Lennon was born in 2014. He was a healthy baby, weighing 9lbs and 22”long. There were no complications to his natural, unmedicated delivery. 

He was a perfect infant that didn’t even cry a lot. He was developing normally up to 3-4 months and mastered rolling over well. 

But, while most babies at 6 months are able to sit and start crawling, he could not. At this time I also noticed head lag. I mentioned this to his pediatrician at his 6 month check up. The doctor told me that boys develop slower, and we scheduled an appointment to be seen at 12 months. 

At 10 months he still could not sit up unassisted, craw or babble. But I managed to take a picture of him sitting for a few seconds. It was a big accomplishment. 

I was pretty concerned by the time his 12 month appointment came. He has developmentally about the same as a 4 month old. When I addressed all of my concerns with the doctor he told me “He is your second child and a boy. You are probably babying him too much, but we’ll seclude an appointment in 2 months to see if he’s not walking yet.”. 

At 14 months there was still no improvement. At this time, we were referred to a neurologist 

By the time we seen the neurologist, he was 18 months old. He still could not sit without falling over, he could not babble and he still could not craw. He could move around by rolling and he could stand up by holding on to something but his legs couldn’t move. 

The neurologist ordered a microarray and a FISH test. These are genetic test that can pick up a lot of genetic conditions. 

We waited a very long month for the test to come back and when they came back it showed nothing, but the doctor still believed he had something genetically wrong with him. 

At 21 months we moved states, and we had to get new doctors, which repeated the same genetic test. And, of course, they were negative too. The one test that did come back showing anything was his T3. It came back low. So, we were sent to the endocrinologist and he was put on levothyroxine. 

At age 2, Lennon was still developmentally around 5 months old, and Lennon had taken every genetic test that a doctor can order. All good of them came back normal. So Lennon, his father and my self had our entire genomes sequenced. They also came back with no mutations. We knew Lennon had a genetic mutation but they told us whatever he had had not been discovered yet, but they kept all of the information so if we ever needed to look at a gene they will always have it. 

This did not stop me from researching or trying to find a diagnosis. When Lennon was 4 he still could not walk independently or speak, but the only diagnosis he had was hypothyroidism. I asked his endocrinologist about the possibility of his hypothyroidism being connected to his intellectual and physical disability. She ran out of the room and another doctor came in. He seemed very aggravated I asked this question. He said ” You don’t have anyone else in your family like Lennon. It is an impossibility that his thyroid is connected to his other problems.”. I left that appointment very upset because that doctor treated me like I was stupid and I shouldn’t have had the audacity to ask that question. From then I never questioned any doctor about what he might have.

At age 4 1/2. Lennon started walking independently. Still very clumsily, but a huge milestone!

Lennon has had a new, wonderful endocrinologist for the past few years, but she always ran the same thyroid test that the previous doctor ran. 

Well during covid, we couldn’t get in her office, and Lennon went without his medicine for over a month. 

I took him to his regular pediatrician for a refill and a thyroid level test. The nurse didn’t know which test to run so she ran a complete thyroid panel, and sent them to his endocrinologist. She said the test didn’t make sense. It was like he had hypo and hyperthyroidism at the same time. 

Months later…. June 2021 she said “I have a crazy idea. I think Lennon may have a condition, but it is one in a billion chance that he actually has it, but it’s the only thing that makes sense”. 

After she explained the symptoms of this possible condition to me I immediately got mad at that other doctor. I was right this whole time! I am still mad at that doctor today. 

Fast forward to September the geneticist looked at Lennon’s and my gene that identifies MCT8 deficiency. The test came back that there was a mutation, but they had never seen it before, and they didn’t know if it caused his symptoms or not. 

The next step was to test my brother, with the idea that if he had it too then it didn’t cause Lennon’s symptoms. But, my brother’s test came back normal. 

This is when the mutation was sent to the researchers in the Netherlands. 

In order to find out if the mutation was pathogenic, they made new cells and gave them the mutation. 

The doctor said when he tested the new cells they were so slow that he was surprised that Lennon could even walk. He said after testing the cells, he could definitely diagnose him with MCT8 deficiency/ Allan Herndon Dudley syndrome. 

In 2024 Lennon was accepted into a accessible school. He also gained access to a medication that improves symptoms relating to the syndrome.

He has improved in every way. He eats more, sleeps better, has better endurance, and seems to understand more clearly. 

He enjoys his new school, where all activities and playgrounds are accessible to him. He even gets special equestrian therapy weekly