Show Your Rare – Make Them Listen

Today is Rare Disease Day. I’ve written lots on my rare condition and also Star’s condition, but today I wanted to write about getting help when you are rare.

Star

Way back in 2013, Star woke up one day with a wonky neck. I took her to the GP who said to take her to A&E. We were told she had torticollis and that it would get better itself. It didn’t and we were back in A&E three more times before they scanned her and discovered a rotary subluxation of a disc in her neck. She was admitted.

A week later she was sent home again after having nothing but pain relief and muscle relaxants. She was given physio therapy but the therapist stopped treating her as she was sure she was getting worse not better.

I’ll cut a long story short, over the next eighteen months I had to fight to get the treatment my daughter needed to fix her neck. Each step was slow and, for her, painful. It seemed that none of her doctors where listening to me. She was finally diagnosed with a rare condition called Elhers Danlos Syndrome.

Her condition means that her ligaments are lax and she is prone to subluxations. Her bones can slip out of place and back again, causing a lasting pain. She has also dislocated her ankle a couple of times and dislocated her wrist. It was also, most likely, the cause of the subluxation in her neck. Which is why none of the treatments worked until she was permanently fixed with plates and screws.

She has many more issues and even now, with a diagnosis, we still have to keep on at doctors until they listen. Her condition is rare and it makes it more difficult for doctors to treat her with traditional methods.

Me

I had problems for a few years before I was really sick, but no doctor could work out what was wrong with me. My mental health was questioned on more than one occasion.

Then I became so sick I was paralysed and admitted to hospital. Again, no doctor really knew what was wrong with me. I was in a teaching hospital and each day students came in to question and examine me. They were clueless too. I did get a diagnosis of Transverse Myelitis, but I knew that my doctor was not absolutely sure of that.

A year later, I had learned to walk again (in a fashion..I know how to put one foot in front of the other, but balance and gait are something I’ve never mastered.) After more tests I was given the diagnosis of Stiff Person Syndrome. Again, a diagnosis does not mean that treatment is available, or that doctors understand my condition.

Each time I go to hospital it’s always the same, they don’t know how to treat me. So long as my blood pressure, temperature and heart rate are okay, they send me home and tell me it’s just part of my condition. I tend to not bother going to hospital now if I feel really ill, what’s the point?

Make Them Listen

Days like Rare Disease Day, and Charities like RareDisease.org help raise awareness. Without this then future generations will also go on not knowing anything about these rare diseases.

Why?

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Rare Disease Day


Disease or Condition?

  • disease is a pathophysiological response to internal or external factors.
  • disorder is a disruption to regular bodily structure and function.
  • syndrome is a collection of signs and symptoms associated with a specific health-related cause.
  • condition is an abnormal state of health that interferes with normal or regular feelings of wellbeing.

As you can see from the chart above, even though you can give a different description to disease, disorder, syndrome and condition you can also see that they are all similar. Each one causes the patients body to react in a way that a normal healthy person doesn’t.

Both my daughter and I have syndromes, but we also have an abnormal state of health (condition,) a disruption to regular bodily structure and function (disorder) and our symptoms where caused by a response to internal or external factors (disease.)

Never Give Up

If I leave you with one thing it has to be never give up. There are so many rare diseases out there and the doctors really don’t know about all of them. There is a saying amongst the medical profession,

If you hear hoofbeats look for horses not zebras

This means that doctors are looking for the obvious not the rare.

This is why many people with a rare disease/condition/syndrome/disorder call themselves medical zebras.

Awareness is needed so that the Doctors will recognise those zebras!

zebra

10 Facts about Stiff Person Syndrome

Rare Disease Day 2018

The Day My Diagnosis Changed (Stiff Person Syndrome)

When it’s Not All Black and White (Elhers Danlos Syndrome)

My Angel (Star’s first Halo)

An Update on Star (Star’s Surgery)

X-rays and Broken Bones

Me

I’ve only ever broken one bone, my nose. Can that be counted as a broken bone even, isn’t it just cartilage? When I was about six years old I was leaning over my Nan’s fence at the top of her steep front garden. I think I’d spotted a bug or something just below and was taking a closer look. Next thing I knew, I was lying face down half way down the garden with my nose crushed firmly against a large stone, possibly even a brick.

Everyone said I’d fallen, just leaned to far and went over the fence. My memory may be foggy from so long ago, but I knew I was pushed, and I knew who pushed me. But I’ve never told, and I’m not likely to now. Who cares anymore. 

I broke my nose and had two lovely black eyes!

Star!

Star is not my daughter’s real name. I gave it to her because that’s what she is. For 18 months starting from just before her 7th birthday, she had to undergo countless scans, hospital appointments and operations.  She did it all with a smile (well mostly) and that’s why she’s my Star.

She has a condition called Elhers Danlos Syndrome but back then she hadn’t been diagnosed and we didn’t know what was wrong. EDS is a connective tissue disorder and it caused Star to have a craniocervical instability. This meant that her neck became unstable and she was unable to keep it upright. It also caused one of the bones in her cervical spine to chip and break.

My little girl had to have many scans and visited the operating theatre five times in total. She had to wear a halo brace twice. This is a contraption which holds the neck straight in alignment while it heals, it is a metal crown which is screwed into the skull and attached to a plastic body. She wore it for three months each time. She surely is a star just for enduring that. People actually thought we were able to take this off at night! Bathing her was fun as we were unable to get the vest wet so I used to wrap her up in black bags. 

Star in her halo when it was first fitted in hospital.
Star in her halo.

It seems like such a long time ago now, although she still bares the scars.

This is my post for today’s Blogtober prompt, Xrays and Broken Bones.

#Blogtober18

Zebra Child of a Zebra Mum

I have to admit, my daughter, Star, has been a zebra longer than me. A medical zebra I mean, someone who suffers from a rare condition.

The problem with rare conditions is that Doctors tend to look past them and blame something else. They are looking for horses, not zebras. Star’s problems started when she was young and she would suffer pain in her knees. We had her checked out and they said she was hypermobile and would grow out of it. Hypermobile generally means bendy, or double jointed. There are certain stretchy tests that can be done to diagnose it, but it’s not rare, it’s very common.

Star’s neck

It wasn’t until Star woke up one day with a wonky head that we started to get closer to the real reason for her pain. But even then, after a trip to A&E we were told she would just get better in a couple of days. Again, they were looking for horses. A couple of weeks later and several visits to A&E I finally got them to take me seriously when I told them she’d had an accident and fallen off her scooter. I lied and I’m not proud, but this simple lie opened up so many other doors to her that had otherwise been shut. For starters they gave her a scan. They had refused to do this before because you don’t get serious neck damage without a prior accident.

The scan showed that her discs at the top of her spine had dislocated and she was admitted to hospital. This was not going to right itself. In fact it took 18 months and five trips to theatre to put it right.

little girl in hospital with a medical halo

This was four years ago now and Star still has limited movement in her neck, and it’s still very slightly wonky. Eventually, I made the consultant believe me when I said that she hadn’t had an accident and this had happened by itself. He sent her to see a rheumatologist who suggested she had a connective tissue disorder, Elher’s Danlos Syndrome. This fitted in with her history of pain, her joints had been constantly subluxing, or moving out of place. Since then she has dislocated both her ankles and her wrist. She still gets knee pain and can’t walk far without being in pain.

We are currently under a geneticist who is trying to determine which type of Elhers Danlos Syndrome she has. She still doesn’t fit in neatly. She doesn’t quite have the flexibility of type I, and she doesn’t have definite features of many of the other’s. It was considered that she may have Marfan’s Syndrome as her limbs and digits are unusually long. She was even tested for Loey Dietz syndrome but that came back negative. At present she is having regular check ups with her consultant and also regular checks on her heart and eyes as these can be affected. We are hoping that maybe one day we’ll have a definite diagnosis, but for now we are just happy that we are finally being taken seriously with her health and she is getting the check-ups that she needs.

Rare Disease Day 2018

February 28th is Rare Disease Day, an international event where those with rare conditions are shouting out so that Doctors will realise that we don’t all fit in the same mould. As well as education, more research needs to be done to help people get the treatment they require. Many people with rare conditions can go undiagnosed or improperly diagnosed for many years. There is still so much to learn and that can only be done when we stop looking for horses and accept that sometimes there are zebras too.

You can read my story here.

Schoolday Trials and Tribulations Part Two – Mainstream Fail

Star is the third eldest of my children and already she has made it through mainstream school the longest. I do wonder though if it will last as we have worries on a weekly basis.

I cannot fault her school, they do so much to help her and never expect too much from her. Only last week they moved her into a different form room because the one she was in was a little too noisy for her. She has teachers she can go to when she’s not coping and rooms to go to when the classroom is too much for her. There are even places she can go to the bathroom away from the rest of the school children. The teachers understand her needs and she misses certain p.e. classes if necessary.

Special Needs

autism, spelt out in blocks

Star has Autism and  Elhers Danlos Syndrome, she also has had major operations and her cervical spine is held together by screws and titanium plates. Star has many extra needs compared to the average twelve year old, but the school helps the best they can. She gets stressed out by noise and crowds, sometimes she cannot handle the dining room and is allowed to sit somewhere quieter to eat. She gets excited about school events, then stressed out when they happen because they are a change of routine.

She has joints that sublux easy which means certain physical activities can cause her pain. And because of her spinal injury she’s not allowed to take part in any contact sport. She gets frequent headaches and has stomach problems which means she often needs medical intervention which the school gives on my permission.

School Trips

Last year her class went on a residential trip. The place they went to was only around 80 miles away from home and Star really wanted to go. But, we had so many issues with both her health and her maturity at being able to cope. The school talked to us extensively about the trip but in the end we decided not to let her go. The school then offered to take her there and bring her home each day so she wouldn’t miss out on the daytime activities but did not have to deal with the overnight ones. It went so well we decided that she could stay the final night.  That didn’t go so well so we know we made the right decision about not letting her stay the whole week. But we are so grateful to the school for being so understanding.

This year the trip is to France for three days and Star really, really wants to go. So much so that she made us pay the deposit straight away. She is a little more mature this year but we still have some issues to work through. The trip is not until June so hopefully we can get those issues sorted, her nurse says it’s possible so we are staying positive. It’s just three days but she won’t be able to come home if she changes her mind. We are going to have many more conversations with the school and with Star before this happens but I really hope that she does get to go, it will be an amazing opportunity for her.

Attendance

So, it’s sounding good isn’t it. The school is great and Star is relatively happy, most days she comes home smiling. She loves her new class and new form tutor, she feels understood.

However, there is a downside to having a disabled child in a mainstream school that cannot be made better. That’s the expectations of attendance. Your child cannot have poor attendance, it looks bad for the school as they have to ensure that your child is attending regularly and achieving their potential.

Star gets sick a lot, she can’t help it, she has medical issues that make her ill. She has subluxations of her joints which mostly heal quickly by themselves but sometimes result in fractures which need further healing. Most the time all that is needed is a tubigrip bandage, but if fractured then she may need a splint or plaster. This means time off for hospital visits.

Star also has stomach issues which cause sickness on a regular basis. She can’t help it but it means she can’t go into school.

Star also suffers migraines. We are not sure why but they could be related to her neck problem. When I say migraine I mean the type where she cannot hold her head up and the pain makes her sick. But she also suffers really bad headaches.

She gets sent home from school a lot because she is not well, but they expect her back in the next day anyway. Her attendance is low, it’s less than the required 96% minimum that the school strive for. The school are on to us all the time if she is off sick, they make us feel like it’s our fault. It’s not down to our parenting, we have two other children at the same school with 100% attendance for the last half term and only slightly less for the term before (Thanks to chicken pox.)

Last week she was particularly poorly. She was poorly all weekend and no better by Monday so we didn’t send her to school. She was still not well on Tuesday but the school had called us a few times and we decided to send her in on Wednesday in the hope that she would ‘perk up.’ The notion is that if you feel a little unwell then you just get on with things and you’ll feel better than moping around. It works for some, but not for Star. She looked awful when she came home. She didn’t want to go back on Thursday but I sent her in because her attendance was so poor. They sent her home before the end of day.

I understand that education is important in mainstream school.

I understand that attendance is vital for good results from school.

I understand that mainstream schools are under pressure for ensuring good attendance.

I just wish there was more understanding for children with complex medical conditions that find attending school unless well really distressing, and will often get worse not better.

Mainstream Failure

Star has told me that the time spent in school last week was spent with her form teacher and mostly sitting in the back of a lower year’s class lessons. Because she wasn’t well and unable to cope with school. So, even though they got their tick on the register of a child attending school, that child was not actually receiving an appropriate education. This just doesn’t seem right to me.

There is no other school suitable for Star, she’s not ‘disabled enough’ to go to a special school, she has no learning difficulties or permanent physical disability.  She would not be accepted, she does not even have an EHCP.

It’s situation that a lot of parents like me find themselves. I consider myself one of the lucky ones because Star’s school is really good for her, but because it’s mainstream they have to comply with the governments standards for attendance. Star will never have adequate attendance because of her conditions. If I send her in unwell, then the school has the extra responsibility of looking after her and she’s still not getting her education. The situation seems ridiculous.

Expectations

A clever child with autism can achieve well in the appropriate educational environment. A parent can have big expectations as their child gets good grades and goes on to college and university. But even this is no guarantee that they will do well in a work situation, or even be able to cope with work. I’ve seen it first hand and it seems such a waste to see that person seemingly wasting their lives away sitting at home all day.

Is it worth it?

I sometimes wonder if it is, but as a parent I will strive to make Star achieves the best she can. I will trust her school to provide her with an education and I will do my best to make sure she is there as often as possible.

 

Is it all worth it, chalked on a school green board surrounded by lots of school items like pens, books, paintbrushes, calculator

 

 

One in a Million (Or Maybe Two!)

When I was born I was a bit of a late addition, my brothers were already in their teens. Not only was an extra surprise, I was a girl and my Mum and Dad were thrilled. So were my brothers (I think!)

You could say they thought I was one in a million!

My life went on and I got married and had two lovely children. I always wanted more but it wasn’t to be and I spent a lot of my life as a single mum.

When I was much older I met my current husband and we agreed to try for a baby together. My other children were already teenagers and I was getting on a bit so we didn’t know if it would happen but we were willing to try.

We tried for over two years, then I had a very difficult pregnancy where we thought we were going to lose our baby a few times. But she came into the world just a couple of weeks early and we were overjoyed. She was one in a million, our little miracle baby.

Having Star kick started my fertility and she was soon joined by two more siblings.

When Star was very young we knew that something wasn’t right, she seemed to be in pain a lot with her joints, especially her knees. We had her checked over and it turned out she had hyper mobility problems which was the cause of her pain. When she was older she woke one morning with a twisted neck and it turned into a major problem which took 18 months and five trips to the operating theatre to fix. It turned out that she has a rare condition called Elhers Danlos Syndrome which means her ligaments are very lax and she is prone to subluxations. She doesn’t actually have a definate diagnosis yet as there are many forms of EDS and the geneticist believes that she may also have another rare condition, Marfans Syndrome. We don’t know what the future holds for our little girl, but we do know that she really is one in a million and we will do what we can to make life good for her.

Last January I joined my daughter in becoming one in a million. In fact the condition I have is probably less than one in a million world wide, and I have an even rarer strain of the condition. I have Progressive Encephalomyelitis with Rigidity and Myoclonus which a form of Stiff Person Syndrome. It started suddenly and no-one has any idea why. Like Star, I have no idea what my future may hold but we carry on.

Research is so important with rare diseases. Cures and treatments can be found and those suffering can live fairly normal lives. With awareness we can avoid getting the wrong treatment. Star was treated wrong when her neck subluxed making it much worse. I have not been receiving the correct treatment for a year because my condition was misdiagnosed. A little support can go a long way, so that’s why I’m sharing our story today on Rare Disease Day 2017.

If you wish to learn more about rare diseases and how you can help spread awareness please click the poster and share what you can.

Thank you, from a mum in a million and her little Star.

RachelSwirl

A little Note About Positive Reviews on Raisie Bay

A little Note About Positive Reviews on Raisie Bay

Some people only write reviews when things go wrong with products, which is good because it lets people know that there could be potential problems. I’ve also seen negative feedback with say things like, I had to return this item because the colour did not suit me…is this useful?

I write reviews on most items I buy because I like to give genuine feedback. If I have a genuine problem with a product I will write my review in the appropriate place.

I write reviews on my blog too, but they are mostly positive. Why? Because I only write reviews for the things I’ve loved. If I don’t love them I let the person who sent me them know with details why and then let them decided if they would rather me write a negative review or not write one at all. It’s always the latter.

This is my blog, my place and I’ll let you know about the things I love. If you want to find out what other people have hated about the product then you will need to look elsewhere.

My reviews may all be positive, but they are still genuine.