How many orphan diseases are there?

There are currently nearly 7,000 rare diseases that occur less than once in every 200,000 births in the U.S. Of those diseases, 95% have no FDA approved drug or treatment therapy.

From question mark to exclamation point.

In 1991, words such as "athlete", "graduation" and "career" were removed from Ryan Dant's vocabulary. That was the year he was diagnosed with Mucopolysaccharidosis I (MPS I).  Average lifespan of a child with MPS I: 10 years. Thanks to parents who refused to accept the terms of his predicament, the hard work friends, neighbors, and classmates put into the Foundation bearing his name, and a key partnership with an incredible team of scientists at UCLA’s LA BioMed, Ryan's lifespan has now extended beyond 25 years full of achievements way above average.

Ryan Dant playing soccerLike any child, Ryan wanted to be the best at whatever sport or activity he participated in. But as the disease strengthened its grip on his body, those dreams were replaced by the desire to just be a normal kid. When his joints stiffened to the point it made sports impossible, his father would often take long detours around playgrounds to spare young Ryan the pain of watching his playmates on the fields without him. By age 9, Ryan had stopped talking about normal childhood dreams like attending high school, obtaining his driver’s license, or even growing up.  Ryan’s body had begun to tell him what his future would hold.

Through a drug therapy (Aldurazyme) developed thru a partnership of the Ryan Foundation by Dr. Emil Kakkis at Harbor UCLA (LA BioMed), Ryan regained the majority of motion lost to MPS I. Ryan was a participant in the first human trial of Aldurazyme in 1998 and has been undergoing weekly four hour IV infusions since his first infusion on February 13, 1998.  Once Aldurazyme received FDA approval in 2003, Ryan’s parents began administering the infusions at home, saving many hours of hospital visits.  Ryan is now the longest treated person on Aldurazyme in the world.

Ryan Dant Graduation with Dr. Emil KakkisRyan’s long desired normalcy was now in his grasp. It stayed with him all through high school, where he helped the Hebron Hawks varsity baseball and football coaches with their day-to-day tasks; actually getting in several baseball games and one football play during his senior year. Though Ryan struggled academically in High School, it wasn't until he began taking college level studies at Brookhaven Junior College in Dallas that MPS I once again threatened his dreams. The blood/brain barrier, the body’s natural system which acts very effectively to protect the brain from many common bacterial infections, also prevents Aldurazyme from passing from the blood stream into the brain and spine.  The reality that Ryan’s brain and spine had continued to store glycosaminoglycans (GAG’s) was now becoming more evident in short term memory issues.  College or further academics would remain an impossibility without the ability to retain studied material.

Enter LA BioMed once again.  Dr. Emil Kakkis had moved on to help several other Orphan Disease therapies become reality in the biotech world, but his successor at UCLA’s LA BioMed, Dr. Patricia Dickson, would prove to be just as dedicated.  Dr. Dickson’s drive to continue working new therapies for Lysosomal Disease became evident very quickly.  The Ryan Foundation’s partnership with LA BioMed continued, and with the help of many friends and private benefactors, to date over $2,000,000 has been forwarded to help scientists at UCLA alone reveal treatments for MPS I.  Dr. Dickson’s team, with the aid of the Foundation’s funding as well as other funding sources, was able to pioneer Intra-Thecal Therapy for MPS I, which introduces Aldurazyme to the brain via spinal tap. 

The summer of 2011 saw a new trial for MPS I at the Harbor UCLA hospital, facilitated by Dr. Dickson and Neurologist Dr. Agnes Chen.  Participants from all over the US began traveling to Harbor to begin the new brain and spine therapy.  Dr. Dickson partnered the program with doctors at Oakland Children’s Hospital and the University of Minnesota, who would provide test results for the trial participants.  The trial is on-going and the Ryan Foundation continues to cover all travel costs for the trial participants and parent for the multiple return trips to the campuses.

Trial protocols must be written with very specific patient parameters so outcomes may be measured consistently with each participant. Ryan was not able to qualify for the trial because of severe spinal stenosis, which may have blocked the drug from moving freely up the spinal column.

Refusing to quit, Ryan himself contacted the UT Southwestern Medical Center RN Sarah McNeil who worked with him when he returned to Dallas to receive his weekly IV infusions back in 1998.  Ms. McNeil, still with UTSW Medical Center, was now working with Neuro-Oncologist Dr. Elizabeth Maher, who was quite adept at treating brain tumors with Intra-Thecal therapy techniques.  Dr. Maher offered to take Ryan's case.  Ryan completed three IT infusions in the spring of 2012 and is now on a protocol of quarterly maintenance IT infusions coupled with weekly IV infusions.   His short term memory and academic performance are being measured at the University of Minnesota.  Ryan has continued taking two courses per semester throughout the UTSW trial and is on target to graduate from Brookhaven JC in December 2013.

Ryan spent one summer working in the visiting clubhouse of the Texas Rangers baseball club and five years working part-time for Coach June Jones and the SMU Mustangs football team as an Equipment Manager.  Upon completing his Associates Degree, Ryan’s goal is to continue his academics at the University of Louisville, where a scholarship awaits him as a student Equipment Manager for Coach Charlie Strong’s Cardinals.   

Ryan is continuing to work his plan for a positive tomorrow and once again has a full vocabulary…and a full life ahead of him!

Ryan Dant with Baltimore Oriole.

Ryan Dant and his Ford Mustang.

Ryan Dant and Navy player.