Category Archives: spoonies

A Simple Guide to The Ehlers Danlos Syndromes

UPDATE: On March 15 2017, criteria and classifications of The Ehlers Danlos Syndromes were updated for the first time in 20 years. In light of this, I will update my guide (with the new information made available) to highlight new diagnostic criteria and classifications. You can read more about the changes here.

Because there are now 13 types of EDS, I have only covered Hypermobile Ehlers Danlos Syndrome (hEDS), Vascular Ehlers Danlos Syndrome (vEDS) and Classical Ehlers Danlos Syndrome (cEDS). If you would like me to do another guide to the rarer types, please comment below or email me. I would be more than happy to oblige!

“You’re suffering from Fibromyalgia!” “You’re depressed!” “You’re imagining it!”

“You’re malingering!” “You’re attention seeking!-”

“No I’m not – I have an Ehlers Danlos Syndrome!”

 The Ehlers Danlos Syndromes (EDS) are a group of conditions that are poorly understood, even by many in the medical professions. It is essentially a defect in the production of collagen, an essential component of connective tissue.

Many articles about EDS contain medical terminology that can be difficult to understand. The purpose of this guide is to put the medical terminology in plain language and help non-affected family and friends understand exactly how EDS affects people and their day-to-day lives. The medical terminology is included in italics. Links to web pages are included throughout the article if you want to conduct your own research.

Why are they called The Ehlers Danlos Syndromes (EDS)?

The name of the condition itself is quite a mouthful! Ehlers Danlos Syndrome (Eylerz-Dan loss Sin-drome) is named after the two physicians, Dr Ehlers and Dr Danlos, who first described this group of connective tissue disorders.

What is EDS?

People with a type of EDS will produce faulty collagen. Collagen is essential for healthy connective tissue, which is found throughout the body supporting and connecting the different types of tissues and organs, including tendons, ligaments, blood vessels, internal organs, bones, the blood and skin.

Imagine a healthy person’s connective tissue as being like regular household glue. People with EDS have collagen that is more like chewing gum; stretchy and not very good at keeping things in place.

What causes EDS?

There are a number of different genes responsible for making collagen and connective tissue, so there are different types of EDS depending on which genes are faulty. There are 13 types of The Ehlers Danlos Syndromes

How did I get a faulty gene?

It is possible that the faulty gene may have been inherited from one parent, or both parents, or not inherited at all. It may be that the defect has occurred in that person for the first time. This happens in 25% of cases.

 How I explained it to my 7-year old son.

A carpenter makes a wooden chair. Instead of using wood glue to place the joints of the chair together, he uses chewing gum. Once finished, the chair looks fine. But, as time goes by and the chair is used, the chewing gum doesn’t work very well at keeping the joints together. Without proper glue the chair can begin to get wobbly. I went on to explain that with proper exercise he could help to strengthen his muscles so that they acted like binding around the joints to help support them.

What does EDS feel like?

Having an EDS feels different from person to person, depending on their type, but many describe it as having a lifelong flu. Have you ever had the flu? Do you remember how painful it was having those aches and pains in the joints and muscles? Do you remember how tired and run down you felt? That’s what it’s like for people with EDS only worse and it never goes away. In addition to the daily aches and pains people with EDS also have to deal with very painful headaches, gut issues and then of course there’s the issue of dislocation. Many EDSers can’t go a day without a joint popping out. It can happen simply by stepping off a footpath or picking up a pot when cooking. A lot of people with EDS are also affected by the weather. When it is damp or when the air pressure changes their pain can increase.

How does EDS affect people?

Because collagen is everywhere in the body, there are hundreds of ways EDS can affect people. Any two people with EDS may have very different signs and symptoms, this includes people with the same type. In som,e the condition is quite mild. For others it can be disabling. Some of the rare severe types can be life-threatening.

One of the problems with diagnosing EDS is that many diseases share the same symptoms. As a result, EDS can be easily confused with other conditions and it may be difficult for doctors to recognise. But there are ways to tell if someone may be affected by EDS and need more thorough investigation. Some of the investigations available are listed later.

The most common symptoms of EDS (hEDS and cEDS) are:

  • “Double jointed” – Hypermobility: joints that are more flexible than normal.
  • Loose, unstable joints that dislocate easily.
  • Clicking joints.
  • Joint and muscle pain

In addition there may be

  • Fatigue (extreme tiredness).
  • Injuring easily.
  • Fragile skin that bruises and tears easily. The skin may also be stretchy.
  • Digestive problems
  • Dizziness and an increased heart rate after standing up. (Postural Orthostatic Tachycardia Syndrome or simply POTS for short)
  • Incontinence of urine in women

Digestion.

If food in the stomach doesn’t move through the body to make its way out it may just sits in the intestines and can cause a feeling of fullness, nausea, vomiting, stomach pain, to name just a few symptoms. This condition is known as Gastroparesis. (gas-tro par-eesis).

Nervous System

Another condition than often affects people with EDS is a fault with that part of the nervous system controlling the “automatic” functions of the body; things like blood pressure, breathing, heartbeat, digestion, how hot or cold you feel and the way your organs work and so on. This is called the Autonomic Nervous System. When it doesn’t operate as it should the conditions is called Dysautonomia (Dis-auto-no-me-a). Common symptoms of this are trouble with digestion, dizziness and fainting.

Dysautonomia affecting the heart.

The most common type of Dysautonomia causes dizziness and an increased heart rate after standing up. This condition is called Postural Orthostatic Tachycardia Syndrome or simply, POTS for short.

Some sufferers have fairly mild symptoms and can continue with normal work, school, social and recreational activities. For others, symptoms may be so severe that normal life things like bathing, housework, eating, sitting upright, walking or standing can be very difficult. They may feel dizzy or even faint from doing these things.

What are the symptoms for POTS?

People with POTS experience fatigue (extreme tiredness), headaches, lightheadedness (feeling dizzy), heart palpitations (when their heart beats so hard you can hear and feel it), exercise intolerance (feel ill when exercising), nausea (feeling sick), diminished concentration (hard to concentrate), tremulousness (shaking), syncope (fainting), coldness or pain in the arms, legs, fingers and toes, chest pain and shortness of breath. People with POTS can develop a reddish purple colour in the legs when standing; this is believed to be caused by blood falling down in the body because of weak veins. The colour change subsides upon returning to sitting or lying position.

Can you tell someone has EDS just by looking at them?

The short answer is no. Some may have typically blue sclera (whites of the eyes), they may have translucent skin (see through) and you may even notice how bendy they are. But some people may have some of these things and not have EDS.

Many people with the type of EDS that affects blood vessels (Vascular Ehlers Danlos Syndrome or simply, vEDS) do have some facial characteristics. Notice in the picture below that the people have big eyes, thin nose and lips.

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Can EDS kill people?

Some people think it can’t but actually, EDS has led to the untimely death of people all over the world. vEDS is considered the most serious form of EDS due to the possibility of the heart or organs tearing.

Many EDSers live a life of constant pain. This pain and misunderstanding from their medical teams, families and friends can make a person feel very sad and alone which can lead to depression and even suicide.

What treatments are available for people with EDS?

Because EDS is considered “rare” there are not many doctors willing to learn about it. Types such as hEDS and cEDS can be somewhat managed through specialised physiotherapy. Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles around a joint can help stabilize the joint. Your physical therapist might also recommend specific braces to help prevent joint dislocations. Occupational therapy is also useful to help manage everyday life. Pain relief is very important for people with EDS.

EDSers should also be under the care of a Rheumatologist (a doctor who looks after bones and joints), a Cardiologist (heart doctor). There may also be a need for more specialised doctors such as Neurologists (doctors who look after the nervous system) or all of the above plus many, many more. Sometimes operations are required to repair joints that have dislocated frequently and haven’t healed properly.

Do all people with EDS need wheelchairs?

Not everyone will experience EDS the same way, some people can live normal lives and manage very well with physiotherapy and pain relief. Others may need to use wheelchairs or walking sticks to help them get around. Some people with EDS also have Gastroparesis which we discussed earlier and may need to be fed using a tube. Others may only have mild tummy problems. Some people with EDS may have to go to hospital a lot while some may only go to their GP every few months. But, just because one person can live their lives fairly normally, it doesn’t mean they don’t have EDS or that their pain shouldn’t be taken seriously.

Can you catch EDS, POTS or Gastroparesis?

No. EDS and other sub conditions are not contagious. If you know somebody with EDS, don’t be afraid, you’re not going to catch anything from them. So, if you’re avoiding someone with EDS, go make friends with them.

 How can I help someone with EDS?

Be there to listen if they want to talk about it. Some people are afraid to tell you how they feel because they think friends and family don’t want to hear them complain. Ask them how they are and if you can do anything to help them. Doing shopping or household chores can be a huge help and it would be most appreciated. If you’re friend or family member has EDS and can’t access appropriate treatment like here in Ireland, write to your local representatives to tell them about EDS and the lack of care that is available. Help raise awareness in the public by sharing articles or pictures about EDS. Experts believe that EDS is not rare, just rarely diagnosed.

I will update the Diagnostic Criteria for cEDS, hEDS and vEDS in the coming days.

*Special thanks to my Dad who helped me edit this guide.*

Do you think anything else about EDS needs to be explained? Let me know in the comments!

Z.M

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11 Crazy Things People With EDS Have Heard

I spoke with some fellow EDS zebras about some of the down right crazy things they have heard from health care professionals, friends and family about their condition. Comment below if you have anything you’d like to add to the list.

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1. You have EDS because you’re vaccine injured.

No. Just no. A vaccine isn’t going to alter my genes. Shoo! EDS is genetic. GEN-ETIC.

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2. You have EDS because you’re possessed.

Seriously. This came from a chap who works in my local takeaway. Offered to make me herbal blends to cleanse my soul. Thanks, but no thanks, mate. Stick to making pizza, k?

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3. You obviously have Lyme disease. That triggered your EDS.

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Yes, there are some overlaps with EDS and Lyme but the latter isn’t going to cause your collagen to magically turn into a chewing gum like consistency.

4. You have EDS because you’re stressed.

I was told the stress of my wedding caused my EDS. If that’s true then EDS must be far more common! We should all stay single. Job done.

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5. You’re husband is a lucky guy.

*insert pervy wink here* Shockingly, this came from a Doctor!

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This is the extend of my bedroom antics, Doc. Seriously, I’m more likely to pop out a hip than to climax.

6.You’re sick because you’re in a bad relationship

This was in the Doctor’s office and my husband was sitting right next to me. The only bad relationship here is with this Doctor.

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I mean, talk about awkward. If a Doctor was genuinely concerned about the patient, wouldn’t they wait until their patient was alone? Nobody is going to admit they are in a bad relationship in front of the person they are in a relationship with. Anyway, the point is martial issues are never going to cause a person to dislocate a joint.

7. You’re too young to be sick

Yes, because that’s how chronic illness works. You wonder if these health care professionals obtained their degrees from the bottom of a cereal box. Do you even science, bruh?

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I’m too young? Hold on a sec while I tell my body that I’m not actually 90 years old.

8. You’re too short to have EDS

I think you’re confusing my condition with Marfan Syndrome.

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9. A holy man once surrounded my hospital bed with his followers they started to chant and pray.

Well, that’s just creepy.

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Here, while your at it, could you pray for me to win the lottery so I can pay for my very expensive medical treatment? Oh it doesn’t work like that? Silly me.

10. Your son has EDS because you’re a bad parent.

Like, what the actual F?

The child’s mysterious problems are from his mother yelling at him and letting him get away with too much all at the same time. This was said by a paediatric consultant!

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11. Someone assumed because I was in a wheelchair that I was mentally affected.

I was seen in the wheelchair while being pushed by my husband and this old man saw me in the chair and automatically thought I had an intellectual disability. We had our dog with us and looked at me and said (in baby talk voice, no less) “is that your cat? Hah?! Is that your cat? What a lovely cat hah? HAH??!”

 I just looked at him smiled and said nicely “yeah funny looking cat, no?! The poor man looked shocked. He just said, “have a nice day” and skootled off quickly.

What do you do in a situation like that? Laugh? Cry? Both?

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Has any thing like this happened to you? Let me know in the comments!

Share this with your friends and family to help educate them.

Until next time,

ZM

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Our medical trip to London. Part 1

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?

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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.

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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.

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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.

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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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Household Gadgets for Spoonies-Part 1

What’s a “spoonie”? A spoonie is a person who suffers from a Chronic Illness. It is derived from Spoon Theory. When you are ill every. single. day, you need to decide what’s important. Do I shower or clean the bathroom? Although it might be a no brainer that you obviously choose the shower, for many of us, we have to forgo the shower otherwise the house will look something like this:

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Laundry-

When it comes to actually doing the laundry, it can actually be quite tough on the body with all the bending down to grab clothes out of the machine and reaching up to hang them on the washing line. To stop me bending down so much I bought a laundry basket with folding legs. I also bought a device that helps me fold clothes beautifully. I suffer from DCD like symptoms as does my son due to our EDS.

Top tip: Mountains of clothes stacked on chairs around the house? Everytime you do a load of laundry check the sizes, condition and try to remember the last time you wore it. Is it too big or too small? Put it in a bag to pass along to a friend or charity shop. Does it have holes in it? In all honesty, are you going to repair it? Bin it. Have you worn it in the last 6-12 months? If the answer is no, put it in the pass along pile. This will save you doing “the big clear out”.

Cleaning-

This is something everybody hates doing so can you imagine what it’s like for someone who may end up in bed for a week by doing simple cleaning tasks?

Hoovering and mopping the floors is a massive task for spoonies and can often lead to injury. Lugging around hoovers and buckets of water for the mop can often mean I dislocate or pull something. Hence why I don’t do the floors often! We did invest in a steam mop that can also be used to clean surfaces. I do the find the X5 to be a bit heavy so if anyone knows of a lighter model, let me know in the comments! What I particularly like about the steam mop is that you can clean without the use of chemicals.

I haven’t bought one yet but I’m dying to get a cordless hoover from Dyson or a one of those rob hoover/mops. Other spoonies have recommended them to me. Come on, how awesome is this?!

 

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Top tip: Fill one of these guys with 1 part dish soap and 1 part white vinegar. Keep it in the shower and wash down surfaces before you get out of the shower or while you are conditioning your hair. Simples!

If your shower or bath has mould growing around the rubber edges you can soak some cotton pads in bleach and place it on the mouldy areas. Leave them there for a few hours and then wipe clean. The rubber areas will be white again!

Tidying up-

If you have kids and are chronically ill, keeping the house tidy can be a full time job. We live in a two storey house which makes things that bit more difficult. Recently, I bought two little blue baskets. When I am tidying up I go to each room and put things in the basket that don’t belong in that room. Then, as I go from room to room I put the things where they belong. If you have visitors coming around and you need to tidy quickly-just fill up the baskets and leave them to sort later.

Top tip: This one is particularly handy for the little ones. Buy a timer. Each day set it for 5 or 10 minutes-whatever you can manage and for those few minutes do a little cleaning or tidying. It’s amazing what you can get done in such a small amount of time!

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Some other gadgets for cleaning and tidying:

 

Messy in the kitchen? Invest in some stove top protectors 

Dog hair everywhere? Dyson have an attachment you can use to hoover your pet

Slipper mops allow you to clean the floors while you walk to the fridge-or to bed.

A keyboard with storage is handy for extra wires, notes and pens.

I hope some of these tips have been helpful to you. Have any tips/gadgets you want to share? Hit me up in the comments and I’ll add them to Part 2.

Till next time,

Z.M

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