On September 21, 2011 We received confirmation that Chase's labs came back positive for Niemann Pick Type C
On October 4th-October 8th We flew to The National Institute of Health in Bethesda Maryland to enroll him in a study on the disease and to learn as much as possible about the disease and any trials and treatments being attempted.
On October 21st, after hours of research, hundreds of phone calls and emails and thousands of pages of reading, we informed Chase's Pediatrician that we would be seeking Cyclodextrin Therapy for him immediately. On the 26th we drafted several detailed reports of our findings and with our pediatrician's help arranged a meeting with Chase's Geneticist, Neurologist and a Pallative Care Physician to determine if someone was willing to take on the monumental task of acting as Chase's Chief Investigator in an Individual New Drug Trial.
After the meeting on November 3rd Dr. Leah Burke agreed to head the team. We hired reseracher Ron Browne to assist in an expeditious drafting of a protocol for the FDA for Chase. He had submitted successfully in the past for the two other families attempting this in the United States. Dr. Burke began the monumental task of prepping for Review Board approval here at the local hospital and worked quickly with Ron Browne to present a protocol that she felt had the best chance of approval by the FDA and Review Board in Vermont.
On November 29, 2011 Chase's IND application was sent to the FDA. They have thirty days to respond
December 16th, Dr. Burke presents to the Board in VT and is presently working to create a mutually agreeable plan.
Chase has his Medi Port Installed at the hospital. It is through this port that he will receive the IV Cyclodextrin infusions that we hope will significantly delay or arrest his disease progression. Cyclodextrin and saline are infusd through the port into his circulatory system. By using a port Chase only endurs a small stick with an access needle to recieve his medicine and to draw labs. Plus they numb the access point first. While risk exists with any procedure this is relatively safe and we don't have to worry about collpasing his veins. This type of infusion is commonly used to get chemotherapy into cancer patients.
December 23, 2011. We learn that the IV portion of Chase's Infusion Protocol has been approved by the FDA. They amended our dose escalation and mandated we start at lower saturation levels. We are presently compiling data on animals and the one other child under the age of 5 that has had IT (intrathecal) infusions, a little girl in Japan, to have a productive conversation with the FDA about our feeling that IT is necessary to cross the Blood Brain Barrier (see our Vocab page for more info.)
1/3/12 We sign hospital permissions...IV infusions of Trappsol Cyclodextrin via an implanted port begin tomorrow am
1/4/12 Chase becomes the youngest known receipient of HpBCD to arrest the progression of Niemann Pick Type C. Below his Pediatrician Dr. Alicia Veit stops by to say hello
1/5/12 The first infusion is over and done. He infused for six hours and was observed for two. No "adverse events" occured. An adverse event is a negative medical occurence, like fever, seizure or something far more ominous. This was to be expected as there has never been an adverse event in human infusions of HPBCD, its essentially a sugar complex.
1/27/12 48 hours after infusion number four and the change in Chase is undeniable. He is full of energy, crawls quite well again (still turning those little hands in like a bulldog on the prowl) and is able to stand up, unassisted, for short periods of time. His next infusion will be his first "dose escalation." Becuase Cyclodextrin has never been tried in a patient this young or small the FDA was very restrictive on the amount he could receive. Our hope is that we will be able to begin Intrathecal Infusions for him quickly in order that the HPBCD can get to work clearing excess cholesterol and lipids from his brain. For now we are delighted to report the infusions into his central nervous system are making him feel better and helping restore lost skills. Complacency, however, is not Chase's friend. Wish us well as we push forward and get what we feel he needs to give this little guy the best possible quality of life.