Reconnecting with Creativity

Being creative is something that my life has encompassed since I was a child. I started dancing when I was three years old and kept it up for over twenty years. I did drama and singing, drama I didn’t like so much but I loved to sing. During primary school I learnt to play the piano, clarinet and saxophone, and kept the piano up in early high school.  I used to do creative writing and art.

I went to a performing arts high school and spent my days amongst a creative bunch of teenagers. I majored in dance (yes it was totally like Fame we used to bust out in the playground) but also continued art. I spent my first year out of high school doing a full time performing arts course before attending university.

Then my sight deteriorated. I stopped everything. Dancing had been my entire life; all my closest friends are from dancing. It wasn’t an immediate reaction, but I slowly gave things up and attributed it to ‘growing up’. Who says you need to stop doing things you love because you are getting older?!

Over the past months I’ve realised how being creative was something I enjoyed and shouldn’t let my lack of vision get in the way. I’ve made a conscious decision to start to ease back into the things I enjoyed and find ways to participate despite my sight. I know that it is going to be different doing these activities but I’m choosing to look at it as a challenge and as a new adventure.

My first focus is on playing the piano again. We have two pianos in my house and it’s time somebody actually played them! About two years ago I started private classes again to get back into it but it was extremely hard explaining my vision to the teacher and finding a way to learn because I couldn’t read the music. I had never learnt from ear and wasn’t sure how to start. I ended up giving up after a few months.

This time I’m determined to get my fingers working again. I have decided to learn braille music. I will admit it looks utterly daunting with all the dots everywhere. I do like to challenge myself so I am going to give it my best shot.

Another thing I’ve started is colouring. Art therapy is all the rage at the moment and I couldn’t miss out! I downloaded a colouring app (Colorfy) on my iPad and Samsung phone and it was great. You can zoom in and tap the spaces to fill in colour. Of course I wanted to do the real thing so I bought myself a mandala colouring book. I promised myself that I wouldn’t get frustrated if I couldn’t do it. I spent three hours calmly colouring in tiny spaces using only my peripheral vision. I don’t think I’ve ever sat still for that long! It was definitely calming but each stroke, as I guessed where some of the lines where or made mistakes, helped me accept a little more that my sight has deteriorated and also reinforced I can still do things if I really try. 

If you think you need to give up a hobby or passion because you are losing your sight, don’t. If you think you can’t do something because your sight will prevent you, you can. If you’ve given up something you loved due to your sight, give it another go.

Being creative is part of being human. For you it may be writing, drawing, dancing, crafts, cooking, absolutely anything. Make yourself engage in it again. 

Pick up something you did when you were a child and see how carefree you feel again. There’s no harm in trying! Apart from my braille piano project I plan to get back into the dance studio.  I know this is going to be a huge challenge but determination will always prevail.  Never give up on things that make you happy. There’s always a way to participate and be creative. 

My interview on Radio RPH

I was invited to do an interview on Radio RPH Adelaide on a program called Vision Extra. I was interviewed by the awesome Peter Greco and talked about my experience with Stargardt's Disease and how it lead me to establish See Through My Eyes as a not-for-profit organisation. 

I hope to keep raising awareness of Stargardt's, other vision impairments and how it affects our younger populations. Most of all, I want to keep raising awareness of how amazing and fulfilling our lives can be!

See Through My Eyes is now a Not-For-Profit Organisation!

I am very excited to share that See Through My Eyes is now a registered Australian not-for-profit organisation!

What began as a blog to share my experience with Stargardt’s Disease is now going to not only raise awareness and share information about the disease, but reach the wider community to help make a difference in the lives of people with a vision impairment.

I have brought together a team of knowledgeable Directors to achieve the organisations purposes – we are focusing on education and careers for vision impaired and blind individuals by offering a number of programs including scholarships, adaptive technology, careers counselling and support, workplace seminars and advocacy in our key areas.

My blog will be integrated into our new website - www.seethroughmyeyes.org.au. I will continue to raise awareness for Stargardt's Disease and share my personal experiences and research with you all.

You can follow the organisation on social media:

Twitter: @seethrumyeyes

Instagram: @seethroughmyeyes_au

Facebook: https://www.facebook.com/stargardtsdisease

I am looking forward to the future and change that we will make together as a strong community of amazing vision impaired people!

Updates on Clinical Trials

There are numerous clinical trials and research projects happening all over the globe for Stargardt's in different scientific and technological fields giving us great hope for the future. Here are the current clinical trials taking place:

Drug Trial of ALK-001
Alkeus Pharamceuticals are conducting a phase 2 trial of an oral drug in the United States. A phase 2 trial looks at the safety of the drug, what side effects it may have, how long it stays in a person's body and the dosing required. This study will also look at whether it affects the progression of Stargardt's. The trial will follow participants over two years assessing these key factors. For more information click here. If you are located in the United States and are interested in finding out more about participating in the trial visit their website here.

Phase 1 Trial using Gene Therapy in the US and France
This is a gene therapy trial currently recruiting in the US and France. It is a phase 1 trial thus the main focus is on looking at the dose of the sub-retinal injection and the effects it may have. If you are interested in participating, the two centres involved are the Casey Eye Institute in the US and the Centre Hospitalier Nationale d'Ophthalmologie des Quinze-Vingts in France. For more information on the specifics of the trial click here.

Stem Cell Trials
The stem cell trial using human derived embryonic stem cells (hESC) I have previously mentioned is still in progress. This trial is run by Ocata over three sites in the US (California, Florida and Pennsylvania). The trial involves an injection of the stem cells into the retina. The researchers will be observing the participants over a 15 year period to monitor the progression of the stem cells, whether they become retinal cells, how this affects vision and if there are any long term complications. More information can be found here and here.

Investigative Research
There are a couple of research projects taking place looking at different aspects of Stargardt's Disease such as its progression. It is important that researchers continue to look at the how, what, where and why of SD to better understand the disease as we don't have a lot of information about it. This information can then be used for targeted treatments and even prevention of disease progression. These projects are always good to participate in because they involve little risk (unlike treatment trials) as they simply gather information, test results and images. The more participants these types of studies get the more information can be gathered and learnt about a condition. 
The National Institute for Health Clinical Centre in Maryland, USA, is currently recruiting for a natural history study of SD. If you are interested in participating check out their website.
The other project is the Inherited Retinal Degenerative Disease Register which is not only for SD but other inherited retinal diseases. This is run by the Foundation Fighting Blindness and more information can be found here.

When to use a mobility aid

A common question that arises amongst people with Stargardt's Disease and other vision impairments is whether I use a cane, a guide dog or neither. The question then  asked is visual acuity, how it helps and why some people use aids and others don't. I've been thinking about this question a lot lately and hope to help others with a vision impairment and without to understand why I choose to use a cane and what factors influenced my decision, and hopfeulyl help others to decide, whether to use a mobility aid.

As I've previously written, my cane and I have a love-hate relationship. I went through a period of using it to not wanting to know there were three in existence in my house, to becoming best friends with it once again. For the past few months I have made a conscious effort to get used to using it and taking it whenever I'm out. 

There were two main reasons I chose to use the cane:

• Crossing roads: My ability to cross a road is absolutely terrible. I'm an avid walker and love to get out in the fresh air and walk to calm my mind. Every time I found myself curbside, I felt vulnerable, clumsy and even more vision impaired. I couldn't make out whether there were cars coming, if near a busy road there was no auditory break in the traffic and I felt like I was walking into an abyss. Then came the anxiety from the feeling of vulnerability and the loss of control. When I walked with another person, I would solely rely on them to usher me across the road. I knew this wasn't healthy and I couldn't rely on others. So Mr Cane came back into my life once again like a clingy, annoying boyfriend although this time he had gotten his act together and we were actually getting along. I found just having the cane in my hand to indicate brought a sense of calm and confidence to crossing a road, it let others know that my vision sucked and they should be patient and careful if I start to cross. More than anything it was security. It was a way of announcing to the world I'm vision impaired. People's reactions were (mostly) helpful, they would stop and let me cross and some even reversed to let me pass. It restored my faith in humanity and made me feel like the world isn't such a scary place. 
• Pavement problems: I'm a klutz on the best of days and now I'm a super klutz. The pavement around where I live seems to be really bad, the huge eucalyptus and gum trees' roots have made the footpaths cracked and uneven. Since using the cane I haven't had any stacks or tripped over where I normally would. Just to reinforce this, I went for my usual walk the other day without my cane and I tripped numerous times and realised it was my karma for leaving the cane at home. It's actually quite surprising how helpful the cane is when on the street. I never noticed how much I was concentrating on where I was going and what I was walking into. When I started using the cane I found I could relax a lot more and take in my surroundings using my other senses rather than staring intently at the ground in front of me.

Choosing to use a mobility aid such as a cane or guide dog is a highly personal choice and isn't solely based on visual acuity or degrees of vision. Each person is different, has different experiences and different needs. Here are some of the things that are usually taken into account when deciding on an aid:

• Confidence: This is extremely important. Being confident with your surroundings, with the amount of vision you have and the way you use it will impact whether you decide to use a mobility aid.
• Lifestyle: This includes work - how you get there and what you do at work ie whether you need to navigate a great deal, leisure activities such as sports or running and social situations. Use of a mobility aid may not be needed in all areas of a person's life. It is pretty much impossible to run with a cane (yes I've tried and looked like a clown running down the street) and sometimes it's better left at home.
• Location: Where you live can also play a part. If you need to travel far on public transport or have access to lifts from others will influence the decision to use a mobility aid.
• Perception: How you perceive mobility aids plays a huge role, not so much for the positive. I personally have struggled with, and still do, the stigma surrounding using a cane. There tends to be a little less stigma associated with a guide dog as they are far more cuter than a cane! As much as I'd like to say how you perceive using a mobility aid doesn't attribute to whether you use one or not, it really does play a major part. I avoided using my cane for a very long time because I was embarrassed as to what people think and I still have times where I feel like people are staring and talking about me. 

The one thing I have learned is that if I need help to not be ashamed and to use it. If a cane, guide dog or anything else helps me navigate, feel confident and improve my quality of life I should use it. I also know personally and from others with a vision impairment that because we have some sight we don't 'deserve' a guide dog. This is utter rubbish. As I mentioned before, if it helps us in life, we deserve it. Be open to trying mobility aids, sometimes you find a use for them that you had never considered.

 Image source: http://www.google.com.au/imgres?imgurl=http://4c1lions.files.wordpress.com/2012/06/white-cane-day.jpg&imgrefurl=http://district4c1lions.org/about/white-cane-safety-day/&h=399&w=600&tbnid=ELquhjxngEcDHM:&zoom=1&docid=XQcXF0wr-QH-OM&ei=44aOVb_HA9P68QWVnYDQDQ&tbm=isch&ved=0CDoQMygXMBc and https://www.pinterest.com/pin/274578908507893730/

What's all the talk about Optogenetics?

In the past couple of months there have been several news articles talking about optogenetics and its use as a treatment for eye conditions including Stargardt's, Retinitis Pigmentosa and Macula Degeneration. I hadn't come across the term so I thought I'd do some research into what exactly it is, since I am known to have to know everything about everything!

Optogenetics is a new technology, first discussed in 2004, using the ideas of neuroscience and microbial biology. The basic idea of optogentics is that light can activate and deactivate cells. It was observing algae that led to the lightbulb moment (excuse the pun). Algae would swim towards light, and scientists found a protein that was activated by the light and causing its behaviour.

Scientists then came up with the idea to remove the DNA (protein)  from the algae, use gene therapy (attach it to a virus so it can be put into other animals) and then inserting into the animal cell. Once it was in the cell, it would replicate and fill the cell with these light sensitive proteins. They could then manipulate the cells using different coloured light. They also had the ability to add these viruses only to certain cells.

This technology is being investigated for brain diseases but also for vision conditions. Below is a TED talk that explains the discovery of optogenetics, how it is being researched and describes its use for vision conditions. Basically what it says is that even though the photoreceptor cells are damaged, light can still get into the retina. Optogenetics installs cells to act as a 'camera'. The video shows an experiment they have done with mice that, I must admit, got me a little emotional thinking about the possibility of seeing things again!

Below are links to optogenetics and vision articles.

Medical Daily, 11 May 2015 

Science News, 15 May 2015 

PLOS Biologue, 7 May 2015 

Daily Mail, 11 May 2015 

Image source: https://www.sciencenews.org/article/how-rewire-eye

Today is a milestone

Today is a milestone in my journey. Apart from being my sister's birthday (Happy Birthday J!), it's also the day my driver's licence expires. 

I've held my licence since I was 16 and got my Learner's. My first care was this horrendous red Mercedes Benz station wagon that fit seven people, two backwards in the boot. It was our old family car and I think my parents gave it to me so they could keep track of where I was, because everybody knew the car and would report back to my Dad who would then phone me and ask where I was. Busted! Apart from it's hideousness, it was a sturdy, solid beast and kept everyone safe.

My second car was, once again, a dump. My Dad being a mechanic was always picking up old cars no-one wanted. This lead to my inheritance of an old blue Mitsubishi Lancer. The catch was that this car was manual, and I only knew how to drive automatic. I've never felt more uncoordinated in my life learning to drive manual. I stalled the car (not exaggerating at all) over 10 times at one intersection! Luckily, I finally got the hang of it and turned into the manual queen! 

My little Lancer got me to and from uni, and in my final year of uni I landed a full-time job and my first real income. My first purchase was a brand spanking new silver Mazda 2. She was my baby, my first really large purchase. It was only a few months after I bought my baby that I started having vision problems and was diagnosed with Stargardt's. What a slap in the face. 

I was told at that time I shouldn't be driving at all, but I'm NOT proud to say I continued to drive, only short distances and not on freeways. I know I shouldn't have but letting go was ridiculously hard. I wasn't coping with all the emotions of this diagnosis and this was another blow. 

As my vision deteriorated I knew I had to stop. That was a huge decision and something that caused me a lot of stress and anxiety. I've written about that experience previously. This was also when I decided to sell my car. It was a contributor to my rock bottom.

Even though I haven't driven for about a year, today still is a big deal. I've known this day was coming and it was always a black day in my mind. It feels as though it is now final, done, can't be changed and set in concrete. There's no chance I could renew my licence. It's almost as if I had hoped a miracle would occur and I would improve. I never lose faith until the day has passed! 

To be honest, I don't feel as bad as I thought I would. I thought I'd be feeling anxious and like my control is being taken away. Part of this lesser feeling is probably due to not having driven in a while, I essentially weaned myself of driving, then the idea of driving. I've really surprised myself and I'm surprised in my strength and positivity. 

I still hate public transport and will continue to avoid it (chauffeur wanted, enquire within!). This just gives me more motivation to succeed and bring about change for others. I want everyone else to know that it DOES get easier. I'm not going to lie and say it's a walk in the park and I don't have days when I just want to cry, but overall my outlook has changed and my drive just keeps increasing. 

It's hard to let go, but do it slowly if you can. It always looks worse when you are looking into the future, but once you're there, it's not so bad. Then when you look back, you think 'wow, I did well' and can feel proud and push yourself further. 

Stay positive and never, ever give up!

Photo credit: https://www.pinterest.com/pin/45739752440941597/

Real People #2

This month's story comes from a good friend of mine who has been a great support to me from my early days of diagnosis. I hope he can inspire you too.

Jono Goerlach, 32, Canberra, Australia

Tell us a bit about your condition and your symptoms.

At age 15 I was diagnosed with Usher Syndrome Type 2. This condition combines both Retinitis Pigmentosa, and slight-to-moderate hearing loss, which I have had since birth and wear hearing aids to combat this.

What is your current situation, what do you do?

At present, my primary focus is on being a full-time Triathlete. I've been involved in the sport for almost 3 years, building towards my end goal of qualifying for a Paralympic Games. In an effort to give myself the best opportunity to achieve this goal I chose to move to Canberra one year ago where my coach and his triathlon squad are based.

Since moving to Canberra I have also signed up to a double bachelor degree at the University of Canberra, studying Sport & Exercise Science/Sports Management.

On top of these two time-consuming responsibilities I work part-time as a Soft-Tissue Therapist to help pay the bills and maintain at least a little social life.

What was your biggest hurdle and how did you over come it?

My biggest hurdle was around the age of 26 when I reached a point in my life where the reality of my impending blindness started to come to fruition - and I wasn't even prepared for it. Initially, admitting that I was depressed and dealing with anxiety was the first step to getting back on track. The next step was to find something I was passionate about, set goals to work towards, so I could have something to focus on - sport was my passion before my diagnosis, and sport was the passion that would be the answer to moving forward. Since returning to sport my life has completely changed, to the point where I feel like I've lived two lives. I'm only just getting started :)

What are your goals for the future?

My main goal is to represent Australia at the Paralympic Games. Up until October 2014 I was focused on Rio 2016, but unfortunately that opportunity has been taken away simply due to fact that our sport has five types of disability but only three types/classes were offered a medal event. The positive, though, is that I do have an opportunity to go to the following Paralympics in Tokyo 2020.

I am also driven to finish my degrees so I can start working with athletes with a disability in areas of sporting development/management. I am also passionate about reaching out to the wider vision-impaired community to educate them and their supporters about the many opportunities there are available to them - having a disability is an opportunity to find your true abilities.

What would be your best bit of of advice for others going on a similar journey?

Find your passion and let it take over your life. Having that focus will produce more opportunities than you could imagine - life is defined by opportunities, even the ones you miss.

If you'd like to follow Jono's journey to triathlon greatness follow his Facebook page here.

Happy Rare Disease Day!

Today is Rare Disease Day to raise awareness about rare diseases and the impact these diseases have on people's lives. It is an international day held annually. 

Stargardt's Disease is considered a rare disease, with the incidence widely debated. Here are some statistics I can dig up about SD:

• SD affects about 1 in 10 000, so in Australia there should be approximately 2 300 people with SD ( I know about 10 so the other 2 290 people please get in touch!). There should be appropriately 31 800 in the United States and 6 400 in the UK. 
• SD accounts for 7% of all retinal degeneration. Other retinal degenerations include retinitis pigmentosa, Usher's disease and Leber congenital amaurosis.
• SD is also knows as fundus flavimaculatus. I'm pretty certain this is what Harry Potter would have called it if he were diagnosed. 
• It is thought that 5% of the population carry an abnormal gene for processing vitamin A. So 5% of the population have the possibility of developing a retinal disease.
• 100% of those affected by SD are amazing people!

Here's the official video for 2015.

Spread the word and spread the love! 

To find out more information, see what events are being held locally and read other people's stories, check out these links:

Rare Disease Day - International

Rare Disease Day - Australia

Rare Disease Day - US

Rare Disease Day - UK

Sources:

http://eyewiki.aao.org/Stargardt_disease/Fundus_flavimaculatus

http://www.md-health.com/Stargardt%27S-Disease.html

Real People # 1

In the coming months I will be sharing stories of others living with Stargardt's and other retinal dystrophies. These people have all inspired me on my journey and no doubt will inspire you too!

First up is Jenna!

Jenna Lawson, 22, Florida, United States

What is your diagnosis and how does it affect you?

In March of 2011, I was diagnosed with Stargardt disease, a type of retinal dystrophy. This disease impacts my central vision and, at this point, I have no central vision left. When I first began losing my vision and I was told that neither glasses nor surgery would fix my problem, I was very scared and upset. At that point in my life, I was a year out of high school, I wasn't going to school (even though I really wanted to), and I was trying to enroll in a dental assisting program that I thought would bring some direction to my life. I had successfully enrolled in a program and was due to start in a few days when I received the news about my eyes, so I had to withdraw from my classes until I figured out what was happening with my vision. In addition to feeling scared, I felt angry because all I wanted to do was get my life on track, but all of these events were preventing me from doing so.

I, thankfully, received an official diagnosis two months later, and I remember thinking: "This is my life now. There is no looking back." I was so relieved to simply know what I was dealing with that acceptance came very easily. I was so eager to pursue my life that something like Stargardt was not going to stop me. Funny thing is, Stargardt disease turned out to be one of the biggest blessings of my life because, not only did it enable me to attend school, but it helped me realize my true strength and tenacity. It's strange how something that, at first, seemed so negative turned out to be such a positive and motivational experience.  I definitely encounter challenges from time to time, but I have accepted my eyes for what they are and this alone has given me great peace.

Where do you currently work or study and how do you find it with your vision impairment?

Currently, I attend the University of Central Florida, and I'm pursuing a Bachelor's in Social Science Education. My goal is to become a history teacher. Before UCF, I attended Weber State University in Utah. When I lived in Utah, I walked three miles to the nearest bus stop, in the cold and the snow, and then rode the bus for an hour to school. I kept getting sick because of the cold and I hated the long commute, so I moved to Florida where I'm able to wear sandals and shorts almost everyday. I take classes online, and I also take classes at a location that is about three miles from where I live. I ride my bike to and from this location, rain or shine. School is my job, at the moment, but I spend a lot of time volunteering at an elementary school. I ride my bike there, as well, because it's close to where I live. If I have to go anywhere else, like the grocery store or the dentist, I have to have a friend or family member take me.

What hobbies do you have?

I love to paint and draw, write stories, read, spend time at the beach, hang out with friends and family, watch movies, travel,  study world history, and belly dance. I continue to enjoy all of the activities I did before I began losing my vision. I started belly dancing about a year ago because I wanted to improve the health of my spine (I spend a lot of time hunching over notes and textbooks because I have trouble seeing).

What has been the biggest hurdle you have faced?

The biggest hurdle I have faced has been transportation. Transportation has been the most persistent and frustrating problem. In the United States, there is sort of this expectation that anyone 18 or older should be largely dependent on themselves. Lack of transportation makes it so you have to depend a lot on other people, and a lack of transportation can also limit your access to job opportunities. Learning to accept a state of dependence is difficult, and it can sometimes feel demeaning when you live in a culture that places so much emphasis on independence and "finding your own way". Not being able to provide transportation for yourself also shows who your true friends are; those that truly care will undoubtedly find the situation tricky, at times, but they will be there to support you no matter what, whereas others will see you as a burden and will disappear from your life. I take this hurdle one day at a time. As far as relationships and job opportunities go, I have come to view my transportation issue as a filter. In other words, opportunities and relationships will continue to be in my life, regardless of my eyesight and the challenges I must face on a daily basis.

What's the best advice you'd give to others in this situation?

I have learned some very important things over the past few years that I would love to share:

• Acceptance leads to success. Looking back on what used to be doesn't make things any easier, and it most certainly will not make you happy.
• Be your own advocate. If you need help, don't be afraid to let people know. There are so many resources for people who are visually impaired. It's truly an amazing experience when you connect with people who are dedicated to your success and well-being.
• Realize that things could be a lot worse. Honestly, I'm lucky to have Stargardt because, while I may lose an extent of my eyesight, I will never lose all of it. There are people out there who have suffered much worse and, amazingly, they have powered through it and come out on top. These people have been my greatest source of inspiration
• Never let others minimize your frustrations, challenges, or experiences.
• Pursue your interests and continue to live your life.
• Honor your sadness, frustration, and fear, but don't allow these emotions to consume you.

Thanks Jenna for sharing. You have been an amazing friend and support from the other side of the world!

Here are some of Jenna's beautiful artworks. I've previously shared some of her work make sure to also check it out here.

If you want to connect with Jenna on Facebook click here.

Selling My Independence

This week was a big milestone in my journey of acceptance. I am actually quite surprised that I did it and finally let go of something I had been holding on to so tightly.

Probably slightly melodramatic, but I sold my independence this week, my beloved car. I had bought my car brand new almost five years ago to the day. After driving around in hand me down cars (including a red, seven-seater Mercedes Benz station wagon from before I was born), I had finally splurged on a shiny, fresh new car. I was very attached to my car, it had travelled with me through so many life events and it was like my solace where I could feel calm and even have a cry. Ok it does sound like I was in a relationship with my car but since I'd driven for 10 years I had really gotten used to having it.

I should have stopped driving a few years ago although I didn't stop (and I in no way recommend doing this). I continued to drive locally to and from work. As my sight deteriorated I realised I had to let go, I had to give it up. In March this year I made the decision that I was going to let go, I wasn't going to drive again and I was going to literally start from the bottom and learn to be independent in a new way. This caused me great anxiety and stress and by no means has it been easy or am I close to being entirely independent. I grew to rely on driving, I never caught public transport, so I'm literally learning how to do everything again with poor vision. 

I tried to find a reason to keep my car - someone in my family would drive it, I could give it to my brother, we could have a spare car, but deep down I knew it was pointless. I put it up for sale a month ago, grudgingly. 

As the weeks past I still tried to find reasons to keep it and more people came to look at it. Once I found a buyer, the few days before they picked the car up I started to think to myself I should just keep it and I didn't want to give it up. The morning they came to pick it up, I paced around the yard and my anxiety levels grew. I knew I had to do it and I knew that once I did I would feel stronger.

It was actually easier than I thought (possibly helped my a massive envelope of cash). It was even empowering. I was proud of myself. I had let go. I had let go of something I had been holding onto for many years. I knew I could do it, that I could face this new chapter. 

And here I am. Car-less, less independent perhaps but with a greater level of determination. Of the years I have been battling Stargardt's, this week definitely was a big step for me. Onwards and upwards!

Increased Senses

A common question I get asked is whether since losing my vision my other senses have increased. Generally I would answer no, but lately I've noticed that my senses have been changing and adapting. This is probably due to being more aware of what is happening around me and being more accepting of the need to use my other senses more in every day life.

I would not describe myself as having good hearing, quite the opposite especially since I had ear problems as a child which have continued into adulthood. Since learning how to use a cane to navigate, I have had to tune into my hearing more to help me cross roads. I think in the past I just didn't pay attention to what was going on around me on an aural level. The first time I tried to listen to determine whether it was safe to cross I felt overwhelmed and had no idea whether I should wait or go. I was also not accepting that I needed to be using a cane and my ears, and this also played a role in having so much difficulty tapping into the sense.

Another big help to me learning to tune into my other senses is practising mindfulness meditation everyday. I started learning about mindfulness to help with anxiety and I was instantly hooked on it. I was always interested in meditation, using it infrequently, but mindfulness really resonated with me. It teaches you about being in the present moment and to be aware of your body and your surroundings. 

My favourite way to practice mindfulness is to listen to the sounds around me. I was shocked when I first tuned in and heard at least five different birds, all in the middle of a big city! I had totally forgot the existence of the wildlife around me! I also can hear the traffic (which is surprisingly relaxing), the trains which are about a five minute drive away and the bats squabbling constantly. This probably sounds lame and like I have no life but I actually enjoy just listening! I've always been a person constantly on-the-go and always engaged in an activity but I've actually learnt to stop and just be, and it has helped with accepting my diagnosis and also in aiding my adaptation.

It truly is incredible what goes on around us and within us, and tuning into it has been a rewarding experience. I'm learning to embrace just listening, not having to rely on my eyes, to experience the world in a different way. You don't need to see every detail, you can combine what you see, hear, feel and smell and that is just as satisfying as being fully sighted. 

Hope

Living with an incurable, degenerative disease which leads to permanent disablement and blindness is one of the hardest challenges a person can face. Doubled with the fact that the process usually begins in early adulthood when a person has discovered who they are and figured out their life goals and aspirations can make the situation even more confronting and distressing.

Hope can be a strong and powerful feeling that helps anyone going through this situation, and other situations, get through the day. But is there such thing as 'unhealthy hope'?

My main concern is when hope for a cure dominates everyday thinking and finding a cure is the only way someone can accept their diagnosis or find the will to continue on. 

The one thing for those who have Stargardt's, and any other inherited retinal disease, is that we may be losing our sight, becoming 'disabled' and 'legally blind' but we still have amazing, fulfilling, satisfying and successful lives. Our lives may be different from what we expected them to be, but I guarantee we will look back when we are older and think we wouldn't change a thing.

In saying that it won't be a walk in the park, but in life what ever is? I know myself struggling through another uni degree determined to complete my third degree as a 'legally blind' person and then ultimately completing my PhD will be one of the most satisfying moments in my life. People always ask me how I manage, and to be honest, I don't even know! It is literally pain and tears to get me to where I am and I still have a long way to go. 

I really want everyone to remember that a cure isn't the only answer for us, while it would be fantastic, our lives are still worthwhile and filled with incredible opportunities. 

Always stay positive and remember, no matter what the goal is, you can always get there, you may just have to take a different path to achieve it. 

Online Support Groups

I know I have been very slack with my blog and it's time I made up for it! I have been very busy having a love hate relationship with my cane, giving up driving and leaving my job. You could say I'm having a mid life crisis (at 27). 

Something I have been meaning to do for a while is organising online support groups where we can talk in real time no matter where we are in the world. This will happen through Skype and I hope to organise it on a monthly basis. 

I will mediate the groups so we can get the most out of it and we can discuss different topics/experiences at each meeting.

If you would be interested in participating, please send me an email with your name, diagnosis and location to seethroughmyeyes2010@yahoo.com.au or alternatively comment with the details below but I will need your email to contact you.

Let's get this going and connect to help eahother!

Update on Current Clinical Trials

It is an exciting time in medicine and especially for Stargardt's sufferers and others with inherited retinal diseases. Here is a summary of current trials:

Phase I/IIa study of StarGen (Gene Therapy)

This study is being conducted by Oxford Biomedica at two sites, Oregon Health and Science University (US) and Institut de la Vision (France). Recruitment was suspended earlier this year to investigate impurities in the substance. The study will resume in about three months. 

StarGen - Foundation Fighting Blindness

Sub retinal injection of hESC into RPE (Stem Cells) 

The phase I trial being conducted by Advanced Cell Technology is continuing. The second cohort was recruited in July. There have been no further updates since the last press release. 

Stem Cell Therapy - Advanced Cell Technology

Stem Cell Ophthalmology Treatment Study SCOTS

This stem cell study is using cells derived from autologous (your own) bone marrow which is then injected into the retina. The study is looking at whether there is improvement in visual acuity and visual fields. It is not only looking at Stargardt's patients but also patients with optic nerve diseases and other retinal diseases. The study is being conducted by the Retinal Associates of South Florida (US). This will be an interesting study to monitor.

Bone Marrow Stem Cells - Retinal Associates of South Florida

Safety and Tolerability of MA09-hRPE cells (Stem Cells)

This is another embryonic stem cell trial currently recruiting in Korea, conducted by CHA Bio and Diostech. The trial is similar to the ACT trial.

Stem Cells - CHA Bio and Diostech

Saffron Supplementation and SD

Another study currently recruiting is looking at the effects of saffon supplementation on Stargardt's specifically. The study is being conducted at the Catholic University of the Sacred Heart in Italy. The study is a crossover design meaning that each participant will receive the placebo and treatment for a period of time. I have personally tried saffron and feel as though my sight improved so I am looking forward to the results of this study.

Saffron Supplement Trial

ProgSTAR Natural History Study

This study is funded by the Foundation Fighting Blindness and aims to investigate the disease further and also follow the progression of the disease. This information can then be used in future intervention trials. This is a multi centre trial across the US, UK and Germany. This would be a great study to participate in if you are local to one of the centres. 

ProgSTAR - Foundation Fighting Blindness

Natural History of Eye Diseases Related to ABCA4 Mutations

Here is another study looking at disease progression in Stargardt's . It is being conducted by the National Eye Institute in Maryland (US). To participate you must be at least 12 years old and follow up is over five years. 

National Eye Institute - Natural History Study

Novel Quantification Methods to Detect Progression in SD

This is another trial currently recruiting which is using a specific technique is learning more about the progression of Stargardt's. The trial is being conducted by the Kellogg Eye Centre in Michigan (US). This study is focusing on kids and teens (ages 5-18).

Kellogg Eye Centre Trial

High Resolution Retinal Imaging Study

This study is looking at the use of an adaptive optics scanning laser opthalmoscope AOSLO to take pictures of the retina. The aim is then to analyse these pictures to better understand Stargardt's. This study is also being conducted by the National Eye Institute. 

AOSLO study - National Eye Institute

Looking forward to seeing the results of all the trials.I will keep you all posted. 

The Grieving Process

Usually when we think about grief we only think about the loss of a loved one. We can also experience extreme grief in other situations, including the one we face after being diagnosed with a vision impairment which will ultimately send us legally blind. In fact, we are really grieving the loss of our vision, our independence, our hopes and dreams for the future.

I hope my experience was unique, although I highly doubt it was, but I truly felt abandoned at my time of diagnosis, like I was left in the dark by health professionals and given no guidance, no encouragement and no hope. As I have mentioned previously, I was told “you have a condition called Stargardt’s Disease, there’s no treatment, so there’s not really any point in us seeing you again unless you face problems in the future”. I walked out of the ophthalmologist’s office feeling lost, confused and helpless. Being a person who you could probably describe as a perfectionist, I had my whole life planned, aspirations, goals, career paths, and it was all taken from me without any real explanation. I began grieving the impending loss of my vision and all that would follow.

A common model of grief (Kubler-Ross model) talks about five stages of grief. When grieving, you can go through the stages and then revert to a previous stage. The experience is different for each individual. Denial is commonly the first stage. “I don’t have this condition I see fine” or “they must have it wrong, we have no family history of eye disorders” were common thoughts I had. I really think I spent the last two years in and out of denial until I received the result of my genetic testing which finally confirmed that I have the faulty gene.

Anger then follows, “why me” or “thanks mum and dad for giving me rubbish genes”. The thought of “why me” went around and around in circles in my head. I was also angry about the timing, just finishing my degree and with my independent adult life ahead of me.

Another stage of bargaining also takes place. This made me search for hours on end for alternative methods to halt the process, diets , supplements, miracle cures that were hiding somewhere. Although this is not necessarily detrimental, if it gets to the point of being all consuming it can be quite distressing.

Of course depression shows its head in the process. This stage is probably the most likely to reappear. Just as you think you are coping ok, bam, he’s back. I’ve allowed myself to have the days where I do get down about the situation, as long as I promise myself I will get back up. It is ok to feel sad, we are losing an integral sense, but we need to remember that there’s a way through this.

Finally we meet acceptance. I don’t think I’m there yet. I may tell myself and others around me that I have accepted my condition, but deep within me I know I haven’t. It’s also hard to truly accept a degenerative condition because just as you start feeling at ease with the situation, your vision deteriorates and you feel as though you are back to square one.

All in all, it is absolutely normal and healthy to feel each one of these emotions and different times. I highly recommend speaking to a professional. I think it should be mandatory that when a person is diagnosed with a vision impairment they are offered counselling and support. Also talking to family and friends can help with the process, after all, it is likely they are grieving with you and feel even more helpless than you do as they don’t know how you feel or how to help. We should all remember that to feel this way is normal and know that you are not alone.

Below are some helpful links.

Headspace Australia - Grief

Beyond Blue Australia

Mental Health America

Mental Health Foundation UK

DNA Testing

Today I finally got the courage to go an get all the blood sucked out of me. Well it felt like all of it.

When it comes to needles I generally swing two ways - either I'm the bravest person you'll ever meet and it doesn't phase me, or I'm the biggest baby. Today I was a baby.

I went to get my blood taken to send to the Inherited Retinal Diseases Register to get genetically tested. I have been meaning to do this for a while, had many discussions with my family about ethical issues, and finally decided to do it as I would actually get the results. We are also planning on getting my parents blood taken too and possibly my siblings.

So in my nervous state I took myself down to the pathologist, with my friend who had to put up with me. They took SIX VILES of my blood. I don't think I have much more than that and to top it off I have the worst veins and it is always an ordeal to take blood from me.

But with my friend by my side distracting me I sucked it up and tried to look brave while I sat there for what felt like an hour with the needle in my arm sucking out the blood. I must admit it was one of the longest blood tests I've had!

I feel as though this genetic test will 100% confrim my Stargardt's, even though clinically I do have it, but there is always a doubt and 'what if' I have something else?

I encourage any Aussies who haven't already made contact with the Inherited Retinal Diseases Register to do so. They are really helpful. Here's their link.

Inherited Retinal Diseases Register

Australian Inherited Retinal Diseases Register

I have previously posted about the Australian Inherited Retinal Diseases Register based in Sir Charles Gardiner Hospital in WA. I plead with anybody who hasn't yet registered to give them a call so that we can get a better idea of how many Aussies are affected.

I spoke to the Research Assistant, Ling, who kindly gave me the statistics they have collected so far. Currently there are 147 registered as being affected by Stargardts. Considering we have around 22 million people in the country, that is 0.000735% of the population (if my maths is correct). So let's spread the word and see if we can get all the Stargardt's people to register!

You can also donate your DNA to their DNA bank for future research. I have also convinced my mum, dad and siblings to give blood too (after I told my sister it was a needle in her rear end and she believed me!), so that in the future researchers can analyse the genetics of the disease.

For more information check out the website below or contact Ling Hoffman (08) 9346 2449.

IRD Register

More hope!

Another clinical trial is being conducted in Rome, Italy, directly relating to Stargardt's!! This is very exciting news! The study centres around Saffron (a spice) as it is thought to be a "retinal neuro protectant against oxidative damage" (see link below).

The study plans to give saffron supplements to participants to study its effects. This is very exciting news as it seems to be a much simpler way of treating or at least halting the disease. I am even considering going to my local health food shop and getting some supplements or maybe even eating some spicy saffron food!

Fingers crossed this trial is successful!

Check out the link below for more info.

Stargardt's Saffron Trial

Electrodes from hell!!

Looking back on photos from last year, I came across some my mum had taken before my diagnosis during an electrophysiology study (EPS) of my eyes. This was to determine what extent my retina had been affected.

I remember this day to be long, bordering torturous, although I was extremely lucky to have the most amazing technician at Prince of Wales Hospital in Randwick, Sydney. In total, I sat in that hard stool for four hours! I had about a hundred of the yellow anaesthetic drops in my eyes along with dilating drops, and fondly enough I was a pro at putting in drops by the end!

The tests were definitely testing my patience; each eye I had tests repeated with different types of electrodes, in the light and in the darkness. I was definitely sick of staring at the same spot for hours on end.

The electrodes were placed on my forehead, ear lobe and in my eye. I looked like a freak! Yet my mum insisted on taking some happy snaps! One electrode was like a very thick contact, with cords coming out of it, and the other was a thin sheet of gold that hooked into the eye. Yes, hooked sounds horrible but it literally did, and I guarantee you I did not feel a thing and remained totally calm thanks to the amazing technician!

Apparently I need to repeat this test every three years. I'm definitely not looking forward to it again!

Anyone else had this experience?