Tag: genetics

My Sons TUBA 1A Explained For Non-Scientists

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.

www.raredisease.org.uk

www.undiagnosed.org.uk

 

 

 

 

 

The Day We Received Freddie’s Rare Genetic Diagnosis

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 yesterday. 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 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. A Rare Disease is defined by the European Union as one that affects less than 5 in 10,000.

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.

It is always a good idea to have two of you attend the results meeting. Often what your 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. Occurring in Freddie for the first time. He carried that stress and sadness unnecessarily.

Yesterday, 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 adult hood. I have to just keep everything crossed that as more knowledge is formed, nothing presents itself with a life limiting label.

Why We Went On To Have Two More Children After Having A Child With Special Needs

A friend asked me this weekend why we decided to have three children? There was no sarcasm or malice in the question. Just simply wondering and genuinely interested. He knows that Freddie has Additional Needs and wondered how we cope?

Sometimes ignorance is bliss.

When we found out at my 20 week scan that Freddie’s brain wasn’t developing correctly and after all the scans and tests that followed until his pre-term birth, our focus was just getting him here safely. We had no diagnosis, didn’t have a clue what the future would hold and had never really thought about anything genetic. However, we had always wanted two children and I think that because we could ‘hide’ Freddie’s needs when he was a baby and pretend to ourselves that he was going to be ok, we decided to go for it pretty quickly. Living in denial was probably quite blissful at the time. I became pregnant with Bella when he was only nine months old. Perhaps if we had left it longer, we might have made different decisions? I don’t know. It was around this time that the hundreds of appointments and therapy sessions really kicked in. I was one exhausted pregnant lady. We got through it though and were so excited to have our beautiful little girl.

When Bella was around three months old, we were invited to attend genetics counselling. When I look back, we were so naive and innocent and actually right in the centre of total chaos. The Dr asked how our new baby was, did we think she was developing typically and did she have any dysmorphic features? Time just stood still. I can recall every prickle of fear as if I were in the room now. We honestly never considered for a moment that Freddie’s needs could be hereditary and we also didn’t know there was such as thing as De Novo Genetic changes that occur. No-one had ever spoken of this other than the more well known syndromes they tested for regularly. What a shock that was.

We went onto the DDD study and waited.

During this time, I never threw away any of their baby things. Hoarded everything. We were only having two so what was I thinking? I called the geneticist a number of times hoping the results would be round the corner. Nothing. Our main concern was finding an answer to enable us to give Bella all the information she would need for when her time comes to be a mum. If that is the path she chooses. We also wanted (and didn’t want) to know if Freddie’s condition was life limiting.

As Bella was approaching 18 moths, I realised she needed back up. I don’t have any brothers or sisters and as I’ve experienced more of life’s riches and heartbreaks, it would have been good to have that back up. So grateful I have Ollie.

We needed safety in numbers.

I didn’t  want Bella to feel pressure when she is older, perhaps when Ollie and I are no longer here. It’s tough managing these challenges alone.  Although risky, without a diagnosis, we weighed up all the options and all the solutions open to us. After a lot of discussion, we decided to go ahead and try for a third baby. Freddie’s rare diagnosis of TUBA 1A came after Jago was born.

I’m not really sure how Jago will take it if he realises he was back up? I’m hoping he will know he was born from a deep place of love for our whole family unit. He has made us complete and we adore every inch of him as we do Bella and Freddie. We are extremely lucky to have three children. I hope they remain close as they grow, lean into each other and realise they now have safety in numbers.

Being Undiagnosed. Was it my fault?

For what seems like forever, we have lived in limbo.

Freddie is my first child and during my pregnancy, which should have been exciting and restful, we found out at my 20 week scan that his brain wasn’t developing typically. To say we were devastated is an understatement. This marked the first day of limbo and uncertainty.  We had a foetal scan every other week at the city hospital, Microarray, amniocentesis, bloods and goodness knows what else. Everything came back negative but each week the scans showed more and more problems for our sweet baby. The doctors said at this stage they could only really tell us what it wasn’t and not what it was. We didn’t know you could have a disability without a name, something undiagnosed. But then, why would we?

We met with a Paediatric Neurologist who answered as many of our questions as he could but again he didn’t really have any answers, just that our baby would potentially have developmental difficulties of a mild to moderate nature. Although heartbroken and frightened, we decided to take the word ‘mild’ and run with it because the alternative was too awful. The consultants had on occasion offered us a termination but what shocked us most was that they could offer it, by panel, up to 39 weeks gestation.

Freddie was born at 35 weeks and he was so small. In fact, last week whilst my husband was clearing out some of the children’s old clothes he came across a tiny hand knitted cardigan which had been given to us by SCBU where we spent a week after his birth. All the tiny clothes we had bought were still too big. On this particular morning, I was feeling really happy and rushing to get the children out of the door but this totally floored me and floods of tears ensued.  All the memories of those early days and all my feelings of love and pride for how far he has come but how painful the process has been and the courage we have had to find was all wrapped up in this tiny cardigan. (Really must invest in some waterproof mascara). Once I’d sorted myself out, I took a minute and tried to focus on the positives of his progress and the progress of our family unit. I’m acutely aware it could have so easily broken down but so far so good. We have worked hard on our marriage and our family and we do of course have three children now which is wonderful.

The one thing that never went away though, was the feeling of blame which I have carried around with me for a long time. Was it the the bottle of Prosecco I drank the night before I realised I was pregnant? Was it the massage I had or the products I used or was it the flu jab I naively had in early pregnancy, without really knowing the implications? It’s been difficult not to dwell on it. We did receive a diagnosis from the DDD study https://www.ddduk.org earlier this year which has taken some of the pressure off but so far, Freddie is one of only 5 known in the UK with the same gene variant. So you could say we are still Undiagnosed to a degree, as the European Union states that a rare disease is defined by one that affects less than 5 in 10,000 of the general population. Other than having the cause of his difficulties and knowing it is De Novo in him and not hereditary, we don’t have much else and no prognosis. Even with the diagnosis, I still wonder if Epigenetics was at play? Im quite sure no medical professional is ever going to discuss this with me seriously but you can’t help having a gut feeling about something. Parenthood is filled with opportunities to feel guilt so for all you parents out there walking a similar path, I hear you. I am now in a place where I practice focussing on the here and now and the future and not the whys and hows because I know nothing will change by knowing. Its the only way forward to having peace. I do occasionally revisit Dr Google and the Epigenitics question that hangs over me but mostly it is now a story running in the background of my mind. If you can get to the point where it is quiet dialogue whispering in the background and not shouting at you, then you can claim some peace and let go of the guilt which shouldn’t really be there.

You can also find me on FaceBook. https://www.facebook.com/Aimeemannspecialneedsmentoring