SMARD- Read Louie's story

It's Rare Disease Day next month, which I always try and do a couple of feature posts on. They are of course usually about EDS or HMS, but this time it's something different.

This post is about Louie, the smiley little boy below.

Louie is almost three years old. He is son to Natalie and Reece and very proud older brother to Charlie. He like watching Disney films, being read to, going swimming and playing on an ipad, just like most other boys his age.

As you can just about see in the photo, Louie has a tracheostomy. This is because he has a rare genetic condition called SMARD- spinal muscular atrophy with respiratory distress.

Some background on SMARD from http://www.actsma.co.uk/page/smard :

SMARD is a neuromuscular disease which causes progressive weakness of the muscles and severe respiratory distress, due to paralysis of the diaphragm, which tends to be the first noticeable symptom.  This is caused by a breakdown of the link between the brain and the muscles due to affected nerve cells.

Some signs may be present before birth, with the mother noticing less fetal movement than that of a healthy baby.   Most SMARD patients will experience respiratory failure within their first six months of life, and go on to require artificial ventilation.  Symptoms seem to appear in reverse order to that of SMA Type 1, with respiratory problems coming first, followed by severe muscle weakness, especially in the lower limbs.  

Health typically deteriorates very quickly by the age of 2, but there is such a range of severity that different cases are picked up at different ages and progression can vary greatly

 Both Louie's mum and dad carry a mutation of the SMARD gene, which only 1 in 50,000 people do. Charlie does not have the gene. The condition is progressive and life limiting and there is no cure. Louie needs round-the-clock care, and despite the demanding nature of his condition, he is happy and content.

 The condition does not affect Louie's brain, and as he grows older he is desperate to communicate with those around him, but he cannot talk. His family are currently trying to raise funds for him to have a piece of equipment called a Tobii Eyegaze . The Eyegaze is a special computer which will give Louie the ability to communicate using his eyes. If he has this computer, he can communicate with his parents and his nurses and carers, he can tell them if he is happy or sad, or uncomfortable, and he can have improved quality of life. It will also mean he can interact with Charlie as he grows up. He will also be able to tell his mum and dad what he wants to do, for example, go to the cinema, or just stay home and watch a film. Something that you wouldn't normally give a second thought to, is such a big deal for a toddler like Louie. Unfortunately there is not funding for this, so his family has to raise £6,600 in order to get the Eyegaze.

As you can imagine, this is very important to Louie and his parents. You can take a look at their fundraising page here and find out more about the campaign. You can also share this on social media and across Blogger. The more people find out about SMARD and Louie's campaign, the better.

For everyone with a rare disease or condition, Rare Disease Day is excellent and a chance to spread the word and raise awareness. The website can be found here and they are also on Twitter- @rarediseaseday

Rare Disease Day 2014

On the 28^th February it is Rare Disease Day. This is the seventh official RDD, which is co-ordinated by EURORDIS. In the past more than 70 countries worldwide have taken part in planning activities and raising awareness for chosen diseases. The day aims to grab the attention of the public and decision makers about rare diseases and the impact they have people. You don’t just have to have an illness to suffer, suffering spreads to family and friends too. A lot of people who write about having Hypermobility Syndrome and Ehlers-Danlos online often refer to feeling alone when it comes to their health problems. This isn’t the way it should be as these conditions are not rare, they are just rarely diagnosed.

http://www.rarediseaseday.org/article/about-rare-disease-day 

The Rare Disease Day website has ideas and information about getting involved. The theme of this year is care, better care and caring more! The RDD team have a Facebook page and Twitter feed with information updates. Worth a look if you are a rare disease sufferer. I’ve found a lot of people take comfort in knowing they can have a support system, and relief when they find one that suits them.

https://www.facebook.com/rarediseaseday

https://twitter.com/rarediseaseday

http://www.youtube.com/rarediseaseday

Joint hypermobility in children- noticing hypermobile joints

The first time I ever drew attention to my joints was at a barbecue when I was nine. I was leaning on one arm laying on the grass, when a family friend who was medically trained asked if I had problems with the way that my arms bend. I had never noticed or been asked before, but from then on I began to realise that my joints did things other people couldn’t do. My hands can turn all the way around when on a flat surface, and my arms look almost backwards when I straighten them, as shown below. My right arm and shoulder was the first joint to become painful and remains the most problematic. It is very loose and causes aches and clicks and general pain most days. I struggle to carry things and have trouble sitting at my desk at work to type. When I went to physio they asked me to think back to being a child, to work out how long the pains had really been happening. I did recall having pains in my shoulders a lot when I first went to high school. These were dismissed as growing pains and I never made a connection to my joints, as I had no idea hypermobility was a thing. 

My hips are becoming more problematic lately. My legs are very flexible and I can place my feet on the back of my neck with ease. My thumbs are also hypermobile, bending right back around onto the back of my hand, as shown:

Despite these examples of bendy joints and being very obviously flexible, my hypermobility was never picked up on. I took part in PE lessons, went to school and played like normal, enjoyed being active and was never held back by joint pain. The only sign of what was to come was the way my joints could bend and move. Not all hypermobile children will go on to suffer with the symptoms of the syndrome. It is possible to live with no pain or problems when you are hypermobile, but keeping active and fit is still important. I think had I known when I was younger, I could have looked into physio and taken fitness more seriously, as it is so important to strengthen muscles around loose and hypermobile joints. Watching the way children sit and stand can indicate how flexible they are, particularly as they grow older. This link from the American college of rheumatology is another good source of help for paediatric hypermobility. The links for finding doctors are for the USA, but the other information applies to everyone.

http://www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_Conditions/Hypermobility_(Pediatric)/

Children who have hypermobile joints and are able to exercise and be active without issues should be encouraged to do so. I did a lot of physical activity as a child in way of swimming and ballet and didn't experience pains. However as I got older, I became less interested in exercise, especially at university, when exercise was replaced by pub crawls and lots of mid-week dancing! I am now very aware that my muscles need to strengthen to help support my joints and wish I had kept up swimming or tried harder to get fit when I was younger. My parents were as clueless about hypermobility as me, but if you have an inkling this applies to your child, get it checked. Keeping fit will help no end, as long as they are able and (sort of) willing.