Biochemical Diseases
Division of Biochemical Diseases
The Division of Biochemical Diseases is committed to the diagnosis and management of patients and families in British Columbia affected by Inborn Metabolic Diseases. The Cystic Fibrosis Clinic is also under the umbrella of the division of biochemical diseases. It provides leadership and excellence in pediatric metabolic medicine through state-of-the-art patient and family-oriented diagnosis and care, exemplary teaching and ethical research.
Division History: In 1973, Dr George Davidson engaged in the care of patients with Cystic Fibrosis and Inborn Metabolic diseases, created a biochemical diseases clinic. In 1979, Dr. Davidson who was then head of the division of gastroenterology, was given the additional mandate to develop this clinic as a provincial program – the Biochemical Diseases Clinical Service (BDCS). The need was recognized for such a clinical program to complement the biochemical diseases laboratory which Dr Derek Applegarth was developing in the department of pathology at the old Children’s Hospital. Both the laboratory and clinical service were transferred to the ‘new’ BCCH when it was built, and shortly thereafter, BDCS and the CF clinic formed a new Division of Biochemical Diseases (BD). In 2005, Dr. Sylvia Stockler, a (metabolic physician) also with CF experience from Vienna, succeeded Dr. Davidson as division head on his retirement from this position. Dr. Davidson remains as director of the CF clinic.
Biochemical Diseases Clinic
- Founding member of the Canadian Inborn Errors Society - Garrod Association
- Played vital role in the development of 1st Adult Metabolic Clinic (1999) in Canada
- Established Specialized Product Distribution Centre (to facilitate patients on the special metabolic diet) and BCCH Lactation Support Service, now both are independent programs
- Established “Pediatric Neurometabolic Clinic” with neurology
- Doubled the patient clinic visits in the last two years
- New referrals increased from 10 to 25 % of the total patient encounters
- Significantly decreased the waiting period for the patient appointments
- Over 1700 'Outpatient Home Monitoring' encounters annually
- Tandem mass spectrometry based New Born Screening (NBS) is used for detection and follow-up for Phenylketonuria, Galactosemia and Medium chain acyl-coA dehydrogenase deficiency (MCAD) and expanded NBS for metabolic diseases is under development In process joint “Clinic for Mental Retardation” with neurology and genetics
- In process joint “Lysosomal Storage disease clinic” with genetics
- In process Standardization of diseases specific treatment and follow-up protocols
Cystic Fibrosis Clinic
- Developed one of the 1st adult CF clinics in Canada.
- One of the 1st clinics to implement transition protocols to the adult clinic
- 1st adult CF centre to have more patients than its progenitor Children’s clinic, an indicator of the good health of CF patients in B.C.
- Outreach Clinics for CF patients
- With improved treatment and follow up, reduced the number of total in-patient days by 25 %
- Chronic Pseudomonas incidence has dropped to 12 % (2007) from 44 % (1995) in our patient population
- Clinic is accredited by the Canadian Cystic Fibrosis Foundation
- Newborn screening (NBS) for Cystic Fibrosis is expected to be in place shortly
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