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Biochemical Diseases

We provide diagnosis, treatment and follow-up care for children with inherited metabolic diseases.
About

The Clinic provides assessment, treatment and follow-up care to children throughout B.C. and Yukon who have inborn errors of metabolism, liver disease, and a variety of disorders affecting nutrition and growth. 

If you need to cancel

If you need to cancel your appointment, please contact our clinical secretary as soon as possible so that your appointment time can be used by another patient.

If you need an interpreter

If an interpreter would be helpful for you, please phone us as soon as possible and we will arrange for this.

Other contact information

  • Website inquiries: rgiesbrecht@cw.bc.ca
  • Hospital Accessioning Lab 604-875-5286, 0700-1800 hrs

Physicians 
Dr. Sylvia Stockler, Division Head and BD Clinic Director

Dr. Gabriela Horvath  
Dr. Ramona Salvarinova  

Dr. Clara van Karnebeek  


Pediatric Nurse Practitioner

Kathleen Duddy


Psychologist
Dr. Cynthia Davis 


Clinic nurses

Susan Failanga
604-875-2345 Local 7597

Kathy Withers 
604-875-2345 Local 5073 

Dietitians
Alette Giezen 
604-875-2345, Local 5303

Barbara Cheng

604-875-2345, Local 7598


Keiko Ueda

604-875-2345, Local 7594


Social worker

Tami Kolb

604-875-2345, Local 7013 

Administrative Secretary

Stefanie Schaumann

Clerical staff
Ruth Giesbrecht (Academic Secretary)
Michelle Sebastiano (Clinical Secretary)
Sally Lin (Transcription)
Mir Lafek (Transcription)

 

Physician - The physician directs the medical treatment and care of the patient and provides information regarding the condition to 
other team members. The clinic physicians work closely together and regularly discuss patients. It is important to realize that you 
may not always deal directly with the same physician, but whoever you see will be familiar with your situation from discussion with other team members.

Clinical Fellow - A doctor who is studying a specialty within pediatrics. The Fellow works along with the clinic physician to assess and recommend treatment for the clinic patients.

Clinical Trainee - A doctor who finished medical school outside of Canada. The trainee works along with the clinic physician to assess and recommend treatment for the clinic patients.

Resident - A doctor who is studying pediatrics as a speciality. The resident works along with the clinic physician to assess and recommend treatment for the clinic patients.

Psychologist - A doctor involved in the care of metabolic patients for behavioral, developmental assessment and psychological treatment as required. 


Nurse Practitioner - The role of the nurse practitioner is to care for children and their families with a diagnosed, stable biochemical disease.  He/she orders medications, supplements and laboratory or diagnostic tests as needed; consults with other disciplines as necessary; collaborates with nursing, physicians, dietitians and social work.  The nurse practitioner can be the primary health care provider in the Biochemical Diseases Clinic, providing continuity of care similar to a physician, consulting with a physician colleague when necessary.

Clinic Nurse - A registered nurse with experience in working with children who have chronic health problems and their families.
The nurse acts as a liaison between home, hospital, and community. She helps to coordinate community services and follow-up assessments and assists with planning for discharge from hospital. She may also be able to help you obtain information regarding your child’s condition and treatment plan.

Dietitian - A registered dietitian with specialized knowledge of the nutritional management of individuals with those metabolic diagnoses’s treated with diet modification. The dietitian, in consultation with the health care team, determines the disease specific nutritional modifications needed to manage each metabolic disease and ensures that the nutritional 
requirements of each patient are being met. Dietitians are involved in the education, monitoring, and assessment of nutrition management of metabolic patients in both the inpatient and outpatient settings. 

Social Worker - A registered social worker with experience in working with children who have health problems and their families. He or she can provide counselling as well as helping to organize support services and practical assistance for families dealing with the stress of illness. 

Patient and The Family - While the biochemical Diseases Team may see other individuals with similar problems, there is no one 
else just like you! We recognize the individuality of each patient and value your input in decision-making. If you feel that you are not being given sufficient information or that we could do more to help meet your needs, please let us know.


 


Prepare

How the Clinic Works

  • Outpatients are seen at the Biochemical Diseases Clinic in the Ambulatory Clinic Building at B.C.’s Children’s Hospital.
  • The clinic is located on the Ist floor, Area #5.
  • Clinics are held Monday, Wednesday and Fridays each week.
  • During a clinic visit, weight, height and blood pressure measurements will be taken by the Clinic nursing assistant.
  • The Clinic Nurse may meet with you to discuss the assessments planned and any concerns you may have.
  • Assessment will be made by the physician or clinical fellow and plans for treatment discussed.
  • You may also meet with a dietician or social worker.
  • Other assessments, such as blood testing, X-rays, developmental testing or neurological assessments, may also be arranged.
If other assessments are required and the patient lives outside the lower mainland, we will try to schedule them for the same day or as close to the clinic appointment as possible.  You can assist us with this by making sure we know which other physicians and programs you are involved with at BC Children's Hospital and when you are due to be seen for follow-up.  Clinic appointments will be scheduled by the secretary approximately one month to six weeks in advance and you will be notified by mail.  If you need to change or cancel your appointment, please notify the secretary at least two weeks in advance in order to allow us to see another patient at this time. 


The results from the assessments and/or clinic visit are discussed by the full clinic team at a regular meeting to ensure that all aspects are considered and proper action is taken.


Please let Biochemical Diseases Clinic know if your child is going to be scheduled for a medical or surgical procedure.




Follow-up

Follow-up appointments will be scheduled by the clinical secretary approximately four to six weeks in advance and you will be notified by mail.

Follow-up appointments are arranged depending on test results - anywhere from 4-6 months depending on results and doctors plans.      

You can assist us by making sure we know which other physicians and programs you are involved with at BC Children's Hospital and when you are due to be seen for follow-up so that we can try and coordinate appointments on the same day.  If you need to change or cancel your appointment, please notify the secretary at least two weeks in advance in order to allow us to see another patient at that time. 

Patients who require hospitalization for testing and/or treatment will be admitted to B.C.’s Children’s Hospital. The clinic nurse 

and/or secretary will help to arrange this. While in hospital a different member of the Biochemical Diseases Team may be 
involved with you and your child from when he or she was an outpatient. The metabolic physicians team has ward rounds 
to discuss patients on Mondays from mornings between 9:00 am and 11:00 am. This is a good time to be available on the ward to discuss your child with them.

Patients are admitted for a single day at Medical Day Unit (MDU), located in the main building, in case we need to do any 
serial blood work or monitoring of various health parameters. 

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