Support Group Contact Listings

Susan D. Fidek: My son is Jonathan Fidek age 7. He was the first boy properly diagnosed with the MCT8-specific THCT Deficiency in summer of 2002. We have been threw many ups and downs over the years due to his condition. I would like to share my experiences with you. I am very pleased to finally be part of a support group and offer my support. We live in Saskatchewan, Canada. You may contact me by submitting your message here.

Lisa Davis: I am from Oklahoma I have three children 2 girls and 1 son. My son is affected by the MCT8-specific Thyroid Hormone Transporter Cell Deficiency and my 2 daughters are carriers of the disorder. Brandon is the tenth son in three generations to be affected by the disorder. I act as one of the 2 parent advocates for gene testing for the University of Chicago. I am helping to create this website in hopes that we can bring a support base to other families with the disorder. You may contact me by submitting your message here.

Nicola Cowan: I am from the United Kingdom. I have an older daughter and Aaron who is 4 and another girl on the way. He also has a mutation in his MCT8 gene. I am a mosaic carrier, which means the gene change is not present in all of my cells and therefore the gene change started in me around the time of my conception. I am happy to help in any way I can with this support group, as I am sure there are lots more of us mums out there who could do with someone to share their experiences with. Meeting other mums has been a great help to me. You may contact me by submitting your message here.

Medical Director:

Samuel Refetoff, M.D.
Director, Endocrinology Laboratory
Phone: (773) 702-6939
Email: refetoff@uchicago.edu
Website: http://www.uchospitals.edu/physicians/physician.html?id=250

Genetic Counselor:

Melissa Dempsey, M.S.
Certified Genetic Counselor
Phone: (773) 834-1606
Email: mdempsey@bsd.uchicago.edu

The University of Chicago Genetic Services Laboratories

Toll Free: 888-UC GENES
Website: http://www.genes.uchicago.edu/