a South Bend patient with severe, refractory TTP.

Patient Family Visit: Tylor, Jenn, & Sy

Summary by Marisa Truong.

For class Friday, March 23rd, 2012 we had the unique opportunity to invite a patient family that we have been working closely with to come out and speak to the students.  Our friends, Tylor White-Richardson, Jenn White and Brian (Sy) Simon were gracious enough to drive out from Iowa to come visit our class and talk to the students about their journey with Tylor.

The visit started off with a casual lunch with the family and a quick tour of Notre Dame’s Museum of Biodiversity.  It seemed as though Tylor really took a liking to the giant dinosaur head in there!  After lunch, Jenn (Tylor’s mother) gave a brief lecture about their journey with Tylor, focusing on the years struggling to find a diagnosis.  It was a touching story that really highlighted the struggles a family goes through while trying to find a diagnosis.

This added a personal dimension to the students’ learning experience and taught them how to empathize with patients and to keep that in mind in the future when they become health care providers.  Jenn and Sy emphasized to the students to remember that “they are also people” in the doctor’s office, yes they may need to go over medical protocols, but as they are walking out of the office with the patient it’s okay to talk about sports, current events, or anything else of interest.  It really helps the patient develop a deeper level of trust with the physician as well as puts the patient more at ease.  They also reminded the students that while they are treating a patient, they need to relay information in a way that is unintimidating and easy for the patient to understand.  Many patients are overwhelmed with medical jargon and do not even know where to begin asking questions if they don’t understand.  It is most helpful to patients if the physician is patient and thoroughly descriptive when explaining a situation.

We would like to thank Tylor, Jenn, and Sy for all of the work they have done with us for Rare Health Exchange as well as taking the time to come out and visit us and share their incredible story.  They have done wonderful work to bring awareness to the Niemann Pick Disease Typce C community.  Check out Tylor’s blog to see more pictures and read about his story!