This time five years ago I was sitting on a hospital ward with Graham waiting to hear news of Star who was in the operating theatre.
This was the beginning of the end of an
Three more trips to A&E and eventually they listened to me and did a scan. She was admitted immediately. One of the discs at the top her spine had twisted out of place. She was give a bed and some muscle relaxants, when they didn’t work we were told they were trying to find a traction bed. We were allowed home for the weekend with Star in a neck collar. When we arrived back on Monday morning the traction bed had been found and it looked like some kind of Victorian torture contraption. Thankfully they decided against using it and Star was sent home again.
Sadly, it didn’t stop there though because they started small and worked their way up with treatments. Physio made her worse, medication made her worse and eventually she was taken to theatre for a manipulation to put the bones back into place. She came out of theatre in a halo, which is not as nice as it sounds. A metal ring is screwed into the skull and it has four long poles which are attached to a plastic vest. It cannot be removed unless by a surgeon.
It was horrific, but after a few months we were quite used to it. My little Star was just eight years old at the time.
She even had to wear it in bed.
It Didn’t Work
As soon as the halo was removed in march 2014, it was obvious that it hadn’t worked. Star’s neck flopped back into it’s former abnormal position and she was back wearing a collar. We were so down about it, but Star took everything in her stride.
Then we heard that she would have to be fixed with screws and titanium plates, it was the only option. This involved two operations, the first was on 9th June 2014 where they manipulated her again and replaced the halo. Then two days later they took her for her plates and pins. The bone had deteriorated so much they had to do a bone transplant from her skull. The operations took hours and all we could was wait and pray that she would be okay. While staying in hospital we had been witnesses to two child deaths on the ward. It really is a horrible situation to be in and I wouldn’t wish it on anyone.
Star was back on the ward at 7pm, half her head shaved and the halo in place for another three months.
A Life Time Ago
In one sense it feels like it was a life time ago, so much has happened since then and my little girl has grown into a young woman of almost fourteen years. In another sense I can remember everything about that time like it happened yesterday. It is difficult to even begin to imagine the emotions you go through while waiting for your child to be returned. And the hospital was like a second home, we didn’t go to outpatients for appointments, we just went straight to the ward. We knew everyone, and everyone knew Star.
Now my girl barely remembers it all now, well apart from the nice thing like the toy room on the ward. She remembers her home tutor that she had for a whole year while recovering, and not having to go to school. Surprisingly has forgotten about the halo she wore twice. She even forgot about her scars, well she can’t see the one on the back of her neck or head. She has noticed the ones on her forehead but they are disappearing well.
The Future for Star
During all this time it was discovered that Star had a connective tissue disorder and she was eventually diagnosed with Elhers Danlos Syndrome. Since then she has been seen by a geneticist who believes she may have a different connective tissue disorder and is convinced she has Marfan Syndrome. There are more tests to be done because the test for Marfan Syndrome involves the febrillin gene and Star doesn’t have that. But, there are 3000 different mutations of the gene so her DNA is being tested again. She is also having her chromosomes tested as the geneticist thinks there may be a connection between her physical disabilities and her autism.
In the meantime, Star is working hard at school and will be doing her GCSE’s next year. She gets a lot of help and support and the school, although mainstream, are very understanding. I do have hopes that her future will be fine so long as she gets the extra help after leaving school.
I worry so much about my children, especially now that I am sick. While Star was ill I was running around like crazy, taking the other two to school and nursery and the older kids to college. Taking Star to her appointments at the hospital, or even taking it in turns to stay with her overnight. I was fit and able to deal with getting up several times every night. I managed that, but if any of my children needed me like that now I would not be as much help.
It’s hard to imagine how different life was five years ago, but that day changed everything and most probably saved my daughter’s life.
At the top of my page you may notice a tab called My Little Zebra, if you click it you will be taken to a new blog all about my little girl who has Elhers Danlos Syndrome.
As it is EDS awareness month I’m going to share her story here, only a little more condensed.
Starting at the beginning she was born normally, a little early but everything was ok apart from a little panic just before the birth when they thought I might need a C-Section. She was fine, a great weight and looking healthy.
She was a cry baby though, and would scream and scream all the time. The only thing that settled her was lying her on her back and ‘cycling’ her knees. This is a relief for colic which we thought she was suffering from. As she got a little older she was always complaining of her knees hurting and although she met all her milestones and was walking by the time she was one year old, she didn’t like walking much and complained it hurt.
When she was three years old we took her to the hospital because we were worried about the pain she was complaining about when walking. x-rays and tests showed nothing but it was noticed that she had hypermobile knees and ankles. I looked it up and it said that it just meant she was double jointed. So we all battled on.
At six the hypermobility seemed to be getting worse and she was seeing a physio therapist to help her.
At seven she had her first subluxation, in her neck! Of course we didn’t know it was a subluxation back then, neither did the hospital. They tried first with muscle relaxants to treat her, then a collar. When that didn’t work she was given a manipulation followed by a halo. Halo sounds nice doesn’t it, kind of angelic. They are not. Details are here if you wish to know more. In the meantime, here is a photo of my angel in her halo.
A few months later the halo was removed and we were horrified to find that the subluxation returned, immediately. The next step was a fixation and she was taken back to surgery while they fixed her cervical spine with a bone graft and screws. Then they returned the halo!
This worked and her neck was fixed but with only 50 % of it’s mobility. The consultant said her ligaments were particularly stretchy which is why they wouldn’t hold the bones in the place. He never accepted that the subluxation had happened without a trauma, but we know for a fact that it did.
This got me thinking and after a bit of research I learnt that hypermobility + subluxation+ lax ligaments could be Elhers Danlos Syndrome. So I asked for a referral to a rheumatologist who confirmed my suspicions but wished us to see a geneticist too.
You can read what happened at the geneticist here, but in brief, she does believe that she has EDS but possibly not hypermobility type like we suspected. Now she is waiting on further tests to find out if she has another type of EDS and/or Marfan Syndrome.
In the meantime my girl is doing fine, her scars are healing and apart from a couple of subluxations in her ankles she is carrying on like a normal (ish) ten year old.
EDS is a rare condition and even doctors are not totally aware of it. This is why awareness is so important. It comes in many forms and some of them can be life threatening so diagnosis is especially vital. This month is EDS awareness month and the EDS support group are creating a thunderclap on social media set for 20th May. This means that thousands of people all over the internet will get a message about EDS and it will help to raise awareness. To join the thunderclap please click on the badge below. It takes just a moment and will post just one message to the social platform of your choice.
If you would like to learn more about Elhers Danlos Syndrome then please visit the Elhers Danlos Syndrome website. Or ask me, I’d be willing to help with any questions and point you in the right direction for help if you have concerns yourself.
This week I had to take the Little Man to see an orthoptist and an optometrist at the paediatric eye clinic. He’d been given an eye test at school and it had shown that he was weak in one eye, so he was sent to the clinic.
They gave him another eye test and again it showed him weak in one eye…but the other eye! After all the tests were done it was shown that he didn’t have a problem but there might be one starting, so they are going to monitor him for a while, with a further appointment in 3 months time.
I’m not sure what’s going on with my Little Man, first it’s hearing tests, then eye tests. Is he being mischievous or is there a problem? My concern with his eyes is that he could have Elhers Danlos Syndrome like Star. We already know he has hyper mobile joints, in fact he and Boo are both more bendy than Star and score higher on the beighton chart. They both have experienced joint pain at times too, but the difference with Star is that she has had joint pain since birth. Elhers Danlos Syndrome affects the connective tissues by the over production of collagen, and the eyes are 80% collagen. Another similarity is that both Star and the Little Man suffer from photophobia, which is not a fear of photos (which is how I feel when I see one of myself) but a sensitivity to bright lights or sunlight.
Star was referred to a geneticist because of her problems and although it was agreed that she does have Elhers Danlos Syndrome, it was concluded that it may not be type 3, which is what we originally suspected. There are several types of EDS but she doesn’t fit neatly into any of them yet, that doesn’t mean that other symptoms could arise later. It’s worrying but it’s also good that she is being looked after properly now.
So, Star is also being sent to have her eyes checked out at the hospital. Apart from the photophobia she doesn’t really seem to have a problem with her eyes,apart from an other sign of EDS, blue sclera which means the whites of her eyes are actually blue. When the appointment came through for her at the hospital it was the week she is supposed to be doing her SATS at school so I managed to re-arrange the appointment for the week after.
Finally, just so that Boo gets a look in on this post, she got shampoo in her eye during her shower this evening and screamed so loud it’s a wonder the neighbours didn’t call the police!
This weeks word of the week just has to be eyes!
|The Little Man posing at the clinic after the eye drops which made his pupils enlarge.|
Way back to when I was a little girl I can remember pain. I would wake in the night and cry, waking up my parents. The pain would be in my legs, my knees or my ankles. Occasionally it would be in my neck or shoulders. I know that mom had taken me to see the Doctor because she always said that she’d been told it was growing pain. Then later, it was cramp. I think at times she thought I was just attention seeking, especially after my baby brother was born. Then my Dad passed away. I decided not to complain so much, mom had other things to worry about. I did lose a lot of time from school though, I didn’t always say it was pain in my legs, sometimes it was tummy ache or headache.
If you look at my links above you will see one saying My Little Zebra. This takes you to my blog written especially for Star, a medical zebra.
“When you hear hoof beats, think horses not zebras”
This is what medical students are taught, to look for the obvious.
Star has been diagnosed with Hypermobility Syndrome Type III which is very similar to Ehlers Danlos Syndrome. I am chasing a diagnosis of EDS for her because I believe that is what she has. We were told by a surgeon after an operation that her connective tissues were too stretchy which is why they would not hold her discs in her spine together. This combined with the Hypermobility, her pain and the subluxations (as well as many other symptoms) she has do signify that she has EDS.
Had she had the diagnosis earlier her treatment for her subluxation may have been different. Everything they tried for the first six months did not work, simply because of her connective tissues. This is the problem faced by many with rare conditions and that is why I’m writing this in aid of World Rare Disease Day.
This is the official video for Rare Disease Day, please take a minute to watch.
Today is the day to put rare diseases in the spotlight.