Category: Rare Disease

SWAN UK Adventures

Hi, I’m Aimee and the Parent Representative for SWAN UK in Warwickshire. Today my Husband Ollie, swan Freddie, Bella, Jago, Grandma, Teddy the dog and I spent an amazing day at the Cotswold Wildlife Park with huge thanks to SWAN UK.

This is my third year arranging this trip and it has been so much fun. The fantastic Miriam Ingram from the SWAN UK office came along too and joined the madness of our family. We even made her come on the train with us. Managed to squeeze all seven of us into the one carriage along with the dog and a balloon.

It was so great to see lots of familiar faces and also to meet some new SWAN UK families. We got a great photo of us all.

We saw Zebra, Rhino, Giraffes, Meerkats, Cheetah’s and Lions plus some brilliant monkeys all chatting to each other and making a total racket and many more fabulous animals.

The children loved the play area, we had a picnic and ice cream. There is always so much to see at the Cotswold Wildlife Park, the layout is accessible and fantastically there is a Changing Places.

On the way home in the car, Ollie asked the children what their favourite animals were. Freddie chose the lions, Bella chose the Giraffes because they tried to lick her hand from the viewing platform and Jago chose the monkeys.

Thank you to everyone who came. I hope you all enjoyed yourselves and hopefully I will see you again soon.

 

SWAN UK Blogger

Join our Tribe of Empowered SEN Parents

Sign up for my new format Mentoring Newsletter.

Blogs straight to your inbox plus articles, courses, offers and exclusive information.

The Dreaded Dentist

We have been taking Freddie to the Dentist for quite a few years now and for the past two we have been seeing a really great lady to understands Freddie and has loads of patience for him Bella and Jago love going because they get a sticker. Ah, the holy sticker. I wonder how many years this will bribe them in to going. It’s like the bribe, sorry the joy, of getting a lollipop at the hairdressers.

Freddie has always hated it. Seemed worried and anxious. I think with his sensory processing issues, he just hates the purple latex gloves and you have to be pretty quick getting a look in there before his teeth clamp shut and you risk loosing your finger. About a year ago, his SALT from Skybound suggested we take the Talktools sticks with us to insert into his mouth to hold his jaw open. That certainly helped to get access to look at his teeth but it didn’t seem to help him be any less stressed about the situation.

Anyway, with perseverance, kindness from the Dentist and lots of prepping him, this time was a total success. I definitely think it was partly to do with the fact they had a fancy new piece of technical equipment. It is a camera which looks into the mouth and shows the images on the screen in-front of you. Tech obsessed Fred was very happy. Plus, we let him take his ball with him this time.

This was such a positive result and milestone. One I never really expected us to get to. Freddie surprises us every day. xx

 

SWAN UK Blogger

Join our Tribe of Empowered SEN Parents

Sign up for my new format Mentoring Newsletter.

Blogs straight to your inbox plus articles, courses, offers and exclusive information.

The Heart or the Head

Freddie got hooked up again today for another ECG before we got the results of him wearing a heart monitor for three weeks. That was eventful. For a boy who loves to press buttons, we weren’t sure how many of the readings would be real and how many would be Freddie just pressing the button. (He is only smiling because Ollie gave him his phone. He hates the sticky pads so anything to distract him.)

 

 

For two years now he has been experiencing, what look like, absence seizures. His Neurologist isn’t convinced because although they look like it and sound like it, they don’t happen often enough. The thing is though, nothing with Freddie has ever been straightforward black and white. I’m grateful it’s so sporadic and not affecting him all day every day but we really do need to find out what is going on. The parts of Freddie’s brain which haven’t developed typically, mean that we have always been advised to look out for epileptic activity. It’s so hard to know what we are seeing.

Anyway, the Neuro wants to rule out anything untoward going on with his heart before we have any more discussions.

Obviously, we don’t want him to be having absence seizures but if that’s not what it is. Then what’s going on?

So, after a fairly frustrating appointment (that’s a story for another day) cardiology are as certain as they can be that it’s nothing heart related. That’s a relief but now we continue without an answer. Back to the Neurologist we go. xx

 

SWAN UK Blogger

Join our Tribe of Empowered SEN Parents

Sign up for my new format Mentoring Newsletter.

Blogs straight to your inbox plus articles, courses, offers and exclusive information.

My Star of the NHS. I Salute You.

Dear Nicky

As we approach the 70th anniversary of the NHS, I want to thank you so much from the bottom of my heart.

Being told at my 20 week scan that my baby would be disabled but no one knew how severely, was totally shocking. Being sent home after the birth with no support and a ‘wait and see’ attitude from everyone around was frightening.

It wasn’t until we moved, when Freddie was around nine months old, that we met you Nicky. We had seen around four different Health Visitors between birth and nine months and none had really shown any support or understanding or in fact even read his notes. I hated those baby weigh in clinics. Then we moved and found someone who went the extra mile at every meeting and every phone call.

You made such a huge impact on our lives.

You read his file, you researched, you listened, you had experience of children who weren’t developing as expected. When you have no diagnosis for your child’s disability, it’s hard path. I remember Ollie and I going to the clinic to discus his nine month review. We started the questions and couldn’t answer yes to a single one. We felt so defeated and all the positivity (denial) we had forged on with was crushed. About half way though, it was clear we wouldn’t be able to answer yes to any of the questions. Nicky, you said we would leave it and not bother with it any more. Freddie was on his own trajectory so let’s focus on what he needs. Up until this point, no one had mentioned Physio, OT, play therapy, Portage or SALT. Bare in mind we had a paediatrician, four health visitors and the GP plus we had spent time in SCBU. We were pretty clueless.

 

You were the first person to really get it. You set up the referrals to the various therapies to support Freddie. If we hadn’t moved house and met you, I truly believe Freddie would have been a lot further behind in his development than he is now.

Thank you for caring, going the extra mile and making such a positive difference to his life.

Aimee and Family. xx

 

SWAN UK Blogger

Join our Tribe of Empowered SEN Parents

Sign up for my new format Mentoring Newsletter.

Blogs straight to your inbox plus articles, courses, offers and exclusive information.

 

 

Being Rare Is Never Black & White

Yesterday we took a day trip to Birmingham Children’s Hospital for our first appointment in Cardiology. Freddie’s Neurologist isn’t convinced that his suspected ‘absence seizures’ are neurological. As usual, nothing is straight forward for my little man. He has never presented anything in black and white and things always seem to need lengthy investigation. Although the physical symptoms look like absence seizures, the Neurologist isn’t convinced due to the frequency not being high enough in his book. This means we are now going down the Cardiology path. We need to rule out his heart being responsible.

I’m no doctor, but my gut instinct is that is it not his heart and that it is neurological. We would rather know for sure though than make an ‘educated’ guess and be wrong. His heart is physically in good condition which is excellent as he did have a hole in the heart before he was born, so that’s a positive. He did really well with the tests considering he has a few sensory aversions. Historically, if you had shown him a plate of jelly or a ball of play dough it was game over. Crying and shaking would ensue but having worked on this over the years he is in a better place. He tolerated the stickers and wires for the resting ECG which came out fine and he did really well with the jelly on the Echocardiogram (ultrasound) test. The next step is another non-invasive test where Freddie wears an ECG arrhythmia detection device which can be discreetly used to screen for infrequent and/or asymptomatic arrhythmias including those that occur during sleep for up to 32 days. “GOOD LUCK WITH THAT” was my response. Freddie is going to be pressing the buttons night and day. We do have to try though so that we can capture what the heart is doing when he has an absence so we will give it a go. If it doesn’t work, we will go to the next level.

Freddie was very excited to see his heart on the screen and insisted on taking a photo of it.

Ollie couldn’t come yesterday due to work commitments and as I hate driving in Birmingham, my Mum came with me for support and her husband drove us in which took the pressure off a bit. The only thing to do after a visit to BCH is to get a treat from the Boston Tea Party.  We always take Freddie here if we have time. He chose a huge slab of chocolate brownie and I only managed to steal a tiny square. Made him happy though. I would like to pretend I was virtuous and just had a mineral water but it would be a lie. A huge Latte and a big piece of carrot cake went down nicely thank you very much.

This is the start of a whole new language and set of terminology that I need to learn and many more appointments to come. Will just try to ensure cake is the pay off after each visit.

 

 

Sign up for my new format Mentoring Newsletter.

Blogs straight to your inbox plus articles, courses, offers and exclusive information.

 

 

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.