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!!!

Saturday, 26 September 2015

Children grow!

Children grow. As they get older, they tend to get bigger. I don't think anyone should be surprised by these facts.

For the average family, when children have a growth spurt I assume the parents just visit the shops of their choice and expect a larger than normal credit card bill at the end of the month.

For us it is not that simple. Jess has had a massive growth spurt. So much so, that her dietician has reduced the calorie intake that she receives through her jejostomy feed. So much so, that not only has she grown out of all her clothes, but also all of her equipment, like her wheelchair, her hoist slings, her sleep system and, very nearly, her bed. She has already needed a new rigid spinal brace and foot splints.

But it seems the public sector is just not set up to accommodate growing children.

Imagine if your child had grown out of his shoes, so you took them to the only shoe shop available to you. Imagine then, if the shoe shop said:

"Yes, we have shoes in all designs and sizes, there is bound to be something for you. However, you can't have any new shoes until we've measured your child's feet and there is a 12 month wait for measuring. We'll be in touch when you can bring your child in to be measured."

Hmmmm. That's kind of the position we are finding ourselves in with equipment provided by Social Services.

The NHS works slightly differently, but with similarly frustrating results. They seem to carry out the assessments reasonably quickly, but by the time the request for the equipment has been approved, the finances processed, the equipment ordered, delivered and then a rep has been out to set it up,  9-12 months may easily have passed. By which time the child has probably grown again and the new piece of equipment is already too small. This has happened to us on at least two occasions, with very expensive pieces of equipment.

If you follow this through to its logical conclusion, it means you always need to be requesting equipment two pieces in advance.

However, to actually do that would, first of all, be ridiculous and secondly would place even more pressure on an already overburdened system.

There is no obvious answer to this very frustrating process!! 

Monday, 14 September 2015

Seven Weeks

Jess's school had seven weeks of school holidays this summer.
Seven weeks with a child who can't do anything independently to entertain themselves is a long time.
Seven weeks with a child who might be up for 20 hours out of every 24, is a long time. That's a lot of entertainment to provide. That's a lot of Peppa Pig and Disney's "Frozen".
But we survived!
The first week, we went to stay with the girls' grandparents in Devon, where we had some fun days out:

The next three weeks, we had a carer, Sam, working with us, whom I've mentioned before on this blog here as she has raised a lot of money for Rett UK.
On the second week of the holidays, Sam and Jess went together to attend a week-long workshop run by the Chickenshed Theatre Company. Chickenshed is an inclusive theatre group, who in the holidays run workshops for children. There were 85 children on the workshop, of which several had special needs or disabilities. It was an amazing week, with lots of arts and crafts (not usually Jess's favourite activity, to be honest) and lots of music and dancing (which she loved), all building up to the group putting on a performance for family and friends on the Friday afternoon.
The show was amazing - the talent and effort of all the children was breath-taking - but I think the real success was the rest of the week. Jess loved being included in such a big group of children, and I think the other children benefited from spending time with her as well. Sam said that even from the beginning of the week, the other children were very interested in Jess, and asking a lot of questions. By the end of the week, they were actively looking out for her, making sure she could see, that there was space for her wheelchair in the circle, and were able to understand some of Jess's communication to help her to be included. I think this would have been a valuable experience for the other kids to develop alternative communication skills, and the awareness that everyone is different but can contribute, as well as empathy.
Jess and Sam after their Chickenshed performance

The next two weeks we spent at home, some days chilling out - long baths for Jess (which she loves but doesn't always have time for) and time in the garden, as well as some fun days out. We went to a fair:

We went to the butterfly exhibition that was on at The Natural History Museum:

The butterfly thought Jess's hairclip was a flower!

We also went to see The Gruffalo live on stage:

We then had a two week holiday in France, which deserves a post all of its own. I will try to write that soon!

The final week of the holidays we spent at home, catching up with things and getting ready for the return to our normal routines.
This describes the fun things we did. It does not cover having to go to Great Ormond Street Hospital four days in a row for appointments, the ridiculous length of time spent waiting around in various pharmacies for medication and the vast amount of time spent organising everything that had to be in place to take a child with all of Jess's needs to France for 2 weeks. It does not cover all the lifting of Jess that we had to do for her to participate in activities, and the difficulties we had changing her nappy when we were out and about.
I feel I spent the whole seven weeks telling Anna to "just wait a minute" while I attended to Jess, and she clearly missed the time with me one-on-one that she has when Jess is at school. Unfortunately, this resulted in more attention-seeking behaviour, which just resulted in me saying "just wait a minute" even more. A vicious circle.
Seven weeks is a long time. I found it quite hard work - trying simultaneously to meet the very different needs of my two daughters, and make sure they both enjoyed the holidays, as well as carrying on with the normal demands of keeping on top of Jess's medical appointments and management.
But we survived! And I think the girls enjoyed the majority of their holidays (although when told we had to go the the chemist for umpteenth time, Anna did exclaim "not again!") However, Jess is back at school and settling really well into her new class. Normality has also returned for Anna - nursery, swimming lessons, ballet classes as well as time with me.
And I've had my first morning child-free in 2 months, when Anna was at nursery and Jess was back at school!! I went back to bed for nap.

Saturday, 18 July 2015



Siblings of children with special needs or disabilities have a unique childhood.  Anna is Jess's little sister and has just turned 3. Occasionally she comes out with something that makes us do a double take:

When an ambulance goes by with it's siren on, Anna asks if Jess is inside it.

When Anna plays 'Doctors and Nurses' at nursery, she tries to give the other children medicine into their tummy buttons [Jess has all her medicines into her gastrostomy]

When she plays 'Doctors and Nurses' at home, the plastic forceps in her medical kit is out on the patient's finger like an oxygen saturation probe.
please note the "oxygen Probe"!!
When told that Jess has a hospital appointment, Anna expresses a preference as to which hospital and ward she would like Jess's appointment to be on, depending on which toys in which playroom she would most like to play with that day.

When Anna hurts herself, even if it is just a tiny scratch, she will try and work out who can come to look after Jess, while I take her to the hospital.
But Anna is also very caring towards Jess. If she is at nursery or at a party, and there are presents or cakes being given out, Anna will always ask for an extra one for her sister. Anna will always come and get me,if I'm not in the room and Jess is upset. She will also go up to Jess and ask her if she is OK, and she very often wants to help when we are looking after Jess, by helping us set up her feed, or helping her get dressed. It is lovely watching their relationship develop, and both enjoy singing and dancing sessions together [with Jess in either her wheelchair or the hoist] and watching "Frozen" many times over.



Tuesday, 7 July 2015

Learning to read

It is four years ago this week that Jess was officially diagnosed. The last few years have been so incredibly difficult, and I think we are still adjusting to how completely, utterly different our life is, compared to what we anticipated.

If you had told me 6 years ago that my daughter may have to learn to communicate with us using an Eye Gaze Computer, I would have been devastated. Yet now this looks like an actual possibility, I am ecstatic.

From early on, both myself and my husband have been sure that Jess understood most of what we said to her, and, given the opportunity and the ability, she could demonstrate this. For example, just after Jess was diagnosed, she would often choose the same bedtime book. The last page of the book contained pictures of lots of different animals at a party, and when we asked her where each animal was,she would either reach out with a hand, or lean forward and touch the correct animal with her nose. However, you have to give Jess extra time to respond, and you have to look for her response, as it may not always be obvious. This can mean that not everyone  who meets her, believes that Jess is fully aware of her environment and what goes on around her.

However, last year I heard the amazing Susan Norwell speak at the Rett Education conference. She showed a communication technique using a low tech device which I was able to make at home. It was a flip chart with the alphabet on it, as well as YES and NO symbols.

 I use this device by going through each page individually with Jess, asking if the letter she wants is on the page facing her, and getting her to indicate YES or NO using the symbols. Then when she says YES, we go through letter individually, and get Jess to indicate when we get to the letter she wants, again using the YES and NO symbols. When she has identified the letter she wants, we write it on the whiteboard.

The first time we used this, I showed her how to use it by spelling her name [Jess, not Jessica - I felt that may be asking too much!] I did the 'J' and the 'E', and then she did the 'S' and the second 'S' on her own! She already knew how to spell her name and just needed a way to express it.

Jess and I showed the Speech Therapist at her school how Jess could spell her name. She was amazed, and immediately put into motion what needed to be done to order Jess her own Eye Gaze Computer, as this provided her with enough evidence that Jess would be able to use it to it's full potential. Given how slowly everything in the public sector usually works, Jess hasn't yet got the computer, but we have been reassured that she will get it soon.

In the meantime, Jess' school have been doing lots of work with her, teaching her the letters of the alphabet, phonics, and spelling. She is doing so, so well. Every week we get a message home from school saying how well she is doing:

"Jess did fabulously with the letter 'T' again today"
"A great [letter] 'D' session today"
"Today we continued with the 'M' sound. Jess now knows all of the words that start with the letter 'M' and will indicate YES or NO, when asked 'does __ start with the letter M?' She scored 12 out of 13!"
"Correctly finding 'A' things in the magic box. Really good eye pointing, and looking back to tell me YES or NO. Watched us modelling writing 'A' words, very vocal and animated session" 
"Brilliant 'S' work today. Really laughed at Spot the Dog, and our real snail in the garden. Jess had some strawberries as well! Fantastic Jess, you are a star!"
"Found all the 'D' words. Looked back at me and smiled and giggled. Not confused at all. A really good animated, and focused session today. Well done Jess".

Every week the school are doing a different letter. Some of the sessions are with the Speech Therapist and some are with the teaching staff in her class. However, I think the sessions that Jess enjoys most are the ones where she works with children from the mainstream school that her school is attached to. The staff have created a little study group for Jess, where a group of children from the mainstream school next door to her school come and work with Jess, and spend time doing activities around whatever letter Jess is working on that week. The children understand how Jess communicates, and the staff say that she is even more motivated than normal in these sessions.

I have to say that two years ago when we were looking at schools for Jess, this is exactly what we wanted for Jess. A school that believes in her, and can see her potential, and will work to make sure she achieves this. And a school that gives her time and interaction with the children from the mainstream school- this was, and is, so important to us.

Jess is so amazing, she copes with so much, and yet thrives. We are so very proud of her.

Saturday, 23 May 2015

There was a LOT of mud...

I blogged here about how our friend Sam and her father were planning to complete a Nuclear Run to raise money for Rett UK. Rett UK is a charity very close to our hearts, and has given us a lot of support, even before Jess was formally diagnosed.

The Nuclear Run that Sam and her family ran was just under 8km long with VERY muddy obstacles to overcome. BUT they did it!!!! And raised nearly £1000 in the process!!!!

We went to watch, and can vouch that this was not an easy run. However, Jess had a lovely day - we set ourselves up next to the last obstacle, which was a 10foot slide into a waist deep pit of mud. Jess found it hilarious watching everyone fall into the mud - especially those who went down the slide very fast, and splashed her with mud, and  those who swore very loudly as they slid down!!! That sums up her sense of humour!!!

We are so touched that Sam and her family decided to do this in honour of Jess. If you would like to donate to say WELL DONE, and help get that total to an amazing £1000, the link to Sam's Just Giving page is here.

Wednesday, 20 May 2015

Vulnerable and scared

Back in 2011 my husband and I watched a Panorama programme highlighting the abuse of patients with learning difficulties at a hospital called Winterbourne View

At this time, we knew that there was something wrong with Jess, but we had no idea that it was Rett Syndrome. The programme was incredibly distressing. Firstly, because what happened in that hospital was appalling, but also because we had no idea of what Jess's future held, and the idea of her being subjected to such treatment was heart-breaking.

Winterbourne View was a Treatment and Assessment Unit for people with learning disabilities and challenging behaviours. These people will have usually been admitted to these units by law, often miles away from their families and friends.

I can't imagine being a parent of a child where, under the law, all your rights and input into how (and where in the country) you want your vulnerable child (or young adult) to be cared for are taken away from you. And then to find out that they weren't even safe there, or treated with dignity and respect, must be soul-destroying.

Since the investigation into events at Winterbourne View, Mencap have launched a campaign to stop people being moved far away from their families and homes and put into institutions for the purpose of assessment and treatment. This is widely supported by families. However, it is still happening, and their are many examples out there of families in this position. Some examples are of this family, where it was actually ruled in retrospect that the young man's detention had been unlawful. Another tragic example is here, where a young man was admitted to Treatment and Assessment Unit, against both his and his family's wishes. He was known to be epileptic, and it was clearly stated in his care plan that he was not to be left unattended when in the bath in case he had a seizure. Well, he was and he did, and he died.
Since then, another campaign has been launched in this young man's name, trying to change the way people with learning difficulties are treated. You can read more about it and pledge your support  here  for the proposed LB Bill, which will hopefully be passed in  Parliment very soon.

As families of very vulnerable children, a lot of whom are non-verbal and cannot say if anything detrimental has happened to them, we have to trust those who are responsible for their care when we are not with them. This can be carers in the home, at a respite centre, at an Assessment and Treatment Centre, or at school. We often don't get a choice where our children go for these services, and we hardly ever get a say in who is providing any care on an individual level. So imagine my horror when I read this blog about how a 12 year old with autism (and some physical disabilities) was the recipient of a "spit hood" whilst at school. If you don't know what that is (and I didn't, and I wish I still hadn't heard of it), please read the blog. A warning though, it is a difficult read, and I was in tears at the end of it.

Jess is never going to display aggressive or challenging behaviours in the way some children and adults with learning difficulties or autism do, so I feel it is unlikely that she is ever going to be restrained or sectioned under the Mental Capacity Act . There is not much that is positive about a Rett Syndrome as compared with other disorders, but that is certainly one plus.

However, all these examples just demonstrate how very vulnerable our children are, and how dependent we, as their families, are on outside agencies who don't always get it right, and who sometimes get it very very wrong. And that is very very frightening.


Thursday, 14 May 2015

Fundraising... For Rett Uk

Sam , a good friend of Jess' (and the rest of our family!) is doing a Nuclear Run to raise money for Rett UK. A Nuclear Run is 7km long and involves over 50 obstacles, most of which seem to involve a lot of mud and freezing cold water!

Rett UK is a charity very close to our hearts, and has been an invaluable source of support for us. If you feel able to, and wanted to support Sam, then you can find her Just Giving page Here.

Sunday, 10 May 2015

A Burden?

A friend of mine who blogs here wrote about myself and jess on her blog. She is very honest in her writing, and in being so honest, raised some very difficult questions. At her request, I wrote a post which she has since published on her blog:
"I have previously written on my blog here about if disabled children and those with special needs place a burden on society. However, Celia, in her blog asked if having a disabled child is a burden to me, her mother.
My daughter has Rett Syndrome. This is a condition where children (mainly girls) develop normally for their first 12-18 months and then begin to regress, losing the skills they have already acquired such as walking and talking. They end up being profoundly disabled- my daughter is 5 years old. She cannot walk, talk, use her hands or control her movements. She is fed through a tube that goes into her bowel and has her medication administered through a tube into her stomach. She has severe reflux, her spine is curving and she has to wear a rigid spinal brace, she has seizures which cause her to stop breathing, and we have to carry oxygen around with us at all times. She needs 24 hour care for all her needs and will for her entire life.
Is she a burden to us? What I will say is it is hard work being her parents. The level of care she needs, and all the background work takes up all my time, such as the ridiculous number of appointments we have, making sure we have enough feed, medications, nappies and equipment at all times. Her needs are very unpredictable- I regularly receive a phone call from her school to say they have called an ambulance for her. Equally, she has severe sleep disturbances- for example, I went to bed at 10pm last night, and Jess got up for the day at midnight. All these factors do not make for an easy life. I have had to give up a much loved career in order to care for her.
Historically, girls with Rett Syndrome were thought to be severely disabled with severe learning difficulties. However, new developments and new technology are demonstrating that they do not have severe learning difficulties, they are "locked in" and unable to express themselves due to their physical disabilities. They DO understand what is going on around them. One exciting piece of technology is the Eye Gaze computers, where the girls with Rett Syndrome can move the curser with their eyes, just as we would with use the computer mouse. There are girls in America (where eye gaze technology has been used for a lot longer) in mainstream schools sitting (and passing!) mainstream exams.
I know that my daughter understands everything, and her communication (she doesn't yet have an eye gaze device, but it has been ordered) whilst subtle, is there. She can spell her name and her sister's name, and she clearly demonstrates her likes, dislikes, wishes, choices and love for us. For example, her dad was on he the phone the other day and I had put him on loud speaker, and Jess started blowing kisses down the phone. I know she understands, and that she loves us. And we love her. Very much.
We understand Jess, and the amount of input and love we get back from her, makes everything we do for her worth while.  However, I know parents of children with other conditions who do not have the same level of feedback and love from their child- they may have severe brain damage, or challenging aggressive behaviours. And yet they still love their child, and want the best for them and work hard to achieve this. Lots of people talk about the love you feel for your child being unconditional and it's the same if they are disabled or have special needs. As a parent, we all have the same very basic hopes for our children- that they will be happy, they will achieve to their full potential and any hurt or pain they suffer in this life is minimal.
Jess herself is not a burden. However the burden of responsibility on us as her parents is huge. The effort of just looking after her on a day-to-day basis can be overwhelming, and the responsibility to make sure that she enjoys her life and is as pain free as possible, given all her various physical problems is not insignificant. We go out of our way to make sure she enjoys a wide variety of experiences. For example we are very conscious that we have a window of opportunity while she is small to do things like Alton Towers and Disney World, while she is a size that we can lift her onto the rides. She absolutely loves things like that, and it breaks our heart that we are not going to be able to take her on things like this for much longer.
The other huge task is to make sure that others around her- family, peers, school, carers etc understand her, and include her, and that she has all she needs (including correct medical management and equipment such as the eye gaze device) to achieve everything she can, and be as happy as she can be in her life.
 We are just parents, like any other parent, trying to do the best for our child. It's just, for us, it is very difficult, exhausting, lonely and heartbreaking.
Research has shown that there is a possibility that Rett syndrome may be curable in the future. Scientists have demonstrated in mice that if the abnormal protein levels found in the bodies of girls with Rett syndrome are corrected, the symptoms of Rett Syndrome disappear. This research is moving at an astounding rate and it is thought that Rett Syndrome may be the first condition of its kind to be cured.
How amazing would that be???"

Thursday, 30 April 2015

A health update

A health update.....

I've not been updating this blog very often recently (for no particular reason)so I thought I would post a general update regarding Jessica's health.

I wrote here that in August we stopped Jess wearing her rigid spinal brace as it was exacerbating her reflux too much, and she was vomiting a lot. Without the brace, she wasn't vomiting as much, but was still bringing some stomach contents into her mouth, and we think she was frequently aspirating tiny amounts of stomach contents into her lungs.

Whilst this wasn't causing her significant issues from a chest infection perspective as she was never admitted to hospital for her chest or needed oxygen etc, (although clearly it's never great to be aspirating stomach contents!) what it did cause was her seizures to become very uncontrolled, which required her to be frequently admitted to hospital.

Previous to this, Jess had been quite stable on Epilim. Since this drug was started, she rarely had any seizures at night (up to that point she had only had nocturnal seizures) and all her other strange nighttime behaviours had calmed down. However, we have discovered that even the tiniest infection can cause Jess to start having seizures. It may be so minor an infection that on several occasions we haven't even realised anything was going on and the seizure was the first indication that something was wrong (it is a bit scary when your child stopping breathing with a seizure is the first sign of a separate health problem).

So, last September, when we thought Jess was constantly aspirating due to her reflux, her seizures went crazy. At least once a week Jess was being "blue lighted" to A&E in the back of an ambulance. The school would ring me to say she'd had a seizure and hadn't woken up - I would be at home, on the bus, in the pool for Anna's swimming lesson....  And then I would have to rush either to the school, or to A&E while keeping Anna calm and occupied.

We had assumed that Jess would need to have a Nissen's fundoplication in order to get control of her reflux (she was already on over maximum doses of reflux medication). This was not a surgical procedure we were exactly enthusiastic about, but we were resigned that it would be what she needed. However, Jess's consultant also wasn't keen, and wasn't sure it was the right procedure for Jess, and recommended we change her gastrostomy to a gastrostomy/jejostomy. This means that her feed goes into the jejostomy, which goes into the jejunum, below the stomach, meaning it shouldn't come back up. Her medication continues to be administered through the gastrostomy.

This has made a massive difference to Jess. Her feed now runs, very slowly over 19 hours, into her jejunum. She is allowed small amounts of oral feed - up to 15 spoonfuls (we tend to give this at lunchtime as breakfast is too rushed, and she is too tired in the evenings) which is more for her enjoyment than for nutrition.  And she does really enjoy it.

With this plan Jess's reflux seems under control and, as long as she is otherwise well, her seizures are also stable. She is also tolerating her rigid spinal brace again -most days anyway- and she will be reviewed in June to see if not wearing the brace for 9 months has caused a significant deterioration of her scoliosis.

However, nothing with Rett's is simple. We are now left with one major health issue that needs addressing -Jess' SEVERE sleep disturbance. Sleep has always been a massive issue for Jess (and us!). She has been seen by various specialists- since before she even had her Rett's diagnosis. However, every specialist has said we have to get on top of her reflux, her seizures, her breathing (Jess had her tonsils and adenoids out as she had sleep apnoeas due to her tonsils being too large) to ensure that these are not causing any of her sleep issues. Now is the first time we can say that all those conditions are finally under control and what we are left with is a true sleep disturbance.

Jess goes to bed on an adult dose of Melatonin. Without this, she cannot fall asleep. She will then sleep for a few hours, but will then wake and will usually stay awake for the rest of the night. The earliest she has woken is 23:30 (on the same day she went to bed!) but she will commonly wake anywhere between midnight and 0300. When she wakes like this, she is often distressed and clearly still tired, wanting to fall asleep again. She may doze off, but it is for seconds, before her body jolts her awake again.

This is so hard on the whole family. We are exhausted and shattered. I am regularly surviving (or not?) on less than 4 hours' sleep, and then having a hyperactive 2 year old to look after in the daytime. This is not sustainable, and I am having some serious health problems directly related to my sleep deprivation.

However, there may be light at the end of the tunnel. Prompted by my own health issues, and the fact that we have now ruled out any other cause for Jess's sleep disturbances, the doctors are now taking it seriously. Jess has been referred to a sleep clinic, and they are discussing starting her on proper night sedation in the meantime.

This lack of sleep has, for me, been pretty much the hardest thing to cope with out of everything Rett Syndrome has thrown at us. You can cope with so much more, so much better, when you have had enough sleep, and I will admit that I was in tears of relief when the doctors said they would consider sedation for Jessica. After nearly six years, this hell for me may be over, and I may get a semblance of my life back.

But it's not just about me, Jess needs more sleep too. She is tired, and you can tell she is far more able to concentrate, communicate, do her physio exercises, tolerate the spinal brace etc when she has had a good night's sleep.

Hopefully, the sleep issue will be addressed soon, and I feel we will then have made significant progress in dealing with the Rett symptoms that causes us the most problems and Jess the most distress.

Tuesday, 31 March 2015


I can't believe how quickly this year is passing. Or how long it has been since I last posted on this blog.

However, we have certainly been busy as we have had a lot of building work done and all our adaptations have now been completed. We now have a level entrance into our front door, two ceiling hoists (one downstairs, and one upstairs), a through-floor lift, a bath trolley and a special armchair. We also now have some outdoor space where Jess can sit in the back garden.

I cannot explain what a difference all this has made to our lives. I was struggling so much with lifting Jess - in and out of her wheelchair, up and down the stairs, in and out of the bath etc. Having all this equipment has really enhanced our lives, and it makes everything we have to do as part of our daily routine so much safer, for both us and Jess.

                                                                 Jess's bedroom

Work in Jess's bedroom

 Jess's room with the lift downstairs
The bath trolley in its lowered position
Jess in the hoist after a bath
                                                              The front door:
before - step to take the wheelchair over
after - level entrance

The through-floor lift:

The lift

Jess going up in the lift

There was a lot of cleaning!!

Our new garden:

The main garden is accessed by steps,
 which we cannot get Jess down so the new decked area provides her with
 some outdoor space to enjoy.

Jess's new armchair:

Jess chose the design

 A very happy Jess!!!!