Archive | January, 2015

Do Something Good Today – Morquio Syndrome

29 Jan

Tia2

This little beauty is Tia (no, not the pony!)

Kamal.1

This is Kamal – how could anyone resist that grin?

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And here is Sam, what a cutie.

They all have something in common, they have Morquio Syndrome.

They have what? I hear you say. Well, that’s what I said too, but then I got to know the mum of one of these gorgeous children and the story behind these smiles is a frightening one.

Basically, Morquio is what is termed an Ultra Rare Condition (also known as an Ultra Orphan Disease) and there are fewer than 120 sufferers in the whole of the UK. A person with Morquio starts to show symptoms usually around age 2-3 when their skeleton doesn’t grow at the same rate as their internal organs and problems start. I’m no medical expert so please excuse me for copying some relevant facts about the sort of things people with this condition have to deal with:-

Skeletal deformities
Breathing problems
Short trunk
Heart valve problems
Weakness in the neck
Muscle weakness
Spinal cord compression
Eye problems
Knock knees
Hearing loss
Overly flexible joints
Dental problems
Abnormal walk
Enlarged liver
Spinal problems
Enlarged spleen
Chest deformities
Limited energy
Or, as this paragraph says it:-
Morquio A (also called MPS IVA) is an inherited condition that affects major organ systems in the body. People born with Morquio A are missing or don’t make enough of an important enzyme and, as a result, they can’t break down certain materials in the body. These materials eventually build up in tissues, bones, and major organ systems. Morquio A can cause potentially serious problems, including heart disease, skeletal abnormalities, vision and hearing loss, difficulty breathing, and early death.
Not much to smile about eh? Well, you can see by the photos above that having Morquio does not stop these young people from enjoying themselves. They are just like any other children, they have school, friends, homework, and out of school activities like swimming, drama and football. What they also have is exhaustion, pain, and frustration, and that’s just the tip of the iceberg.
Well, into the mix comes a wonder drug called Vimizim. A weekly infusion of this can – and does – seriously improve their quality of life. Using Vimizim means that they are less tired, less dependent on their wheelchairs, and overall in better shape. It helps them to breathe more easily, and there is a very real possibility that it will prolong life. It’s not some placebo that has been shown not to work, it makes a measurable and encouraging difference to life.
Now, if these children had, say, cystic fibrosis, which unfortunately is quite common, their treatment would be funded. I know with CF that a lot of the physiotherapy can and is done at home, but I also know there are way too many hospital and clinic appointments involved in ensuring that a person with CF gets the best possible chance at a good life, and the treatments have been shown to work, with the life span of CF sufferers rising all the time.
So if I told you that people with Morquio are being told that a life-enhancing and in all likelihood life-lengthening drug is seriously under threat of being withdrawn, what message would that send? Personally I feel that it’s telling people with Morquio (and bear in mind some of these are adults who have independent lives and contribute to our economy by holding down good jobs) that their lives are somehow worth less than the lives of others. How can that possibly be right? Or morally acceptable? These people aren’t asking for fancier wheels on their wheelchairs or anything that could possibly be seen as an “extra”, they just want the chance to live the best and fullest lives they can, in as little pain as possible, and, in the case of the children pictured above and others like them, to have the chance to grow up into the adults they deserve to be.
The NHS has not yet even bothered responding to the drug company, and obviously it is vital that they do so in order to ensure the continued supply of this essential medication.
So I’m asking you to help. To help Tia, and Kamal, and Sam, and all the other 120 people in the UK that live with this condition, and for the time it takes for your kettle to boil, or probably even less, please read and sign this petition.
The more people that have signed, the greater the weight this petition will have, it’s that simple.
If you have Facebook then please use the link on the petition to share it and ask your friends to sign. Please share it on Twitter as well, we need the numbers to make a difference. I’ve heard it said that the way to judge a nation is by how it treats the most vulnerable in its society. Let us show the powers that be that we judge all humans to be born equal and to have the right to what their country’s health care can provide, without prejudice.
Thanks for reading.
Information about Morquio taken from http://www.vimizim.com
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Regression

25 Jan

It’s not been a great January so far. The weather has meant two separate days when we’ve woken up to an announcement of no school, and that has played havoc with M’s routine. She has a new class teacher and a new head teacher, both of whom she seems to actively like, but the ripples from the pebbles that have been thrown in her emotional pond have been far-reaching.

The instances of shouting, screaming and hitting out have increased substantially – and bearing in mind December and the run-up to Christmas were no picnic – this is not insignificant. M has resorted to baby talk, increased use of her dummy (soother) when at home, as well as her cuddly toys and sensory items like her weighted blanket and her fleece blankets. She is always clingy to me but this has also increased, to the point I sometimes I feel I am in danger of suffocating under the weight of her need for me.

I guess I didn’t help matters by “abandoning” her for an overnight stay in Glasgow when I drove E back to university on the day of my birthday. I had a fantastic weekend, including a cinema trip and some shopping time, as well as the pleasure of one to one time with my eldest child. I have been paying for it with heartfelt comments and tears ever since.

M’s termly review meeting was last week and it was a good chance to let the staff know just how bad things had been at home. There is a new SfL (Support for Learning) teacher who comes in once a week and seems to know her stuff; she suggested several ways to try and improve things for M, all of which we will be putting into practice. One of them includes re-connecting with SaLT and making M a visual timetable for her entire week, in colour, that she can keep with her in an aid to lessen anxiety, along with a plan to sign the whole school. As language is the first thing to disappear when M is overwrought, the idea is to bring even a small measure of comfort by giving her the most access to converse as they can, and of course it means that there is more of a level playing field for any other children who may struggle, now or in the future.

As well as M, we discussed B, her brother, who is struggling himself. He can’t seem to let go of the fact that fate has given him a sibling with autism and he needs to make allowances. He is quite an angry wee man and there are more plans in place now to help him deal with his emotions around all this.

Coupled with R’s increasing anxiety about his forthcoming pre-lims and some very real concerns about his twin’s health (more of that another time) this isn’t a month I shall be sorry to see the back of.

Not everything is bad news; I am enjoying escaping to write some more of my book, and have also been happily connecting with more writers on twitter and other social media, finding out that the peculiarities I have thought personal to me are perhaps more of a widespread curse on writers in general and maybe I’m not actually going totally mad.

And the days are finally getting longer! It is such a relief to look out of the window at 4 pm and to still see the beach.

Here’s a little picture of M on Christmas Day.

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