My name is Andreas-Rares and I’m 2 years old. About a year ago I was diagnosed with a syndrome called Allan-Herndon-Dudley and that chanced my world irreversibly… But let’s start at the beginning. I was born on a cold winter morning in a strange place called hospital where people wear white robes. I was confused […]
8 Rare Parenting Lessons I’ve Learned the Hard Way Learning is a difficult process, but I’m a good student. I need to be. I have a child with Allan-Herndon-Dudley syndrome. What? You’ve never heard of this syndrome before? Don’t worry — neither had we until our son was diagnosed. At that moment, learning became a […]
When Kids Ask What’s ‘Wrong’ With My Son Who Has Allan-Herndon-Dudley Syndrome Andreas-Rares Sometimes children come and ask me what is “wrong” with my son. How come he is not running and playing with the other kids? I thought long and hard of what the answer to that question should be. Children understand things that […]
When our baby boy Dillon was born, both me and my husband were super excited. We were nervous but happy. Dillon When our baby boy Dillon was born, both me and my husband were super excited. We were nervous but happy. Everything may be a challenge but we took some major role changes with such […]
Susan D. Fidek is the mother of Jonathan who has MCT8. Here she shares her many years of experience and wonderful advice on how to care for your child with disabilities. I’m a special needs Mom with 32 years of experience I have seen a lot of new parents ask why is my kid crying, […]
Jaeden was born in March 2009. He was a healthy baby boy with no initial issues, even scoring an APGAR score of 7 when he was born. At three months of age, Jaeden started to present with irritability, lack of eating and lack of weight gain, inability to hold his head up (his head would […]
I was in denial because I was unprepared to have Zyggy, because we did not have health insurance and we were very tight in our economy but God had sent him to us for a reason and we were determined to make the best out of our situation. We love him just as much as […]
How does thyroid hormone (TH) find its way into the brain? Although it has been known for a long time that this crucial for normal brain development, the exact molecular mechanisms involved in TH transport in the brain have remained elusive until recently. Early studies showed selective and saturable accumulation of TH in particular brain regions, suggesting that active transport processes are required forTHentry across the blood-brain barrier (BBB) and into brain cells (1). The discovery that TH transporter proteins located in the plasma membrane are required for cellular entry of the hormone has advanced our understanding of TH physiology. Thus, TH transporters mediate transport not only across the BBB but also into each individual cell of the brain.
The mechanism of thyroid hormone (TH) secretion from the thyroid gland into the blood is
unknown. We used the Mct8 deficient mouse (Mct8KO) to determine if MCT8 has a role in this
process. While MCT8 is known to transport TH into cells, several observations suggest that it also
controls TH secretion: (1) Humans and mice deficient in MCT8 have a low serum T4 level, which
cannot be fully explained by increased deiodination; (2) Our preliminary data show that TH
secretion in Mct8KO mice is delayed following the release of endogenous hormone suppression with
methimazole and perchlorate; (3) MCT8 is localized at the basolateral membrane of thyrocytes.
RESULTS: Thyroid glands of Mct8KO mice contained 2.1-fold and 2.3-fold more free T4 and T3 than
wild-type (Wt) mice (P<0.001). This was independent of deiodination as comparable increases were
also found in Mct8KO mice that lacked the types 1 and 2 deiodinases.
This is the fourth newsletter in our series of newsletters on the AHDS or MCT8 deficiency. In this edition, you can read about the progress of the Triac Trial, the genetic basis of the AHDS and much more.