Myles T's quilt    (Quilt Closed)

Child Interests

My son is non verbal so unfortunately cannot tell me his interests or favourite colour. I can only go from guessing - when excitement is expressed on his face. I have not recognised any other cartoon character he is like this with. In terms of colour I would please ask it is made as colourful as possible! Myles loves to explore and he is very determined. He loves sensory toys, bubbles balloons and things that vibrate. He also has a cactus that copies everything that is said. He enjoys bouncing up and down to express interest by this particular toy.

Biography

Myles had a traumatic birth and unfortunately didn’t breathe when he was born. Luckily intervention eventually worked so ICU wasn’t needed. He required chest compressions and oxygen.

At the newborn examination the midwife noticed Myles had talipes and heard a clunk in his left hip. Hours later he also failed his newborn hearing test.

2 weeks after we’d been home I received a letter to take him to xray and a letter to attend audiology for a hearing test. The X-ray revealed he had left hip dysplasia and he failed the second hearing test and was immediately diagnosed with severe bilateral hearing loss. He was aided by 6 weeks old and had his first hip treatment at 8 weeks. All hip treatments including operations, harness and brace sadly failed and he developed something called Osteopenia.

I began to get suspicious when by the age of 1 Myles didn’t talk, didn’t stand, couldn’t crawl properly or kneel. He was diagnosed with global developmental delay and hypotonia as he was extremely unsteady and wobbly. The paediatrician decided to perform a mri scan. This revealed he had hypomyelination across his entire brain and hypoplasia of his corpus callosum and brain stem. They said they’d repeat this in a year to check for change. He still by 2.5 years of age, wasn’t standing, walking or talking.

They repeated the mri a year later and unfortunately the exact same things were shown except this time he had atrophy of his cerebellum too. They performed a microarray test for fragile x,cmv virus, all clear. Then off the basis of his MRI’s they did targeted genetic testing for Pelizaeus-Merzbacher disease, mitochondrial disease and TUB4A leukodystrophy. All again, were clear. I had a very long time to wait for all results and I was getting impatient so I did thorough research into leukodystrophy and my gut was telling me he had 4h leukodystrophy. I contacted the 4h expert and asked her to look at his MRI’s. She did and confirmed it looks like 4h. She even went as far as telling me which mutation … she guessed right.

The results came back early December 2021 and he was diagnosed with 4h syndrome leukodystrophy POLR3B type. Recently I met with a leukodystrophy neurologist in Leeds who answered my question as to why Myles appears so different to other families with this disease… (he still has no mobility) he put it so simply.. that because Myles has a terminal brain disease on top of severe hearing loss and hip dysplasia these are huge barriers and setbacks for Myles to achieve mobility and to be verbal.

Myles has also been diagnosed with hypodontia (13 missing teeth) this is part of 4H. He was born without a lingual frenulum and born with 6 teeth. In other words he was born unique. He was diagnosed with spasticity of both legs at age 2 and is medicated with baclofen. I recently discovered he also has immunology concerns (unrelated to 4h). He was found to have no protection against tetanus so he had a booster for this but unfortunately made no difference. I await to meet an immunologist again to discuss this with me.

Myles uses a standing frame for 1 hour a day for physical therapy and has a lot of specialists involved in his care. He has been accepted into Hope House hospice.

Patterns

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