Inherited Metabolic Disorders Clinic
Working as a team for the benefit of
children and adults with special metabolic needs
Phone: (403) 955-7587
Fax: (403) 955-3091
The Inherited Metabolic Disorders Program is continuing to expand with increases in the numbers of active patients, the numbers of patients seen in clinics, the numbers of patients receiving various therapies such as specialty metabolic diets, pharmaceutical treatments, intravenous enzyme replacement therapies and the number of patients on ongoing therapy monitoring programs.
In October 2006, the program relocated to the new Alberta Children's Hospital site being located adjacent to the Clinical Genetics unit.
In November 2006, Dr. Aneal Khan arrived to augment our medical staff from 2 to 2 1/2 positions. Dr. Paddy Ferreira will continue on a half-time basis. As well, nursing has increased from 2 FTE (0.5 with external funding) to 3 FTE (with additional external funding), clinical support from 0.8 to 1.8 FTE, social work from 0.1 to 0.5 FTE, and clinical psychology from 0.05 to 0.5 FTE. Staff allotments for clinical dietetics (1.2 FTE), pharmacy (0.75 FTE) have remained the same.
Emerging new areas of clinical involvement include enzyme replacement therapy for treatment of lysosomal storage disease (LSD) (we are treating 22 patients with 5 different LSD's and supervising 728 infusions per year), urgent follow up of positive provincial newborn metabolic screening results (46 consults with full investigations were done, which led to the detection of 8 infants in the presymptomatic stage where interventive therapy will prevent progression to disability or early death).
New clinical initiatives started include: a percutaneous needle muscle biopsy service for diagnosis of metabolic and mitochondrial myppathies, a new service for assessment and treatment of bone disease using ExtremeCT bone scanning in patients with genetic metabolic diseases, a dedicated clinic for diagnosis and treatment of lysosomal storage disease, including both patients in clinical trials and patients receiving funding for treatment from Alberta Health and Wellness. A retrospective/prospective database identifying all patients in southern Alberta diagnosed with an inborn error of metabolism since the 1980's has been developed and will be expanded to include all such patients in Alberta in 2008-2009. The will be used for future epidemiological studies.
What are Inherited Metabolic Disorders?
Metabolic disorders are genetic disorders of biochemistry in the body that can cause harm to health and development. Prompt, accurate diagnosis and treatment can often minimize or prevent such harm. Treatment is often long-term.
What is the Inherited Metabolic Disorders Clinic?
We are a specialized team providing care for infants, children and adults from southern Alberta, southwestern Saskatchewan and southeastern British Columbia, who have special metabolic needs at any time during their lives.
We provide diagnostic and treatment services as well as support to patients and families who have or are suspected of having an inherited metabolic disorder. Most care is done at home in consultation with the metabolic team specialists. However, occasional clinic appointments and admissions to day treatment programs or to hospitals for diagnostic studies may be needed.
We hope to work together with patients, families and community resources to achieve and maintain the best health possible.
Who are the clinic team members?
Healthcare professionals involved in the care of you or your child may include:
- Doctor (Specialist or Medical Resident): reviews you or your child’s general health, does a physical exam and identifies necessary tests and treatments.
- Nurse: helps identify the services you or your child needs and coordinates care.
- Dietitian: assesses nutrition and growth and works with you to help with
special diets as needed.
- Social Worker: provides support to you or your family as you adapt to
the needs of your child.
- Psychologist: assesses and provides information on development and behavior.
- Pharmacist: provides information on medications to patients and families.
Who can answer my questions?
You can ask any of our team members about caring for yourself or your child. We encourage you to write down any questions and bring them to your clinic visit.
In addition to the clinic visit, we are available at other times for you to call or make appointments to discuss questions or concerns. Our clinic secretary will put you in touch with the appropriate health care professional to answer your questions and can be reached at (403) 943-7587.
Who receives the results of the assessments?
You will be made aware of all findings during you or your child’s visit. A letter will be sent to you and your doctor or your child’s pediatrician. This communication is important to the overall health care coordinated by your doctor. Our staff works with your family doctor or pediatrician, but we do not replace their services.
How long do clinic visits last?
Most clinic visits last 1 to 2 hours and will include visits with team members most appropriate to your needs.
How often will I or my child be seen?
Follow-up visits and tests are arranged as needed. If one is not required, you will continue to be seen by your family doctor or pediatrician.
Who pays for this service?
This health care service is provided through the Calgary Health Region and is funded by the provincial government.
Where is the clinic located?
We are located at the Alberta Children’s Hospital, at 1820 Richmond Road SW in Calgary, Alberta.
Our clinic is one of the services located in the DAT Center on the main floor. (DAT stands for Diagnosis, Assessment and Treatment).
A public parkade, limited street parking, cafeteria and other services are available for your convenience. A supervised play area (which needs to be booked in advance) is available, if necessary, for siblings. You can reach them at (403) 943-7997. For further information about support services provided by Alberta Children’s Hospital please contact Parent Services at (403) 943-7281.
Please note…
For us to provide the best service possible for all families, please make every effort to attend your scheduled visit. Our clinic has a long waiting list. If you are unable to attend an appointment. please call in advance to reschedule, so the appointment can be given to another patient.
We look forward to working with you or your child.
Dr. Robin Casey
Director, Inherited Metabolic Disorders Clinic
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