ABOUT US

After losing my son, Nick, at the age of a year old in 1987, I wanted my newborn baby Gina (born in 1999) tested immediately for Krabbe in the hope of saving her life. Gina would have to tolerate 9 days of intensive chemotherapy and receive stem cells from an unrelated umbilical cord donor that would give her the missing enzyme she needed to thrive. Gina was considered a miracle child as she lived to the age of 15 and passed away in 2015.

Gina was the third newborn with infantile Krabbe disease to be transplanted in the world. During her lifetime, she wasn’t able to walk independently and had to use a communication device to talk. However, she was age-appropriate cognitively, which allowed her to attend school, be very active in her community, enjoy swimming, participate in Girl Scouts, and travel all over the country.

Unfortunately, the life-saving treatment only lasted until Gina was approximately 12 years old, and then the disease starting progressing in the peripheral nervous system. The transplant was successful in that there was no decline or progression of the disease in the central nervous system (or brain). This information was discovered after Gina’s death and through the research of her brain and other tissues in her body being donated to science. These findings helped to answer many questions the scientists were asking in the labs and therefore advanced the research five years.

My oldest son, Phil, is a carrier of the disease, but his wife is not and therefore his children will not be affected by Krabbe disease. Both parents must be carriers of the disease in order to have an affected child. There is a one in four chance with each pregnancy that the child could potentially have Krabbe. Unfortunately, two of my three children have been born with Krabbe disease.

Since my first introduction to Krabbe, 30 years ago with the birth of my son, Nick (who suffered for seven months before being diagnosed), I have been on a quest to figure out what my role could be to help make a difference to families and children who are affected by this devastating disease. In 2012 when I formed Partners for Krabbe Research (P4KR) I chose a mission that would assist in the expansion of awareness and research efforts to further improve the lives of those born with Krabbe disease.

This year is particularly significant to me as it is the 100-year anniversary of Krabbe being discovered by Knud Krabbe in 1906. It would also be my son, Nick’s, 30th birthday, and Gina would be celebrating her “sweet sixteenth” year of life.

Thank you for being a part of my family’s journey in helping to make my quest a reality. I am on a personal mission to change the outcomes of the children born with this disease. My three children, Phil, Nick and Gina have given me the gifts I need to make Partners For Krabbe Research a foundation that can facilitate the change that needs to happen in Krabbe disease.

About Gina

After losing her son, Nick, at the age of a year old in 1987, Anne Rugari wanted her newborn baby Gina (born in 1999) tested immediately for Krabbe in the hope of saving her life with a transplant that would give her the missing enzyme she needed to thrive.

Gina was considered a miracle child as she lived to the age of 15 and passed away in 2015. During her lifetime, she couldn’t walk and used a computer to talk. However, she was age appropriate cognitively, which allowed her to attend school, be very active in her community, enjoy swimming, participate in Girl Scouts, and travel all over the country. Unfortunately, the life saving treatment only lasted until Gina was approximately 12 years old, and then the disease starting progressing again.

More research is needed in order to halt the disease process, and that is why Anne started Partners for Krabbe Research. Anne is on a mission to spread awareness of the disease that took the lives of two of her three children.

About Nick

Nicholas Rugari was born in 1986, second child of the Rugari family. Nick appeared seemingly normal at birth, however within his first month of life, had symptoms of Krabbe disease. Those early signs of the disease were colic, swallowing challenges, vomiting, and low muscle tone. However, the symptoms were misdiagnosed as “normal development” of a newborn.

As the months went on, the disease progressed in Nick’s little body leading to the necessity of a feeding tube, hypertonia, epileptic seizures, and then hypotonia (floppy baby). Nicholas was finally diagnosed at seven months of age with Infantile Krabbe disease after months of seeking a diagnosis with many specialists, hospital stays and medical interventions. The disease progression throughout the central and peripheral nervous system was rapid and Nick succumbed to death in 1987, at just a year and three days old.

Krabbe disease is a genetic disorder of which both parents carry the recessive gene. Each pregnancy between the parents has a one in four chance of having a child affected by Krabbe disease, aka Globoid Cell Leukodystrophy.

P4KR Accomplishments

Why Translational Research is important:

The last few decades have seen an explosion of scientific and technological breakthroughs. Unfortunately, patient care has not kept up with the rapid pace of new discoveries. The goal of translational research is to break down barriers between disciplines to quickly translate basic research discoveries into practical applications. This "bench-to-beside" approach requires basic scientists and clinicians to work more closely, with information exchanged in both directions. Community input keeps the research focused on issues that matter most to patients and their families.

P4KR supports the NDRD Brain and Tissue Bank at the University of Pittsburgh Medical Center in Pittsburgh PA. The NDRD Brain and Tissue bank was started in 2015 as an initiative with Partners For Krabbe Research to further research on post-mortem tissues from affected and transplanted patients with Krabbe disease.

Anne Rugari, founder of P4KR serves as the Consultant for the NDRD Brain and Tissue Bank. She coordinates the logistics involved between pathologists, clinicians, funeral homes, hospice, other social services when a family wishes to make a loved one’s tissue donation for research. As consultant, Anne is also involved with coordinating requests made by scientists and researchers who wish to obtain tissues for research from the NDRD Brain and Tissue Bank. Much has been discovered from the postmortem tissue samples of Krabbe patients. Partners For Krabbe Research is acknowledged in medical publications and journals for their work with the NDRD Brain and Tissue Bank.

Partners For Krabbe Research has also been acknowledged in a number of medical publications for their support in research. Here is the latest journal P4KR appeared in:

Molecular Therapy, The Society of Gene and Cell Therapy, entitled:

Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe’s disease after Global Gene Therapy.

Michael S. Marshall, et al 2018

Additional Services Provided by P4KR:

Funding of the NDRD Brain and Tissue Bank

Funding of equipment for research in animal models (UIC)

Demographic Study: P4KR is collecting information on Krabbe affected patients in order to have an accurate account of how many people are affected by Krabbe Disease all over the world. The information will help with advocating for therapy development, recruitment of clinical trials and will be used to support research to develop new treatments. The demographic study will be a support tool to improve the quality of lives for all who have encountered Krabbe Disease.

Please visit the Demographic Study Link on our website for more information or to participate in the study.

Other Organizations/Foundations, etc…

P4KR is involved with:

NORD (National Organization For Rare Disease)

Hunter’s Hope Family and Medical Symposium

Outreach and support to families who dealing with Krabbe Disease

Advocacy & Awards

Engage Health: Rare Disease Difference Maker
Awarded to Anne Rugari in 2019
https://www.engagehealth.com/rare-disease-difference-maker/

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