Information Living with thyroid disorders Joshua's story - MCT8 deficiency Joshua was born on 23 August 2014 by forceps delivery. The doctors queried sepsis and Josh and I stayed in hospital for a further five days on antibiotics. Joshua had heel prick tests done over the five days as they investigated the infection but was discharged with no further follow up. He started smiling around 10-12 weeks old. I noticed from 7-8 months he had poor head control and floppiness but was told boys are slow at developing. We saw a health visitor and Josh was referred to the hospital where he had two MRIs and a number of blood tests which all came back as normal. The first MRI after his first birthday showed low myelination and two cysts that were symetrical on the frontal horns of his brain. The second MRI 12 months later showed a small improvement in the myelin yet the cysts were still the same. There were no problems with his hearing or eye sight and he has regular check ups for his eyes every four months. So as it stands from September 2015 to present Josh has a working diagnosis of cerebral palsy. It’s not clearly explained but he’s been put under this umbrella because of his symptoms. Joshua sees the community care paediatrician, a physiotherapist every six weeks, a speech and language therapist every two to three weeks, and an occupational therapist whenever something is required. Joshua had an EEG before Christmas 2016 and that came back fine. He has no issues with seizures or epilepsy. Another blood test was requested by a neurology consultant at the Children’s Hospital due to abnormal thyroid readings. As it turned out these results were abnormal again which brought us to his diagnosis of a thyroid issue regarding the TF3 transporter. Joshua cannot sit up, he can roll from side to side when he wants to but he cannot crawl or walk. His head control isn’t great and at times he can be quite floppy. Joshua has begun babbling and always making noises but there are no words or copying sounds. His hand coordination is poor but we (the physio and I) are working on mid line and bringing the hands together. A splint was fitted on in February 2017 for his tight right hamstring. Josh has been diagnosed with an extremely rare condition, MCT8 deficiency (also known as Allan-Herndon-Dudley Syndrome or AHDS). He is part of a Clinical Research Trial at Cambridge and is helping them to establish new facts and reach new conclusions. The TRIAC medication on the clinical trial seems to be working and leveling out all his bloods so we are hoping for a change within Joshua’s development. He is doing really well and getting the love and support from the playgroup at his Special School who are working brilliantly with him and exploring new avenues of high sensory activities and equipment which Josh is responding really well to.