A baby boy from Scotland has been diagnosed with an ultra rare condition that affects less than 100 people in the world. The baby, named Louie Smith, was born 12 weeks early and suffered from frequent episodes of apnoea, a sudden stop in breathing. His parents noticed that his hands and back would go rigid during these episodes and decided to seek medical help.
What is Louie’s condition?
Louie’s condition is called THRA-related congenital hypothyroidism. It is a genetic disorder that affects the thyroid gland, which produces hormones that regulate metabolism, growth and development. People with this condition have low levels of thyroid hormones and may experience symptoms such as poor growth, delayed development, low body temperature, constipation, dry skin and hair loss.
Louie’s condition is caused by a mutation in the THRA gene, which normally helps the thyroid gland produce enough hormones. The mutation affects how the gene is expressed and leads to reduced thyroid hormone production. The mutation is not inherited from either parent, but occurs randomly during the formation of the egg or sperm.
How was Louie diagnosed?
Louie was born at Aberdeen Maternity Hospital on September 9 last year. His mother, Nancie Smith, went to the hospital with back pain and a possible urinary tract infection. She was told that she was in labour and delivered Louie just hours later. He weighed only 3lb 7oz (1.6kg) at birth.
Louie’s parents soon realised something was wrong with their son as he suffered from frequent apnoea episodes – a sudden cessation of breathing that lasts for at least 20 seconds. They noticed that his hands and back would go rigid during these episodes and wondered if he had a neurological problem.
They took Louie to various specialists who performed several tests on him, including MRI scan, blood tests, CT scans and x-rays. However, none of these tests could explain his condition or provide a definitive diagnosis.
The doctors then asked the parents to undergo genetic testing after they noticed something unusual about Louie’s eyes – they were not aligned properly. They suspected that this could be related to his apnoea episodes or his growth problems.
The genetic test confirmed their suspicions – Louie had THRA-related congenital hypothyroidism due to a mutation in the THRA gene. This was an extremely rare diagnosis – only six people in the UK and 30 people in the world had been identified with this condition before.
How is Louie treated?
Louie is currently receiving treatment for his condition at Aberdeen Royal Infirmary. He takes daily medication to replace his missing thyroid hormones and prevent complications such as heart problems or brain damage. He also has regular check-ups with his doctors who monitor his growth and development.
Louie’s parents are hopeful that he will grow up healthy and strong despite his rare condition. They are also grateful for the support they have received from their family, friends and health professionals who have helped them cope with their son’s challenges.
They have also raised awareness about THRA-related congenital hypothyroidism by sharing their story on social media platforms such as Facebook and Twitter. They hope that by doing so, they can help other parents who may be facing similar situations or who may be unaware of this condition.