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 biography.com) 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


The dangers of sick bugs galore

I’ve been somewhat quiet on the writing front over the past week or so. I’m currently working out which antibacterial brand I should be taking out shares in. The Vital Baby Acquaint Sanitising Water is a pretty good one. I think I’ve also used about 100 of these Flash wipes. I have been pretty much house bound since last Thursday and it looks like I have at least another two to three days to go. One by one my three children have been dropping like flies with a really nasty sickness bug. Freddie was the last to get it. I got a call from his special needs school yesterday to say he had been sick so I got in the car and rushed over to get him. His poor yet amazing TA said they were all in the dinner hall at lunch and he started to look unwell. We think he is having Absence Seizures so she thought that was what she was looking for. Unfortunately, sometimes the signs he is going to be sick look a bit similar to the absence. The next moment, the whole table and all the food on it was no longer looking very appetising. Argh, it’s just too horrid but they still had a sense of humour about it. (So sorry to anyone reading this whose little ones go to the same school. Eek.) I now know I am also quite adept at driving carefully and catching sick in a paper receptacle on the move. It really really makes me heave.

Bella is back to her usual self but Jago is really poorly so he has gone to stay with my Mum-in-Law to be looked after. This is something I’m feeling really guilty about, although I know he is in very safe hands. I’m so lucky to have this support because although it’s not nice for any child to be sick and feel so poorly, it can be really dangerous for Freddie so it means on this occasion I can give him my all. He has an unsafe swallow and doesn’t chew his food well at all so we have to be really careful what he eats. He also doesn’t very often wake if he is sick in the night and he doesn’t really move in bed. This means I have, in the past, come in to find him laying on his back with sick everywhere and lots of pieces of undigested food all over the place and still in his mouth. Such a choking hazard. So, last night he stayed downstairs with us until we couldn’t stay awake anymore and I stayed up with him all night to keep him safe and comfortable. We are now just trying to keep water down. We have gone from trying to pipet 1ml of water into his mouth when he was an infant because he wouldn’t/couldn’t drink it, to now withholding water to only small sips when he actually wants to drink gallons.

Also, I now officially have old lady hands from all the cleaning, washing and use of antibacterial. For anyone else who has this problem of incredibly sore hands, my top tip is to either buy some Burts Bees Hand Repair Cream or my other favourite, L’Occitane Shea Butter Hand Cream. I swear by them. To top it off, we are having some work done to the house so no water or use of a washing machine. Thank you AM for walking my dog and taking home a basket of laundry, don’t know what I would do without you and thank you LN for being such a fab friend.

After spending the last 24 hours with increasingly rapid breathing and heart rate, frothing in the mouth, constant throwing up and choking, Freddie is finally sleeping on the sofa. It’s given me the chance for a hot cup of tea and few minutes to update my blog. Plus a little rest from all the jolly kids TV I have been subjected to for the past week.

I hope you are all staying clear of this horrid sickness bug.


Last week was a first for me. My friend and Mentor, Clay Lowe, invited me to take part in a Podcast with him. We talked about Aimee Mann Mentoring, the first in a series of events that I am facilitating, hosted by Entrust Care Partnership and what it means to be Undiagnosed and the support I have received from SWAN UK. It was a great experience and I hope to do another one again in the future. If you have a few minutes to listen, maybe whilst doing your ironing or you can log on to Radio Warwickshire and listen to it in the Car, please do have a listen to learn a little more.

When 20 pairs of eyes are all on you…

This morning was a mad dash, more so than usual. I had been invited, in my other capacity as Volunteer Parent Representative for SWAN UK to meet with 20 Paediatricians, consultant and trainee level, at our local hospital. It was infact the hospital where all three of our children were born and where we spent our time in SCBU with Freddie.

I was there to tell them about Freddie’s story and the importance of having a sense of belonging to a community who understand you, having access to good quality information and knowing that the professionals who are supporting you have somewhere to signpost you rather than telling you to go home and to wait and see what happens. This elusive support network and raft of good quality information is often very hard to come by when your child has no diagnosis to explain their problems. SWAN UK, however, was my saviour.

I always hated public speaking and I used to be a lovely shade of beetroot even when presenting in the corporate world but as time has gone on I have learnt to love it. My worst moment ever was appearing live on one of the shopping channels, I was terrible. Ah how I laugh when I think back now. I could have taken part in The Mannequin Challenge and most likely won it.

When I first started public speaking for SWAN UK, I realised very quickly that I knew my topic inside out and that gave me the confidence to speak.

When I first arrived today and looked through the window I thought I must have looked like one of those cartoon characters who’s heart is pounding out of their chest.

That feeling really only lasted about five minutes though. Once I started to tell them all about Freddie and our experience it all just started to flow. The reaction was such a positive one and I loved it.

SWAN UK made such a impact on me in my state of limbo and distress that I took on the parent rep role and this is one of the things, along with my other supporters such as Entrust Care Partnership, my coach, my lovely friends and family and of course Ollie which have given me the confidence to set up Aimee Mann Mentoring to really support and guide parents of children with special needs and disabilities with or without a diagnosis.


Time for some Zzzz’s

January 3rd brings with it a holiday day, The Festival of Sleep.

A very sleepy tiny Freddie getting in some Zzzz (2012)

I can hear the sounds of sarcastic laughter ringing in my ears. With so many of us running on empty and trying to managing our sleep debt, the thought of a whole day dedicated to sleep and rest seems very far fetched. Although its origins are a little hazy, The Festival of Sleep is like an official duvet day. Ah I remember these days fondly, days before children, working in the city or my university years. Whole days spent in my PJs, drinking tea and watching terrible TV. Finally getting showered and dressed just in time to make it to the shops to buy food for dinner. Brilliant.

So, although the majority of us won’t be able to achieve a whole day of rest, do try to take 10 minutes, half an hour, a 20 minute walk to just be and rest. Don’t look at the ever expanding To Do list, don’t put another load of washing in and don’t do any paperwork. Just be. If you can get time to do a favourite activity or have a nap then grab the opportunity with both hands. Light the candles, read a book (or at least a whole chapter, I’m still trying to finnish the latest Jilly Cooper) have a bath or play some music you like. Here are some of my all time favourite things: The Little Book of Mindfulness, some beautiful candles, aromatherapy and some lovely bath salts or bubbles by Neals Yard.

Be kind to yourself.

My wonderful Mum-in-Law had all three of our sprogs to stay the night so that we could go out for New Years Eve. My poor hubby had to leave for work at 8am this morning so I found myself alone. Even the dog had a sleep over. Although feeling very guilty knowing I could be ticking many items off the huge To Do list I have created, I took my Mum-in-Laws advice and took some time for me. I have had a very cheesy 1980/90s morning watching Cocktail and Pretty Woman whilst drinking HOT cups of tea. I’m not totally sure when this opportunity will come my way again so I decided all the jobs could wait and I would pretend I was 22 again and chill out for a bit. I could have gone back to sleep which would perhaps have been the most sensible but I’ve loved my cheesy one off morning. With that said, I better clean up the house a bit and go collect my children.

Happy New Year Everyone. I hope it is a positive and kind year with lots of opportunities for wonderful memory making with your children and the odd time of rest.




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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


How to be a Velvet Bulldozer

How to be a Velvet Bulldozer, is a term that has stuck ever since it was mentioned to me a few years ago by a friend of mine.
I was at the start of a very long period of time trying to get our local audiology department to take me seriously. My son clearly had hearing issues, he failed his new born hearing screening three times whilst we spent time in SCBU. They tried to get a reading for twenty minutes and now that I’ve had two more children, I realise the positive result of the test is measured in seconds. Had I known this then, I would have been on the case sooner. Even with these results and multiple other incomplete tests at around nine to ten months old, local audiology wouldn’t and in some ways couldn’t help us to help him. I really believe they were not experienced enough in working with children with special needs. I can recall very clearly, asking the lead audiologist why on earth they thought I would want him to have hearing aids if he didn’t need them? The whole thing was firing up my anger, sadness and irritation.
Anyway, as time went on, with more and more hearing tests, more appointments locally and in Birmingham all to no avail, with the direction of my very knowledgeable friend, we eventually took him to see a fabulous private audiologist who confirmed our suspicions and very wonderfully gave him some hearing aids on loan. It was a massive relief, not of course that his hearing was impaired but that someone was taking us seriously and agreed with our gut feeling and observations at home. This, alongside some specific speech and language therapy and developmental therapy helped him to switch his hearing on and it stopped the vacant moments he had been having since birth. We were also then on our way to the amazing Great Ormond Street Hospital where the lead audiologist also confirmed our fears but helped us to champion his needs.
All of this plus many many hours of therapy at home set us on the path to recovering his hearing to within normal limits. He no longer wears hearing aids and his speech (this is another subject entirely) is coming along great.
As we fought this particular battle, amongst others, I tried to keep in mind being that ‘Velvet Bulldozer’. Getting what we needed but in the best way possible. Keeping the professionals on our side, getting as much information and understanding as possible and preparing well for each and every meeting.
When you really need something for your child or for yourself remember that term and see yourself knocking down all the walls to get to your prize in the smoothest way possible.
It wasn’t until very recently that I actually read the book from which this term is taken and I wish I had done so much earlier. It’s a great read, you can dip in and out of it and the reviews are extremely positive.

Busy Just Surviving

I’ve come to realise, we are more often than not, busy just surviving.

Each day we can decide to live it with purpose, focussing on our personal mission. We will all have days when we struggle with this, I know I do when I’m exhausted, sad or challenged but having focus is key.