Tag Archives: connective tissue disorders

The fault in our genes and the guilt that goes with it

When you’re child is seriously hurt you can feel so helpless. You might feel guilty for not having a sharp eye on your little one when they injure themselves. If you have a faulty genes and a genetic condition that you’ve passed on to your child, there’s an added guilt.

Last Saturday two year old Ollie Pops N’ Clicks was playing happily with her Dad. We had a lovely day up till then, hubby and I were celebrating our five-year wedding anniversary. My Dad cooked us a beautiful lamb dinner and after we retired into the sitting room in front of the stove. Despite having a pain flare, I was content. That is until Ollie started screaming.

She was pulling on her Daddy’s clothes and then all of a sudden her arm was hurting. Nobody could touch it and if we tried to move it she cried. Hubby knew immediately that we were faced with something that happened in 2015. Ollie was just seven months old then. Her elbow was dislocated. She was behaving the same way she did that cold night in November of 2015.

Ollie 7 months
Ollie the morning after she dislocated her elbow the first time

So, we had to leave Bendy Boy with his Granddad for the night as we sped up to the Accident and Emergency Department (A&E) of the University Hospital. She fell asleep before we even made it out of town. I thought maybe she was OK now but when I touched her arm she woke up screaming.

What is a 45-minute journey felt like hours. We arrived into A&E and we were surprised to see how quiet it was for a Saturday evening. Then again, it was still pretty early. The drunks and those involved in fights wouldn’t be in for another few hours yet.

At the hospital

After we checked in, we sat in the waiting area. Looking around I saw a teenager with their arms in a sling, an old man with bandages around his head and another man with a black eye. I was worried that this scene would upset my already frightened two year old. You could tell exactly what was wrong with these people. All you could see when you looked at Ollie was a little girl with a sourpuss face protecting her little arm.

Just like before, the Triage nurse saw us fairly quickly, when we explained what we think had happened and that I have Ehlers Danlos Syndrome. This is a result of my faulty collagen genes. We were taken into the ward.

The last time Ollie was seen in A&E at just seven months old, she had to have an X-Ray. It was torture for us both. I had to move her tiny little arm around in different positions. She cried, I cried. This time however, there was no need to X-Ray because of her history.

When I told the on call doctor that I had EDS, he asked could he have a look at my hands. He bent my fingers back and pulled on my skin. He nodded and turned to little Ollie who was finishing off her second ever dose of painkillers. In two years she’s never been ill enough to need any type of medication. The only time she’s had Calpol is the first time she dislocated her elbow.

Like a punch to the stomach

me and kids
You do what you can to protect them

Anyway, he attempted to take Ollie’s hand but she was petrified. He did eventually manage to get it and within seconds. He confirmed it was dislocated and he said it’s pretty safe to say that my beautiful daughter has EDS. She has inherited my faulty genes. It was like a punch to the stomach.

We knew this since pregnancy but every time I hear a doctor say it again, the guilt gets to me. Ollie is not officially diagnosed with EDS. We hope to rectify that soon just in case social services do get involved during a future trip to A&E.

Like nothing ever happened

Within forty minutes of arriving at A&E we were out the door. Ollie was back to her old self again and I’m pretty sure she was on a sugar buzz after that medicine. She kept talking about how the doctor fixed her and that she was all better now. We arrived home and the three of us sat on the couch to unwind after a stressful couple of hours.

Ollie climbed on me and fed until she was ready for sleep. She then sat up and threw herself on to the couch. I watched her sleep for awhile. She looked so peaceful and you’d have never had known she was in agony just an hour before. We carried her into her new room and didn’t see her till morning. It really is amazing how resilient kids are and that does make it a lot easier to live with a condition like EDS.

Ollie after hospital
Like nothing happened

I know I cannot control my genetics and that I shouldn’t blame myself for Bendy Boy’s diagnosis and Ollie’s inevitable diagnosis. But, I can’t help it; this illness comes from me. If Ollie is dislocating this early on in life it doesn’t bare thinking what will happen, as she gets older.

What does the future hold?

When she starts playschool, when she’s old enough to play outside with friends, when she climbs a tree for the first time. Then there’s puberty. The majority of girls with EDS experience an increase in symptoms when they reach puberty. This is because the hormone, progesterone wreaks havoc on our bodies. Progesterone makes us lax. It’s why girls and women suffer more during their periods and in pregnancy.

How many more times is she going to be in hospital with an injury? Is she ever going to work or have a normal life? These questions whiz around my head. I try to say to myself what I would say to anybody in this situation; cross that bridge when you come to it.

Overcoming the guilt of faulty genes

But, I will eventually overcome this guilt. How? Because I know I am the best person to get my children through what they will face later down the line. I know what they need, who they need to see and where I can take them to make all this happen. The fight for access for appropriate medical care of which there is none in this country will be my biggest challenge. I will take them to the doctor or hospital as many times as they need and I will do it with empathy.

They will be believed when they tell me they are in pain, because I know what it’s like not to be believed. Not being believed by my parents, by friends and by doctors affected me greatly and I still carry that pain around with me. That pain can be just as great as the physical pain my genes have caused me. An old friend once said that she would rather face a pack of rabid Rottweiler than a parent who wants to protect and fight for their children. If you mess with my kids and their health, I’ll go through you for a shortcut.

Be your child’s champion

The Fault in our genes

Having EDS myself makes me the best advocate for my children. Any patient with a rare disease becomes his or her own expert. I will now be the expert for my children too. From how their genes work to the treatment they need, I will be their champion.

It is a great comfort knowing that they will always have each other to lean on for support. Even when I am not there anymore to fight for them, they can fight together.

So, for anyone out there who is feeling guilty for passing on their crappy genes, know this; it is not your fault. I know more than anybody that it’s hard not to. Take a leaf out of my book; take that guilt and turn it into something positive. Raise awareness of the condition, fight for proper treatment, do everything in your power to make your child’s experience with their condition better than what you experienced.

Until next time,

Z.M

x

 

 

Marfan Syndrome Awareness Month-Guest Blog

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February is a special month to me, not because of Valentine’s day or a birthday, but because it is Marfan Syndrome Awareness Month. This is a month where I can shout about my rare condition as much as I like, trying to inform and educate as many people as possible. Conditions like mine don’t get a lot of awareness so awareness days and months are a great opportunity to teach people a bit about your condition. Mine is called Marfan Syndrome and it’s a rare genetic connective tissue disorder.

Think of the connective tissues in your body as glue, they help maintain the structure of the body, internal organs and other tissues, so they are pretty important! These tissues are found all throughout the body as well so Marfan can affect everything from your heart to your joints. It’s a genetic condition so most people inherit it from a parent, I inherited it from my Mum, but sometimes spontaneous mutation occurs which is when the gene just changes. The condition is mainly known for the life threatening heart problems that can occur as a result of it. Marfan causes the tissues in the body to become too stretchy and this means that the aorta, the main artery in the heart, is able to stretch beyond what it should, this is called an aortic aneurysm. Then if this is left to continue further the aorta could tear or even burst, this is called an aortic dissection and sadly both my Grandad and Uncle passed away from one. My aorta is currently stretching towards the point where I’ll need major open heart surgery to replace part of it, my surgeons reckon I’ll need the surgery in my earlier twenties.

That’s the not the only problem that Marfan has caused me though and not the only problem that has/will require surgery. Growing up as a child I only had mild joint pains and joint hypermobility but when I was a young teen I was diagnosed with Scoliosis, the sideways curvature of the spine. At first we thought that it wasn’t going to get much worse but unfortunately it got a lot worse and I ended up needing surgery to correct it. Surgeons spent 6 hours straightening my spine using metal rods and screws, it was a pretty brutal surgery and the recovery was tough. I also suffered a complication though and almost a year after the first surgery I had to go back into the operating theatre to have a screw replaced because it was sitting on a nerve and causing me severe pain.

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After that my hips started hurting so off I went to the doctors again, I was referred to see a hip surgeon and x-rays revealed that I had another secondary condition because of Marfan. I had a hip deformity called Protusio Acetabuli which basically means that my hip joint sockets are too deep which is causing early wear and tear and cyst formation in the joint. I had my right hip replaced when I was 18 and my left hip will also need replacing but the 3rd diagnosis that came after that is complicating that situation. During that whole time I also had ever increasing pain in my lower back that was so severe that I had to start using a wheelchair and then a powerchair. MRI and CT scans revealed that I had a large 5.5cm Tarlov cyst sitting in my sacrum, the triangle bone at the end of your spine but before your tailbone. It’s a cyst that grows out of a nerve root and fills with spinal fluid, putting pressure on nerves causing pain and it also cause me severe headaches and migraines. The cyst is also eroding away my sacrum which is leaving me at risk of fracturing it, hence why the left hip replacement isn’t being done yet as the force of that surgery would almost certainly fracture my sacrum.

I also suffer with regular joint dislocations and subluxations as well as severe chronic pain and fibromyalgia. I’ve managed to turn my bad experiences into a good thing over the years though, I use my blog and social media platforms to raise awareness and I’ve also been able to work with some great charities such as The Hypermobility Syndrome Association and The British Heart Foundation. It can be lonely and frustrating at times having a rare condition but I find that the online spoonie and disabled community really help that, even if you aren’t talking to people with the same condition.

The last thing that I want to leave you with is some of the signs and symptoms of Marfan, key characteristics of the condition to look out for: being tall and slim with long arms, legs and fingers, hypermobile joints, small lower jaw, high roof of the mouth, flat feet, breastbone deformities, crowded teeth, scoliosis, lens dislocation in the eye(s), early cataracts & glaucoma and aortic dilation/aneurysm.

You can find out more about Marfan Syndrome and Shona’s experience with it on her blog: Shona Louise.

 

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.

veds_type_poster3_2

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

x

 

Famous, fabulous and flexible

 

Exploring the world of hypermobile celebs.

Cherylee Houston

Corrie’s Cheryl Houston is probably one of the most famous people who suffers from Hypermobility Ehlers Danlos Syndrome. Cherylee has done fantastic work raising awareness about the condition through EDS UK. She is Coronation Street’s first full time disabled actress.

National Television Awards, The O2, London, Britain - 22 Jan 2014
Mandatory Credit: Photo by David Fisher/REX Shutterstock (3525294ld) Cherylee Houston National Television Awards, The O2, London, Britain – 22 Jan 2014

 

Gary Turner

Gary ‘Stretch’ Turner can stretch the skin of his stomach to a distended length of 15.8cm or 6.25in due to Ehlers-Danlos Syndrome.

He is even in the new book of Guinness World Records!

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guinness world records best bodies Garry Turner skin guinnessworldrecords.com https://www.facebook.com/GuinnessWorldRecords/timeline

Mylene Klass

UK Singer Myleene often shows off her hyper mobile elbows. She can even play the piano backwards!

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Kelly Osbourne

Various articles state that Kelly suffers from hypermobile hips that frequently pop in and out. Reports even suggest that the fashionista’s hips pop out unexpectedly causing her to fall over. During her stint in Dancing with the Stars she said: ”I’m double-jointed everywhere, I think that’s why I’m so accident prone. Tight jeans and high heels equals one of my hips popping out and my face on the floor. As a result of this curse, I can fall perfectly. I turn it into a dance move.” (Xposé.ie)

Ouch! By the sounds of it, Kelly suffers from a hypermobility syndrome.

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Shakira

The pint sized Columbian singer isn’t shy about showing off her tricks. She can pull her legs over her head which “really freaks people out”.

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A Few Honourable Mentions

It is believed although not proven that historical figures such as Abraham Lincoln and Anne Frank suffered from connective tissue disorder,Marfan Syndrome.

Abraham Lincoln was 6″4. The president’s lanky build, his long, thin face, and his enormous hands and feet, sparked the notion that Lincoln might have had Marfan Syndrome. Geneticists and historians have debated this idea since it was first proposed in the early 1960s.

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Anne Frank, the famous German diarist who hid in her attic during World War II is believed to have suffered from Ehlers Danlos or some other Connective Tissue Disorder such as Marfan Syndrome. When talking about P.E in her diary, she says:

I’m not allowed to take part because my shoulders and hips tend to get dislocated.

Anne’s facial features also suggested she may have suffered from EDS. Her large eyes, thin nose and lips are common features in EDS sufferers.

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There is a wide belief amongst medical professionals that both Elizabeth Taylor and The King of Pop, Michael Jackson both had EDS.

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Note how bendy the actress’ elbows are.

Dr Diana Driscoll explains in the video below the reasons she believes Liz Taylor had EDS.

Interestingly, Michael and Elizabeth were friends. It is known that Michael suffered from chronic pain and insomnia, both of which are common symptoms of EDS. In addition to his hypermobility, it is possible to assume the late singer battled with the syndrome. Watch below from 16:40. Professor Rodney Grahame, one of world’s leading expert explains why he believes Jackson had Ehlers Danlos Syndrome.

While we have mentioned syndromes such as Marfan and EDS, it is important to note that 10% of the population are hypermobile and will not suffer from pain or complications. Many people with hypermobility live perfectly normal lives, some even use their bendiness to their advantage by taking part in Ballet and Gymnastics.

Have you spotted any bendy celebs? Hit comment and let me know!

Until next time,

Z.M