Updated on Jul 2nd 2011 at 2:24 PM from the JustGiving API

Thank you so much to everyone for sponsoring us. Xxxxxxxx

Updated on Jun 20th 2011 at 10:12 PM from the JustGiving API

Thank you so much for donating friends and family!! Lots of love xx

Updated on Jun 17th 2011 at 11:46 PM from the JustGiving API

We are slowly getting close to the £1000 mark. Thank you to everyone that has helped us so far xx

Updated on Jun 6th 2011 at 2:31 PM from the JustGiving API

Thank you so much for donating money to this fantastic charity. We appreciate every penny you help us to raise!! ;) xx

Updated on Jun 1st 2011 at 2:23 PM from the JustGiving API

One month to go. We're getting excited!! Training is going well......please help us to raise as much as possible xx ;)

Thanks for taking the time to visit our JustGiving page.

The three of us have signed up to take part in a 10k run in support of Turner Syndrome, in July. We hope to raise as much as we can to go towards the ‘Turner Syndrome Support Society’, as well as creating awareness of a little known syndrome that is affecting the lives of many girls and their families.

In 2009 our niece and Zoe's daughter Maisy, was born with Turner Syndrome (TS).

Turner syndrome (TS) is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births. Diagnosis can be made during pregnancy or at birth.  However, most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.

Chromosomes are inherited 50/50 from both parents. Normally each cell in the body has 23 pairs of chromosomes which make 46 chromosomes in total. One pair of chromosomes are the sex chromosomes and these determine the sex of a baby. In a male there will be an X and a Y chromosome.  In a female there will be two X chromosomes.  TS occurs when there is only one X chromosome instead of the usual two. The missing X chromosome, (from either the mother’s egg or the father’s sperm) is an accident and is lost during the cell division that follows conception.

Two main clinical features of TS are short stature and non-functioning ovaries. But, other physical features and characteristics of TS can include:

Infertility

Lymphoedema of hands and feet [puffy hands and feet]

Broad chest and widely spaced nipples

Droopy eyelids

Low hairline

Low-set ears

Spoon shaped, or small, or hyperconvex nails

Short fourth toe and short fingers

Web neck

High arch palate [which can sometimes lead to feeding problems]

Short stature

Cubitus Valgus [carrying angle of the arms where it is difficult to straighten the elbow]

Otitis media [middle ear infections]

Hearing problems

Myopia [short sightedness]

Pigmented naevi

High blood pressure

Kidney and urinary tract problems

Coarctation [narrowing or constriction of the aorta]

Thyroid problems

Small lower jaw [can lead to orthodontic problems]

Osteoporosis [due to lack of oestrogen, a result of ovarian failure]

Diabetes

Behavioural problems

Learning difficulties/spatial awareness problems [not mental retardation]

 

Girls with TS may have only a few or several of the features associated with TS, but short stature and infertility are nearly always present. The possibility of growth hormone treatment for short stature and IVF for infertility are options now available to those with TS.

 

It is not the furthest of distances and speaking for myself, I am quite looking forward to it. Zoe, however, has not managed to break into a run since her school days and is yet to own a pair of trainers!! Lee, is also looking forward to the run and between us we have all started the sister banter of who will reach the finish line first.

Training has begun and we will be boring everyone with updates of how far and fast the training is coming along. With luck and providing we all get to the end of this run (Zoe), it will be the first of many ways we hope to raise money for TS in the future. 

Please help us in donating as much as you can for this very worthy charity.