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Awareness, chronic illness, chronic pain, dysautonomia, health, Rare Diseases, spoonies

Autonomic Testing: What you need to know

June 19, 2017 thezebramom 3 Comments

Hey there, hi there, ho there!

So a few weeks back I returned to London for some autonomic tests. While I was fairly prepared, there are a few things I would do differently. Even though I had been briefed by the investigations unit, I feel that some people who are due to have these tests would benefit from a few extra tips.

These are the tests that I had:

Autonomic Function Screening tests, plasma Catecholamine blood samples, head up tilt test (Autonomic Protocol), liquid meal test with autonomic responses, modified exercise test with autonomic responses to gravitational changes, cardiovascular autonomic responses to arm movements and a 24hr blood pressure monitoring using the autonomic protocol & analysis.

How do you prep for these tests?

Food and water

You have to refrain from any food four hours prior to testing and you can not drink anything until the lead up to the tests. So, I would recommend buying a breathe freshener spray as my mouth gets really stinky when I don’t drink water for awhile. So if that happens to you, you might want to bring some with you.

Luckily, my appointment was at 11am so I did have time to get up and eat something before we left. For 48 hours prior to testing you must refrain from eating anything with caffeine (coffee, tea, coca cola etc) bananas, chocolate, cocoa, citrus fruits & vanilla.

Clothing

You should wear loose fitting clothes for testing as the hospital informs, they suggested shorts in the documentation but London in spring is cold! I brought a few different things to wear and knew what would work for the second day of tests. What worked best was a loose t shirt (make sure the arms are loose or short too) and leggings. They only attach the vast array of wires and monitors on your upper body. The lowest they go is your hip area.

Medications

I wasn’t sure whether I should take my meds or not and it didn’t say what to do on the documentation so I refrained from taking my Midon but took my pain killers as the mornings are the worst time for me, pain wise. Luckily, I had booked a wheelchair to travel around London in so there was no chance that if I did faint, that I’d crack my head on the pavement. If you’re unsure yourself, give your investigation team a call or send an email to ask what to do in regards to your medications. It didn’t dawn on me until that morning on whether I should’ve taken my meds or not.

Punctuality

If you’re travelling abroad or far from where you live, make sure that you know which train/bus etc you need to get or what route you need to take if driving. I would advise for anyone having these tests in London, to check online whether there are any delays on the tube line you’re taking. I have a tube map app that was very useful for our trips around London. Give yourself plenty of time to travel. Be sure to get to the hospital in plenty of time so you can fill out any paperwork. Because we had the two kids with us, we did get delayed a bit so I was late for my tests but what we didn’t have time to do on the first day we did on the second.

How do these tests work?

Autonomic Function screening tests

This comprises of six tests. They are performed whilst you are lying flat, which will assess cardiovascular autonomic function.

The exercises vary in length, ranging from 15 seconds for the shortest and 3 minutes for the longest. The exercises examine blood pressure and heart changes in response to various stimuli: breathing exercises, cold, problem solving and isometric exercise. There

is a rest period between each test to ensure that your blood pressure and heart rate returns to baseline before commencing the next test. The autonomic function screening test also contains an active stand test. You will be asked to stand for a maximum of 5 minutes, whilst measuring your blood pressure and heart rate.

So, the breathing exercises were very straight forward. You are asked to breathe in deeply and then breathe out slowly for 15 seconds into a small tube. Then you’re asked to breathe quickly like you are hyperventilating.

The cold test was not pleasant at all. You’re asked to place your hand on an ice pack for 1.5 minutes. It doesn’t sound very long but trust me, it feels like forever. I won’t lie, it does hurt but as soon as that 1.5 minutes is up, you take your hand off and feel instant relief.

The problem solving test was tricky for me as I have a Dyspraxia diagnosis and people with this condition tend to perform very poorly when it comes to mathematics.

You’re asked to do fairly basic maths of adding and subtracting but when we got to the big numbers, I ran into trouble. Plus the pressure of having to perform and brain fog thrown in, the odds were stacked against me but, they’re not measuring your math skills or intelligence, they want to see how your autonomic system reacts to these particular exercises.

Finally we did the isometric exercise test and this was simply having to squeeze a ball. With my weak hands and the wrists that are susceptible to dislocation, it was difficult for me but I was assured I did just fine by the lovely woman, Kiran who looked after me so well.

Plasma Catecholamine blood samples

Blood samples were taken from my arm using a small butterfly needle. Catecholamines / Metanephrines are a group of hormones (adrenaline, noradrenaline and dopamine) which circulate in the blood and help regulate blood pressure and heart rate. The levels of catecholamines/ Metanephrines in the blood changes with posture (the levels increase from lying to standing). Blood samples were taken while I was lying, following the 10 minute rest period, and while I was on the tilt table in the standing position.

On some occasions, a spot catecholamine/ Metanephrines blood sample is taken during testing. This usually occurs if the clinical autonomic scientist observes a sudden marked increase in blood pressure and / or heart rate which correlates to certain symptoms. This test is performed to determine whether there are any sudden increases in the catecholamine levels, which could explain the symptoms.

Tilt table test

A tilt table test is a non-invasive diagnostic test to determine whether your symptoms: dizziness, light headedness or loss of consciousness; are due to changes in the blood pressure and / or heart rate. At the beginning of the test, you will be asked to lie flat on a table. Two straps are put around your body to hold you in

place. After about 10 – 15 minutes of lying flat, the table is then slowly tilted to raise your body to a head-up position – simulating a change in position from lying down to standing up. The table will then remain upright for

either a maximum of 9 or 45 minutes (maximum time depends on the test requested by the doctor), while your heart rate and blood pressure are monitored continuously. This allows doctors to evaluate your body’s cardiovascular response to the change in position.

Liquid meal test

This is a procedure that’s used to examine the effects of food on blood pressure (BP), heart rate (HR) and / or symptoms.

A liquid meal is used as the effects on BP and HR can be observed after a 45 minute period. Solid foods can take a lot longer to digest (up to 7 hours). There are two options for the liquid meal:

1) complan (original flavour) + glucose + milk

2) glucose + water

Most patients will have option 1 during the test. However, I had the glucose solution as I am lactose intolerant. It is so sweet, like sickly sweet. I would love my sweet treats but this was just gross. Both meal options are suitable for vegetarians and are gluten free.

So at during this test I was asked to lie flat on the examination couch for 10 minutes to get a baseline of my BP and HR. Then I had a tilt table test. Then I had to rest again until I was asked to drink the liquid meal. Then came by favourite bit, resting for 45 minutes. It was pure bliss, no noise, no lights, nobody crawling on me or calling for me every two minutes. It was every mother’s dream. I’m pretty sure I dosed off for awhile too.

During the 45 minute rest period, my BP and HR will be monitored continuously. During the 45 minutes however, my heart rate (HR) dropped very low. My usual HR is 80-90 BPM but mine dropped to 50 for awhile. The on call doctor was called to check my stats but no intervention was needed as my HR came up by itself. After 45 minutes, I had another tilt test to see if there have been any changes to BP and / or HR following the meal.

Modified exercise test

I was asked to lie flat on an examination couch for 10 minutes or until a baseline of

my BP and HR was established. I then stood for a about 2-3 minutes. I was then again asked to rest prior to performing the exercise. For the exercise, I cycled on a bike whilst lying flat. It was tough but I needed to cycle at a continuous set speed, with the

resistance of the bike gradually increased over a set period of time. I performed the exercise as long as I could which was just 3 minutes. My knee and hips were giving out.

Following the exercise, I had yet another period of rest before standing again for 5

minutes. I couldn’t last that long either. My BP plummeted making me feel dizzy.

Cardiovascular autonomic responses to arm movements

So I basically had to hold my arms out in front of me and then above my head for a few minutes. I think I only lasted a minute. My body has become so deconditioned that it physically hurt to hold my arms out in front of me. I could feel myself getting tachycardic during the tests.

24hr blood pressure monitoring using the autonomic protocol & analysis.

I had to wear a small portable blood pressure monitor, which is on a belt and a blood pressure cuff, which was fitted to my upper left arm. The monitor will takes your blood pressure and heart rate every 20 minutes during the day and every hour during the night.

You are advised to continue with your normal activities, which will help to show your investigations team a typical profile of your blood pressure and heart rate during a 24 hour period. The monitor can be removed for a bath or shower during this period. I was also given a diary. The diary contains a list of extra activities that my team wanted me

to perform whilst wearing the monitor (these activities including measuring your blood pressure & heart rate responses to mild exercise, food and postural changes). I couldn’t do all of these activities as we were either out of the hotel, I was tending to the children or having a bath.

During the monitoring, you can eat and drink as normal prior to your appointment. Your doctor will advise you whether you need to stop any medication prior to and during testing.

After the testing, I did feel exhausted and a bit sick. Booking my wheelchair was the smartest thing I did in preparation for my trip.

A couple of weeks later Prof Mathias spoke with me on the phone (this consult does cost extra on top of the couple of thousand pounds I paid for the tests) and I received a diagnosis of Postural Orthostatic Tachycardia Syndrome, Autonomic Mediated Syncope and my Orthostatic Intolerance/Hypotension was confirmed.

If you have any questions, you can comment below or message me on my Facebook page: The Zebra Mom

So until next week,

Z.M

Awareness, chronic illness, chronic pain, disabiliy, dysautonomia, Ehlers Danlos Syndrome, family, health, Rare Diseases

The Zebra Mom in the News

April 8, 2017 thezebramom 4 Comments

Hey there, hi there, ho there!

So this week’s blog is coming a little early because we are flying off to London tomorrow. This week has been very tough on me because my legs have become so weak that I can not stand up without help. I am on day two of a migraine and nausea too. So driving 3 hours up to Dublin and flying to the UK is going to be very hard on me. This will my third trip in a year going over to London for treatment and testing.

This trip I am having autonomic testing and physiotherapy. The children are also going to see their physio on this trip.

The last couple of weeks have been mental though. We have been on three newspapers, another on the way and I have been on the radio too talking about the lack of care in Ireland for patients with EDS. I am also lobbying for medical cannabis to be granted for those with chronic pain. I found out just yesterday that one of the newspaper articles below was read out in the Dail (Irish Government building) during a presentation about medical cannabis. Apparently my story of just wanting to be better for my children moved a lot of people. Medical cannabis could make that a reality.

Article from The Southern Star by Kieran O’Mahony

‘I’m left helpless to ease their pain’ says Clon dad in bid to get UK treatment

A CLONAKILTY man who says it pains him to see his wife and two young children suffer from a cureless condition, has set up a funding page to help them access treatment abroad.

Martin Nevin set up a GoFundMe page for his wife Evie (30) and their two children Alexander (7) and Olivia (2) who suffer from Hypermobile Ehlers Danloe Syndrome (EDS) and Dysautonomia.

The chronic, multi-systemic conditions have left his wife and children susceptible to joint dislocations and chronic pain and fatigue, as well as many other issues which can severely affect their standard of living.

In a poignant post on the page, Martin outlined why he set it up.

‘It pains me to see these three fantastic people suffer, to watch a woman with so much talent restricted from sharing it with the world, to see a boy with the will to climb a mountain withdraw from fatigue and to see the sweetest and the happiest little girl ever cry with agony due to dislocated joints.’

‘I can do nothing but watch their symptoms flare up. I’m left helpless to ease them and that is why I’ve set this page up so my family can get the treatment they need,’ said Martin.

Although the condition is slowly being recognised here, there are no specialists or facilities in the country to help sufferers, leaving the Nevins with no choice but to seek treatment abroad.

‘The Ehlers Danlos Syndromes are a group of connective tissue disorders which cause the body to produce faulty collagen and collagen is the glue that holds our bodies together. We are also affected by Dysautonomia, which means out autonomic systems don’t work properly. While Alexander and Olivia are not very affected by this condition, it does affect me and it can cause me to faint by simply cooking dinner,’ Evie told The Southern Star.

Evie and Martin have been told by the HSE that there are no plans to help patients with EDS in Ireland, so they are looking to London for treatment. ‘It’s a little too late for me now, as my body was neglected for almost 30 years, but the children are lucky to have been diagnosed so early,’ explained Evie. ‘So with help in the UK, we hope that they won’t become as affected as me.’

Evie said she is almost house-bound seven days a week, and she has been unable to work for several years due to her condition.

‘We want to give our children the best possible chance at a normal life and it’s really only now that I am getting tests and treatments for myself.

‘While we look to getting treatment abroad, we’ve been told that the Treatment Abroad Scheme won’t cover the costs to the UK, because our doctors are private consultants and the Cross Border Directive won’t cover our tests because they need to also be available in Ireland, which they are not.’

Evie and Martin also received another big blow with the recent announcement that chronic pain won’t fall under the Medicinal Cannabis Bill.

‘Medicinal Cannabis is often recommended for EDS patients in the US because patients are often resistant to pain medications, particularly opiate-based pain killers,’ added Evie.

Evie herself has been working tirelessly to get this condition recognised in Ireland and has written extensively on this for many newspapers and journals, as well as spearheading a campaign for all EDS sufferers.

The family recently attended the Hospital of St John and St Elizabeth in London where they met with professors who specialise in EDS and Autonomic Dysfunctions.

‘We have had to break up the trips over to London which is more expensive, so every time we go back they add on other tests and consultancies, so we are going to be fundraising for the foreseeable future.’

The family have set up a Go Fund Me page to raise the vital funds to avail of the treatment in London and they and their friends have already been fundraising by holding events in Clonakilty.

See www.gofundme.com/2befu24c or see ‘The Nevin Family Treatment Fund’ on Facebook.

Interview on C103’s Today show

Play from 56:20 to hear my interview below

https://soundcloud.com/cork103/corktoday-4th-april-2017

Article on The Irish Examiner by Sarah Slater

Cork family pleads for help to battle rare illness

A young mother and her two children are battling an illness that is consuming all of their short lives.

Evie Nevin, aged 30, her son Alexander, 7, and daughter Olivia, 2, have the rare and debilitating condition, hypermobile Ehlers-Danlos syndrome (EDS).

Although EDS is slowly becoming more widely known in Ireland, there are no specialists or facilities in the country to help people with this condition.

There is no cure for EDS, but with careful management and specialised physiotherapy the quality of living for someone with EDS can be improved.

Most Irish EDS sufferers are referred to Rodney Grahame, consultant rheumatologist at the Hospital of St John and St Elizabeth, London, who has said: “No other disease in the history of modern medicine has been neglected in such a way as EDS.”

Members of the EDS community have campaigned for specialist treatment here, to no avail. They recently learned that there are no plans by the Government or health services to implement any.

Evie, from Clonakilty, Co Cork, is prone to hip and wrist dislocations on almost a weekly basis. She is extremely effected by changes to pressure and can be left bed-ridden with pain from something as small as a rain shower.

I went from getting up at 6.30am and getting home at 9pm working as a journalist in 2012 to being someone just existing in 2013,” she explains.

“I remember being very self-conscious all the time because I rarely had the energy to get dressed and people only really saw me in my pyjamas. I got called lazy a lot. That hurt. I didn’t know what was wrong with me, but I knew it wasn’t laziness.

“When Alex was diagnosed my heart broke. I felt so guilty. My genes did this to him but, thankfully, I’ve moved past that now because what’s the point in feeling guilty? He’s lucky that he has been diagnosed so young and that he has an excellent school who support him by providing resource hours, an SNA and movement breaks.

“It was confirmed for me before Olivia was born. I felt her skin and saw the hint of blue in the whites of her eyes when she was born.

“My heart goes out to Martin. He didn’t ask for this at all. When we first met I was still relatively ‘normal’.”

Evie’s husband Martin, 29, has thrown himself into fundraising to get his family the specialist treatment they need, as well as being a videographer. He’s also determined to keep their spirits up.

“I feel like such a burden to him, but he never makes me feel like that,” says Evie. “Even on days when I’m in agony and not so pleasant in my manner, he doesn’t complain. He has never once made me feel bad for being sick or for the kids inheriting my genes. It’s all down to me and my issues.

“He took his ‘in sickness and in health’ vow very seriously! He’s a brilliant dad and husband and treats us when he can so we have things to look forward to. When you’re stuck at home six days out of the week, most weeks, looking at the same four walls, you need something to keep you looking forward.”

For now, the focus is on fundraising, but the Nevins are facing the fact that they may have to emigrate to properly deal with the condition. They have been told they cannot access either the Treatment Abroad Scheme (TAS) or the Cross-Border Directive (CBD).

“The TAS only covers treatments available on the NHS,” says Evie.

“The Hypermobility Unit in St John’s and St Elizabeth’s in London is a private hospital so our consultancies and treatments won’t be covered.

“The CBD will only cover medical issues that are also available here in Ireland and the tests and scans I must have in London are not available in Ireland.”

In a statement, the HSE said: “EDS is treated across Europe by multidisciplinary teams, often led by physiotherapists, with extreme cases being sent to orthopaedic for corrective surgery. EDS is readily treated in Ireland by physiotherapists. There is no specialist centre in Europe or the UK.”

Evie refutes this: “There is no treatment available here, no matter what they say. The people in charge will say rehab in Harold’s Cross is an option, but they are in no way experts and the reviews from my community haven’t filled me with any confidence that they could take care of me and my complex conditions.

“Right now, we are aiming to move abroad somewhere where there is better care and where the air pressures are more stable than Ireland. The kids are becoming affected by the pressure changes too. Both of them wake in pain when we have particularly nasty weather.

“Obviously I can’t blame the Government for the weather, but I do blame them for not setting up a clinic for people with connective tissue disorders.

“We need somewhere with a multi-disciplinary team like in London. We need consultants that communicate with each other. Things slip through the cracks because of the lack of communication and a holistic approach.”

One development that could make a huge difference to the family’s lives is medicinal cannabis. Those with EDS are often resistant to pain medications and they find it difficult to manage their pain. Medical cannabis is recommended for EDS patients in the US.

There is an increasing call by medical support organisations for greater access to medicinal cannabis for patients with debilitating conditions.

A Health Products Regulatory Authority report published last month advised that, if a policy decision is taken to permit cannabis under an access programme, it should be for the treatment of patients with three conditions — spasticity associated with multiple sclerosis; intractable nausea and vomiting associated with chemotherapy; and severe, treatment-resistant epilepsy that has failed to respond to standard anticonvulsant medications.

“When health minister Simon Harris announced that only three conditions would be approved, none of which are related to chronic pain, I was devastated,” says Evie. “I had been hopeful and excited at the idea of having some normality back in my life.

“Medical cannabis could be seriously life-changing for my family and me. In the US, EDS experts highly recommend cannabis as a form of pain relief as many patients are resistant to painkillers, specifically opiate-based pain medications.

“I have changed pain medications so many times because I’ve become resistant pretty quickly to them. This is now starting to happen with my current medication, Tramadol.

“I’d rather have medical cannabis over my Tramadol because taking 5,000 painkillers a year can have serious repercussions on my body. If I can access cannabis safely and with help from the HSE, I may not develop symptoms of long-term opiate use such as depression, hormonal dysfunction, and respiratory depression, to name just a few.

“I have used cannabis-based products to manage my symptoms. I use a MediPen, which has been helpful for my chronic fatigue, but not for my pain. I have smoked cannabis and I find that, on days when my Tramadol isn’t working, it’s the only thing that helps manage the pain.

“I also find it good for my appetite because I don’t eat a lot when I’m in a lot of pain. I’m so nauseas and I find Tramadol suppresses my appetite sometimes. There are days I’d be lucky to get 800 calories into me. I would like to be able to access cannabis legally so that I can function a bit better in my day-to-day life and be a better mother and wife to my family.”

For now, another round of tests and physiotherapy for Evie, Alexander, and Olivia at St John’s and St Elizabeth hospital in London, as well as flights, accommodation, and private medical consultations in Ireland, mean the young family need to raise in the region of €10,000 for the first trip.

Martin says: “It pains me to see my family suffer. I can do nothing but watch when their symptoms flare up. I’m left helpless.

“So I’m asking the public for their help, as a father and as a husband, to send my family to get the treatment they need. Anything you can spare, even a few euro, will make a massive difference.”

You can find out more on their GoFundMe page, or on Facebook.

The symptoms

Ehlers-Danlos syndrome is a genetic connective tissue disorder that affects the joints, skin, and blood vessel walls.

Sufferers usually have overly flexible joints and stretchy, fragile skin. This can become a problem if a wound requires stitches.

There are 13 types of The Ehlers Danlos Syndromes and symptoms vary.

Overly flexible joints can result in dislocations and early-onset arthritis. Fragile skin may develop prominent scarring. Those with the vascular disorder are at risk of often-fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, may also rupture. Pregnancy can increase these risks.

In other forms of the disorder, fainting and low blood pressure occurs because blood vessels stretch. Stomach wall lining is fragile and bowel ruptures can occur. Constipation and other motility (movement) disorders feature, as does gastroparesis (paralysis of stomach; inability to process food).

Excessively loose joints are the hallmark of hypermobility disorder as suffered by Evie, Alexander, and Olivia. Large joints and small joints are affected. Partial and total joint dislocations are common. Many experience chronic limb and joint pain.

ENDS

It has been a crazy couple of weeks and thanks to these journalists, we have reached our first goal of 10,000 Euro! When the Irish Examiner piece came out over 2,000 was raised in that day alone. I am truly blown away by stranger’s generosity and kindness.

Another good thing that came out of all of this is that I have had parents from all over the country ring me to ask for advice regarding their children. Sadly, and also not surprisingly, many families are given diagnosis but then offered no support or solutions. In Ireland we have to fight for every support we get. This is no country for disabled people. The entire health system is lacking in every sector.

Standing up and speaking out does work. You just got to keep chipping away at the block. I truly believe my story has made a difference in regards to awareness and lobbying for medicinal cannabis.

Next on our press list is an article with the Evening Echo. We hope that some more newspapers, radio stations and TV stations get in touch. Not so that we can fundraise, but to raise awareness and give chronic pain patients a voice.

Until next week,

Z.M

Awareness, chronic illness, chronic pain, dysautonomia, Ehlers Danlos Syndrome, family, Friday Feelings, health, spoonies

Friday Feelings with The Zebra Mom

March 24, 2017 thezebramom 1 Comment

Hey there, hi there, ho there,

This week I didn’t have any guest post submitted so, I decided to do a Friday Feelings post myself.

Usually I explain what my guests suffer from and a they tell us a little about themselves but I’m sure anyone who follows my blog is well aware of my conditions and the things I am passionate about. I will take the oppurtunity to plug my social medias though :p You can find me on Facebook, Twitter, Pinterest, Instagram and Snapchat (see the snap code in the header)

So we will just dive straight into this week’s Friday Feelings post

“Dear Diary,

It’s Friday and for once, I’ve had an excellent night’s sleep and I’m feeling relatively OK. Usually I wake with something wrong but luckily, I have no more pain that the usual aches. I am so happy that I’m feeling well as can be since I am celebrating my 30^th birthday tonight with family and friends. It is not often I get to socialise and get dressed up so when it does happen I appreciate it so much. I’ll probably run low on spoons after I finish getting myself ready but I am hoping the adrenaline will kick in and help me enjoy my night. I also have to be weary of certain lighting in pubs as my sensory issues can cause havoc when I do get the chance to go out. My typical Friday nights are usually much more boring. I sit at home and spend my time watching the Gilmore Girls or socialise on Facebook.

Even though I feel OK right now the last few weeks my EDS and Dysautonomia has been acting up a good bit forcing me to use my wheelchair. I hate using it, it makes me feel very self-conscious but I know I would be much worse off if I didn’t use it. Yesterday we went into the city to take our little boy shopping for new party clothes and if I didn’t have my chair, I wouldn’t have been able to enjoy our time. It’s a frustrating time for us at the moment as we are currently fundraising to get back to London for treatment. This 5-night trip is costing us 5,000 Euro. Luckily I have some really good friends and family who helped us raise 765 Euro a couple of days ago at our coffee morning. We couldn’t believe that that amount was raised in just a couple of hours! The community really came together to support us. I was truly blown away.

The future is uncertain but I am hopeful that getting treatment in London will give the children and me a fighting chance at some normality. I am having Autonomic tests in London to find out exactly which type of Dysautonomia I have. Here in Ireland I have been diagnosed with Orthostatic Intolerance and Vasovagal Syncope but the experts in London believe I have Postural Orthostatic Tachycardia Syndrome (PoTS). They believe Alexander also has PoTS but luckily he isn’t greatly affected. I also see symptoms in Olivia too.

I think as time goes on, people are understanding our conditions better and know that they are invisible illnesses and that some days I need my wheelchair and some days I don’t. I think the fact that we have had to go to the UK and fundraise thousands made people realise the severity of our conditions. It’s a shame that it has had to come down to this but I am content that those nearest and dearest to us take things seriously. I have had negative experiences with the way people has viewed EDS before. One doctor said that people with EDS didn’t suffer from chronic pain (I know, I know) and that I more likely had Fibromyalgia. Now, many experts do believe that most people diagnosed with Fibro have actually been misdiagnosed and that they actually have some form of Connective Tissue Disorder. I told her this and she was most unimpressed to be challenged. Pregnant and wheelchair bound, I left that appointment in tears in pure anger and frustration. A Rheumatologist diagnosed me with hEDS at that point but I saw another one to confirm the diagnosis because I felt the private consultant’s diagnosis wasn’t being taken seriously. I had the diagnosis confirmed by two experts in London so I am pretty confident hEDS is the right fit but I am going to have genetic testing just to be sure as I do fit a couple of the types of EDS too. I think anyone diagnosed with hEDS should have genetic testing to rule out other types and other Connective Tissue Disorders. If the tests come back clear, I’ll be happy sticking with the hEDS diagnosis.

Anyway, better start getting ready for my hair appointment and party. Wish me luck that my EDS or Dysautonomia doesn’t kick off!”

Want to write your own Friday Feeling entry?

Send

A high res photo

A short paragraph about yourself

What illnesses you have

Your diary entry with the following topics in it:

It’s Friday, many people will go out tonight for a few sociable drinks with their friends. What do you do on a typical Friday night?
How are you feeling at this moment about your chronic illness?
How do you feel about the future in regards to your illness?
How do you feel about the way people view your illness?

and links to your blog and social media to evienevin87@yahoo.ie

Be sure to put “Friday Feelings” in the subject bar.

Till Sunday,

Z.M

Awareness, chronic illness, chronic pain, Ehlers Danlos Syndrome, health, Rare Diseases

The Zebra Mom’s journey to London.

March 6, 2017 thezebramom 4 Comments

Hey there, hi there, ho there!

As I’m writing this it’s Rare Disease Day. I have a rare disease called Hypermobile Ehlers Danlos Syndrome. This condition is believed to affect 1-5,000/10,000 people. Although, many experts now believe it may not be rare at all, just rarely diagnosed. The new diagnostic criteria (released on March 15) may lead to a more concrete number.

Anyway, so I said earlier on in the week that I would explain my absence from social media and why my blog was late and it just so happens to fit in nicely with Rare Disease Day.

Taken from the Journal.ie:

The National Rare Disease Plan for Ireland up until 2018 was launched in 2014 by the former Health Minister, James Reilly.

The key recommendations include creating both a Clinical Care Programme and a National Office for Rare Diseases.

The Minister said, “This is a very important plan because we have 8,000 different rare diseases in a small island like ours. It’s very difficult for patients to get a diagnosis and then indeed treatment.

So we had a young man here earlier who had his picture taken who is having is treatment in the UK at the moment for his rare condition.

Reilly explained how this plan has looked at “how to shorten that journey and reduce the frustrations that people experience trying to get a diagnosis, and then indeed organising the treatments.”

The former Health Minister said a designated Clinical Care Programme for rare diseases will improve specialist services and allow for the development of a joined up model of care for patients. While the National Rare Diseases Office will identify Centres of Expertise for various rare diseases, provide a helpline function for patients and families and provide surveillance of national rare diseases.

James Reilly added:
The significance of this plan cannot be overstated because it provides us with a roadmap for the prevention, diagnosis and treatment of rare diseases.
“I fully endorse this plan as the means to positively shape how we look after people with rare diseases in Ireland”.

So at present, there are 8,000 diseases affecting millions of Irish citizens. Although we might be genetically rare, together we are actually very common. 1 in 10 people in the UK have a rare disease.

So three years later has anything changed for rare disease patients? From what I can tell? No. Well at least nothing for anyone with my condition. We still have no Clinical Lead Consultant, no schemes to help us get Treatment Abroad. The current Treatment Abroad scheme only covers referrals to public consultants. All the experts in the Hypermobility Unit I attend are private. There is still a huge lack of awareness amongst medical professionals. The length of time to get diagnosis is still too long or it never happens at all. Approximately 90% of patients I surveyed learned about Ehlers Danlos Syndrome before the diagnosis was confirmed. So it’s the patients that are essentially doing all the work. My own story to diagnosis reflects this.

As I’ve said my reason for being late with this blog fits in nicely with the reflection of how rare disease patients are treated across the world but particularly in Ireland.

I was called by the wonderful Professor Rodney Grahame Friday two weeks ago. He asked me to come to London the following Wednesday to be examined as I am having some rather bizzare symptoms. Just before I get a migraine/headache one of my eyes bulge, the headache starts shortly after and my nose begins to pour a water-like fluid.

bulging-eye — My eye at the beginning of an episode. Note my right eye (your left) is bigger than the other one. It will get slightly bigger as time goes on.

Professor Grahame had never come across these symptoms before which, for him would be rather rare in itself. He said I should go ahead and have my upright MRI and I only got my appointment times the following Monday. I had to fly to London the following day to be at Professor Grahame’s clinic on Wednesday morning.

The flights were phenomenally expensive and on top of all the stress of sorting out flights and accommodation, I had to leave my daughter for the very first time. She is almost 2 and we had never been apart longer than a few hours, let alone 3 nights and two days. We cosleep and breastfeed so we are very connected. I had to organise getting a breast pump so I wouldn’t get mastitis, plugged ducts or reduce my supply. Luckily, I am apart of a very close knit breastfeeding community so one lovely mummy donated a snazzy electric pump to hold on to as I’ll be over and back from London for the next year at least.

So on Tuesday my Dad and I flew to Heathrow via Cork airport. I brought my wheelchair with me as I was approaching that time of the month which makes me more prone to dislocation and soft tissue injuries. Plus going around London for 2 days was going to be tough on me anyway.

We stayed in Earl’s Court as per usual as it is a handy spot in the centre of everything. We were one tube stop away from the upright MRI clinic, Medserena on Cromwell Road and just 15 minutes from St John’s and St Elizabeth’s in St John’s Wood. Earl’s Court is also only one stop away from Kensington which is where all the big museums are such as the the Science Museum and the Natural History Museum.

On Wednesday I got to meet the wonderful Jared, Sarah and Annabelle Griffin of Annabelle’s Challenge before my appointment with Professor Grahame. I’m speaking at the Vascular EDS conference Jared is organising in May. We also combined forces and launched the REDS4VEDS campaign worldwide to raise awareness of Vascular EDS.

From left: Jared, Dad, Me, Annabelle and her friend at St John’s Hospital.

At noon I met with Professor Grahame. I am thrilled that he managed to squeeze me in during his last week of clinic as he is retiring from the Hypermobility Unit. He examined me and looked at the photos of my bulging eye.

He questioned whether I might have a problem with my Cerebral Spinal Fluid (CSF) and we also wondered whether I might have a Chairi Malformation as I have had weakness and other issues linked to Chiari for years.

Luckily Dad was on hand to show him a photo of my eye bulging and gave my medical history as a child specifically mentioning the weakness on my left side and my problem with going anywhere with artificial light and crowds as a child. I know now that it’s sensory processing disorder but nobody has put that down on paper as yet.

The next day we went to Medserena for my upright MRI. Two very dear Zebra friends of mine warned me that this wasn’t going to be as easy as a supine MRI and that both of them had never fully recovered from the scan. I really underestimated their warnings.

Professor Grahame had actually rang the clinic to make sure I was seen the day after my appointment with him. He ordered a scan of my cervical spine and craniocervical junction.

The staff at Medserena was very accommodating and polite, you didn’t feel like a client, you felt a visitor to someone’s home, not a cold and sterile clinic.

I went into the dressing room to put my valuables in the safe. Luckily, I had dressed in a loose top and a pair of leggings so I didn’t need to put on a gown. Just before I went in I took my Tramadol and Midon as suggested by the friends who had undergone this scan before.

Nervous, I found myself thinking about my children and husband. I pictured Olivia crying for mummy’s milk and Alex looking for cuddles in the middle of the night. I should be at home with them tonight, not hundreds of miles away across the ocean.

I sat down in the machine, luckily I got to sit as I was expecting to be standing. The scan wouldn’t have lasted that long if I was to stand because of my Orthostatic Intolerance.

The first position I had to look straight on. Because the scan takes 1.5 hours in total., the radiographer put a film on for me to watch. I had a choice between Skyfall or Tarzan. Didn’t matter to me either way as I didn’t have my glasses on, I could see diddysquat.

So, after the first position it was time to flex my neck downward, then upward and then right. There were a few occasions we needed to repeat scans as my images came out blurry. I had no idea why as I had stayed as still as I could. It’s ridiculous how still you have to be in an upright compared to a supine MRI. You can’t cough, you have to be breathe shallowly and you can not swallow. So you sit there five minutes at a time with saliva pooling in your mouth and your neck flexed in a position for five minutes.

When it came to my last position (neck turned left) I was in agony. After two attempts of this position, we had to give up. I was visibly in pain and it showed in the scans as they were very blurry.

Once I gathered my things in the dressing room, I went back into the reception and burst into tears. Not because of the pain-it’s not often that pain will make me cry now. No, it was my “fight or flight” mode gone into overdrive. I was so overwhelmed with the whole situation. Since the MRI finished at 5.45 (I went in at 3.45) my back, shoulder and neck had been giving me trouble. Two weeks later the problems persists with swallowing becoming uncomfortable and slightly painful.

The lovely receptionist brought me some juice and chocolate for my shock. I was a mixed bag of emotions. I felt like I had been something very traumatic had just happened to me. For those of you who’ve not gone through this, it might sound dramatic but those who’ve been through this know my feelings are perfectly valid. The radiographer gave me a CD of my scan images and we left.

I’m sure for people without my issues, the MRI isn’t as draining or painful. But with the problems I have with my neck, it was torture.

That night I took a sleeping pill and slept from 9.30 until we had to get up for our flight at 7am. I had a headache like I was hungover, my whole body ached more than usual. This scan really did a number on me. But, I was going home. I’d see my babies and my husband and sleep in my own bed tonight.

The Aer Lingus staff were amazing on the flight home, very pleasant and very accommodating. Even though we were 30 minutes late taking off, we arrived just shortly after our arrival time. I was brought to the front of the queue in my wheelchair for every point in Heathrow and again in Cork, much to Dad’s amusement and delight.

When we came through the arrival doors of the airport the children saw me. Alex came bounding over and it took Olivia a second or two to realise mommy was home. She then came running over. Of course, it didn’t take her long before she climbed on my lap and latched on. Hubby came over with a big bunch of flowers to welcome me home. I have been on many trips before but never had a welcome party like this. My heart swelled.

The journey home was tough as the roads in Cork are abysmal especially after Hurricane Doris had come sweeping through.

I landed myself into my usual spot when I got home, on the couch. I’ve been quite ill since and have only managed to leave the house a couple of times in two weeks.

I received my report from Professor Smith in Medserena last Wednesday. Thankfully no Chiari was noted.

The report was very detailed being four pages long. Here’s the Professor’s conclusion:

In the cervical spine there is reversal of the normal cervical lordosis in the neutral position with evidence of instability at the C4-5 and C5-6 levels.
There is no evidence of basilar invagination or of cerebellar tonsillar ectopia.
Whilst the atlas is normally aligned over the axis. There is deviation of the odontoid peg to the left in the presence of intact ligaments of the craniocervical junction ligamentous complex.
On looking to the right and to the left the odontoid peg moves to the contralateral side indicating an element of laxity of the ligaments.

I am awaiting a call from one of my consultants to discuss the results and a course of treatment for my issues.

I return to London on April 9th this time for Autonomic Tests and physiotherapy. The children will be coming with me this time to be assessed by their physio too.

It’s downright criminal that we need to disrupt our lives even more and travel abroad to access experts and have these tests. They are nothing overly complicated and could easily be done here in Ireland but nobody does them. There are physiotherapists in Dublin who could look after the children but it is actually more hassle travelling 3 hours to Dublin than it is flying 45 minutes to London. At least we know the children are in safe hands there.

I came across this image a few days ago while writing this blog and it really does ring true. This statement does not ring true to the doctors who look after us in the UK, of course but to the medical professionals who have no urge to learn or help those of us with Ehlers Danlos.

The theme of my talk at the Vascular EDS conference is about this very topic. Patients become the real experts when it comes to their condition. We know more about it than doctors who have trained for a decade or more.

I am the driving force behind my own medical care. For years I let doctors fob me off and dismiss my issues as nothing more than depression.

Luckily I have a great GP now who listens and does exactly what I ask her to do. I’m in charge of my own referrals, meds and treatments. She trusts my gut and knowledge. I am so grateful to have her, I know so many others who are not quite as lucky.

As I said, we are back in London in April and this visit is going to cost us 5,000 Euro.

I have friends helping to fundraise through coffee mornings and the likes.

My GoFundMe has been our main source of treatment money so far and I’ve been blown away by people’s genorosity.

Until Friday,

Z.M

Awareness, chronic illness, Ehlers Danlos Syndrome, family, health, Rare Diseases, spoonies

Our medical trip to London. Part 1

September 28, 2016 thezebramom 2 Comments

So, I’m sitting on a plane at Heathrow airport. As I stare out the window and listen to the rumblings of the engines preparing to take us back home, I reflect on the last few days.

I have been running on adrenaline, will power and strong cups of coffee to let my family enjoy the experience of everything London has to offer. I know they wouldn’t have gone sight seeing if they knew just how unwell I was. I can’t hide it now though. My pelvis has separated, which it does every few days or with exertion. My wrist popped out and is now painfully bruised. I am emotionally and physically drained.

We arrived in London on Tuesday evening. Weary after our drive from Cork to Dublin, I was looking forward to getting to our hotel in the Premier Inn Earl’s Court and hopping into the bath for a soak. Ollie Pops N’Clicks had other plans..

In addition to inheriting all my wonderful genetic gifts, she also inherited my inability to travel without some form of sickness cropping up. Yup. Right there on the packed tube, close to me in the sling she vomited. And I mean vomited. Like ‘Team America’ vomited. It just kept coming! How could someone so little bring up that much puke?

The smell. Christ. Just what I needed. I look over at my husband only to see him laughing. Then everybody else in the tube noticed what happened and began to laugh too. Frickin’ hilarious, lads.

We hopped off the tube so I could clean myself up as much as possible. We eventually made it to the hotel in one piece, just. Ravenous, we dropped off our bags, got washed up and went to the restaurant for a pleasant dinner.

I didn’t sleep so well that night. The next afternoon Bendy Boy and I would be meeting the Professor Grahame. I met him once at a conference in Cork. He was just as sweet and gentle as I had remembered. The Professor knows all too well the struggle Irish zebras face, almost total abandonment from our own Government and healthcare system. No specialists and the majority of tests needed are simply unavailable. We don’t even have an upright MRI machine.

After an examination and a very long chat, the Professor confirmed Bendy Boy’s diagnosis of EDS Hypermobility Type. It was also noted that the six year old shows signs of Postural Orthostatic Tachycardia Syndrome. When Bendy Boy stands up, his heart rate rises and his feet pool with blood. I was shocked to learn of the POTS signs as he has never complained of feeling dizzy except when he gets out of the bath. I was surprised I didn’t notice the pooling.

The Professor seemed impressed with my knowledge and understanding of medical terminology. When there are no experts available to you, you have to become your own expert.

Here is an excerpt from my own medical report:

“On examination there is evidence of widespread joint laxity with a hypermobility score of 8/9 on the hypermobility scale. Outside the scale her shoulders and hips (borderline) are also hypermobile, as are her feet which flatten and pronate on weight bearing. There is a non-significant 2° scoliosis on the Bunnell scoliometer, but no other features of a marfanoid habitus. Her skin is soft and silky and semitransparent, and shows increased stretchiness in the phase of taking up slack. There are numerous thin scars from knee scrapes acquired in childhood and similar over her elbows. Striae atrophicae were first noted by her at the age of 18, and she has minimal striae gravidarum despite having had two full-term pregnancies, a pointer to EDS. Gorlin sign, ability to touch the nose with the tip of the tongue is positive, and the lingual frenulum is rudimentary, both pointers to EDS. She scored very highly (25/30) on our checklist of symptoms compatible with autonomic dysfunction, known to be a common feature of EDS. Her blood pressure lying was 124/84, pulse rate 66; standing 124/84, pulse rate 80. This rise of 14bpm on change of posture is suggestive of postural tachycardia syndrome (PoTS), the most frequently encountered form of dysautonomia seen in patients with EDS. The evident pooling of blood in her toes on standing is further evidence in favour of PoTS.

On the basis of the clinical findings I have formed the conclusion that Yvonne is suffering from a heritable disorder of connective tissue, the Ehlers-Danlos syndrome hypermobility type, a diagnosis that was established by Dr Mulcahy in 2013. I explained the nature of the condition to her, in particular its genetic basis and the vulnerability it confers on soft tissues to the effects of injury and overuse. In her case it has resulted in longstanding widespread joint and spinal pain. Since the time of her first pregnancy she has suffered a secondary chronic pain syndrome, a frequent occurrence in this situation. It is likely that her bowel symptoms represent an EDS-related intestinal dysmotility, and almost certainly she has PoTS.

There is a concern about the possibility that she might have craniocervical instability on the basis of left-sided weakness, headaches, and paraesthesia in her arms and legs. In addition she feels that her head feels too heavy for her neck. With this array of suggestive symptoms I have agreed that we should proceed to an upright MRI examination, and I will be requesting this at the Medserena Upright MRI Unit for her to have one on a future visit.”

And Bendy Boy’s report:

On examination there is evidence of widespread joint laxity with a hypermobility score of 8/9 on the hypermobility scale. Outside the scale his shoulders, cervical spine, hips, fingers and big toes are all hypermobile, as are his feet which flatten and pronate on weight bearing. There is a non-significant 3° scoliosis on the Bunnell scoliometer. Other features of a marfanoid habitus include a pectus excavatum, and hand-height and foot-height ratios both elevated to within the marfanoid range. I interpret these findings as indicating an incomplete marfanoid habitus, which may become more obvious as he completes his adolescent growth spurt. This should not be taken to imply that I feel he has the Marfan syndrome as the habitus is widely distributed throughout the family of heritable disorders of connective tissue. His skin is characteristically soft, silky and semitransparent, and shows increased stretchiness in the phase of taking up slack. There are no paper-thin scars of note. Gorlin sign, ability to touch the nose with the tip of the tongue, is negative. The lingual frenulum is present (normal). He scored moderately highly (12/30) on our checklist of symptoms compatible with autonomic dysfunction, known to be a common feature of EDS. His blood pressure lying was 96/53, pulse rate 75; standing 102/62, pulse rate 85. This rise of 10bpm on change of posture is suggestive of postural tachycardia syndrome (PoTS), the most frequently encountered form of dysautonomia seen in patients with EDS.

On the basis of the clinical findings I confirm that Alexander shares his mother’s phenotype and diagnosis.”

While I was being examined, Ollie Pop (16 months) decided to stand up on her own for the first time! And I missed it. Thank You, EDS!

Receiving the confirmation of EDS HT and the noted symptoms of POTS given by Professor Grahame will hopefully bear weight in accessing services here in Ireland. Although, I won’t hold my breath. My GP was happy to hear that I took the plunge going to the UK and she’s very interested in my case. It took a long time to find a GP that genuinely cares. While a weight has been lifted knowing that I definitely have EDS and haven’t been misdiagnosed for the hundredth time, there is a fear. The idea of having cervical instability or Chiari freaks the sugar out of me. This last trip cost roughly 5,000 Euro. The next trip will be double that again. If Chiari is present and significant it may mean I will have to take a trip to the US to have surgery. We will just have to wait and see.

Coming home to Ireland, it is wet and windy. It’s miserable. The weather here reflects how I feel about Ireland and it’s healthcare system.

Now that I’m home I don’t have access to the fantastic services and more importantly the compassion I felt in London. I felt so at ease.

I am fundraising to get back to the UK in the new year for further testing. I will give details of these in Part 2 along with the rest of my tale. If you can donate anything at all, just click on the link below. Even sharing our story would be a massive help.

https://www.gofundme.com/2befu24c

So, until next time,

ZM.

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