Having a child with a Rare Disease can be complicated. We spent so long with Freddie being Undiagnosed, having to try to explain his special needs, I realise that having a rare diagnosis leaves us pretty much in the same place.
Wednesday 28th February is Rare Disease Day. A day when we can focus on education of rare diseases and what that means for families like mine. In this vein I’d like to share with you all what it means for Freddie.
TUBA 1A is a protein gene and in short, these tubulin genes are needed during brain development for cell division and healthy brain growth.
People found to have TUBA 1A will have vast developmental differences. Our particular Super Hero, Freddie, is affected in the following ways.
It affected his brain development, first seen at my 20 week scan. The usual walnut patterns of grooves and folds seen in a typical brain are much smoother on Freddie’s. In some cases, the brain can be almost completely smooth. This can cause a wide range of difficulties and disabilities from near normal growth and progression to being life limited. There can be difficulty swallowing, seizures, failure to thrive and unusual facial appearance or dysmorphic features. We have been told that our beautiful boy has dysmorphic features. We just think he is super handsome.
Plus, a part of the brain called the Cerebellum is small and underdeveloped in Freddie. When this part of the brain is underdeveloped it can lead to intellectual disability, delayed overall development (GDD) and movement problems. It is responsible for voluntary movements including posture, coordination, balance and speech.
There are other areas of his brain which haven’t developed properly and these differences can also be seen in others with TUBA 1A so they all contribute to his difficulties. Plus, to add to this, he also suffered a stroke before birth. We think this is the biggest contributing factor to his much weaker left side.
Freddie has a smaller than average head (Microcephaly), he is only around the 2nd centile for head circumference. He has low muscle tone, a learning disability, communication difficulties including Developmental Verbal Dyspraxia/Apraxia, plus a neurological eye sight condition, a bileteral squint and bowel issues. He also needs more time to process what he sees and hears and to act on those things. Occasionally he is ignoring me on purpose but most often he is processing what is going on around him. He has poor balance, falls and trips regularly and poor coordination in most areas. These include walking, personal care, feeding himself and eating/swallowing.
He has also, in the last 18 months, started to show signs of suspected Absence Seizures. The Neurologist isn’t totally convinced this is what is happening, although we have been told to look out for epileptic activity due to the areas of his brain that are damaged. So, whilst we wait to decide he will be tested in the cardiology department for any irregular heart function.
Freddie has had to build many many new pathways in his brain to enable him to walk, talk, hear and eat. Every single little daily task you and I might take for granted has had to be learnt and programmed through hours and hours of therapy.
We taught him everything manually, hand over body and hand over hand. Everything from sitting and learning to use his hands and arms to prop so that he didn’t just fall backwards when sitting. Rolling over, how to move his legs to force a roll. Crawling, how to move each leg individually and how to get his body to push him forward. Plus, coordinating that with alternating his arms so that he didn’t just fall on his face. It happened a lot in the beginning. Getting into a standing position from sitting on the floor. We even had to teach him, hand over hand how to clap his hands together. Then came teaching him hand over hand how to hold a spoon and how to move it towards his mouth and get it actually into his mouth.
If you imagine an adult who has suffered a stroke and how they often need to re-learn all the skills they have lost, this is what we did for Freddie. This is what he has overcome and achieved.
In the beginning, the medical teams were not overly confident he would be able to do very much at all. Ollie and I, although frightened half to death it might be the case, never took that stance. We have always believed anything is possible. Even having read all the documentation available on TUBA 1A, I don’t focus on that. Freddie is unique and will go on to achieve much more. That is how we get through the days.
Don’t let anyone put limitations on your child. Advocate for them and give them every opportunity within your power. You are your child’s expert and the biggest driving force to their individual success stories.