Category Archives: Awareness

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.

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

 

 

 

Common Breastfeeding Myths Debunked

There has been a lot of misinformation spread around lately in the press regarding breastfeeding. Unfortunately, celebrities have a lot of influence over society and those influences can be pretty detrimental to people’s health. Don’t believe me? Just look at the role former Playboy bunny, Jenny McCarthy had in the “anti vaxx” movement. This woman, with zero qualifications in anything, managed to convince millions of people that vaccines were responsible for autism. Even though Dr Wakefield, the man who was responsible for these falsified reports had his license revoked. There are still millions of people across the world that believe vaccines give children autism. Even though scientific studies are now showing that the condition is in fact, a consequence of genetics. So when celebrities such as Amanda Brunker spread false information like “watery breast milk”, what she is doing, whether she means to or not, is solidifying the doubt in some woman’s mind that she may not actually be “good enough.” Women are generally so hard on themselves and unsurprisingly really, with magazines and products telling them they are not enough, that they need to change themselves beyond recognition. We are a culture obsessed with having it all and being it all.

Celebrities have a huge responsibility when they speak in public. They should be informed on the subject matter they are talking about. Amanda’s recent column just goes to show women are not educated about breastfeeding at all. We all hear the “breast is best” mantra but what the majority of people don’t know is that breast is just the biological norm, it doesn’t have this long list of advantages, it’s just that formula has it’s disadvantages. We are barely educated about infant feeding, never mind feeding past infancy. It’s funny, if you want to get married you have to jump through so many hoops, like doing a pre marriage course but, when it comes to children we have a very “ah sure it’ll be grand” sort of attitude. In some respects, it is best to have a laid back attitude but, all choices regarding our children, especially when it comes to their health, should be evidence based and researched. And by researched I mean using official sites such as who.int, not some “truth” website.

If people did go and actually educate themselves about breastfeeding and breastfeeding past infancy, they would learn that in the second year of life 448mls of breast milk contains:

29% of energy requirements

43% of protein requirements

36% of calcium requirements

75% of vitamin A requirements

76% of folate requirements

94% of B12 requirements

60% of vitamin C requirements

Of course the longer a mother breastfeeds, the more protection she builds against illnesses such as breast and ovarian cancer. In fact, feeding for three years or more can reduce your chances of developing breast cancer by 94% That is huge! Yet society begrudges the women who do feed beyond the year mark-some even believe a child should be weaned earlier.

It was recently reported in the Irish Times that our low breastfeeding rate is costing the state €800 million a year. Nestlé recently announced they made a profit of nearly €80 million from Ireland alone in 2014. Formula is big business. Many I’m sure would be shocked to know that just €100,000 is spent promoting breastfeeding while maternity hospitals such as CUMH and UHL spend between €30,000 to €40,000 of tax payer’s money on formula every year, and that’s excluding the teats. So why do we have such poor breastfeeding rates?

If you ask me, and yes I know, nobody has, it’s because of misinformation. Pure and simple. So, with that in mind, I spoke with two experts about some of the most common myths surrounding breastfeeding.

Jack Newman, MD is a Canadian physician specialising in breastfeeding support and advocacy. He is also the co-author of ‘Dr Jack Newman’s Guide to Breast Feeding.’

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Based in Cork, Midwife and Breastfeeding Consultant Clare Boyle has been working in Ireland for the past 10 years. Clare teaches antenatal classes, breastfeeding preparation classes and provides breastfeeding support. See breastfeedingconsultant.ie for more information.

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Myth: Many women cannot physically breast feed or don’t produce enough breast milk.    

Dr Newman: This is not true.   There are a very few women who truly cannot produce all the milk the baby needs, but that doesn’t mean they cannot breastfeed.  They can supplement the baby at the breast with a lactation aid. In the vast majority of cases, mothers could have produced enough milk, but poor advice and poor ‘help’ undermined their breastfeeding.

Myth: Breastfeeding is supposed to hurt.  

Clare Boyle: Breastfeeding is actually meant to be a pleasure and joy to do and pain is not normal. Think of it from a biological point of view; would our foremothers continued with breastfeeding if was painful and difficult to do continue?   No, they would have given up and we, as a species, wouldn’t be here!   When a baby is latched on correctly there should be nothing more than a gentle tugging sensation and then the hormones we produce with breastfeeding – oxytocin, prolactin and endorphins – all help the mum bond and fall in love with her baby making it a pleasure and joy to do.

Myth: You can’t take medicines and breastfeed.  

Dr Newman: 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.

Myth: You can’t work and continue to breastfeed.  

Clare Boyle: I routinely help mums at around the six-month stage to co-ordinate breastfeeding and work requirements.   It takes a little organisation and planning but in the vast majority of cases, it can be done quite straightforwardly and it is lovely for both of you to connect through breastfeeding after being separated for the day.

Myth: You can’t drink alcohol and breastfeed.  

Dr Newman: The amount of alcohol that gets into the milk is tiny.   If you have 0.05 per cent alcohol in your blood, your milk will contain 0.05 per cent alcohol.   A baby could drink this all day and all night and not be harmed.

Myth: You can’t breastfeed a baby with disabilities such as Down Syndrome.  

Clare Boyle: Any baby with a disability can benefit hugely from breastfeeding.   The act of breastfeeding can help with neurological development and can help the baby mature and reach their full potential.

Myth: Premature babies must be ‘topped up’ with formula.  

Dr Newman: The majority of premature babies are not tiny, but born at 32 or more weeks gestation.   If the mother gets the help she needs for such a baby, there is no reason the baby cannot breastfeed exclusively.   For the very small premature babies, they can get to exclusive breastfeeding, again with good help, which unfortunately is rarely available in countries outside of Scandinavia.

Myth: It is easier to formula feed than it is to breastfeed.  

Clare Boyle: Breastfeeding is a learned skill, for most women it takes about two to four weeks to get the hang of it.   Feeling a bit overwhelmed and stressed about it in the early days is completely normal.   Once a mum has mastered breastfeeding, it just gets easier and easier.   It is important to remember that you will be feeding your child for many years to come and with breastfeeding it will never ever be so easy to feed your child the best food there is. There is no shopping, no sterilising, no mixing, and no cleaning up. Just pop baby on anywhere, anytime.

Myth: Formula is just as good as breast milk.  

Dr Newman: Not according to thousands of studies.   In fact, breast milk is so different from formula; you cannot consider them even similar, except that both are white.   Breast milk contains dozens of immune factors, not just antibodies, growth factors that help the brain, the gut, the immune system, the hematological system to develop stem cells, none of which are present in formula.   Human beings are very adaptable, that’s why many babies do OK on formula.   But they don’t, as a group, do as well as breastfed babies.

Myth: It is selfish to breastfeed because Dad can’t bond with baby.  

Dr Newman: This is the formula company line.  Every ‘information’ brochure I have seen that comes from a formula company mentions giving ‘dad a chance to feed the baby’. They know that bottles interfere with breastfeeding and that one bottle often becomes two bottles and then three and then the mother can’t keep up with pumping and so they end up giving formula and then eventually the baby stops breastfeeding.  But who said that feeding the baby is the only way a father can bond with his baby? Most mothers would be extremely grateful if the father helped out in other ways.  Walking, talking, holding the baby, changing the baby’s diaper, singing to the baby, bathing the baby.

Myth: Feeding a child past infancy is weird and unnecessary.

Dr Newman: The reason breastfeeding beyond infancy is “unsettling” is that many people, even health professionals who should know better, think it is and thus mothers are shamed because they are breastfeeding toddlers, they are told they are causing their children harm, and this without any basis in fact.  The WHO/UNICEF state, as do paediatric societies in most countries of the world, that baby should be exclusively breastfed for 6 months and then breastfeeding should continue to two years and beyond.  There is no distinction made for “advanced countries” and “less advanced countries”.Furthermore, one reason that breastfeeding a toddler is consider unnecessary is that people look only at the nutritional aspects of breast milk.  Sure, if a child is a wide variety of foods in ample amounts, does he need the protein from breast milk?  No.  But breast milk is more than just protein, fat and carbohydrate.  Breast milk is also immunity, and that continues as long as the child is breastfeeding.  We have good evidence that children in daycare, for example, who are breastfed are much less frequently affected by the epidemics of infectious diseases that sweep through daycare and if the breastfed infant or child does get sick, s/he is usually much less severely ill than their mates who are not breastfed.  In addition, breast milk contains growth factors that stimulate the development of the brain, the gut, the immune system itself.  Indeed, every system of the body.And finally, breastfeeding is much more than breast milk.  Breastfeeding is a relationship, a close, intimate relationship between two people who are usually in love with each other.  We should all have been so lucky as to have had such a relationship.

So there you have it, straight from the experts.

Till next time,

ZM

 

22 thoughts I had about my cervical check

January is Cervical Cancer Awareness Month. According to Cervical Check, during the 2013/2014 period, over 25,000 Irish women had a low-grade abnormality detected and over 5,421 women had a high-grade abnormality. Fifty-nine women were diagnosed with cervical cancer.

 I received a letter from Cervical Check after my daughter was born to remind me I was due a smear test. Here are a few of the thoughts I had during the whole process.

1.I can’t do this; I just had a tooth out. That’s enough invasiveness for one week I think. Yes. I’ll reschedule.

2.It’s been 8 years; I really need to do this. I’ve read so many stories about young women getting cervical cancer and wishing they had gone for their smears earlier. God, I really shouldn’t have let this go for so long.

3. Shower! Bad enough the nurse has to do this at all. Least I can do is shower.

4.Right. I’m here. Let’s get this done.

5. Maybe I should have tidied up? Nah, surely she won’t give two hoots. I’m not quite “70s chic,” just yet.

6.Why did I have to wear skinny jeans and Doc Martens? These are so awkward to get out of.

7. Goosebumps on my bum, how attractive. Bad enough this white derrière hasn’t seen a day of sunlight in years but, now it’s all chicken like.

8.This must be the worst part of this nurse’s job. How are all gynecologists not celibate? Would you not be sick of looking at it?

9.Oh that clamp thingy. We meet again. Yes, I remember you. I will accommodate you but only because it’s for my benefit.

10. No amount of lube is going to make this comfortable, lady. Went in without any issue though! Guess that was enough lube.

11. F**k! That’s cold. I didn’t remember how cold it was. Jaysus.

12.This hurts. Quite a lot. Maybe I still have that erosion on my cervix from when I was pregnant? What does that even mean? They never really explained that well at the hospital.

13. Make appointment with female GP about this. Surely it shouldn’t hurt this much.

14.Discharge? Yes. Isn’t that normal? Doesn’t everyone get that?

15. Phew, it’s out. Thank God for that. Don’t have to do that for another three years.

16. How long of a wait?! They are still sending them to America? We really need more resources here.

17. No, my period hasn’t returned. Go breastfeeding!

18. I wonder will that affect the results? Must Google that later.

19. I won’t leave it so long next time. God. That was quite stupid of me, leaving it this long. I would be killing my friends if they left it this long.

20. I wonder when my husband will start getting prostate checks? LOL-in my head. So. LOLIMH? I don’t know.

21. That wasn’t so bad after all. The dentist was so much worse. I feel like I should treat myself now. What’s an appropriate reward for a smear test? New knickers? Cake? Mmmmm cake

22.I’m hungry now. I wonder what’s there to eat at home.

For more information about smear tests, see www.cervicalcheck.ie

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

5 must haves for an EDS pregnancy

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This blog post is sort of the reason I started this project in the first place. I was approached by a few EDSers who are thinking of starting a family or expanding their brood. They asked me to share my experience with them. There is some research out there about EDS and pregnancy but not a whole pile.

Firstly, before you begin trying to conceive, talk to your doctor.

Contrary to what many people believe, EDSers suffering from the hypermobility can experience very normal pregnancies. There are cases of course where labour may spontaneously start before the estimated birth date. It is the vascular type of EDS that causes the real concern amongst doctors. In my case, I developed symphysis pubis dysfunction (spd) very early on in my pregnancy which up until 12 weeks ago, put me in a wheelchair and caused me to use my smart crutches. SPD is fairly common in pregnancies in the general population but because of laxity in the joints already, EDS may produce a severe case.

Anyway, my pregnancy was quite difficult purely because of the pain. The baby and myself were generally in good health up until the day I was induced, but I’ll explain that another time.

So here are the main things that got me through my pregnancy and what I would also suggest to anyone planning on starting a family

1.Get as fit and healthy as possible

We had been trying to conceive for about 6 months when I fell pregnant. During that time I was actively loosing weight. I had put on lots of weight in the previous 8 years, and to take some pressure off my joints, I decided enough was enough. I lost almost 2 stone and I really think that made a huge difference to my fertility. I had also been getting more active, making the effort not to throw myself into bed at the first sign of pain and fatigue. Research also shows that the fitter you are in pregnancy, the easier your labour will be, should you have a straightforward vaginal birth.

2.Support, support and support.

The first and last trimester is tough for a lot of women, never mind anyone with additional issues such as gastroparesis or dysautonomia. It is vital you have a good support system in place, especially if this is a subsequent pregnancy and you have other children to care for. Luckily, my husband is at home full time so I could rest when I needed to. I know not everyone can afford a situation like ours.
If you have family or friends who are willing to help out by cooking, cleaning or looking after other children, take their help. Grab any offers with both hands and don’t be afraid to ask for help!

Make sure you have support from your health care professionals too. Both your GP and obstetrician should be made aware of your conditions and any meds you might be on. You should also talk to your GP about Physiotherapy and Occupational Therapy to help you cope during pregnancy if you don’t already have therapists in place.

It’s funny, some women with EDS greatly improve during pregnancy while others’ symptoms get worse. Pregnancy can increase laxity and therefore the incidence of injury may increase. Investing in some supports or mobility aids can make day to day life a little easier. It can often mean the difference between getting out of the house or looking at the same four walls for days on end. My smart crutches and wheelchair were a Godsend. I also had a belt to support my pelvis, it made the area feel more stable.

3. Relaxation and rest

Pregnancy is hard on the body, fatigue has been one of the biggest complaints I’ve heard from other women with EDS. The tiniest chore may mean spending the rest of the day in bed. While it is important to stay active as much as possible, it is also important, particularly for EDSers to get plenty of rest. Listen to your body! Cleaning the kitchen cupboards might sound like a great idea to a nesting mom but will it be worth spending the next few days in bed? Save your spoons for your doctors appointment or lunch with your friends.

Your friends might want to throw you a baby shower but if you’re having a particularly bad episode of fatigue or a pain flare up, being the centre of attention may not be your thing. Suggest a chill out girly day at home, binging on Netflix and sweets or a spa day. My Dad’s girlfriend took me to a spa during my pregnancy. It was my first time having a massage (I’m 28) so you can imagine how much I looked forward to it. Although it was very relaxing, it did require spoons. I slept a lot the next day.

4. Creature comforts

Pyjamas, Netflix subscription, a good book. There will be bed days, it’s inevitable, so be prepared. I have the Netflix app on my tablet and my phone so entertainment was always at hand. Of course no bed day is complete without a pair of super comfy pyjamas. I don’t know if it is an EDS thing, but all my clothes, including my PJs always feel tight come the end of the day. No-I have not put on 3 lbs during the day, it just happens. So when I was pregnant I always bought jammies a size too big – for maximum comfort. Don’t buy anything fleecy! If your in bed all day, you’ll just end up feeling hot and bothered – and not in the good way!

5.Have faith

As I write this piece I am nursing my little girl. Every time I look at her, I think how she was worth every second of pain, every hip pop, every day stuck in bed, the scary situation were in just before and after birth was worth having her in my life. During the pregnancy, there were days I panicked and thought, this is a mistake, why did I do this? But having Ollie pop here with us has made life so much better! I feel better too, I’m out and about so much more now. I’ve kicked my physio up a notch – her birth gave me an extra push to work hard to make myself as well as possible.

I wish you health and happiness.

Z.M

You just can’t be sick

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Having any disability is difficult but for those who suffer from invisible conditions, it is a constant uphill battle. In addition to fighting their own conditions, they must also face discrimination and feel like they have to prove they are in fact, genuinely disabled.

As the name suggests, invisible disabilities are quite hard to detect, just by looking at someone. You can not tell if someone suffers from migraines, depression or diabetes just by looking at them. While you may have the best intentions, some of the following statements should never be said to someone with a chronic or invisible illness

“But you don’t look sick/But you look so well.”

While you may be trying to make the sufferer feel better, it can often come across as being accusing. Bear in mind that people with invisible illnesses probably hear this on a day-to-day basis. Not all illnesses are obvious and quite often the sufferer just puts on a brave face or you may have caught them on a good day.

“It could be worse, you could have cancer.”

Of course things could be worse, but if the sufferer has a chronic illness that doesn’t have a cure, they will be facing this condition for the rest of their lives and for some, it doesn’t get much worse than that. As for the cancer reference, just don’t..cancer goes one way or another, the person you are talking to may never be cured or won’t die as a result of a condition. Chronic illness means a life time of suffering.

“You should try this, it worked really well for my aunt, uncle, grandfather etc”

Oh this one really grinds my gears…
Again, you may mean well but unless you are a medical professional, or you also suffer from the condition, keep it to yourself. Anybody who suffers from a chronic or invisible condition wants to get better and have probably tried all treatments available to them. The Paleo diet isn’t going to fix faulty genes, or cure depression. And no, vaccines did not give me EDS!!!!

“It must be great not having to work”

My response is usually “😑”

Most people with chronic disabilities would do anything to live a normal life! Everyone wants to be independent and to have a good income to support their families. Being stuck at home all day can also effect a person’s mental state.

“You just need to exercise more”

Of course everyone should be doing some form of regular exercise. Physiotherapy and other exercises are hugely beneficial and important to maintain ones health but, going for a run or taking up a dance class can often make sufferers feel worse, especially if they have something like Autonomic Dysfunction.

“You are too young to be sick”

NEWSFLASH…
You don’t have to be elderly to be sick! You can become ill or stressed no matter what your age. Illness or disability isn’t age-dependent. Saying this to someone with an invisible condition can often make them feel self conscious about their inability to do normal, everyday tasks such as getting out of the house to get the groceries.

“It is all in your head”

Of all the things people with invisible conditions hear, this is undoubtedly the most dangerous. Sadly, not only is it heard from friends and family, sufferers can often hear it from their doctor. It is not uncommon for people suffering from physical disabilities to suffer from mental illness, and all because they were not believed.

But what can be the worst thing of all for someone with an invisible disability is for them to hear nothing at all. Someone who comes across as being totally disinterested, ignores the subject or just nods can be the most hurtful of all.

Things you should say to someone with an invisible or chronic condition.

“I believe you”

This can often be the nicest possible thing someone with an invisible condition will hear. Too often, sufferers will spend years battling with health care professionals to find an answer. When they finally hear “I believe you,” a huge weight will lift from their shoulders.

“I looked up your condition online”

Someone who takes the time to learn about a condition is very much appreciated amongst those with disabilities.

“How can I help?”

Taking a person shopping, for a cup of coffee or bringing them to their appointments can make all the difference. Sometimes someone with a chronic condition doesn’t leave the house for a long time, or misses a lot of school or work.

Adding to the difficultly of their illness is the feeling of being forgotten or left behind. Even if you can’t take time out of your day, a text or a phone call letting them know you are thinking of them may be a small act for you, but a big gesture for the recipient.

“I’m here”

Two very powerful words but, don’t say it unless you mean it.

I hope people who hear these things on a daily basis won’t feel so alone. Sadly, we will face ignorance in our lives. We will come across some moron who harasses you because you have a disability badge on your car. It’s inevitable. Chin up. We may be ‘invisible’ but we still have our voices to educate and create awareness.

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To all the people out there who are skeptical of one’s illness, remember this; never judge a book by its cover. As cheesy as it sounds, it’s true.

So until next time,

Take care of you

Z.M

x

Rare Disease Day 2016

How appropriate that this year’s RDD falls on a leap year! This year’s theme is ‘Patient Voice’. Ironically, this theme could have two meanings as SO many of us have been patient. Patient waiting for treatment, waiting for a cure and waiting for acknowledgement. Acknowledgement from friends, family and health care professionals.

There are approximately 7,000 different rare disease worldwide. Rare Diseases make up more people than of those who suffer from cancer and AIDS combined yet, there is very little available to us in regards to health care.

In Ireland, we are still waiting for the Rare Disease plan to come into full effect. Something that should have been implemented back in 2014. Here, people with rare diseases are simply left to rot. Here I have linked an article I featured in not long after receiving my diagnosis of EDS.

I have always taken advantage of RDD and other international dates to highlight the plight of those with EDS. Here is what I organised for last year’s Rare Disease Day:

Here is some more information about the upcoming Rare Disease Day on 29 Feb from the official site:

Slogan: Join us in making the voice of rare diseases heard

Rare Disease Day logo
2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day.

On 29 February 2016, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.

The Rare Disease Day 2016 theme ‘Patient Voice’ recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.

Patients and patient advocates use their voice to bring about change that:

Ensures that politicians continuously and increasingly acknowledge rare diseases as a public health policy priority at both national and international levels.
Increases and improves rare disease research and orphan drug development.
Achieves equal access to quality treatment and care at local, national and European levels, as well as earlier and better diagnosis of rare diseases.
Supports the development and implementation of national plans and policies for rare diseases in a number of countries.
Helps to reduce isolation sometimes felt by people living with a rare disease and their families.
Rare Disease Day amplifies the voice of rare disease patients so that it is heard all over the world.

The patient voice:

Is stronger when patients receive training so that patient advocates are equipped with the skills and information that they need to be able to represent the patient voice at the local, national and international level, within and on behalf of their patient organisations.
Is vital because rare disease patients are experts in their disease. In situations when there is often a lack of medical expertise or disease knowledge because a disease is so rare, patients develop expertise on treatment and care options. With this expertise, the voice of a rare disease patient is often more inherent to the decision-making process regarding their treatment or care options.
Is increasingly present and respected in the medicines regulatory process, during which patients bring real-life perspective to the discussion. This voice needs to be encouraged to become stronger all along the life cycle of the R&D process, from the early stages of development of a medicine, right through to when the medicine is in use in a wider population of patients. This will help to ensure that medicines are developed more efficiently and in turn will result in patients accessing more, better and cheaper treatments at an earlier stage.
EURORDIS, whose mission is to be the voice of an estimated 30 million people living with a rare disease in Europe, supports patients to make their voice stronger through various initiatives and activities, including:

The EURORDIS Access Campaign, which invites anybody living with a rare disease to voice the difficulties they experience accessing treatment or care through a questionnaire.
The facilitation of the participation of patient advocates in numerous scientific committees and working parties at the European Medicines Agency and beyond.
The EURORDIS ExPRESS Summer School, aimed at empowering patient representatives through training in the areas of clinical research, regulatory affairs and health-technology assessment.
The EURORDIS Patient Voices Programme, created to collect patient opinions on transversal topics and include them in the policy and decision-making process and other regular consultations with patients.
Rare Diseases International, the global voice for rare disease patients.
RareConnect, the online network of rare disease communities that provides a forum for people living with or affected by rare diseases to voice their experiences and meet others living with the same rare disease.