Month: February 2017

Rare Disease Day 2017

Rare Disease Day 2017 is today.

The main objective of today is raise awareness and raise funds to support those living with a rare disease. A rare disease is one that affects less than 5 people in 10,000 of the general population. So, I guess we can say that at the moment, Freddie is pretty rare. As more results come in via the DDD study and the 100,000 Genome project, he will most likely become less rare. At least, I hope so. It can be very isolating not knowing anyone else in your situation, although that is the brilliance of SWAN UK. SWAN UK brings together families who’s children have no diagnosis to explain their difficulties. For 4 years, this was our situation. However, as Freddie’s condition remains on the rare side, we are still supported by SWAN UK. This initiative changed my life.

Roughly 1 in 17 people will be affected by a rare disease at some point in their life, thats 3.5 million people in the UK alone.

The thing with being rare is that there isn’t much known about your condition and as such there is no prognosis for many. For us, the negative of this is that we have no idea if Freddie’s condition could be life limiting or at some point become regressive. The positive side of this is that we can believe anything is possible and potential can be high. I always try to focus on the latter. The first option comes with too much fear.

I volunteer for SWAN UK as a Parent Representative to help raise awareness of undiagnosed and rare conditions. Freddie only received a diagnosis aged 4, however I know many children who remain undiagnosed well into their teens and beyond. 6,000 children are born each year with an undiagnosed condition likely to be genetic (either hereditary or De Novo) and 50% are likely to remain undiagnosed. Like SWAN UK, RARE DISEASE UK is an initiative of Genetic Alliance UK and a national campaign supporting those with rare diseases and all who support them.

Please do read a bit more on rare diseases and share the information, especially if you know someone who could benefit from the support.

Speech therapy, The sky’s the limit

What an exhausting day. What a successful day.

Today was our 3rd session of home speech therapy for Freddie. We do this every 12 weeks and then I carry out the program at home on a daily basis. It’s exhausting, a full day of work for us all, but now I finally feel we have found a fantastic and engaging speech therapist. Someone Freddie really warms to and who gives Freddie 100%.

We have tried a whole variety of speech and language therapy approaches, all with a small level of success but none that has made such a marked difference. This will of course partly be due to Freddie’s brain maturation and his personal growth. He is now ready for it but I believe finding the right match between Freddie and the therapist is key. Thank you Carys for being AMAZING.


We do have an almost adequate amount of support from the NHS and we are grateful for the provision and support we have but it isn’t any where near enough. Freddie has a severe speech disorder, Verbal Dyspraxia, Dysphagia, Dysarthria, low muscle tone and delayed motor planning so he needs more than the average to succeed and improve. His therapists at school also focus more on his language than his speech. He needs a lot of focus on his speech.

The frustrating thing is that in order to get the right type of therapy for Freddie we have had to go quite far afield. To be honest, at one point I was seriously considering a residential trip to America but luckily, after much searching, I finally found someone with all the necessary skills. We use Skybound Therapies who are based in Pembrokeshire. You can either visit their office or they will conduct a home visit. They also have residential stays and can offer help in many other areas. It’s not cheap but it is an awful lot cheaper than going to America.

Freddie’s therapist has all the experience we need, level 3 Talk Tools, Nuffield Dyspraxia Programme, PROMPT Bridging Technique to Intervention Level 2 (making her one of only around four therapists trained to this level in the UK) and the Kaufman Speech to Language Protocol. She is also trained in many many other areas but these are the key skills we work with to help Freddie with his speech. And it is working.

He has improved so much in the last 12 weeks. His speech is progressing. As a result, his language is also improving. There is still a very long way to go though. I always try to focus on the positives and the achievements but I am also realistic. Once I understood where he was ability wise and how much it takes just to move on even a small step, I realised that helping Freddie reach his potential is going to involve many many years of hard work and determination on a daily basis from both of us. There is no real end in sight but he is achieving each and every day which makes it all worth it.

What a Superstar

“Sometimes it’s the very people who no one imagines anything of who do the things no one can imagine” The Imitation Game.


One of the books I found incredibly useful when learning about Developmental Verbal Dyspraxia/Apraxia was Late Talker What To Do If Your Child Isn’t Talking Yet. It is very informative and easy to read

And so it begins again, Fighting for Freddies Therapy

And so it begins again. Last summer I requested a meeting with the Head of Speech and Language for Special Education along with Freddie’s therapist at school to discuss the provision he is entitled to.

I wanted more.

Developmental Verbal Dyspraxia

Freddie has a severe speech and language delay and Developmental Verbal Dyspraxia/Apraxia. Added to this, he has a learning disability. This means he needs a lot of intervention. Just to put this into context. If you live in America and have Developmental Verbal Dyspraxia/Apraxia you can receive three 45 minute sessions of therapy each week or three to five 30 minute sessions. Before my meeting last summer, Freddie was receiving one 15-20 minute session each week during term time. This only totals approx 12 hours and 20 minutes therapy a year. Due to his therapists school meetings and other commitments, he didn’t receive around a third of his provision. So really he only received around 8 hours therapy all year. 8 HOURS!

That is well over 100 hours less therapy each year than in America. I realise their health system is different. I wasn’t expecting to get the equivalent without paying for it but I did want two 30 minute sessions each week during term time. Regular intervention is key.

“To summarize, although there are differences in definitions of intensive remediation for children with CAS, there appears to be emerging consensus within the literature that therapy should be conducted at least three to five times weekly, in sessions lasting between 30 and 60 minutes each, and that the intervention should be conducted on an individual basis.” Penelope K. Hall, Linda S. Jordan, Donald A. Robin, Developmental Apraxia of Speech: Theory and Clinical Practice, 2nd Edition, page 200, Pro-ed Publishers, Texas, 2007.

I got into Velvet Bulldozer mode, I planned my well formed outcomes for the meeting and was in a very resourceful state. To my delight, I got what I wanted. The meeting went smoothly and successfully. They agreed, double the provision and then some. It was implemented in September 2016 with a plan to review in January this year, followed by a meeting to discuss his progress or lack of. This meeting was yesterday with his wonderful teacher and his SALT.

I’m so disappointed. Even though he has been making superb progress, something which has been noted by everyone who works with him, his Speech Therapist informed me she didn’t think he needed to continue with the additional therapy and intervention. “He is doing ok.”

She seemed to think that he would be fine with just one session a week and probably not even a half an hour one, alongside his daily input from class and from me at home running the private therapy we buy in.

What if he didn’t have the additional from us? What if we couldn’t manage it or didn’t have capacity to carry it out, would it be different then?

All of our children who need Speech therapy or therapy of any kind are being done a huge disservice by being refused the relevant intervention. I know budgets are tight but they are also often wasted.

There are a number of concerns I have from yesterdays meeting, i won’t go in to them all but the main result is that I now have to go back to the start and fight once again for his Speech Therapy provision. Why would you take it away from a child who is doing so well?

So, The Velvet Bulldozer strikes again and I planned out an email to the Head of Speech and Language, his current SALT and cc’d his teacher (who is in agreement with me) to request another meeting after half term with the new members of staff. I have made clear how disappointed we are and that, especially as this provision is detailed in his ECHP, I want it reinstated. One of the positives here is that his current SALT is retiring so hopefully we might be able to start a fresh.

I told her again yesterday, something which I have said before numerous times. We fully believe in Freddie. That he can reach is fun potential with enough of the right support and intervention. We as his parents do as much as we are able both physically and financially but we need professional support to back this up. I don’t want Freddie to be in a situation where he isn’t progressing as he should be because someone has decided to remove his provision. I don’t want to look back on this stage in our lives and doubt that we gave him everything that was possible.

The Life Olympics

Our children are training for the Life Olympics each and every day of their lives and deserve all the support and intervention possible to help them win those Gold Medals.

You wouldn’t find Usain Bolt (image courtesy of winning any Gold Medals on just 12 hours training a year would you! This is the analogy I used yesterday. Not much come back from that, funnily enough.

So, I will be planning my well formed outcomes and getting into a resourceful state ahead of the next meeting to get some positive results. I want what I want for my boy and this Velvet Bulldozer is going to get it. Wish me luck.

Looking forward to our Velvet Bulldozer workshop next week on February 16th. x