Thursday 28th February 2019 is Rare Disease Day. Freddie was diagnosed at around age four with a super rare disease.
I wanted to share some of our story with you so that you can get to know me and Freddie a little better. Having a baby without a diagnosis to explain their disability can be frightening and with around 6,000 children born each year in the UK without a diagnosis, I think it’s really important to share our experiences. For a long time, I thought we must be the only family in this situation. I searched high and low for another Freddie, without success. Going through genetic testing can be frustrating and frightening but sometimes it can bring joy too. Joy from finding your Tribe.
Rare Disease day is an incredibly important day for my family and for families like mine. It’s main goal is to raise awareness amongst the general public and decision makers about rare diseases and the impact they have on people’s lives.
A disease or disorder is defined as being rare in the European Union when it affects fewer than 1 in 2,000 people and in America when it affects fewer than 200,000. In the EU, as many as 30 million people may be affected by one of over 6000 rare diseases.
Rare disease day a global initiative to call on policy makers, healthcare professionals and care services to action better coordinated care for those in the rare disease community. 2019 is the twelfth international Rare Disease Day coordinated by Eurodis. Having a rare disease can make it very difficult to explain why you or your child has the difficulties they have. You have no prognosis and can be regularly caught unawares with new symptoms. Sometimes due to the lack of diagnosis, parents struggle to get Professionals to listen and often their concerns are disbelieved, which is a huge challenge and adds to the stress factor. Freddie had no diagnosis to explain his disability, from my 20 week scan up until he was around four years old. We were lucky to find an answer through a genetic study. Not everyone finds an answer!
A ‘dis-ease’ Of The Body
I always found it difficult to say the word ‘disease’. It sounded so victorian and made me think of illnesses like the bubonic plague or Cholera. In actual fact, whilst attending some training with SWAN UK, (the only support network for families of children without a diagnosis to explain their disability and needs) a representative from Genetic Alliance suggested we think about it as more of a ‘dis – ease’ of the body. When you look at the dictionary definition it talks about a disorder of structure or function, which makes total sense.
Due to Freddie’s diagnosis, TUBA 1A, his brain does have a disorder of structure which results in how his additional needs present.
Dictionary result for disease
- a disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury.
If your child is Undiagnosed and you are looking for support, contacting SWAN UK and Genetic Alliance might really help you. It was a total game changer for me.
I’m going to take you back a bit in the story before sharing the present day with you.
Getting The Call
You know that moment when you receive a call from your child’s professional and life is at a momentary stand still? I know you know it. The slight panic, the billions of story lines running at high-speed through your head about why they would be calling you. The fuzzy feeling, slightly sick and hopeful all at the same time feeling. Those are the feelings I had when we went to our first Genetics consultation, when we received a diagnosis and when I got a call from the Genetics team a good three years after diagnosis. Totally out of the blue. Totally caught off guard.
Looking back, when we had Freddie, we were so naive about his disability. Even though we were told at my 20 week scan that our baby’s brain wasn’t developing correctly and we had asked tons of questions and freaked ourselves out by Googling all possibilities, it never ever occurred to us it could be something genetic.
I’m fairly sure no-one had ever suggested genetics, especially because all the tests and scans were coming back negative. That term just wasn’t a part of my vocabulary.
At our first Genetics counselling session, our second child Bella was still a tiny baby. We were asked if we thought she had any differences or difficulties? Was she developing as expected? I can still feel the cold sweat shock as I let those questions sink in. Could it be hereditary? Could we have unwittingly charged ahead with a second child without all the information to tell us if she would also have special needs? From that point on, every milestone she approached was met with caution and relief in equal measure. She was so speedy to walk and talk. She was and still is super independent.
Our Two Biggest Concerns
Our two biggest concerns from that meeting were, would Freddie’s condition be life limiting for him and could Bella be a carrier? We would need to know this to give her all the information she needs as an adult to make decisions about having a family of her own.
Our biggest fear is, will a diagnosis come with a life limiting label? I just can’t bare to go there in my head but I am a pragmatic person and I crave knowledge so I need to know. I just don’t want to know.
We had been on the DDD study for a couple of years. To be honest, I never thought we would receive a diagnosis because every other test had come up negative.
The day we received the call from our Geneticist to invite us in to discuss their findings was a shock. I had been in regular contact with them, asking for any result updates. Not because it would change very much for Freddie in the present but because we wanted to try for a third child. This time we wanted to do it with a full bank of knowledge. There were no answers and we were getting further away from the time we would like to try. We took a leap of faith and went ahead. By the time that call came through, Jago was almost 12 months old.
That sick, swishy feeling came over me again. They had a diagnosis!
We then had to wait about three weeks to meet with the Doctor in person at the hospital. I tried so hard not to think about it. I couldn’t change the outcome or our choices so I thought, it is what it is and we will deal with it.
Our Geneticist was fantastic. She was calm and clear and gave us as much information as she could. We had quite a lot of questions but had we had more time, we would have asked more. It was exhausting.
Freddie is Rare.
Freddie has been diagnosed with a rare genetic condition. TUBA 1A. At the time of receiving the diagnosis, there were only a handful of other children known to have TUBA 1A in the UK.
One of those children was deceased. I don’t know if that child had other medical issues or not. I don’t know the reason for death. I just know, I now have to try to keep my head when this knowledge creeps back into my conscious mind. Practically talking, Freddie is medically healthy and although there are issues, they don’t have any life threatening concerns right now. That is how I want it to stay.
Attending The Genetics Meeting
It’s always a good idea to have two of you attend the results meeting. Often what you hear is a version of what was actually said. Thankfully we were given some paperwork and a letter confirming the outline of the conversation. It turns out that Ollie heard something slightly different to me. We were told it was genetic. We were told they had looked at mine and Ollie’s genes too. There were no correlations with me. There were some gene changes in Ollie that Freddie shares BUT they are NOT anything to do with his diagnosis. Ollie just heard the first bit. For around two months he never said a word to me. He spent that time thinking it was because of him. It was only when we read the diagnosis paper together that he realised it was a De Novo change. Non hereditary and occurring in Freddie for the first time. He carried that stress and sadness unnecessarily.
A few years after that meeting and receiving the news, I was caught totally off guard whilst chatting to a friend, the phone went. It was our geneticist. The slight panic, the billions of story lines running at high-speed through my head about why she would be calling me. The fuzzy feeling, slightly sick and hopeful all at the same time feeling. Those are the feelings I had again. Was she going to say they had found a connection to his diagnosis being life limiting?
Thankfully, the call was to say there have been some more children diagnosed and the DDD Study want to write a paper in conjunction with the various Geneticists around the country. There is so little known and so little literature about TUBA 1A that this would be the first real collection of data and information to help future families. Would we be interested and happy to have Freddie included in the paper? Yes. A thousand times yes.
If this knowledge had been available when I was pregnant with Freddie or when we had him it could have provided so many unanswered questions. If we can help another family in the future not to feel as alone and isolated as we did, it will be worth it.
I still don’t have any answers about Freddie’s prognosis as he marches ever closer to his teenage years and adulthood. I just have to keep everything crossed that as more knowledge is formed, nothing presents itself with a life limiting label.
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.
This year, Rare Disease Day falls on Thursday 28th February (that’s 2019 if you’re listening in the future). 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 were 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 severe learning disability, communication difficulties including Developmental Verbal Dyspraxia/Apraxia, plus a neurological eyesight condition, a bilateral 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 few years, 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. He has been tested under the Cardiology team and discharged with no findings so we are back to the Neurologist and still no further forward.
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.
In Next week I am going to be talking about anxiety and Self Care for parents of children with Special Needs. It’s such an important topic and one that needs regular attention.
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Thanks so much. Catch you next week. xx