Wednesday, 8 November 2017


This is such a huge topic- where to start? For those of you not familiar with Rett Syndrome, Jess (like most who have Rett Syndrome) is non-verbal. This means that she has no vocal speech at all. However, don’t interpret this as her being silent! She can laugh, cry, giggle, moan, groan, scream and squawk for attention! However, Jess can’t use her hands due to the involuntary hand wringing that is such a huge part of having Rett Syndrome. This means she can’t sign or use hand gestures to communicate.

There are many things that Jess CAN do however. The most important thing to know is she DOES understand. She understands what we are saying to her, she recognises letters and numbers, she reads and spell words. She constructs sentences. She tells jokes and winds her little sister up! 

So how does she do this? A lot of Jess’s communication is non-verbal, just the same as the majority of us. For Jess this involves facial expressions and vocalisations; and for those of us who know Jess well, we can on the whole read her quite well. Jess can also use her eyes amazingly well. We know what her “yes” and “no” are - for “yes”, she will look directly at you and make eye contact, or giggle, vocalise or get excited. For “no”, she will look to her left shoulder. This allows Jess to answer simple questions and make some choices. However, this is NOT full communication. Think about all the things you say in a day, and imagine you can only do this with “yes” and “no” or facial expressions!

For a long time, it was assumed that those with a diagnosis of Rett Syndrome had severe learning disabilities, and were incapable of learning skills. However, with new technology, this is being shown to be completely incorrect. Those with Rett Syndrome appear to have a lot of understanding but until recently had no way to express their understanding and knowledge. This new evidence is now being recognised and supported with some of the main charities (like Rett UK) focusing on communication and supporting those with Rett to meet their full potential. 

So the communication that Jess uses is called AAC (Augemtative and Alternative communication), which is an umbrella term that covers any non verbal communication.  Jess communicates like this in a variety of forms - sometimes using no technology (for example, making a choice between two DVDs by looking at the one she wants, and then back at me), low tech (she has a communication book - she uses a language system called PODD which stands for Pragmatic Organisation Dynamic Display) and a high tech communication device which is a computer that she controls with her eyes, and also has the same PODD language system on it. 

We always knew Jess understood things we were saying, and what was going on around her, even when it was not obvious to others. However, moving from having a toddler that we knew understood the world around her, to having a child with robust communication skills that both she, and others, can use to communicate, is a huge leap. 

We have faced a massive learning curve in terms of finding out about the communication strategies, equipment and the technology that is out there, teaching strategies, strategies specific to Rett Syndrome, convincing others to believe in Jess, convincing others that strategies that work for children with other conditions may not work for those with Rett, fighting for funding and equipment. And this is before you even start! 

We are very very lucky- we have always had supportive Speech Therapists, Jess goes to a very dynamic and motivated school, and we secured funding for the eye gaze device through our local teams. But this is only part of it! Any communication with Jess is time consuming-  for no tech, or low tech communication, Jess  is very dependent on another person for what’s called “Partner Assisted Scanning” where we go through the options, until she indicates we have found what she wants. This may not be a clear yes or no, it can be what’s called a “best yes”, so requires the person with her to be watching her closely and concentrating to notice very subtle indicators. The eye gaze computer is amazing as Jess can use this independently- her communication can be faster, more timely, more spontaneous and allows her complete freedom of what she wants to say. However, it takes time to set it up, calibrate it, trouble-shoot it etc etc and isn’t able to be used in all situations. It also needs frequent editing and updating as new people appear in Jess’s life, and new films and songs become favourites for example.

We then all need to learn how to use these communication systems- PODD (and most of the equivalent systems) all use symbols, so it’s like learning a whole new language. We also all have to learn to navigate through the system so we can find the symbol we want. This means that we all need to use the systems, all the time- it should be constantly available to Jess for her to use, and we should be constantly modelling to her - so when we talk to her, we also use one of the systems. 

In addition, we are trying to teach Jess to read and write. We know she already has some reading and writing skills, using flip charts of the alphabet and core words and Partner Assisted Scanning (although we have no idea how she learnt to do this!). There are again very specific strategies for teaching a child like Jess to read and write and this has also been a steep learning curve, and skill sets that her school have had to also learn and implement specifically for Jess. 

This is all hugely time consuming, and very hard when trying to balance with a normal family life- school runs, play dates, days out etc. Add into the mix frequent periods of Jess being unwell and hospital admissions and it gets even harder. 

As with anything to do with being a special needs parent, it doesn’t matter how much you do, you will always feel like you are not doing enough. And given my aversion to anything technological (technology doesn’t come naturally to me!) the eye gaze computer has been a massive source of anxiety and frustration. 

So why do we bother? There are many reason why we put this immense amount of pressure on ourselves. 

From our perspective, it is amazing to find out what Jess is thinking, feeling and her opinions on things - and this becomes addictive! Once you start this process, you really miss the ability to communicate when in situations that mean you can’t use the method you want to, for example if the eye gaze device stops working. It also further develops the relationships we have with Jess,and the connections we have we have with her.

But the main reason is, I truly believe there is nothing else we can do that will increase Jess’s quality of life to the same degree.  The ability for her to communicate, using a robust communication system, with those around her will (and does) give her life so much more depth and satisfaction. Jess is a naturally social child, and she loves being able to interact with those around her. Jess is also learning to communicate things that affect her- recently, she was able to tell us that one of her drugs was giving her side effects that made her feel ill, so we changed the drugs she was on. And when we as her parents are no longer around, or are no longer her main care providers, she will still be able to communicate her wants, needs and wishes.

The ability to communicate whatever she wants to say, whenever she wants to say it, to whom-ever she wants to say it to, is what will make the biggest difference to her quality of life. And so we persevere, as this is the greatest gift we can give her. 

Thursday, 23 February 2017

Jess and her EyeGaze Device

So, I've not updated this blog for a while. My last post detailed how serious Jess's medical complications are/were, and there is a lot more I could say about this. And I will at some point,
BUT this blog post is about Jess's amazing communication over Christmas, which just blew me away and was a lovely end to what was a very difficult, challenging and emotional year.

Jess is very lucky to have her own eye gaze device, and a lot of support from school and her speech therapists. Add into that all the emphasis on communication in the Rett world at the moment, this makes for a very exciting time for us. However, Jess's progress, and how much we have been able to make the eye gaze a part of our everyday life, has been hindered by her poor health and multiple hospitals stays over the last 12 months, which made her achievements over Christmas even more special.

Firstly though, some background for those who are familiar with this world. When Jess initially was given the eye gaze device, she was using Grid 3 on her high tech eye gaze device. But low tech, she was completely immersed in  PODD at school -  with a PODD book, and her whole class were using PODD with it being continually modelled. In a perfect example of just how important modelling is (where someone is using/demostrating the system to talk to Jess as well as verbally speaking) once Jess had PODD put on her eye gaze device, she immediately knew how to use PODD and was straight away flying through the screens and navigating to things we didn't even know were in the system!

Over Christmas, Jess was relatively healthy and we spent a lot of time at home, where the eye gaze can be set up, which made it the ideal combination. We had the eye gaze device set up next to Jess's armchair, and had it on and available to her the majority of the time. She completely amazed us by using it spontaneously, in a timely manner, and completely in context. On occasion, the adults would be talking beween themselves, and we would have no idea that Jess was even listening until she suddenly would join in the conversation with the eye gaze! It was exactly what communication should be - being able to say what you want, when you want, to whom you want. Not just being able to make a choice from two options, or only being given one hour or less a day to say everything you want to say, when the moment you wanted to comment on has passed, or the person you want to say something to has gone.

So, here are some examples of things Jess said using her eye gaze device over Christmas:

We were talking about family coming to stay over Christmas

Again, more family coming to stay

Talking to Anna

Her answer when asked what she wanted to do!

Jess wasn't feeling well

We had just told Jess we would be visiting a friend the following day

A spontaneous question

We are not to sure what was upsetting her here, and the situation was such that we couldn't ask her too many direct questions to find out.

But she repeated this every time we deleted the initial screen message!

I think she was missing school!

Her answer when she was asked what she would like to do

We were talking about going for a walk!

Jess was watching TV (I thought!) and I was absentmindedly playing with some toy instruments when Jess suddenly said this!

The grown ups were talking about an item on the news about a plane crash the previous day - we didn't even know she was listening!

Here we were playing a game called Shopping. It's a memory game, each player has a shopping list and you take it in turns to turn the tiles over and find the items on your list. When you find the tile you need, you place it in your basket, and the first one to have found everything on their list wins.

Jess put cheese in her basket

She then used the eye gaze to say cheese!

Here, you can see that she was saying "have" and "have not" depending if the tile I picked up for her was on her shopping list. Then I asked her which tile she wanted me to turn over next, and she replied "can you please do it for me"!

For other Rett parents reading this, please be aware that Jess doesn't always communicate this well! She can be too tired, distracted, ill or just not interested. Or we can have technical problems (I very much have a love/hate relationship with this amazing piece of technology!). But for some reason, it just all came together over Christmas, and fell into place.

I am so proud of my gorgeous girl, and what she has achieved despite facing so many health issues. I will update soon about her medical management but we are really hoping for some stability now for 2017, so she can continue to develop her communication skills and generally carry on being amazing!

Sunday, 17 July 2016

The reality of having a medically fragile child

In the last six months, Jess's health has significantly deteriorated, and as a result her medical management has become very complicated. Multiple, unexpected emergency hospital admissions take their toll and affect every family member and aspect of family life. We have found that we have had to completely adjust how we live our life, sometimes in the most unexpected ways....

At home:

  • I no longer buy a week's worth of food through online shopping, as Jess will inevitably get admitted on the day of, or on the day after, its delivery and it will end up being thrown away
  • I always try to keep up with the laundry so we always have clean clothes ready to go into hospital with 
  • I always try to leave the house tidy. We never know who might next be in it - either collecting supplies for the hospital or looking after Anna.
  • We always try to have a back-up child care plan for Anna - everyday, just in case
  • When booking and planning days out or holidays, we do it knowing there is a good chance it won't actually happen
  • When booking and planning days out or holidays, we not only have to consider where the nearest A&E is, but also where the nearest paediatric intensive care unit is (only specialist hospitals have these units)
  • When booking and planning days out or holidays, we have to consider how complicated it would be, and how much money we would lose, if we had to cancel at the last minute
  • Despite the above, when Jess is at home and well, we try to plan lots of things as we don't know when we will get another chance
  • When booking and planning days out or holidays, we don't tell the girls until the last minute so they don't get disappointed if it doesn't happen
  • If we have a list of chores to do (and when don't we?) and some free time, you can't say "I can't be bothered, I'll do it tomorrow" as you may end up in hospital tomorrow and be there for weeks -  therefore you never really sit down and relax
  • I carry round pretty much all Jess's medical letters with me (which explains my huge handbag), just in case we end up at a different hospital or with a doctor we don't know
  • When I ring my husband at work, he never knows if I'm ringing to ask him to buy milk on his way home, or to tell him that Jess is in an ambulance on the way to hospital and isn't breathing
  • I'm NEVER without my phone. If I go swimming, I give school the number of the swimming pool reception....  Just in case 
  • Jess's wheelchair no longer always fits through doorways, due to the vast amount of medical equipment we have hanging on it

Our hospital experiences can also be somewhat unusual:

  • When the paramedics radio ahead to say they are bringing Jess into resus, the A&E staff  reply with "see you soon Jess!"
  • We are on first name terms with the staff in A&E, all the paediatricians and the ward staff
  • When getting our bed space ready, the staff on the ward set up all Jess's emergency equipment, including a "Frozen" DVD
  • Everyone gets excited when you go 8 weeks without an admission
  • When you arrive on the ward, other patients already there think you are a celebrity because all the staff rush over to say hello and give you a hug
  • When you get admitted for a chest infection, all the hospital staff are really excited - because it's not a urinary infection this time
  • The same doctors that you try and dress smartly for when seeing them in outpatients (in a vague effort to try and convince them you are sane and responsible, so that they listen to and act on your opinions and requests) end up seeing you on the ward - just out of the shower and wearing your pyjamas.
  • The above-mentioned doctors also wake you in the middle of the night, and observe you trying to be sufficiently coherent to answer whatever obscure questions they are asking, whilst half asleep, bed-head hair, no contact lenses in and unable to find your glasses
  • You get used to sleeping in a bay with six (often crying/screaming) children and six snoring adults (who are often ignoring said crying/screaming children), lights on, alarms going, phones ringing, bleeps bleeping, doorbells ringing etc etc etc. 
  • You actually sleep better in the above environment than at home, as listening out for Jess, and ensuring she is alive, is someone else's resposibility
  • Anna will request which hospital, and which ward, she would like Jess to be on, depending on what toys she wants to play with that day
  • I know where things are kept on the ward better than some of the staff

Despite all the above, we try very hard to give the girls a childhood as "normal" as we can (whatever that means!). This is helped by the fact that when she is well, Jess loves days out, holidays and new experiences. We want to build as many family memories as we can, while we can. Who knows what the future holds? 

Tuesday, 29 March 2016

The new normal? I hope not

I haven't updated this blog recently, mainly because I'm not too sure what to say, and to be honest we have been too busy just trying to survive. Jess has had a pretty rough time of it health wise over the last few months, and I'm not sure things how things are going to stabilise out. 

After being diagnosed in June 2011, Jess didn't have any real health problems associated with Rett. That's not strictly true- she never slept, and did have severe reflux. But everyday life carried on, and we mainly focused on developmental skills and making sure that Jess enjoyed as many experiences as we could let her. 

Then in the December of 2013, Jess went into Great Ormond Street Hospital for a 48 hour EEG, to see if any of her numerous night time behaviours were seizure related. In true Jessica style, she had complications completely independent of the study she went in for, and we came home (a week later, with instructions not to travel over Christmas) with home oxygen, an oxygen saturation monitor, a suction machine, an NG tube, a feeding pump, a diagnosis of seizures, and dates for two lots of surgery! It was a lot to take in. 

Life never returned to how it was before. In the subsequent year, we had numerous hospital admissions, ambulances, tests and appointments. Her list of medical complications grew, and her care became more complex. 

However, between April 2015 and August 2015, she seemed quite stable.  She was tolerating her spinal brace, her reflux and chest infections had reduced when her feed was changed to a jejostomy feed, her recurrent UTIs reduced with prophylactic antibitoics, her seizures were well controlled unless she had an infection, and her sleep had improved with the addition of a drug called Clonidine, to the melatonin she was already taking. 

For those five months, we had a glimpse of how life could be, with predictable (although still not enough!) sleep, and not worrying that Jess was going to be rushed into A&E at any moment. I will say that I never totally relaxed, and enjoyed this time. It was always a feeling of when, not if, we were going to return the previous state of life. But, at the time, we were still thinking "this can't be it", "this can't be as good as it can get". But now, looking back, it actually was a pretty good period. Isn't hindsight a great thing?!

Since September 2015, things haven't been so good. Jess's UTIs returned with multiple drug resistant infections, and her reflux became a problem again, all leading to a major deterioration in her sleep pattern. And everything is related, so anything you do for one problem has a direct knock on effect on another problem- nothing happens in isolation. As well as these obvious things, Jess just hasn't been "quite right" since September, which is far to vague and unspecific for anyone medical to even know where to start. 

However, things have taken a distinct turn for the worse since December. In the last week of school before the Christmas holidays, Jess was unwell, and having some small absence seizures, which were not bad in themselves but concerning. She was then admitted to hospital on Christmas Day (so rubbish!) with an exacerbation of her seizures. She has since had a further four hospital admissions, including an admission to Paediatric Intensive Care at Great  Ormond Street for Status Epilepticus, nearly all due to uncontrolled seizures resulting from infections. 

Jess now has even more medical complications to add to the list, and her medication list is crazy! Her new care needs are even more complicated with new equipment being needed, everyone who looks after her needing more training, she now needs 1:1 on school transport (which is turning into a nightmare to be organised). I have also found myself making comments, which to us are part of our new "normal", only realising by the look of horror on people's faces, that this is not normal at all! Statements like "anyway, I just need to go and check Jess is not unconscious" and "it's ok, she doesn't stop breathing every day".

I really don't feel we are in a good place with Jess at the moment. Her UTI's are frequent, with limited drug options for treatment, and the doctors are finding it increasingly difficult to get IV access where she has had so many IV lines in. And as well as the infections making her ill, they also have a devastating impact on her neurological status each time. 

Five hospital admissions in 3 months is a lot. And its's not just the acute side of things that is difficult to deal with- all the investigations she has had recently turns up new things each time. A routine X-ray showed osteopenia (low bone density which increases the risk of fractures) which we always knew is a risk factor in Rett Syndrome, especially as Jess is non-weight bearing, but we didn't know this process had already started for her, when she is so young still. And Jess had a brain scan when she was in Intensive Care- it fortunately didn't show anything acute to be worried about, but commented that she has "frontotemporal atrophy in keeping with Rett Syndrome". It just brings home just how physically devastating Rett Syndrome can be, and how much it is destroying her little body. 

As well as trying to cope with everything going on with Jess, one of the hardest things has been trying to support Anna through this time, and make sure she receives the love and attention she both needs and deserves. It's a difficult juggling act, but Anna is coping as well, if not better, than I would ever have hoped for. She is quite an amazing little girl and sister. 

Jess is now out of hospital, although still on IV antibiotics for her most recent infection, but she is actually on great form. She is the best we have seen her in a very long time, and it's both lovely and amazing to see her so well, and so happy given all that she's been through recently, and how precarious her long term health actually is right now. I've said it before, but she is amazing with what she copes with, and I am very proud to be her mummy.  

Tuesday, 24 November 2015

Amazing... but bittersweet

The last couple of months have heralded a new start for Jess. One that should, hopefully, make such a massive difference to the quality of her life.

In October, I went on two courses. One was run by Rett Education UK, and the other (a two day course) was run by Rett University. Both courses were presented by the amazing Susan Norwell, who runs Rett University, and were focused on teaching our Rett girls to communicate, read and write.

There was so much information presented on these courses, and at times I felt very overwhelmed  - both at the steep learning curve ahead for me and Jess, and also the sense of responsibility of wanting to make sure we do the best for Jess, and give her every opportunity possible.

I so much want Jess to be able to communicate fully with us - to be able to say whatever it is she wants to say, whenever she wants to say it; and not be forced just to choose from two options. I want to get to know her properly. Being able to communicate fully like this would improve her quality of life - for her entire life - so much. Being able to tell us when she is in pain, who looks after her well, being able to communicate with ANYONE, not just us or those who know her well. The difference this would make to her life is immeasurable.

The courses really brought home to me was that Rett Syndrome is NOT a cognitive disorder, but a neurological, physical disorder. Rett girls are traditionally thought to have a severe learning disability, but with the advances in technology and the use of Eye Gaze computers, this assumption is being challenged. Many Rett girls, given the appropriate tools to communicate, are showing that actually they fully understand everything going on around them - they are just not able to express themselves easily. Susan had so many amazing videos of Rett girls and women communicating in a wide variety of ways - all in context and meaningfully, demonstrating that they had full understanding of the topics being discussed.

One of the factors that significantly affects Rett girl's ability to communicate is their apraxia. Apraxia is the difficulty or delay that they experience in completing a physical act on command. In simple terms it is the delay after the message leaves the brain, and then results in a physical action, even though the cognitive understanding and intention were there. This delay in a Rett girl responding to a question or command may mean their response is missed or misunderstood. It also means that people may assume that the Rett girl didn't understand the question or instruction, but this is not necessarily the case.

The other major take-away message from both courses was, no matter what form of communication your Rett girl is using - PODD books, Tobii, high or low tech - the key is in modelling it. Talk to them using their form of communication - in essence, learn to speak "symbol"! By constantly using their form of communication, they will see how to use it, as you are demonstrating it to them. They will be able to learn what lots of different symbols mean, and you will be able to really immerse yourself into the techniques required, and will see what works, what doesn't work, what symbols are missing and be able to amend as needed. However, this is much easier said than done, and this did made me feel very overwhelmed - how on earth are we going to achieve this?

There was so much information over the three days - far too much to include on the blog here - even if I had understood it all, which I didn't! So I will just put the links to Susan's two websites:

Focused Learning Solutions


Rett University

Rett University provides on-line courses for teaching Rett Girls literacy, reading and writing. If you are thinking of doing this, then definitely do look at these websites, if you haven't already. The guided Reading 1 course provides suggestions on how to adapt reading books and activities to teach the girls to read, which is something we are planning to do with Jess.

So, using the information from these days, we have started to use the flip chart books, sold through Rett University:

 Here is a link to Susan Norwell demonstrating how to use these books:

flip book demo

The first time I showed these to Jess, I showed her how to use them by writing "I love Jess". I wrote the "I" and the "love" using the core word book, and then spelt out "Jess" with the alphabet book. This is what she wrote back:

I was so touched - and amazed! She wrote "love" using the core word book, and spelled "mummy" with the alphabet book. It was such a lovely thing for her to say, it took my breath away and I was just amazed that she was able to communicate it.

Jess has used this system now several times:

This is what Jess wrote on the day her new hospital bed was delivered - she was very excited!!!

Anna is Jess's little sister.

The other amazing news is that Jess has received her first Eye Gaze device. An Eye Gaze Device is a computer that Jess can use by using her eyes to move the cursor, and click in the same way we would use a mouse. The device took over a year from being ordered to arriving (which is very frustrating). We opted for a device that could be mounted on to her wheelchair, so it will be able to always be available to her for communication:

This is the Eye Gaze Device mounted to her wheelchair

I have a few videos of her using the Eye Gaze Device at home. In the first video, she is playing a game where she has to throw snowballs at characters as they appear. In the second video, she has played a game where she has to make a spooky cake, and put creepy toppings on it. The video shows her re-telling what toppings she had put on the cake. This is a major part of being able to communicate - re-telling a story of something that has happened, so I was really impressed that she was able to do this.

This next video was actually taken at school by Jess's Speech Therapist. She is asking Jess what she thinks about the book they have just read, that is sat on her tray. However, I don't think the school knew that this is actually one of Jess's favourite books at home. In the video, Jess repeatedly says "cool" and "great", and then makes a sentence "I think it is cool". I am so proud of her.
 However, this sounds like we are steaming ahead, and everything is good. However, for every example given above, there are numerous times where Jess hasn't managed to communicate  - she's been ill, she's been too tired, she just hasn't been interested. Or I've been too tired, or Anna too grumpy to give Jess the time she needs with me to do it. Integrating all this into our already very full, overtired lives is definitely a challenge and it is going to take us a lot of time to get settled into a new routine with it all. BUT, this is Jess's future - teaching her these skills is the ONE way (bar The Cure for Rett Syndrome) that we can significantly enhance and improve Jess's life, so we have to do it. And we will. I just wish it wasn't so very difficult for us all.
 Through all this, one thing that has shone through, is despite all the medical issues Jess faces, the pain, the discomfort - my little girl is in there. She understands everything, which is amazing to know as it shows she has the skills to further develop her communications skills. But it is also very bittersweet - she is locked in, and everything is so very difficult and frustrating for her.
I wish her life could be easier. 


Saturday, 17 October 2015

I've posted before Here how much Jess enjoys watching Strictly Come Dancing. Well, autumn has arrived, the nights are drawing in and Strictly is back. Jess, Anna and I all had early baths or showers, put our pyjamas on and snuggled up on the sofa to watch.

As always, Jess loved it!!!

Saturday, 10 October 2015

A Good Friend

I blogged here about our friend Sam, who raised an amazing £1055.09 for Rett UK.

We met her originally when she came to work with Jess in her role as a carer. However, she very quickly became like a member of our family and, as well as carrying on working with Jess, also came to family events like birthday parties.

Sam loves Jess, and the feeling is mutual. Sam completely understands Jess, and genuinely enjoys her company and chooses to spend time with her. Equally, I fully trust Sam to look after Jess, and value her opinions and input.

So when Sam said she was leaving the UK to work abroad (in Hawaii, no less!!) and then to go travelling, we had mixed emotions. We are very happy for her, but sorry to be saying goodbye (for a few years at least) to someone who has played such a big part in our lives.

Sam spent three weeks with us over the summer holidays, which I blogged about here helping me to look after the two girls, before she left for her new adventures. It was very sad and emotional saying goodbye. Jess doesn't have many people in her life who genuinely understand her and choose to spend time with her, and who also clearly enjoys being with her. It was such a shame for Jess to be losing someone like Sam from her life. And I will miss her too!!

We do however, wish Sam all the best for her new life and travelling adventures. I'm not sure a visit to Hawaii is possible for Jess unfortunately, but we plan to keep in touch!

Good luck Sam, have lots of fun!!!