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Points for Reflection

1. “A mother’s instinct”. How do you deal with such situations where a mother has wanted her child to be tested for a condition, against the wishes of the medical professional? Who do you think has the right to decide?

2. “…some people feel a label is not always a positive choice…”. Discuss the pros and cons of this.

Activities

1. Discuss possible explanations for Leanne’s son’s severe speech delay. What support would you suggest?

2. What credible sources of information would you direct parents too?

3. Leanne describes her daughter’s condition as mosaic Turner syndrome with the karyotype revealing 47, XXX and 45, XO cells. Draw a simple diagram to explain how this could have arisen during cell division (mitosis) of the embryo.

Quotes

"My grandmother always believed in a mother’s instinct."

"Our despair after appointments was hard to handle and it began to cause major turmoil. … We all felt lost and confused."

"I know some people feel a label is not always a positive choice but in our case, it has been a wonderful help. … It has given us more patience and understanding as a family and made us so much stronger."

"Throughout my unfinished journey, I have learnt to follow my instinct and fight for my children’s rights for recognition."

Further information

Turner Syndrome support Society: http://www.tss.org.uk/

Information Sheet from Guy’s and St Thomas’ Hospital on Turner syndrome for professionals and patients and families.

UK National Library for Health, Genetic Conditions Specialist Library website: Turner syndrome briefing and Triple X syndrome briefing.

UK Intersex Association: http://www.ukia.co.uk/

US National Library of Medicine, Genetics Home Reference: Turner syndrome and Triple X syndrome.

Child Growth Foundation: http://www.childgrowthfoundation.org./

UK National Library for Health, Genepool: Autism briefing

Autistic spectrum disorder family information sheet from Great Ormond Street Hospital available to download and read online.

National Autistic Society: Diagnosis - a brief guide for health professionals

Antenatal Screening Web Resource: AnSWeRhas other personal experiences of Turner syndrome.


Location: The Stories
Transcript

You can download the full transcript here

Leanne’s story: Journey to a diagnosis
Mosaic Turner syndrome - a mother’s account

My grandmother always believed in a mother’s instinct. I never really took much notice, until recently. It is the basis of my story and the reason we finally reached a diagnosis.

Our journey as a family began with the birth of our second daughter. She was tiny but appeared healthy. However, her puffy hands and feet were overlooked. As time went by and all areas were problematic, stress levels elevated. It was evident something was very wrong. Hospital and doctors’ appointments took over the calendar. Developmental delay was a favourite conclusion – one that left us with no reason for our daughter’s many difficulties. Our despair after appointments was hard to handle and it began to cause major turmoil. We saw so many different professionals all noting delay and behaviour problems. We all felt lost and confused. I started researching anything and everything.

We moved from North to South and tried again for a diagnosis. Failures lead to an exhausted determination. After a few months, we gained our energy levels back and strove for another opinion. A referral to a well respected doctor ended with an answer. A karyotype blood test revealed “triple X syndrome” and “Turner syndrome” giving our daughter “mosaic Turner syndrome”. Reading both syndromes was like studying a map of our daughter’s character and problems. The sleep disorder and autistic behaviour could now be accounted for. Her growth, co-ordination delay and specific learning difficulties now had a reason.

I know some people feel a label is not always a positive choice but in our case, it has been a wonderful help. A missed diagnosis can lead to psychiatric concerns, along with untreated learning difficulties. No one wants that for a loved one. It has given us more patience and understanding as a family and made us so much stronger.

Doctors can be reluctant to request genetic testing. Family structure and values should be taken on board. We have a very structured home life and provide much stimulation. Some professionals, in my experience, focus on the problem behaviour as being triggered by bad parenting. This was not the case for us.

My feelings towards the NHS are very mixed, some good and some bad. I feel there is a need for more research, especially in epigenetics. We have another child with developmental delay, which just seems all too familiar. Our younger son has significant delay in speech. A “karotype” blood test has come back normal but we still can not help feeling there is some sort of connection.

Once again, I am left to throw myself into research. Throughout my unfinished journey, I have learnt to follow my instinct and fight for my children’s rights for recognition.