Grace for Rett » Grace's Life with Rett Syndrome

Help Grace’s family find a home

Grace is a 5 year old girl in England with Rett syndrome. Her family wants to keep her out of care, so the local government is helping to turn her house into a place she can live with her family for the years to come.

This is currently one of the largest builds going on in the region and due to a series of setbacks and mistakes by the council, this has been a whopping 4 years in the making! Thanks to inflation over these years, Grace’s family is now being strapped with a £20,000 bill towards the job.

So now they not only have a gigantic loan to face, but the prospect of moving out for 2-3 months while the work is being done. The council make no provision for this. There is no place to for Grace’s family to go so they need to raise the money needed to find a place to rent in the area.

Finding this place is no small feat in itself. With two large dogs, school, university and work to attend and a profoundly disabled Grace, just finding this place is going to be a difficult task.

To this end, we’re looking to raise the funds that will be needed to rent a house while Grace’s home is being turned into a place where she can continue to live with her loving family.

Will you help?

P.S. Any funds raised over and above (hopeful thinking!) will be put into the building work.

Rett Syndrome is a Processing Disability [describing the mental side]

Grace fell asleep, so her friend James had a chance to play

Finally! We have found a way to describe the mental disability side of Rett. Obviously, “mental retardation” doesn’t apply to Rett syndrome. Neither does “cognitive impairment” nor “learning disability”.

Yesterday when Grace was having an eye gaze training with Hector from Tobii, he said, “Obviously, eye gaze is more difficult for Grace since in addition to a physical disability, she also has a processing disability.” This very much lines up with Susan Norwell’s description of the most disabling thing about Rett syndrome being apraxia which prevents the girls from turning thoughts into meaningful actions as quickly as the rest of us do.

So there we have it, folks! When it comes to the mind side of things, Rett is a “processing disability”.

Grace’s Upsee Story [video]

Eye Gaze For Our Daughters :: An open letter to the powers that be

Note: a week after writing this letter, Grace was approved for her eye gaze! I have no idea or proof whether the letter had anything to do with it (since no one it was really directed to even responded). But hooray! And now to get her one for home…

“A Well-articulated understanding of legal protections afforded people with disabilities, expression of love and call for compassion make for powerful advocacy. Your letter is the whole package.” -Mickie McCool

“All you are asking is that Grace be treated like any normal child and to be empowered to shape her own learning.  Devices are our only tools to do that at this point. To deny the tools is to deny her the right to develop and shape her thinking and development.” -Steve Kaminsky, Ph.D (Chief Science Officer, IRSF)

The following letter was emailed to all who were present at Grace’s recent eye gaze assessment at school. While many people on her team are on the edge of tears when Grace succeeds, others are cynical and make it clear that from Grace, they require “consistent results” (aka: doing the same thing over and over again to make sure she’s doing it on purpose). I’m posting this letter because, quite simply, it took literally hours to write. I want everyone to have access to these facts and concepts. Feel free to use it if you, too, need to send a strongly worded letter to the powers that be. We must see change. Computers are not going away.

Grace has been given (to the tune of over £25,000):

  • A special bed
  • A wheelchair
  • A chair for activities
  • A standing frame
  • A lycra body suit
  • A sleep system
  • A wheelchair accessible car
  • A bath seat
  • Orthotic aids
  • Feeding tube
  • Feeding pump
  • Monthly deliveries of liquid feed
  • An armchair
  • Money for us to access respite care
  • A monthly disability payment
  • Nothing for communication, emotional dignity or mental wellbeing

I leave you with this…John Lasseter was fired from Disney when he suggested that computers were the future of animation. Technology is the future for our daughters. They need to have it as young as possible. It should not be a provision of the education system, but of the NHS. Girls should get it as a health care aide as young as possible, not as an educational aide once they’ve already missed a few critical years to learn to use it as their first language. If a girl had training from diagnosis, she could be fully communicative by the time they get to school (as we’ve seen happen time and time again in other countries). In America, these computers are provided by health insurance companies, not from the school system.

It’s time to demand change.

Without further ado, I give you the letter…

————————————————

“The most damaging phrase is ‘we’ve always done it this way.’” -Admiral Grace Hopper

Hi all thank you for your time yesterday. I feel so positively about Grace’s interaction with the Tobii and look forward to her future with this being made available to her.

I’m attaching a document from our friend and highly specialised SLT Sally-Ann Garrett who has been working with Rett patients for 30 years. It’s an interesting take on the concept of being ‘ready’ for high tech comm aids. I’m also CCing her in on this email incase anyone feels that her knowledge, expertise or services could be a benefit to Grace or other people in your remit with Rett syndrome. We’re very lucky that she is here in the UK and should make use of her extensive knowledge.

Susan Norwell (USA) is the most inspiring educator one could ever hope to meet. All of the Rett children in her private practice use eye gaze from even as young as 18 months. They use it as they would any language. They read and write and communicate through them. 30 years ago she had a child in her practice who was misdiagnosed as being autistic. So she taught her the same way she would any autistic child. And then they found out it was actually Rett. And so Susan just kept going, despite what was being said about this new disease (that the girls had the mental capacity of a 6 month old).

I’m sure you could tell during the meeting that I’m not thrilled with this idea of the necessity of grasping low tech before advancing to high tech. I don’t like having to always be the one with the loud voice, but Grace is worth fighting for. In my travels and relationships with many therapists, scientist, researchers and clinicians in the specialty of Rett syndrome, one thing which is clear to me is there is a lack of evidence for most of the presumptions and misconceptions that we have about Rett. One of which is that low tech mastery leads to better use of high tech. There is no evidence either way so I would be interested to know how this idea has permeated the field so heavily and why some people in Grace’s team are holding to this.

We must question the things we believe and ask ourselves ‘why’. If this ethos never existed, surely none of us would be living the lives we’re now living. We wouldn’t be driving cars or living in heated homes. We wouldn’t be communicating with computers. And disabled children would still be hidden away in institutions to rot their miserable lives away. In fact, none of your jobs would even exist if someone hadn’t asked ‘why’? Today, one person said to me “there are just these processes we have to go through.” That’s very fine and dandy when you’re building a house. But we’re not asking adults to jump through hoops. You’re asking a 5 year old to jump through hoops. A child with one of the most debilitating diseases that a kid could possibly have. Hoops that no able bodied child would be required to jump through for access to the very same thing that we’re asking for for Grace: a mouse for a computer.

Although they may seem to be the same, one thing (low tech) does not necessarily lead to or connect with the other (high tech) in the brain. They are two different processes with varying interest levels for the child using them, therefore one may seem more/less successful than the other when in fact it just isn’t. We need to shoot for heaven and if we fail, then at least Grace will land amongst the stars. This conservative, even timid, approach isn’t helping her or any child in her position. If it’s inevitable that she will be using eye gaze eventually, then she needs to have it now so she can just get on with it. Poor kid is being asked to work hard for something that should be her right, just like every other child. If nothing else, she should have the same opportunities all other kids in her school do for playing on the computer. Not rocket science…or even communication…just playing. Like everyone else.

I’m concerned with this idea that Grace has a responsibility to perform, prove herself and otherwise show ‘consistent’ results. It would seem that some people in her team are expecting more of her than they would any other 5 year old. This is not her responsibility and it’s archaic to be testing or assessing her in this manner. As I walked through the school today, I saw kids at tables playing on computers. I would be interested to know what levels they were required to consistently perform to before they were granted access to those computers. Was their IQ tested before they were allowed the miracle of a mouse to control a computer? Because this is what we’re fighting for for Grace: a computer mouse. Which she happens to have to control with the only thing on her entire body which she can control (her eyes).

As adults, it’s our responsibility to make the avenues we need to make into her mind, not the other way around. Again, this is archaic. In the words of Steve Kaminsky, “It’s not that the girls aren’t smart enough yet to show us what they know. It’s us who aren’t yet smart enough to find our way in.”

Again, I ask that you all consider being at the Rett Education conference in Birmingham on July 11th. This is the website and agenda. And this is a commercial for it. It is a once in a lifetime opportunity to receive cutting edge information about Rett syndrome and education from Susan Norwell and other groundbreaking educators who have been teaching girls with Rett for 30 years and seeing them succeed at reading, writing, maths…everything their peers are able to do. It is very important to us that everyone who is involved in Grace’s education and communication based therapies take this invitation seriously into consideration. Please let me know the result of your request to attend and we will do what we need to do in order to get anyone there who is available on that date, regardless of whether you are approved for funding to go. It’s only £100. I will gladly pay to see everyone there.

I would like to draw our attention to a few pertinent articles from the UN Conventions on the Rights of the Child (which is being taught to the children in Grace’s school):

Article 13

1. The child shall have the right to freedom of expression; this right shall include freedom to seek, receive and impart information and ideas of all kinds, regardless of frontiers, either orally, in writing or in print, in the form of art, or through any other media of the child’s choice. We are currently Grace’s voice and we are telling you that we choose eye gaze for Grace’s media. 

Article 23

1. States Parties recognise that a mentally or physically disabled child should enjoy a full and decent life, in conditions which ensure dignity, promote self-reliance and facilitate the child’s active participation in the community. Grace is not currently being provided a method for this “full” life of participation.

Article 29

1. States Parties agree that the education of the child shall be directed to:

(a) The development of the child’s personality, talents and mental and physical abilities to their fullest potential. Thanks to advancing technology, low tech is no longer the fullest potential for a child. It simply is not and it’s a waste of time when we see children in America going straight into high tech as babies and soaring. Grace is not currently being provided opportunities to develop her “personality, talents and mental abilities to her fullest potential. 

Article 31

1. States Parties recognise the right of the child to rest and leisure, to engage in play and recreational activities appropriate to the age of the child and to participate freely in cultural life and the arts. Simply put, all Grace’s peers get to play on computers and she doesn’t.

2. States Parties shall respect and promote the right of the child to participate fully in cultural and artistic life and shall encourage the provision of appropriate and equal opportunities for cultural, artistic,recreational and leisure activity. Grace is currently being denied equal opportunity.

Because of the advancement of technology, we must look at eye gaze not as being outside of the remit of tools to help a child realise their full potential but, rather, as being one of the things we must embrace to that end. It is not going away. We cannot fight it simply because it’s expensive. Technology simply must be our first port of call to give disabled children the provision of equal rights and opportunities which the UN convention requires.

Let’s do what needs to be done to finally get this going for Grace. She has shown consistently that on a good day, she’s fantastic at using her eyes. If we’re looking for consistency, then then let’s put that in her notes and get going. I’ve said it before, but no one gets to be on Grace’s team unless they believe in her. Unless you have hard evidence and research to suggest otherwise, I require all members of her team to ‘presume competence’.

Thank you for reading this. Go team!

Heather Clark - May 1, 2014 - 8:58 pm

I’d let every lil one learn whatever they could with any device that could help.. I’ve never tried the eye gaze with Ireland yet but I’d like to now :)

Sally-Ann Garrett - May 1, 2014 - 9:40 pm

Dear Elizabeth, I have posted your blog to my FB page, and encouraged all my friends and contacts to share – this will go viral I am sure. Things have to change. Much love.

Carole Zangari - May 1, 2014 - 9:49 pm

Wanted to share some thoughts on consistency and AAC – http://bit.ly/1gt5U3g

Julie Roach - May 1, 2014 - 10:14 pm

So well written

SALT & LIGHT - Listen, Interact, Give Hope, Teach - May 1, 2014 - 10:15 pm

This is well worth reading and passing on

Mark Allcock - May 1, 2014 - 10:45 pm

Well said

Magdalena Partyła-Wójcik - May 2, 2014 - 10:04 am

Your’re still more “lucky” than us in Poland. At least they gave you all the rehabilitation stuff you need. We have to pay for everything by ourselves, have to ask people for charity, money you’re getting from national heath fund are so small you can almost afford nothing. And most of doctors never heard of RS. Eye gaze? I think most of people think about our girls “they’re too stupid to understand anything”.

Tiffany Wilhite Stalvey - May 13, 2014 - 7:07 pm

Wow! Very well said. We are in the process of getting the Tobbi for our Gracie. Recently, at a meeting her school SLP referred to us getting the Tobbi as silly because it is so expensive and she could use low tech devices. I’m going to forward this to her.

Shona Thomson - June 1, 2014 - 7:34 pm

Thank you so much for writing this Elizabeth, Very helpful, I may steal some of this to give to Emilys school too if that’s ok. have finally got them to give Emily a try on the eye gaze but I fear there is still a way to go with getting them to change their way of thinking that Emily has no understanding, I’m Really not convinced they believe in Emily and I know Emly is never going to achieve things with someone who doesn’t believe in her. things do need to change. And we will change them little by little :)

Rett syndrome research :: NNZ-2566 in plain English

If you follow Rett research closely (or maybe even loosely), this will be a drug name you’re familiar with. My Google analytics tells me it’s one of the most popular searches currently bringing people to this blog so I know you’re out there and looking for information about this potentially groundbreaking new medication and the implications it may have for Rett syndrome.

NNZ-2566 is a medication being developed by the small pharma company Neuren. Neuren is a company in New Zealand which has offices in Australia and the United States. They have special interests in areas of neuroscience where there are gaps in development of treatments. Neuren currently has a growing portfolio on traumatic brain injury, neurodegenerative disorders and neurodevelopment disorders.

There are very few human clinical trials actually going on for Rett syndrome and NNZ-2566 is one of them. The trials are happening in America as we speak.

[What]

So the first question I aim to answer for you is “what is it?” We have a protein prevalent in our bodies called IGF-1. Its function is to help cells grow. It is an important component in the actions of the growth hormone in all of our bodies. In the brain, it helps cells to divide and make synaptic connections from neuron to neuron. However, people with Rett syndrome have issues with their IGF-1 because MeCP2 affects its expression. Now, where NNZ-2566 comes into this mix is this: by looking at the IGF-1 protein and which bits of the whole package could be beneficial in treating Rett, scientists have found that the first 3 amino acids of IGF-1 are what’s needed.

IGF-1 does not readily pass from our circulation into the brain. However, a small piece of IGF-1, called a tripeptide, is able to pass from the blood and into the brain. NNZ-2566 is a synthetic version of the tripeptide that has been modified so that it can be absorbed orally, passing from the digestive tract into the circulation and then into the brain.  Evidence from the laboratory suggests that the tripeptide is the part of IGF-1 that seems to be effective in treating Rett syndrome. A trial of NNZ-2566 is underway in adolescents and adults with Rett Syndrome at Baylor College of Medicine and the University of Alabama. A trial of IGF-1 in young girls is underway at Boston Children’s Hospital.

[How]

NNZ-2566 is delivered as an oral, strawberry flavored liquid whereas IGF-1 has to be injected.

[Contraindications]

Just like any drug, IGF-1 isn’t suitable for everyone. When growth hormones are given after puberty, they can cause continued bone growth so there’s a window of time when this could be administered as a treatment. However, NNZ-2566, which is a peptide and not the whole protein, does not appear to have those same issues. The clinical trial with NNZ-2566 is designed to show that it is suitable for teenagers and adults with Rett. This means NNZ-2566 could have the potential to be suitable for anyone with Rett at any period of their life, something that no other suggested treatment we’ve ever seen can claim.

[The Benefits]

NNZ-2566 is an easy, strawberry flavoured liquid that crosses the brain/blood barrier.

You may remember a while back, I posted about gene therapy and the post said that, while treatment with vectors is an interesting idea, there are great challenges. That these methods were like using a shotgun when what we need is a sniper rifle.

Well, IGF-1 is like a sniper rifle. Through the current trials, scientists are hoping to deliver more growth enhancers into the central nervous system which gets right to the central problem immediately, bypassing the need to deliver a new gene with a vector and hope it is expressed to correct the defective MeCP2.

But of course, I’ve already mentioned that IGF-1 needs to be injected while NNZ-2566 is an oral medication to hopefully deliver the exact same results and be potentially suitable for  any age.

[The Challenges]

Like every current suggested method for the treatment of Rett, there are a few challenges to face.  The fundamental challenge with NNZ-2566 is that it is new drug, and new drugs have to go through a lot of rigorous testing before they can be used on all age groups.  Since NNZ-2566 was developed by Neuren for traumatic brain injury, it has had a sizable amount of safety testing already completed and has been shown to be generally safe and well tolerated by adult human subjects. However, this fact does not remove the need for safety evaluation in Rett patients.

[Current Studies]

NNZ-2566 is currently being studied in human clinical trials for both Rett syndrome and traumatic brain injury. Both conditions have something in common in that there are weak synapses in the brain. A study in Fragile X syndrome is scheduled to begin shortly.

Phase 1 (the safety tests) have been completed. We know that it’s a well-tolerated drug.

Phase 2A began in May 2013 and hopes to end in September this year. These are currently being undertaken at Baylor College of Medicine with Drs. Dan Glaze and Jeff Neul and at the University of Alabama – Birmingham with Dr. Alan Percy. This trial consists of 60 participants between the ages of 16-45.

The Phase 2 study examines the safety profile, looking for unexpected adverse changes, deterioration or anything that wouldn’t be expected in the natural progression of Rett syndrome. This is where the ongoing Natural History Study adds value. Unless we study Rett in the long run and learn what happens and the effects we can expect, it’s difficult to measure the effectiveness of drugs we want to trial for Rett. The data extracted during the Natural History Study gives us baselines of what to expect so that during these types of trials, we can know what would normally have been expected and gives scientists a greater base of knowledge for use when monitoring such trials.

This phase is also measuring efficacy (effectiveness).

Based on the tests with mouse models, we’re hoping to see improvements in breathing and cardiac function, and decreases in seizures. The patients are also being observed for changes in many other behaviors.

[The Next Step]

The next step for NNZ-2566 will be proof of concept studies in the pediatric population. Remember, the youngest person in the current study is 16 years old because the FDA guidelines are such that a drug usually cannot be tested on juveniles until the trial has first been successful with adults (when adult patients are available).

[Funding]

This is where partnerships are incredibly important. IRSF started the Baylor study with a $600,000 ANGEL grant to get it going, but this doesn’t even come close to covering the cost. Partnership with Neuren is extremely important to bring more resources to the table for these trials.

[Considering a Trial?]

It’s very important to fully understand the implications of putting your child into a clinical trial. Please view this document from IRSF on safety in Rett Syndrome trials.

This post was made possible by contributions from:

  • Steve Kaminsky, Ph.D. – Chief Science Officer, IRSF
  • Janice Ascano, Ph.D. – Manager of Grants and Research, IRSF
  • Nancy Jones, Ph. D. - Senior Director, Clinical Development and Medical Affairs at Neuren Pharmaceuticals

Heather Clark - April 19, 2014 - 2:25 am

Wow sounds exciting to see all results and see how the girls do long term:)

Bev Glaus - April 21, 2014 - 1:36 pm

Hi Jill..very interesting ..keep our fingers crossed ..love Dad

Linda Alvarez - April 22, 2014 - 4:09 am

So many scientists are hopeful that our girls can be helped and live near normal lives within the next decade,,,,Every time I see one of our kiddos contributing their time and energy being an ambassador to get the word out about Rett’s and to bring science one step closer to the cure, I think to myself,” Natalie, look what you (and your family) have to done to CHANGE THE WORLD! You can’t speak or move, and you may be one of the people who open up a whole new scientific protocol to allow MILLIONS of people a better quality of life!” Natters, you are a HERO! I look up to you, Girl! Even if technically you are my baby girl. You are doing something heroic for humankind! Most of us can’t claim that, Sweetheart! You’re doing good work! Proud of you!

Teresa McLoud Bower - April 22, 2014 - 5:49 am

I am excited to see the out come of all the testing they have done. Our kiddos need a cure.

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