2020 - What a year!

Hi Everyone,

I hope you are all well and pain free? 

What a year 2020 has been. Who would of thought this pandemic would be our new reality. On January 1st we all celebrated and were so excited to be heading into a positive new decade. That sadly did not last long.

This year has been incredibly sad for my family, as our beautiful Mum died in September. She had Alzheimer's and was in a rest home with 24 care. Sadly, a resident pushed her over and she broke her hip. She made it through a entire hip replacement, but then developed a blood clot and died of a stroke on the 29th September in New Zealand. We were devastated and it also meant that I could not be with my gorgeous big sister, as we are thousands of miles apart and we are now grieving without each other. Thank heavens for Whatsapp video chats, just seeing her and crying together has really helped so much.

It has been another 2 years since my last post and this was because I still have not had any definite results from my skin biopsy. The gene (COL1A1) which would definitely indicate that I had Classical EDS has never been located, but nor has any other gene to determine what type of EDS I have. To be honest, this never really crosses my mind anymore and I am no longer waiting for the label I always felt I needed. I received a call a while back from my genetic counselling service who said that they feel there is a lot of evidence that I still do have Classical EDS, but without locating the gene, they can not say that I have it. And that was that. No more skin biopsy's, no more waiting and no more wondering. 

I have become part of a new medical study in 2019. An article has been written about patients with Classical EDS who have also developed vascular complications. So my medical history, along with 7 other unidentified patients, will now start a new dialogue in the medical realm, that perhaps Classical EDS has other strings to it's bow after all. 

My Mum always said that EDS made me a little bit different from others, because it made me more special. As I grew older, I did not always agree her, especially with all my scars. But now I do believe that EDS have given me a very big gift. It has always made me realise how lucky I am to be healthy. It has made me realise that life is such a special gift and not to take anything for granted. And it has made me realise that 'different' and 'special' is a great way to be. I will always be so grateful that my Mum instilled these beliefs in me.

Until next time, be safe, happy and grateful for the things you do have in your life today.

Love from Rowena XXXXXXXXX

Happy New Year 2018

Happy New Year to you all!

I hope 2018 brings you good health, no pain and happiness.

It has been so long since I have written in this blog and the reason is because I am still waiting for my skin biopsy results. The results with my biopsy is that the gene encoding (COL1A1) can not be found. So my diagnosis in New Zealand way back in the early 1970's is being disputed. I have 9 out of the 9 characteristics of Classical EDS (Type 1) but that gene code is not willing to show itself for it to be 100% diagnosed. My wait continues.

Now here is my exciting news. My aortic root is still holding strong and it has been 7 years now. My next check up in November this year and I will have MRI scan this time (I am use to these). My cardiologist just wants to get accurate measurements. I have been really happy with my heart care at St Georges Hospital and have felt really well looked after.

It has been 5 years now since we moved to London and my son is now in his 2nd year of Uni. He has grown from a teenager to a gorgeous, healthy and strong man. I am trusting my heart and joints so much more and have asked my cardiologist if I can exercise more now. They have said I could, as long as I am only giving 80% of my top effort, so my aortic root is not working too hard.

So for 2018 my New Years resolution is to be as healthy as I can. I want to lose the 20kgs (44 pounds) I have gained over the last 7 years, as I was too scared to exercise too much. I want to gain back to muscle I have lost, which will in turn strengthen my joints.

What are your New Year resolutions?

Love Rosie XXXX

Skin Biopsy

Hello Everyone,

I hope you are all well and pain free. It has been such a long time since I blogged. I have been busy being a Mum, a full time teacher, travelling (so blessed), visiting my family in New Zealand (even more blessed) and living life in one of the biggest cities in the world. I just wanted to fill you in on the skin biopsy that I had a while back. Well it boarded a plane and made it to the European trials.  My gorgeous genetic consultant, Dr Kate Tatton Brown, called a few weeks back and said it looks like Classical EDS is the strongest genes showing up. My heart felt lighter and I am off to meet the EDS Service in the London Clinic, when the next available appointment shows up. I will let you know what they say.

Even with my heart feeling lighter from my news, sadly, I have reached an age that people around me have very scary, life threatening diseases. My dear Dad is in the final stages of Cancer, my dear Mum has Dementia and one of my best friends has a friend who has just had an operations for breast cancer on Friday. It made me realise that you have to just live each day and be so grateful for every minute.

Recently I have been thinking, living each day isn't enough anymore. Crossing your fingers and waiting for what ever is coming your way is not living, it is waiting. So I have been looking into health (body and mind) and I now know that eating well, exercising (however much you can) and thinking positive, grateful thoughts are going to make a huge difference to anyone. But especially for people with EDS, because we already know what it means to try, even on the hardest days. No matter what EDS types we have, we are all connected in an unseen way. I just wanted to share this today for food for thought.

Love Rowena XXXXXXXXXX

Waiting but not worried this time!

Hi Everyone,

I hope you are well and pain free!

It has been such a long time since I have written on my blog. Actually October was the last time.

Well I had my gene test a while ago and my result was........ nothing! Not a single gene could be isolated. On September 18th I am going back to my genetic counsellor to discuss where to go from here.

I am not worried which is so new for me (I used to be such a worry-wart) and I am just carrying on as always - happy and loving my new adventures in London.

Perhaps I will actually have a skin biopsy this time to try and isolate 'something'. My boy is often frustrated that I continue go back to find out 100% what my 'label' is. What he doesn't understand at 17, that I understand at 42, is I want to live a long life and knowing what I have to deal with is 'knowledge' and as we all know, 'knowledge is power'!!!! It means I can then get the best medical support and I can live the long happy life that I deserve, just like everyone does.

Keep well, Love Rowena XXXXXXXX

Alternative Relief

Hi Everyone,

I hope you are all well and pain free.

I am beginning to experience some pain in my hands near my thumb joints and in one of my shoulders. My thumbs are popping out and it feels like my shoulder is giving it a good try too. I have not been exercising like I use to, due to my enlarged aortic root and my body knows it and feels it.

So here is my big question that I putting out into the universe - what is going to help my joints???
* swimming
* Pilates
* Tai chi
* acupuncture
* reflecology
* massage

As you can see, there is not one mention of pills. I am not choosing to dull the pain and I am not choosing to mask it. The pain I am feeling reminds me every day that I am still alive; that I get to wake up to be the best Mum to my son; that I get to wake up to be the best teacher to my gorgeous 4 and 5 year olds at school; that I get to wake up to be the best daughter, sister, auntie and friend; that I get to wake up to be the best ME I can be every day.

I would really love to hear if you have tried any of the above alternatives to medicine.

Take care of yourself

Love Rowena XXXXXXXX

Fingers Crossed!

Hi Everyone,

I hope this new post finds you pain free and happy.

Well Tris and I went to St Helier Hospital today to have our new gene test. I know I have posted before and said that we had our 'last gene test' but sadly it wasn't the case. My genetic cousellor in New Zealand retired last year and Dr Juliet Taylor, who took over his clinic, said that new research is happening all the time with EDS and that there are new genetic conditions being discovered. She emailed me after we arrived in London and suggested that we should have another genetic test to be absolutely sure that we only have Classical EDS and nothing else.

So we arrived at the clinic today and meet a lovely doctor called Dr Katrina Tatton Brown. She welcomed us and began to talk and straight away I interrupted her (which I apologised for). I said that under no circumstance was she to tell us what we were being tested for. I did not want to know and I did not want to go home and google it until my eyes bled. She was amazing about it and totally understood.

I am so pleased I didn't ask what the 'THING' was and she was very cool about not saying. Our results will come back in 6 - 8 months due to the fact that they need to search for 3 separate genes in our DNA. I told her that we had to know definitely what we have this time, not what we don't have and she said she these test will find out. 

So there you go and I am determined not to be a slave to 'worry' for the next 6 - 8 months either. Last time that I waited for our results was a nightmare for me. This time around, by not allowing her to tell me the name of the genetic condition, I felt like I had the POWER, in an environment where I have always felt powerless. 

With the help of Louise Hay, I am putting it out to the universe that my son and I only have Classical EDS and that we are healthy and happy and having amazing lives living in London.

Fingers crossed can't hurt either!!!!!

Love Rowena XXXXXXXX

6 Months on!!!!

Hi Everyone,

I hope this email finds you well and pain free.

It is 6 months on and what a fantastic place to live!!!! We made it through winter and now it is a very warm summer. I can not believe the time has gone by so quickly. My son is so happy and so am I, we are so pleased that we made the move.

We are having to have another gene test. My genetic counsellor from NZ has asked Tris and I to have one more gene test, as there is apparently another genetic condition that is similar to EDS. Apparently my facial features do not match classical EDS, even though my atrophic scars, velvety hyper-extensibility skin, flat feet, molluscoid pseudotumors, joint hyper-mobility, muscle hypotonia and I had delayed gross motor development, do.

So on the 15th August, Tristan and I are off to St Georges Hopsital in London to visit the genetic services there. I am actually looking forward to meeting new genetic practioners who have perhaps had more people with classical EDS and able to take a really good look at us. It will also mean that I will be able to book in my yearly MRI about my enlarged aortic root and have a medical base here for Tris and I in London. I am going to get them to look at my left hand as well, as my lower carpometacarpal joint keeps popping out of place and pushing back it in feels so gross..

I will let you all know how we get on.

Love Rowena XXXXXXXXXXXX

P.S: Why don't I suffer from fatigue like the other people who have EDS on YOUTUBE do???? I have never experienced this. This is a mystery to me.