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

Watch out, cane about!

Guide Dogs have launched their "Watch out, cane about" campaign with an informative and positive video. Everyday pedestrians are blind folded and attempt to cross a road with a cane and a guide. It is really interesting to see the reactions of others. The is also a guide on what to do if you see a person crossing the road with a cane. 

Great video to share with family and friends to help them better understand what it is like using a cane. 

Thanks Guide Dogs!

Finally a pen I can see!

When I had my consultation with the vision impairment specialist, he suggested I invest in a Pentel pen. Usually he gives a freebie to all his clients but unfortunately he had run out. He said I was able to get the pen from my local Officeworks (stationary shop) and they came in a range of colours.

To my great disappointment, my local Officeworks didn't stock the particular pen, and I had to order them online in a box of 25 all black. So of course I procrastinated because 25 black pens was not appealing to me.

Today turned out to be my lucky day. My friend and I ventured to Officeworks to discover a huge new wall full of pens. Of course we had to try every one out and we found the Pentel I was looking for!

The Pentel's I bought are the S520 Sign Pen (0.8mm). They look like a marker but they write like a pen except in a more bold ink, making it easier to read. It also doesn't seep through the page unlike standard markers. The pens cost me $2.71 each (I bought 7!). 

Definitely worth a try! I highly recommend. 

IOS 7 and VIPs

Today I updated to IOS 7 on my iPad (I use a Samsung mobile). I'm not actually sure if previous versions have as many accessibility features, but I found the most useful feature for my vision was the "Larger type" text feature. It gives you the option to increase the font size in any app that has enabled the feature. Of course I made it almost to the largest and then I tested out all my favourite apps. 

The standard email app is now awesome. The font is enlarged in the content and title of the email and it makes it really easy to use and puts less strain on my eyes. 

The other app I barely used previously was the standard calendar. I found I could never read at a glance what appointments I had so I never used it. The design has changed and it is visually appealing plus the appointments are larger so I can actually see what I am supposed to be doing!

Other apps I use that I've found to be easier to see are: Music, eBay, Maps and Podcasts. I'm assuming the update would also be useful for iPhones, but I found the biggest problem I had with the iPhone was the size of the screen in comparison to the text sizes, which is why I switched to the Samsung.

IOS 7 is definitely worth an update.

For the girls (and guys?!)

Something I have been battling for a while is grooming. It's ever so hard to do the usual girly grooming that when you are sighted you take for granted. It seems like a petty issue but it can have a whole lot of impacts especially with self esteem.

My biggest problem now is I can't tell when it's time to visit the beautician. It gets to the point where one of my younger brothers will say "geez you need a wax" and it's off to the beautician I go. There's no chance I can do it myself any more as I can't see the little hairs. It then gets me thinking what have I been looking like every day?! Most people don't like pointing out things like this so I now rely on my family to give me the heads up. 

Another important issue is putting on make-up. I've had people ask me how do I put on eye liner if I can't see? Well I end up poking myself in the eye and usually I end up with the "smoky" look when I wasn't going for that at all. Luckily years of experience have meant I can put make-up on without looking to a degree, and then I hope someone tells me if I've made a mess of my face before I walk out the door.

For instance, I went to work and for a few hours I went on my merry way until a friend asked me if I had grey hairs. Grey hair I'm only 26!!! It turned out I had foundation in my hair and she fixed it for me. But in the 2 hours before that no one mentioned anything! 

I guess now I need to rely on others more often even though I am very resistant to doing so. I'm also lucky I live with other people so I can always ask if I'm looking terrible (and hope they give me an honest answer). 

So if you see me and I have make up all over my face, please tell me because I guarantee you I can't see it!

DNA tells all

I recently got preliminary results from my genetic testing (that I did almost two years ago now!). They showed that I do have the mutation in the ABCA4 gene and it is the recessive condition. I need to have further testing to determine whether I have two recessive genes (from each of my parents) or one recessive and a gap (only one parent has the recessive gene). We can then go on to test my parents and my siblings if they choose to.

I must admit it is quite confronting getting the results. Even though the condition is 99% diagnosed from other methods such as EPS and deterioration can be seen in the macula, there's still always that small doubt or hope that I have been wrongly diagnosed and have another condition with a treatment. It is such a tiny hope but I found myself holding onto it in the back of my mind. 

Finally being told that yes, your genes definitely show this condition, I got slightly emotional, even though I've known I have SD for a few years now.

In my true style, I had a small sook, sneaked some cuddles from my work colleagues, and turned the positive me back on to think of more ways I can help myself reach my goals, and most of all inspire others. 

New gadgets!

Today I had my second work place assessment to see if I need any more help since my vision has deteriorated. Once again I applied through Job Access, an Australian government reimbursement program. Originally I received my ZoomText software, a large screen and a hand held magnifier.

This time round I didn't really know what exactly I wanted or needed and really just wanted to see what technology was available that would help me. I learnt all about "eye fatigue" and ways to minimise this. Since my job is predominantly computer based, it is important to ensure I sit correctly, which is something I never considered. Usually I sit cross legged on my chair, swing around and use thousands of fluoro post-its. Luckily I am hopefully receiving a foot rest to stop me from sitting like a yogi and an arm for my screen which will help on the days where I am a little more tired and can bring it closer to my face without straining my neck.

I was also shown an array of magnifiers, from hand held to huge star trek looking things and I have been recommended for a few different magnifiers to help with reading long documents. 

I must admit at first the experience was slightly confronting, especially since it is in the work place and sometimes I do worry what people will think, but usually once I show them all the cool gadgets and software they get jealous. It's also hard to accept that I need more help to do my everyday activities and sometimes it takes more effort but the quicker I get over that feeling the better. It's a fact of my life and it's fine. I still manage to work well (I'm quite an exceptional worker if I don't mind saying myself). I am still reluctant to try more speech based applications but I am a very visual person so I am trying to find ways to maintain this.

It was a great shopping experience! Once my application is approved and I purchase my new toys I will share more!

For those that haven't contacted Job Access yet here is the link. It's a great scheme and is not only for vision impairment but any disability. 

Job Access Australia

Study study and more study

Whoever said you can't complete university degrees and be vision impaired? Or legally blind? Yes you definitely can. 

My unfortunate absence is due to the fact I am studying two degrees at present, a masters and also psychology, and have been swamped in uni work. It has been a constant battle working and studying whilst being vision impaired but I am one determined cookie. 

I has been quite a challenge finding ways to read my textbooks, do assignments and keep up to speed with all the work. Once I found the tools to help me study I got into a rhythm and it wasn't so hard. I had to get my textbooks in PDF format and load it onto my iPad so I could read them, and the uni would send me any document in a larger font.

I also completed my first exams being vision impaired, as I was diagnosed at the end of my last degree, so I was unsure of how I would cope and even what adaptations I would need. I was given extra time but I'm happy to say I finished way before the allocated time (such a nerd). The only problem I had was colouring in the little circles on the multiple choice answer sheet and had to get someone to do it for me. 

It has been a really rewarding experience and I must say oh so satisfying to have completed four subjects whilst working. 

If you have ever had a dream or a goal to study and have a certain profession, GO FOR IT. There is always a way. 

Stay determined!!

Update on ACT trial

ACT recently announced treatment of a Stargardt's patient with 'better vision', as compared to the previous patients treated. It is very exciting following the trial progress and I can not wait to see the results.

The second patient treated had visual acuity of 20/100 (6/30) which is exciting as the trial is not only looking at the end vision stages but also the earlier stages, which is probably what I would be.

Here's ACT's press release:

Advanced Cell Technology

Looking forward to the results!

Fighting Youth Blindness Charity Dinner

I'm very excited to share that Retina Australia is holding a Fighting Youth Blindness Charity Dinner!

It will be held Saturday 20th July at Castle Hill RSL in Sydney.

We are aiming to raise money to fund research for retinal diseases including Stargardt's Disease and Retinitis Pigmentosa, for support for those suffering from the diseases and also to raise awareness of the conditions.

It's going to be a great night out supporting a cause that is still quite unknown amongst the community.

Get your tickets here:

Buy Tickets Now!


You can also join the Facebook page to keep updated on the event including special guests!

Fighting Youth Blindness Facebook Page

My new little friend

Before Christmas I was a bit depressed. So what did I do? I went to my local dogs and cats home. I had been considering getting another cat as I already had one furry friend (not to mention three dogs) but knew my parents would probably kick us all out.

There were so many little critters looking for a home and I couldn't resist and decided I would adopt one. There was one little bugger that caught my eye from the moment I walked in, he kept climbing the netted side of the cage and licking my finger. He was also blind in his left eye. It was instant love. I knew nobody would look twice at him because he was different, but he was like a cat version of me! Oh and the opposite sex!

So I took my little friend home and named him Billy Bob. He has such an adorable personality and sometimes acts more like a dog than a kitten. Even though he can only see from one eye he is confident and runs around the house, climbing furniture and playing with peacock feathers. He has little stumbles and if something is in his left field of vision he doesn't see it, but that doesn't stop him sneaking out the front door!

Just a little more inspiration in life - human or animal, vision impairment affects all life. Just think of little Billy without a care in the world!