Archive for the ‘Genetics’ Category


Determination and Retinoblastoma – Are They Linked?

December 23rd, 2007 by janet

A recent story reported in the UK’s Daily Mail featured an extended family who share a fighting spirit and a brush with life-threatening eye cancer.

Jarvis (aged 20 months), his father Andy (aged 41) and his grandfather John (aged 70) have all experienced retinoblastoma and carry the defective gene. Due to the treatment options available to each of them at the time of diagnosis, the outcomes have all been different.

Grandfather John lost both his eyes to the cancer when he was seven, whilst his son, Andy, lost only one eye. For baby Jarvis, chemotherapy initiated when he was three months old proved successful in treating the nine tumours in his eyes. But when a further tumour regrew, pioneering radiotherapy at Barts Hospital was used to eradicate it.

This Christmas, Jarvis and his family can relax as they open their presents because Jarvis is in remission.

But as I read this story, a strong theme of determination shines through.

Neither blindness nor partial blindness has stopped John and Andy from leading full lives. Totally blind grandfather John not only took to the ski slopes, but also installed his son and daughter-in-law’s central heating system by himself. And Andy, with the sight in only one eye, teaches dancing.

I’ve heard many stories like this one, where adult survivors of retinoblastoma have achieved so many things in their lives. Even the total loss of sight has not impeded them in any way. In fact, it has spurred them on to try harder, find more challenges.

So is there a link between determination and retinoblastoma? Which comes first? It’s certainly something that has been part of my life and has kept me going. I’d love to hear your story.

Whether you’re an adult survivor or a parent of a child with retinoblastoma, I’d love to hear from you. So please drop me a line.

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Posted by janet Posted in Blindness, Eye Cancer, Eye loss, Genetics, Retinoblastoma | No Comments »


A Controversial Topic in Adoption?

August 15th, 2007 by janet

We all know that reunions between birth parents and adoptees don’t always go smoothly or last the distance. But why is it that relationships between biologically related people are so difficult and take so much work?

I came across a blog post by Amba which addresses this sensitive subject. In her post, she reviews a book by David Jones entitled “My Father’s House”, an adoption memoir written twenty odd years ago. In this book, a couple of thought-provoking ideas are raised.

The overall theme is that blood is not thicker than water, ie that being genetically related does not guarantee acceptance or bonding. Jones describes a practise in ancient Roman times when a man who sired a child had to have that child placed at his feet after birth, so that he could pick it up and “bond” or adopt it as his own. Without this happening, the father has not committed himself to being the father of that child.

Jones goes on to align adoption with marriage. In marriage, each person chooses the other and makes a commitment to a relationship. In adoption, there is also choice and an agreement to commit to an ongoing relationship.

Jones’ message is clear. When parents and children are forced apart by adoption, the “bond”, albeit biological, has been broken and is not strong enough to ensure a connection when these parties meet later on in life. He believes that the reason that adoptees see their adoptive parents as their “real” parents is because of the choice factor, despite it being one-way rather than two-way.

This perspective may evoke some heated debate. Is Jones mainly speaking about birth fathers who don’t carry the grief and loss that birth mothers do? And how does he explain the really strong relationships between separated families wen they are finally reunited? And what about the myriad of other factors that come into play when families affected by adoption come together?

For those adoptees who struggle with the question about why their reunions haven’t succeeded, such a theory makes perfect sense. Perhaps it is a chink of the puzzle that forms the complex picture of adoption.

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Posted by janet Posted in Adoption, Book, Genetics | 2 Comments »


The Time Bomb of Retinoblastoma – Chapter 11

April 3rd, 2007 by janet

I gave Chapter 11 of ‘Beyond the Red Door’ the title of ‘Time Bomb’ for a good reason. It wasn’t until I was about thirty-two years old before I discovered the links retinoblastoma has with secondary cancer later in life. I felt as though I’d been living with a time bomb that neither my parents nor I was aware existed.

I’d known that radiotherapy as a treatment for cancer had its own late effect concerns in that it could cause the disease it had originally eliminated. But it was only through some chance events and encounters that I discovered that retinoblastoma also had links with secondary cancers. At first, I thought bone cancer was the one and only concern, and that once I’d finished growing, this wouldn’t be a problem. But my inadvertent wanderings led me to find out more, and I knew it couldn’t stop there.

In this chapter, I describe what I found out, the attitudes I encountered, and how I resolved my new-found situation. I’d been severely shaken by this new information. It felt as though my life had been turned upside down. It was crunch time for me, and I had to make a choice.

You can read all about my struggles in this chapter in my book

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Posted by janet Posted in Book, Eye Cancer, Genetics, Long Term Effects of Radiotherapy, Retinoblastoma | No Comments »


Screening for Secondary Cancers Being Stepped Up

March 15th, 2007 by janet

I think it was almost ten years ago now when I first stumbled on the fact that retinoblastoma survivors can get secondary cancers later on in life. Back then, I was like a dog with a bone, pursuing the medical profession to get answers, and to design a screening program for me to detect early cancers.

So when I fronted up for my annual breast ultrasound yesterday, I shouldn’t have been surprised when the doctor began telling me that ultrasound was not enough, that I needed a mammogram and an MRI. Now that I’m forty years old, things have changed.

But I was. I wanted to say ‘no thank you, I’m fine’ and ‘let’s just do the ultrasound and I’ll go home’.

Why was I so reluctant to keep my finger on the pulse and ensure I was getting the best medicine could offer me in the way of a screening program? Well, maybe it was because, for the first time, someone was saying to me that I was in a high risk group, and I needed to be watchful.
Maybe I dont’ want to hear this, maybe it is too confronting? My life is going so well,and I don’t want it to change. I also hate hospitals and quite honestly, anything other than an ultrasound scares me.

Part of it too might be that it seems like overkill that they’re putting all these resources into just looking for breast cancer wen I know full well that secondaries can occur anywhere. An acquaintance of mine died last year from a leiomyosarcoma. She was 49 years old, had bilateral retinoblastoma and radiotherapy treatment. Detecting a leiomyosarcoma is near impossible.

But I’ve pushed down my fear and reluctance and booked myself in for the MRI. I know it would be crazy to ignore what the doctors are saying. They are taking me seriously, acknowledging that I am at higher risk. I owe it to myself to keep up the screening program.

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Posted by janet Posted in Genetics, Retinoblastoma | No Comments »


Screening for retinoblastoma in babies

January 20th, 2007 by janet

I had a lovely email from Karina, a Mum of a 3 year old girl, Chloe, who was diagnosed with unilateral retinoblastoma at age two. Karina had noticed one of Chloe’s eyes had irregular movements,and reported this at regular health checks. The doctor didn’t think this was abnormal, and dismissed it, until at her two-year-old check, Karina reported a strange glow in the eye.

It was only then that the doctor took action and Chloe was found to have retinoblastoma. You can read Karina and Chloe’s story here

Karina is an incredible person. She has taken it upon herself to advocate for the screening of babies for retinoblastoma. She is actively doing this, as well as undergoing the emotional strain of her daughter’s regular health checks, exams under anaesthetic and MRI’s. But she is determined to make a difference for other parents and children.

Karina mentioned to me the feeling of guilt that parents of retinoblastoma children go through, that haunting question of “should I have picked it up earlier?” No one can ever erase that guilt, and I’m sure my parents also felt some guilt over the years. I, too, had a lazy eye, which wasn’t seen as a real problem, then my parents saw the whitish spot in one eye, and that’s when the doctors took notice.

I think all babies should be screened for retinoblastoma, even though it is seen as rare. As a geneticist told me, it’s amazing there aren’t more cases of RB, because anything can go wrong at conception, which is when one of the RB genes can just go missing. Why should everything be perfect? It’s food for thought, and an interesting point. And yet another reason why there should be some sort of mandatory screening for babies.

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Posted by janet Posted in Eye Cancer, Genetics, Retinoblastoma | No Comments »


The link between retinoblastoma and secondary cancers – new study

January 3rd, 2007 by janet

The January 3 issue of the Journal of the National Cancer Institute contains the results of a new study examining the links between hereditary retinoblastoma and secondary cancers. This article emphasises the need for survivors of retinoblastoma to be monitored for specific future cancers. This study focuses on the increased risk of soft tissue sarcomas, particularly where the patient has had radiotherapy. For people treated by other therapies, there is not such a risk.
You can read a news release on the study here
I no longer feel alarmed when I come across research such as this. My belief is that it is better to be informed, rather than to be totally unaware of what might happen to my health in the future.
This subject brings me to a later chapter in my book, ‘Beyond the Red Door’, so I’m jumping ahead. I was in my early thirties when I first discovered the connection between retinoblastoma and secondary cancers. How did I find out? By chance, while I was surfing the internet. Naturally, this sent me on a hunt for more information, and to establish a monitoring system for myself, to alert me to any signs of developing tumours.
This is the ticking time bomb I refer to at the end of chapter one.
Why didn’t my parents or I know about it? In Australia, anyway, the same response seems to come up: because doctors dont’ want to alarm their patients. When I started on my mission for the truth, I came across this sort of response: “You’ve got just as much chance of developing cancer as anybody else – why worry?”
Not true. Specialists in the field in other countries, such as in America and the UK, don’t hold back on stating that the risks increase as retinoblastoma survivors get older. Together with this information are brochures and fact sheets on how adult patients can monitor themselves, and what to look for.
As I said, learning about the types of cancers I could get, and I emphasise could, doesn’t depress me. The advice I’ve been given is to watch out for melanomas (skin cancers) and breast cancer, as well as cancer in the radiotherapy site. Reading this study has extended the list of possible secondary sites for me. But forewarned is forearmed. We all need to watch our health…retinoblastoma survivors just have to watch a little bit more closely.

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Posted by janet Posted in Eye Cancer, Genetics, Long Term Effects of Radiotherapy, Research, Retinoblastoma | No Comments »


The importance of knowing your medical history

December 4th, 2006 by janet

I came across a blog post by Jacki Donaldson which emphasises the need to firstly know your family medical history, and secondly, tell your doctor about it.
In particular, this blog post relates to cancer. It made me think of two things.
Firstly, I remembered a recent conversation with a friend who was born with retinoblastoma, the same eye cancer as me. He had two children, neither of whom developed the condition, and they were monitored very closely right from the time they were born. What happened later on was a shock to him. One of his grandchildren was born with the condition. The tumours were picked up when the child was only five months old. It was lucky they were looking out for it, but they didn’t really believe that retinoblastoma could jump a generation. On doing more tests on his children, it was discovered that his son, the father of the RB child, carried the gene. This story shows just how important it is to know your family’s medical history, right back as far as you can go.
The second thing it made me think about was my parents’ reactions when they found out I had RB. They wanted my natural parents to be told, just in case they had other children, for one thing. Well, it didn’t turn up amongst any of my half siblings, but now I know this doesn’t necessarily mean one parent wasn’t a carrier, and that someone else in my family could be. The likelihood is probably very small, but it can’t be ruled out. Adoption always makes these sorts of issues so much more tricky to deal with, and there’s not always an easy answer. And adoptees aren’t the only ones to have these sorts of issues; children born from sperm donation also have this difficulty.
It was easy for the doctors to declare to my parents at the time of my diagnosis that the chances of my natural parents having a child with the same condition were unlikely, because they thought I was the start of the chain. But in reality, this was a poor decision. At the time, though, the technology was not available to do DNA testing to determine if someone was a carrier. So there was no other option at the time.

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Posted by janet Posted in Adoption, Eye Cancer, Genetics, Retinoblastoma | No Comments »