Genetic counselling- What to expect at your appointment

So I sent out some feelers two weeks ago on Twitter, asking for people to share their experiences of genetic counselling. I got a lot of responses but only a few people had actually been for this kind of appointment, with a lot more people asking how to get one.

So to start off, I was referred through a dermatologist for this appointment. I am being monitored for a skin condition potentially related to Ehlers Danlos, and the dermatologist decided I would benefit from finally having an official diagnosis on paper. I was lucky, in that I found a doctor who knew about the condition. I had to be referred through my GP, which took some prompting, and they tested my bloods before sending the referral. The blood tests were to check my ESR levels, which measures inflammation, a test a lot of you might have had done. Despite it coming back with normal levels, I still pushed for the referral and my GP agreed to send it.

Three weeks later (I was referred to Northwick Park in London) I received a letter and an appointment. I was told waiting lists were long, which I expected, and my appointment was booked for May, a 9 week wait in total. I was then fortunate enough a week later to be offered a cancellation, which I took.

I did a lot of research online about genetic counselling appointments and what to expect. My top suggestions to prepare for a GC appointment are:

-Check the doctors background beforehand. make sure you are seeing a doctor who has knowledge of EDS, I asked to see someone specific by looking at the consultant list of the hospital and it was so refreshing to hear her level of expertise.

- Take as much family history as you can. The doctor drew out a sort of health family tree, which meant I had to provide a lot of information, mainly about my parents, their siblings, and my grandparents. Go as prepared as possible.

- Be ready to strip off and do some bending, stretching. I had to demonstrate my hypermobility, so I could be scored using the Beighton score. Dress appropriately!

- Write a list of EVERY symptom you have experienced in your memory, no matter how related it seems to be to EDS/HMS. Also try and remember all the scans and tests you have had in the past, and if you can go with results, take them. It's useful for the doctor, who will never have met you, to be able to get some good background.

-Prepare some questions. This is the kind of appointment you go into wanting to know so much, but it's easy to get carried away by how much the doctor will tell you, so make sure you remember everything that's been playing on your mind, and try and get an answer or suggestion.

-Ask about other clinics. If you need help with joints, ask about physio, if you need help with pain, ask about pain management. Your doctor will be able to refer you on to other clinics if necessary. It's definitely worth asking.

All in all, genetic counselling gave me an official diagnosis of EDS type 3, finally written and recorded and properly communicated to my GP. However I am not being followed up, so I did get a feeling of anti-climax out of the whole thing, as I was hoping for monitoring. However, as the word counselling suggests, these are excellent appointments for advice, so get as much out of your time as possible. Also remember to ask about family members- do they need an appointment too?

You can get more info and help with deciding what to ask and what relates directly to EDS from the Ehlers Danlos UK charity website.

This blog has a dedicated Twitter feed now: @ChronicHealth1 for lots of EDS and hypermobility related tweets. And tweets about food obviously.

Please do also follow @ehlersdanlosuk if you don't already, as it's a great online support system. You can find me @laurenrellis and I recommend anyone struggling with their conditions who isn't on Twitter to sign up, as there is a great online community.

Rare Disease Day- The continuing story of Annabelle and Vascular Ehlers Danlos syndrome

I wrote about little Annabelle for rare disease day last year, and as much as there are lots of things I could I have opted for this year, I wanted to do another post. I have followed her story online for a few years now after coming across a twitter account her parents run. There have been a few stories in the media similar to Annabelle's (known as AJ or Bella) but overall, as VEDS is a rare disease, coverage is rare too. 

Her wonderful family set up a registered charity in her name, and now raise awareness through social media, events, their website, fundraising and media coverage in their local area. On Rare disease day this year they are launching a new website. 

Stories like AJ's and the work that charities like AJ'S Challenge do are so important in the rare disease community. Having just turned 6, this little lady is juggling both her conditions and being a normal child, and this is the case for many children with rare but serious conditions world wide. 

Here's a little more info about AJ and the charity: 

Annabelle's Challenge is a UK registered charity raising awareness of Vascular Ehlers-Danlos Syndrome (vascular EDS) to both the general public and medical profession to help aid an early diagnosis and prevent misdiagnosis of vascular EDS and to support patients who are affected by the condition.

The aim of Annabelle's Challenge is to raise awareness, support patients and families affected by vascular EDS and to encourage the medical profession to progress further with research into finding a cure.

At just 3 years of age Annabelle was diagnosed in December 2012 with Vascular EDS, it is a life threatening and incurable genetic condition and is the most serious variation of EDS, weakening the collagen in her tissues of the body and making her prone to possible arterial or organ rupture.

A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Although serious problems are rare in childhood, more than 80% of vascular EDS sufferers experience severe complications by the age of 40.

Annabelle also suffers from rare blood disorder von Willebrands, with most children an accidental knock might only leave a slight mark but for Annabelle she comes off much worse with either excessive bleeding, deep bruising or even open trauma wounds requiring medical attention.

Her blood does not clot very easily and when factoring in the vascular EDS we have to watch her every move, not easy for anyone with a six year old that just wants to lead a normal life like any other child of her age.

So far this year Annabelle is doing great but we can’t ignore the fact she is a ticking time bomb, at any time day or night she could suffer from a spontaneous and ‘significant’ event which could end up in a visit to A&E or sadly worse case it could prove to be fatal without any warning.

To help raise awareness of the condition around Rare Disease Day, Annabelle has recently taken to the field with her local football club Bury FC as their mascot. During the match day visit Annabelle met with the manager and players and raised awareness of Vascular EDS before proudly walking onto the pitch with the players in front of the crowd.

Please do check out the new website http://www.annabelleschallenge.org/ and find out more about Ehlers Danlos and the challenges faced by parents of children with rare disease. Events like Rare Disease Day give patients, families, friends and doctors a chance to have a voice and make changes, so please share this in the hope it can help another parent, person, child, friend or doctor put together a puzzle. 

My hypermobility care mission: an update

This is a short post, but I think it goes quite well as a follow from my first of 2015. A big part of handling illness is education. Teaching yourself and taking advice from doctors helps you to control and look after yourself better. I constantly learn new things, and I did promise myself I would put my condition top of my priorities this year. This has made for a fairly busy January, but a very productive one. It's been busy in other ways too, I haven't just been hanging around hospitals and clinics thank goodness. I have had an anniversary, holiday planning, lots on at work and have tentatively gone back to running. I will write a post on this soon.

I went to see a dermatologist about some bleeding under my skin on my foot, and we came to conclusion it was done at a wedding by some very uncomfortable shoes about a year ago. Typical, the shoe saga strikes again! It's becoming a constant problem for me, but that's for another time. This is apparently now a stain rather than continuous bleeding and she wasn't too concerned by it.She wrote to my GP who then suggested I have some bloods done.

I had my full blood count and an ESR test done for the first time to my knowledge. The ESR test picks up on inflammation in the body and can therefore detect infection. It can also be used to test for autoimmune disorders and connective tissues diseases. My GP predicted this would be higher than average and flag up something, but it was totally normal. The mystery continues. All my bloods were normal actually, and my clinical colleagues assured me I am a very well person on paper. It's a shame this doesn't filter through to my general feelings!

One particularly exciting thing has happened. I did some research into clinics around London that see hypermobility and EDS patients. I emailed a doctor who sadly only specialises in children now, but she works at UCL and pointed me in the direction of a clinic I could potentially self refer to. She was extremely helpful and proved that initiative pays off. I also pushed for a medical genetics referral, which my dermatologist backed me up on and it actually got done. Success! So I was referred to Northwick Park Hospital in London to the genetics team and am now waiting an appointment.

I will report back on what this appointment is like, as a few people on Twitter have mentioned they are keen to be referred too.

That's it for now!
Happy weekend everyone.

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

6 changes to make 2015 healthier

Living with illness or not, everyone knows it's important to make some effort towards being healthy. Those who have experience of living with a condition  will also be aware that having good health and being in good shape can improve your outlook. Exercising much more in 2014 made a difference to my hypermobility, so in 2015 I want to continue with the positive changes. I spent ages on Sunday trawling through websites and blogs to look for some inspiration of things I can put into action, and these are my chosen 6:

1) Drinking a mug of warm water and lemon in the morning

For a long time my first drink every morning was coffee, which is not good and I have tried really hard to cut the habit out. I've heard a lot before about trying warm water first thing. It apparently helps with digestion, can be a natural way to help alleviate pain, can help with constipation and weight loss. The lemon is a good source of vitamin C, good in these winter months when there are germs a-plenty, and is also a natural anti-bacterial product. My hairdresser also swears it does wonders for your skin, which is always a big advantage.

2) Using a health app

I rarely put my iPhone down and I know I'm not alone in that. Health apps are being used more and more and I get lots of emails at work advertising new ones. They cover literally everything, but a good general one that monitors your intake of food and drink and exercise is a good place to start if you have nothing really specific to target. My Fitness Pal has long been a favourite of mine. I used it loads when I was a student and wanted to stop neglecting my diet. It basically tracks what you eat and drink against how active you are and tells you what you should be aiming for each day. It's great for weight loss if you want to slim down, but you can also use it to just make sure you aren't over or under-indulging and even to gain weight if you need to. It's free to download and really user-friendly.

3) Eating fruit before anything else

I've always been fairly good at fitting in fruit and veg in my adult life. What I do find though is that I cram it all in during the afternoon or evenings, meaning I am less likely to get the recommended 5 a day (or 7, depending on if you can handle that much!) which I would like achieve. Eating a piece of fruit first thing is actually pretty easy, especially something easy like a banana or apple. Including it in your breakfast helps too, but if you are busy and in a rush, grabbing something out of the fruit bowl is ideal.

4) Using fresh ingredients instead of jars/packets

This would depend a lot on how you feel about cooking and how much time you have. There are lots of great recipes out there for class dishes like spaghetti bolognaise, chilli con carne and curries that can be made fresh with spices and vegetables, rather than using shop-bought jars and packets. It's actually not that difficult either and you can alter things to be more to your taste. Once you have a good stock of spices in your kitchen, you don't even need to buy much each time you make a meal. Simply scratch is a really nice site that has a lot of recipes on, if you are looking for a place to start. I also want my weekly food shop to look like this more often:

5) Alcohol swapping

Okay, so if you love wine, this is a hard one. I LOVE wine, it's a complete guilty pleasure and I could could easily have a glass almost every day, which I don't, but still. It's also up there with the most fattening of all the beverages, which is sad. I'm going to attempt to switch from drinking wine to trying spirits with soda/tonic or low fat soft drinks. This may or may not go well. A couple of friends have mentioned in the past how much this has helped them lost them weight along the way, which isn't my goal, but it seems a bit healthier. Well, as healthy as it can be where alcohol is concerned. There is no way red wine can completely be banished though. No way,


6) Do more things I enjoy

Mental health is just as important as physical. Being happier overall is far more likely to make me succeed in the above, because when I am happier, I am more motivated in general. I ended last year stressed, tired, overworked and a bit fed up, which had a negative impact on my general well being. I'm going to attempt to do at least one really fun, enjoyable thing a week, even if it's something silly like watching Bridesmaids with my housemate for the 393485th time. Smiling is good for you, laughing is good for you, so it's time to do more.

I'm not looking at these as strict resolutions, because they won't all last or work out, but it's good to have things to aim for. Happy, healthy 2015!

5 things invisible illness sufferers do better than anyone

1) Be tired
When people get in from a long, hard day and kick their shoes off to a chorus of 'I AM SO TIRED', they really have no idea. Lots of invisible illnesses, like POTs, fibro, EDS and HMS, come with fatigue. It's not so much feeling tired, as feeling like you absolutely have to be laying down with your eyes shut immediately or you will just fall over. It just hits you like a train. There you are, going about your business, working, gardening, reading, whatever, and BAM. You are so absolutely exhausted it's as if you've not been to bed in a year. Your head feels like it's been pumped full of hot air and twice the weight it was a minute ago. Now that is tired. Really tired.

2) Poker face
There are times when you are doing something normal, say sitting at a desk at work, when suddenly a body part will explode with burning pain for no apparent reason. No one around would ever know, because you just smooth over it, try not to move, keep calm, and carry on. Dealing with chronic pain leaves you a good poker face. You can be feeling a lot of 'OUCH OH MY GOD' on the inside, but on the outside you look cool, calm and collected. Of course sometimes you can't contain it, and the bad days are bad, but you can regularly look utterly normal, perhaps even really well, when in reality everything hurts and you can't get out of your chair or even lift a cup. You'll have to be forgiven for the slight twinge of crazy when you flash someone a smile.

3) Appreciate
The good days are there to be used and used bloody well. Being cornered by illness and feeling like it dictates life awakens you to a sense of gratitude and appreciation most people don't know exist. Feeling almost brought to tears when a hot water bottle starts to ease your back ache or barely believing your luck when you can have a day out with family makes you thankful. SO thankful. You appreciate everything a million times more than is logical and really routine, average things can make your day.

4) Sleep badly
Sleeping badly is not taking an hour to drift off and waking up a few times. Sleeping badly is taking time to find a position you can lay in, waiting to see if you can stay in that position, hoping you can fall asleep, not falling asleep because you have to continually move, waking up in need of painkillers or to take medication, dislocating a joint from rolling over.....The list goes on. Chronic illness and sleep is a battle and no one fights quite like sufferers of these conditions. Painsomnia. Not fun.

5) Play it down
I used to wonder sometimes how people would feel if I could transfer all my symptoms to them for just ten minutes. Dealing with invisible illness, such as Ehlers-Danlos hypermobility, can test the patience of you and everyone around you. More often than not you probably play it down. Tell people you're okay and carry on with day-to-day life when really it's not okay at all. You're in pain, you're distressed, anxious, stressed, forgetful, brain-fogged and so tired. It's tougher than anyone can imagine, but playing it down to seem not so bad at all becomes quite the talent.

What does your condition mean to you?

Suffering from an invisible illness can be extremely isolating. Knowing there are others out there the same who are fighting similar battles can be a great deal of comfort. This is something that people mention again and again on forums, Facebook groups, through charities, Twitter and on other blogs that I read. It is a recurring theme. It's almost like a daisy chain, precariously joined together, people support one another and the chain keeps getting bigger. It needs to continue getting bigger for things to improve on other levels, like medicine, doctors and professional support.

Everyone handles their illness differently. While symptoms may be the same, no two people are completely identical in the way they live with chronic illness. The words below are from three different people, from three different parts of the world. They have given three key words and a short summary of how they feel about their condition. They speak different languages and live different lives, but they are united in one thing- fighting their condition. 

Lacey:

 Progressive, unknown, annoying

My hypermobility pain has increased significantly over the last two years and I was misdiagnosed and therefore mistreated for eight years before getting the correct diagnosis. I am still being bounced around different hospital departments trying to get to a specialist in order to manage the condition. I try to manage it as best I can and my current top tip is sleeping with a pillow in front of my stomach like a pregnant woman to prevent a recurring trapped nerve in my spine!

Mendy:

party tricks, pain, planning

I’m always in pain, always tired and although the doctors told me it would get better with age, I find that my joints keep popping out of my sockets more. With every activity I want to do I need to plan, either take more painkillers or have more sleep, have more recovery and say no to things more often. This is my life. I’m not sad about it. I was born with hypermobility. It’s only a shame that this is something not visible from the outside. I've lost friends over the years who haven't understood why I wasn’t able to go to birthdays or social gatherings. In my book, those aren’t friends. I live my life to the fullest, do whatever I can. I work, have my own house, lovely friends, nice hobbies and I’m happy. I’m not my hypermobility, I am Mendy with the funny joints.

Jay:

Falling apart inside

EDS has single-handedly taken away so much from my life, but at the same time gifted me an abundance of maturity and understanding at a very young age. Having such a dramatic, hidden change to your life can obviously be dizzying and the lack of research and understanding for such a difficult condition to live with is extremely frustrating; but what this means is the people I've met and spoken to with EDS are some of the most courageous and resilient people you could imagine. They have for the most part become their own doctors and created a community of people who know how hard it is to live with EDS who support each other tremendously. And for that I am grateful.

I would really like to receive more of these short pieces from people who suffer invisible illnesses and live with chronic pain. If you want to contribute to a future post please email laurenrellis010@gmail.com  

6 ways you know you have an invisible illness

1)      You wake up in the morning looking and feeling fine. All is going well and you think this might be a good day for you. A day where you can get things done and feel like a normal, functioning member of society. Half hour later you are falling apart, things hurt for no logical reason, you can’t quite make it into the shower and you consider putting painkillers in your tea. You still look fine though, and you can't decide if this is good or bad.

2)      You approach inanimate objects with an air of extreme caution. You can’t just throw yourself onto a sofa or jump into bed because who knows what the consequences will be. Waking up in the mornings on a beautiful day and throwing open the curtains is far too dangerous. Your shoulder could come out of its socket and ruin the whole day. Sometimes you also need to mentally prepare to shower. It’s not a decision to be taken lightly.

3)      You experience deep and confusing emotions If you feel well enough to let your hair down and have a few (or a lot) of drinks at the weekend. While most hung-over revelers wake up on Sunday worrying they have drunk-texted someone they shouldn’t or accidentally phoned their boss, you wake up too scared to move. Who knows what damage you might have done while having fun? You have to slowly and carefully make your way to the kitchen to re-hydrate and eat all manner of carbs. If you have got away with it you then begin to feel invincible and consider doing other activities that you normally avoid before realise your head hurts too much and you go back to bed.

4)      Explanation exhaustion. Telling people who aren’t aware invisible illness exists or can’t quite comprehend them becomes tiring very quickly. You may even have devised a short, concise script of what to say when someone asks why you were off sick or why you can’t get out of your chair.

5)      Planning is something you have to do with great care. You never know when symptoms will flare up and mean you can’t go on your day out or go visit your friend or even go for dinner. Plans are for days when you feel good and you know your body will last the duration. You also have to ensure your friends and family understand your condition so they can’t hit you with ‘but you LOOK fine, maybe you can come for a while?’ 

6) You often have to face the injustice of feeling hungover when not so much as a drop of wine has passed your lips. Waking up with a raging headache, joint pain, shaking, needing painkillers just to face the shower. All of these are followed by the overwhelming urge to shout 'WHY ME? WHY? WHY?' but instead you just get on with it and start your day the best you can because you are a God damn warrior.