marfan syndrome

Star, Five Years Ago

June 11, 2019 by Anne Sweet 6 Comments

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 eighteen month journey which started when Star woke up one morning with a wonky neck. We took her to the GP who told us she had tonsillitis. I knew he was wrong though, so I took her to A&E. They said she had a torticollis and would be fine in 48 hours. She wasn’t, she got worse. Sometimes as a parent you have to tune into your instincts, even when the Dr’s turn you away, you have to persist if you feel something is wrong.

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.

The Long and ‘Tall’ of it, Marfan Syndrome

April 21, 2019 by Anne Sweet 10 Comments

We had a visit to the geneticist last week. It had been 18 months since Star had screamed the place down while they took her blood for testing. Thankfully long enough for Star not to be too anxious about her last visit.

We had a letter some six months after her last visit saying that her test results were clear. So today’s visit was just a follow up, a chance to chat with the Dr about the results and what would happen next.

It started well. Yes, the results were clear and the dr just wanted to ask some questions. Star was quite responsive, she told her she’d got a 7 in her English test when she was only expecting a 5. She hadn’t told me that, even though I always ask her about school.

Then she went in for her examination, height, weight, arm span, hypermobility tests. Nothing she hadn’t done before. Although she’d grown quite a lot in the last 18 months. The Dr took photographs of her hands, feet, spine and face for her records. I liked that she was being thorough, happy in the knowledge that she had nothing seriously wrong with her.

Then came the bombshell.

We went back to the other room to talk again. Star was becoming irritable by now and not so chatty. Well, unless asking ‘are we done yet’ every two minutes counts.

So, the tests showed that the febrillin gene was not mutated, but, there are 3000 different mutations of the gene and not all the tests were done. So, the Dr wanted my permission to test her genes again. Star became agitated until it was explained that no further blood needed to be taken.

As well as gene mutations, the Dr wanted to check for chromosomes. I’m no doctor so I don’t know the ins and outs, but basically she told me that she believed that Star had Marfan Syndrome and not Elhers Danlos Syndrome which is what she is diagnosed with.

Star has a lot of the skeletal signs of Marfan Syndrome and may have family history as both myself and her older sister have skeletal signs too. This could be enough for diagnosis even without the gene mutation.

The Future

Stars future can still be okay, people can live with Marfan Syndrome all their life and not even know it. But, it can have implications, especially with the eyes and the aorta. It is also something that may not start to cause problems until the teens, and Star is just thirteen.

The next steps will be more testing and extra care for Star. She will be having regular heart and eye examinations to detect any problems quickly. She will have her genes tested again to see if anything else shows up. There is also the possibility of the rest of the family being tested too to find any links.

My poor girl has already been through so much; she’s had pain since she was born, she had to endure the subluxation of her neck and several trips to theatre, twice she has had to wear a halo brace, she has many subluxations and dislocations due to her connective tissue disorder and just to top it off she has autism too.

She laughs a lot though, and loves going to school where she connects with other children like her. When she was told she was going to have another ECG she instantly reported that her school friend had to have them every year too. She doesn’t feel different, she doesn’t mind. And when she’s in pain she rarely complains. She really is a Star.

Elhers Danlos Syndrome Awareness Month.

May 5, 2016 by Anne Sweet 12 Comments

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.

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