Dr. Caroline Hastings
Oakland Children’s Hospital, Oakland, California
Renown Medical Center, Reno, Nevada
Dr. Caroline Hastings is currently overseeing Addi and Cassi’s compassionate use trial with hydroxy propel beta cyclodextrin (HPBCD) study that was approved by the FDA in March 2009. Dr. Hastings directs the inpatient hematology/oncology unit at Children’s Hospital Oakland and also manages the satellite hematology/oncology clinic at Renown Regional Medical Center in Reno, Nevada. We are very fortunate to have Dr. Hastings as part of our team as she has tremendous experience dealing not only with cancer cases but complex medical cases involving children.
Dr. Mark C. Patterson
Mayo Clinic Department of Neurology
Dr. Marc C. Patterson is one of the world’s foremost child neurologists with special expertise in neurometabolic and neurogenetic disorders, with a particular focus on Niemann-Pick Type C disease. Dr. Patterson travels around the world to meet with Niemann Pick Type C patients like Addi and Cassi. Here is a video of Dr. Patterson explaining the disease.
Dr. Patterson is consistently listed in “America’s Top Doctors” by his peers. You can read about his outstanding achievements by clicking on the links below:
- Dr. Marc Patterson’s professional background
- 1 year results of Miglustat – trade name ”Zavesca”
- A Riddle Wrapped In Mystery – Niemann Pick Type C Disease:
Dr. Forbes (Denny) Porter
National Institute of Child Health and Human Development
National Institutes of Health, Bethesda, Maryland
Dr. Forbes “Denny” Porter is one of the National Institutes of Health’s leading senior investigators in autosomal recessive cholesterol disorders including Niemann Pick Type C (NPC) and Smith-Lemli-Opitz syndrome (SLOS). Dr. Porter is currently conducting a natural history study at the NIH. In July 2009, Dr. Porter announced a therapeutic clinical trial with N-Acetyl Cysteine (NAC) to confirm the first plasma biomarkers in Niemann Pick Type C disease.
Addi and Cassi visited the National Institutes of Health in November 2007 and July 2008 to participate in the natural history study. This involved a week long trip to the NIH and multiple tests including 2 ½ hour special MRI scans, speech and swallowing testing, blood work-ups, a spinal tap and eyes exams. All tests are designed to look for biochemical markers in NPC children. Our next trip is scheduled for October 2009.
Dr. Porter is currently looking to enroll additional Niemann Pick Type C patients into the N-Acetyl Cysteine trial. For more information about the study, contact Nicole Yanjanin at Dr. Porter’s office: 1-301-594-1765; firstname.lastname@example.org.
Dr. Susan Sorensen
Dr. Susan Sorensen, Addi and Cassi’s local pediatrician, was the first doctor to detect Addi and Cassi’s enlarged spleens (splenomegaly) through abdominal exams at 2 years of age. Dr. Sorensen has helped us run multiple tests to reach a diagnosis. If it was not for Dr. Sorensen pushing us to seek answers and encouraging us to see specialists outside of the Reno area, we may still not have a diagnosis.