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Biochemical Genetics

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

Our Program

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. 

How the Clinic Works

  • 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 dietitian 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 Genetics 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 Genetics 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 Investigation Facility (MIF), located in the main building, in case we need to do any serial blood work or monitoring of various health parameters. 





 
 
 

 

 



 
 


Your Visit
What to Bring
It is important to your child to make this visit as informative as possible, so the adult(s) who come with her/him should have the best knowledge of the history. Please bring the following to each clinic visit:
  • BC CareCard/Services Card
  • List of medications your child takes
  • Medical or personal records, such as x-rays or lab tests. If you are unsure about what to bring, please call the clinic office.
  • If you have a number of questions, most parents find it handy to make a list to bring with them
  • For more information on planning your visit, please see here: http://www.bcchildrens.ca/our-services/your-visit/planning-your-visit

If You Need to Cancel

If you need to change or cancel your appointment, please notify the secretary (604-875-2880) at least two weeks in advance in order to allow us to see another patient at this time. 

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.

If Your Child Has An Infection

If your child has been in contact with any infectious diseases (such as chicken pox or measles), during the three weeks before your appointment, please let us immediately. We may need to reschedule your appointment for the safety of staff and other families.

Other Contact Information

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





Our Team
Our Team

Clerical Staff:

Michelle Sebastiano (Clinical Secretary)

604-875-2880 

Sally Lin (Administrative/Academic Secretary)

604-875-2628

Mir Lafek (Administrative Secretary)

604-875-2345, Local 6491

Emily Kim

604-875-2345, Local 2731


Clinic Nurses:

Susan Failanga, RN

604-875-2345 Local 7597

Kendra Schiissler, RN

604-875-2345 Local 5073 


Physicians:

Dr. Sylvia Stockler, Division Head 

Dr. Ramona Salvarinova, BD Clinic Director

Dr. Gabriella Horvath

Dr. Catherine Brunel-Guitton

 

Fellows:

Dr. Caoimhe Howard

Dr. Shaymaa Shurrab

Dr. Mehdi Yeganeh

 

Dietitians:

Gloria Ho, RD

604-875-2345, Local 5303

Kendra Tapscott, RD

604-875-2345, Local 7598

Kaitlin March, RD (Currently on Maternity Leave)

604-875-2345, Local 7594

Catherine Jones, RD

604-875-2345, Local 7594


Genetic Counsellor:

Simone Race

604-875-2345, Local 5333

 

Social Worker:

Sara Thiessen

604-875-2345, Local 7013 

 

Research

Nataliya Yuskiv (Research Manager)

Delia Apatean (Study Coordinator)

Maria Boldut (Research Assistant)

Maria Bleier (Research Assistant)

Gloria Ho (Research Assistant)

Hedi Chable (Research Assistant)



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SOURCE: Biochemical Genetics ( )
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