Month: January 2018

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.

Freddie Is Rocking The Human Connection

A few days ago, I posted a video on my Facebook page from Special Books By Special Kids. What they talked about immediately hit me. It was about how everyone, no matter if they are neuro-diverse  or otherwise have a desire for connection and community. I shared it because he is a fantastic example of a fantastic human being. He is patient, kind and open.

It really wasn’t until a couple of days later that I was thinking about what his friend/student was doing. He talked about how he was asking questions to which he already knew the answer. Why was he doing this? Chris talked about realising he was doing it to feel a connection. It was perhaps difficult for him ask questions and start a conversation about something in Chris’ world but he knew he could start a conversation with something he know about.

Mum. Mum. Mum. Mum. Mum.

It made me think a little more about Freddie. Anyone one who has ever spent any time with Freddie will know that he likes to talk. They will also know he likes to say their name A LOT. Once he has learnt it, thats it. I often find myself explaining, even when people have known him some time, that he loves to talk but he doesn’t have a lot of language. So, in order to communicate, he uses what he knows, over and over. It’s also how I explain it to myself when he has asked me for the 30th time that day “Where Daddy gone?” when he knows he is at work. The other one is in the car, asking me every time we change direction, “why go this way?” Argh – because its how we get to Grandmas/the pool/a friends house/the supermarket etc. The latest one is shouting at the top of his voice, “Hello Mummy, Hello Daddy, Hello Bella, Hello Jago” all at once even if we are not all with him. My boy has literally no volume control. Ha Ha.

Patience In Bundles

I have had to learn patience in bundles. Imagine being asked the same handful of questions over and over and over again, all day long. It is really hard work and a little bit like torture but I try to smile and answer him each time as if he hasn’t just asked me. I want to encourage him to use his language and increase it, which he is doing slowly but surely. Often though, when he asks “where Daddy gone?” I ask if he knows and he pretty much always does. Then we can start to elaborate on what he knows. I’ll ask him, who does he work with or has he gone in his car or in someone else’s? What colour is the car? etc. Then we can communicate on a deeper level.

Although I know all of this about Freddie and I encourage him to talk, I had never really thought about it being for connection. True connection and what that means to us as humans. I look at how our dog communicates with us with no human language and all the ways we know what he wants or needs. It’s a basic human desire to be connected. I can see that Freddie’s desire for connection and community is huge.

Funny how sometimes you see something but don’t truly see it at first. Freddie is rocking the human connection.

“When You Get In Your Head, You’re Dead.”

This week I was chatting to another SN Mum I met last year. We chatted about how we can defuse anger in ourselves and in others.

It’s so easy to listen to that internal narrative. You are angry, upset, irrational maybe and totally focussed on the thing that is causing you stress. It might be the unsuccessful meeting you attended this week, the annoying letter discharging your child from a service  which they clearly shouldn’t have been (that was me last week) or the ‘well meaning’ comment from another parent/relative. You know the kind, right?

“When you get in your head, you’re dead.” Tony Robbins

You are so focussed, going over and over the experience in your mind and not seeing a way out of it – you are in your head totally.  One of the best ways out of this is asking yourself or others open questions. No-one wants to hear ‘Don’t be silly’, ‘It’s fine’, or ‘Well, that’s not how I see it.’ None of that is helpful is it?

This constant going over and over in your head ultimately causes us suffering.

Feelings of anger, failure or rejection are totally normal. However, if you can’t ask yourself open questions to get perspective and make a plan, those feelings can lead to self-doubt, self judgement and negativity.

Changing your narrative can lead to perspective, knowledge of what is realistic and a plan for how to move the situation forward and get out of your head.

Initially, I was fuming that the hospital had sent out a standard letter discharging Freddie from Orthotics due to a ‘missed’ appointment. I had actually tried to get hold of them to explain that we couldn’t attend between Christmas and New Year but couldn’t connect with them. So, rather than getting myself into an angry state about the ridiculous waste of time and money writing to both me and my GP and then subsequent wasted time and effort it would cause to make an appointment to see the GP to get re-listed, I got asked myself a couple of questions. Can this be easily resolved? Yes. Is it a massive deal? No. Am I prepared to just get on with contacting them? Yes.

I wrote a firm but polite email explaining and suggesting the Trust look at their protocol. I received a really pleasant email within 24 hours acknowledging the situation, advising that he had been reinstated to the register and giving me a new appointment date and time. My contact also assured me she would pass on my thoughts to management. It possibly won’t make any difference but it’s always better to highlight it than not. So, yes it was irritating but i just let it go. I got out of my head. This was something quite small really but add that to the hundreds of other irritations we all have and it can all build up in a negative way.

This is a section of what I wrote:

“I have received a letter stating that my son has been discharged from Orthotics for missing one appointment, in line with Trust Policy.I did try to call a few times to inform you that we were unable to make the appointment due to two out of the five of us in our family having a bug. There was no-one available and I wasn’t able to leave a proper message.As a frequent user of the NHS for our disabled son, I fully appreciate the cost of missed appointments and the frustration it must cause when people repeatedly miss them. My apologies that on this occasion we did not attend.  However, I would suggest that perhaps rather than wasting time and paper/postage writing to me and my GP and the further time and money for us having to re-register, it would be useful to look at our record of attendance and the patients needs. One phone call would have been sufficient for finding a solution.You will notice from his records that we have not previously missed any appointments. You will also clearly see that my son is disabled with a life long condition and will therefore most likely need these services for life.I would like you to reinstate Freddie to the surgical appliances register and I would be grateful for you to re-issue another appointment.I look forward to hearing from you with confirmation that the discharge has been lifted.”

 

Two of my three little heroes. xx

 

5 Options For Planning, Gratitude and Resilience

New Year, New Set of Plans.

Now that the holiday season has come to a close, everyone is heading back to work and school, the appointments are starting to flood in again and the possibility of overwhelm is high.

I’m planning on having a bespoke planner, diary and journal for all of us in our Mentoring Community to use in the near future but until that’s ready,  I wanted to share with you some good options for planning this year.

If you are looking for a good all rounder for a diary, a little daily gratitude to look back on and space for free flow notes and lists the 365 Daily Planner could be a good option for you.

For pure planning, appointments, targets, to do lists of who to contact and when a good diary can do the job. The Personal Daily Planner Organiser has no date constraints so you can start at any point. Simple and easy to use.

Maybe focussing on your goals is the key for this year. If so, the Inspire Now Journal would be great. Again, it has no date constraints so you can start it on whatever date you like. Think goals for your child but also goals for you to help build your emotional resilience. If you have it written down, I always think it is a bit like an agreement with yourself that you will put that time aside just for you. Book in the weekly run or walk with friends or the regular coffee meet up with a friend. Get it booked and get it  done – for you.

If 365 days of gratitude feels a bit overwhelming, ‘Natalie Fox’s 100 Days Of Gratitude Will Change Your Life‘ could be more doable. Forget the planning and focus just on those things. When days are hard and there are challenges around every corner, I find it really useful to write down at the end of each day the three things I’m grateful for. When I look back on my entries, be it something small or something big like the fact that we managed a family trip to the cinema without a meltdown which was huge progress, it all adds up. Sometimes we need to be reminded of the good and the great.

Lastly, anyone who has met me will know I do like a little bit of mindfulness and meditation. If you are totally new to this then you could start with the top line basics in this handy book, ‘The Little Book Of Mindfulness’.

Good luck. x

P.S.

If you purchase anything via the links with Amazon in my blog posts, I receive a small commission at NO added cost to you. This just helps me a little to maintain the website and continue to provide useful and empowering resources for parents and carers of children with special needs and disabilities. Thank you. x