Tag Archives: genetics

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

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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

X

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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Me, the Zebra

Burchell's zebra (Equus quagga burchellii) smiling, Tanzania
Burchell’s zebra (Equus quagga burchellii) smiling, Tanzania

I was asked to start a blog by a few fellow zebras to share my experiences of being a mom with a chronic illness. Well, here I am. Before I get into all that though, it is important that you know my backstory, how I got to this point. I’m sure many of you can relate to my story, my journey to diagnosis.

In 2012, I was interning at the Cork Independent newspaper. During my time there I happened to take a liking to writing the health section of the paper. My parents were both nurses and my sister, also worked in healthcare so while I didn’t strictly follow the family tradition, I still had a keen interest in health. That year I decided I was going to enter the European Health Journalism Awards. The theme I chose was rare diseases. So, I contacted the Genetic and Rare Diseases Organisation (GRDO) and asked to be put in touch with a rare disease sufferer. Later that week I interviewed a woman about her disease, Ehlers Danlos Syndrome (EDS). Little did I know that the answers I has been searching for about my own illness had landed right on my lap.

There is an old saying within the medical profession: ‘When you hear hoofbeats, think of horses, not zebras’. Dr Woodward, an American professor at the University of Maryland would instruct his medical interns to practice as the phrase suggests. You see, horses are common in Maryland, while zebras would have been relatively rare during the 1940s. So, one would assume that, upon hearing the sound of trotting hooves, that a horse would be the most likely explanation. I however, am a zebra.

My symptoms started as a child but got really bad by the time I was 14. Gradually, my knees began to hurt, especially when it was cold. By 16, it was unbearable. A few years later, the pain spread to my hips and ankles. The joints began to make popping and clicking noises. Frustratingly, blood tests for arthritis and x-rays all came up clear. Then I began to have problems with my stomach and experiencing fatigue. In college, I was vomiting almost everyday for a year and napped frequently. The fatigue hasn’t stopped to this day. A colonoscopy and endoscopy came up clear but my GP said it was irritable bowel syndrome. Some days, my abdomen swells so much, that I look pregnant. After my son was born five years ago, I had no choice but to fight the fatigue. I am not anemic, but as the months have turned into years, the tiredness has become overwhelming. The smallest of chores around the house are exhausting for me. Some days, I don’t even have the energy to get dressed and face the world. People commented on this and called me lazy. Without a diagnosis, I couldn’t give them a credible answer as to why I was sitting in my pajamas in the middle of the afternoon.

I was living in constant pain for years, feeling exhausted every single day and life on a day to day basis was unbearable. I felt as though I was going crazy. All tests, scans and x-rays were coming back negative and my doctors came to the conclusion that I was depressed, that my physical pain was a manifestation of something that was purely emotional.

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Yes, pain and sleep disturbances can be symptoms of depression. Of course by that point, I became depressed. These doctors were the experts and who was I to argue? I was put on nearly every single anti depressant available on the Irish market at one point or another. Still, the pain and fatigue continued, so after eight years taking these pills, day after day, I was numb, floating through life. I felt useless as a mother, wife and friend.

Of course, I did have my good days, especially during the summer when the weather was warm and my joints didn’t hurt as much. For the past two years, the joint pain has spread to affect my hands and wrists, my back and neck too. If I move a certain way, a joint may slide out and back in again. But things changed for me in 2012 when I interviewed that girl. For the purpose of anonymity, we will call her Anna.

Anna has a condition called Ehlers Danlos Syndrome (EDS). EDS is a Connective Tissue Disorder. People with the condition produce faulty collagen, which is the glue that holds the body together. In EDS, this ‘glue’ is more like chewing gum and causes the joints to be loose, often resulting in dislocations. However, collagen is present throughout all areas of the body and therefore EDS is a multi-systemic condition with secondary conditions present in most cases. When Anna explained her symptoms, I wondered did I have something similar? I was so touched by her story and felt connected to this young woman that we kept in touch. In the meantime I was put on a public waiting list to see a rheumatologist. But then, in late 2013, I was speaking on the phone and then everything started to go black; I felt hot, my heart was racing, I felt weak. I ran to the bathroom to lie down on the cool floor. This gave me such a fright that I decided I wasn’t prepared to wait two years to see a public consultant. I had to know what was wrong with me. I was going to get answers.

I organised a private appointment with a physiotherapist who confirmed that I was hypermobile. The pieces of the puzzle were coming together. Then I arranged an appointment with a rheumatologist in Cork, with an interest in EDS and Hypermobility Syndrome. Two weeks later, the doctor confirmed that I had Ehlers Danlos Syndrome. I cried with relief that finally I could put a name to what I had. After a decade of tests and scans I had taken the reins myself and finally got my diagnosis with just two appointments. The majority of doctors in Ireland are unfamiliar with EDS and there are no specialists available here in Ireland. If there were more awareness and training, I may have been diagnosed much earlier in my life.

After my diagnosis, I began weaning off the anti depressants. That was two and a half years ago and I haven’t looked back since.

I was on a high the day I got my diagnosis, but the next I had to face the harsh reality that I have a rare, lifelong and progressive disease. Luckily, my EDS is quite mild compared to some of my friends and hopefully more awareness will mean better treatment for me, and my fellow zebras in years to come. The biggest help for me through all of this has been Facebook and speaking to other people with EDS. They are enormously supportive and there is a real air of solidarity. Everybody is supportive and no matter how trivial I thought my problems were in comparison, the support has been immense. Hopefully, together, we can raise awareness about this debilitating disease and bring about an improvement in the services available especially for our children.

My son AJ is six years old. In 2014 he was diagnosed with Hypermobility EDS. I had him seen by the Rheumatologist that diagnosed me. AJ bruises very easily and I worried that teachers might question whether he was being abused. Sadly, this is not an uncommon fear amongst the EDS community. Children have been known to be removed from the family home as their parents are suspected of abuse. Thankfully, his school has been extremely supportive, even helping us organise an SNA for him. AJs’ EDS is extremely mild at the moment. But, he struggles in school, especially with concentration and writing. This is common with EDS kids. He has sensory issues, which makes it extra hard for him. His pelvis is also unstable so sitting for long periods is impossible for him. A care plan has been put in place for him in school next year. Alex is a happy child though and has never had a severe injury, as of yet, for this, I am thankful.

In 2015, I was diagnosed with Orthostatic Intolerance and Vasovagal Syncope. I still have a long list of referrals to attend to investigate the array of health issues. There is a question mark over MS, Chiari Malformation, Gastroparesis, to name but a few.

The latest addition to our family is our little Olliepop, our 9 month old daughter. Obviously, she hasn’t received any diagnosis yet. But, deep down, I know she has EDS. Her sclera are extremely blue, a sign of EDS. The Public Health Nurse also noticed how flexible Ollie is, so much so, that she has been referred to physiotherapy. She suffered her first dislocation at just 7 months old. I fear for my little girl and what may happen to her. But, having a parent with the same condition will work to her advantage. She will be believed. She will not go decades wondering what the matter is.

Until next time,

Z.M

A letter to my children

 

To my little darlings,

I am here watching you both sleep. It’s 5.06am and I’m awake because I’m in pain. It’s peaceful here with only the sound of you breathing, the cat purring at your feet and the tapping of my fragile fingers on the keyboard.  As I watch over you both, I think of all the things I wish and hope for you and your futures.

I wish that medical professionals will believe you when you tell them there is something wrong. I wish that when you tell your teachers you’re not feeling well, that you will be believed. I wish that when you tell me and your Daddy that you need help, that we can do that and to the best of our ability.

I hope that as you grow up, that we can do everything in our power to prevent you from experiencing the type of pain and anguish that I go through almost every day. I hope that I can be a good enough mom for you both. Most of all, I hope that you won’t grow up to hate me because I was too sick to play or get up out of bed. I hope that you will understand that I didn’t get up out of bed because I was saving my energy to do something fun with you another day.

I pray that you will grow up and live a normal life. I pray you will get the best education, in life and in academia. I pray you will find a job you love but never feel like it is work. I pray you find love, with man or woman and they will accept you with all your flaws and imperfections. I pray that you appreciate them, as I have appreciated your father for loving me, despite the difficult days. I pray they treat you the way your father has so graciously treated me.

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I know that should you experience any of the obstacles that I have faced, you will be far more equipped to deal with them than I ever was. I know you will be strong and determined as you have been in everything you do so far. I know that you will have days where life is just too damn hard, that there seems to be no end to the uphill battle but you will continue on. I know that when you should decide to become parents yourselves that you will know this guilt that I feel now, knowing that it was you who passed on these faulty genes. But, please remember; this is not your fault. You cannot control your genes as I could not control mine.

You begin to stir next to me now. No doubt you are looking for what you affectionately call “mama” as you nuzzle at my chest. And you, my love, at the end of the bed sighing in your sleep as if your dreams are giving you relief.

I want you to know that I love you, deeply and unconditionally. I hope that you know that I’m trying everyday to be the best mom I can and I pray that you will live a healthy, happy life.

All my love,

Mum.

 

 

 

Breastfeeding for the Chronically Ill-What you need to know

Breastfeeding has become such a touchy subject for the last few years and when ever it is discussed it inevitably becomes the breast vs bottle debate. Isn’t anybody else tired of this?! I blame the media (yes, I’m a journalist) because they have instigated ‘mommy wars’ in an attempt to generate more likes and followers on social media. I’m not here to debate ‘whether public breastfeeding is acceptable’ or ‘how long is too long?’ If you must know, I believe in breastfeeding to natural term which by the way, is anything up to 7 years of age. Will I feed a 7 year old myself? Probably not. Will I judge a mother who does? No. Her child, her business.

Anyway, this week I am offering some words of advice to chronically ill moms who wish to breastfeed or are thinking about breastfeeding. This is just touching on some points, if you want me to go into detail about anything, feel free to email me hello@thezebramom.com

1. Health benefits for mom

You’re chronically ill. God forbid you end up with any other ailments other than the crappy lifelong illness you are living with. Breastfeeding reduces a mother’s risk of developing certain cancers, diabetes as well bone conditions such as osteoporosis.

2. Health benefits for baby

“Exclusive breastfeeding for six months has many benefits for the infant and mother. Chief among these is protection against gastrointestinal infections which is observed not only in developing but also industrialized countries. Early initiation of breastfeeding, within one hour of birth, protects the newborn from acquiring infections and reduces newborn mortality. The risk of mortality due to diarrhoea and other infections can increase in infants who are either partially breastfed or not breastfed at all” (WHO)

If your condition is genetic, like mine, you may wonder whether it is worth breastfeeding at all. Absolutely, it is. Again, breastfeeding reduces your child’s chances of developing a massive range of illness and chronic conditions such as diabetes. Breastmilk is the perfect food for your baby. Anything else compromises their gut flora and may lead to problems such as coeliac disease and other food allergies.

3. Breastfeeding is the easier, less exhausting option

The first six weeks are tough and you feel like you are just feeding all day long. This is totally normal and necessary. For the first six weeks your baby is trying to establish your milk supply. Best thing to do is just sit back, relax and enjoy the time with baby. Think about how exhausting it would be if you had to prepare formula, sterilise, wash bottles etc. And the night feeds, Jeez! Having to get up in the middle of the night to make a bottle and wait for it to cool down, that is exhausting. I formula fed Bendy Boy and honestly, I was like a zombie.

After the six week mark your supply will settle and you will have a couple of hours between feeds to go about your day. Cosleeping is also really great for sick breastfeeding moms who need the extra sleep (if you are on medications that make you sleepy you will not be able to cosleep) Baby is close by that you can just pop boob in his/her mouth and you can drift back to sleep. Studies show breastfeeding and cosleeping moms get more sleep.

 

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4. It’s free and always ready to go.

If your condition has caused you to give up work, you might not have the funds to buy formula every week. You’re talking on average a tub of formula is €12. That’s €624 a year! Never mind the cost of bottles, sterilisers and electricity costs.

5. You can breastfeed on medications

I am a massive fan or Dr Jack Newman. He has been a Godsend for me when it comes to getting information on medications. Many misinformed health care professionals will tell you that you can’t breastfeed while on medications. This is not true at all. I am taking Tramadol and and Midodrene for pain and low BP. If you’re not sure about your own medications, check out the Lactmed app for android and iPhone, contact the Breastfeeding and Medications Facebook page or check out Wendy Jones’ factsheets on her website.

Paediatrician Dr Jack Newman, IBLC says:

“There is almost no drug that requires a mother to interrupt breastfeeding. The real question is which is safer for the baby: Breastfeeding with tiny amounts of drug in the milk (and it is almost always tiny) or formula? Clearly, in the majority of cases it is safer for the baby to breastfeed.”

Breastfeeding doesn’t have to be all or nothing. Every drop counts. If you can’t breastfeed yourself, the World Health Organisation recommends:

Milk from a wet-nurse, or
Milk from a milk bank, or
Breastmilk substitute (formula) fed by cup.

I expressed for my daughter for the first six weeks as she was severely tongue tied. I also used donor milk on a couple of occasions.

6. If you’re having trouble, go to a lactation expert

You go to see a cardiology consultant for your heart, a rheumatology consultant for your bones and joints so why would you not see a lactation consultant for breastfeeding? Breastfeeding is a learned skill and all mothers need help in the early days. Sadly, there is a huge lack of knowledge amongst health professionals when it comes to breastfeeding. Most health care professionals have little to no formal training in lactation (even a lot of midwives provide inaccurate information) so you will need to get in touch with an IBCLC or Le Leche League. Breastfeeding should not hurt and despite what some doctors (and the Fed is Best Foundation) might say just 1-2% of women will not produce enough milk. There are even some who say that some babies “just don’t the like milk” or that their baby is allergic to breastmilk (this is extremely rare and it’s far more likely your baby has a cow protein intolerance). Even if your supply is low, there are many things an IBCLC will help you to do to get your supply up such as a supplementary feeding system. If you are find breastfeeding difficult, do contact an expert as soon as possible to avoid further problems. There are so many myths out there so it’s important to talk to someone with extensive training.

If you have any questions, please feel free to comment below. I will do my best to help.

Until the next time,

Z.M