Down Syndrome Research Foundation

Hayey Goleniowska,
creator of www.downssideup.com

I'm Hayley, the Mum of 2 beautiful girls, the youngest of whom, Natty, has Down's Syndrome.  I've been asked to share my thoughts on the work that the Down Syndrome Research Foundation do.

When your baby is born with any kind of health issue or disability, the first hurdle you are faced with is coming to terms with the news, which is often a great shock. Bonding can often be compromised at this stage, as parents mourn the healthy baby they were expecting before they move on to accept and love the one they have.  They must all wonder at some stage too, whether they are up to the challenge of bringing up a child with additional needs. Your mind is filled with worry and fear and guilt. Will the baby survive? Is she suffering? Would it be better for her if she didn't survive?

I don't recall looking much beyond this initial stage when Natty was born, beyond the holes in the heart, the surgery on the horizon. But one thing was for sure, I knew that the medical teams available to her were second to none, and that the procedures they had at their disposal were the very finest around.

Over the first year Natty won our hearts, learnt to breastfeed despite being initially tube-fed and grew stronger, despite frequent visits to hospital with upper respiratory infections or pneumonia.  Each time she was treated expertly, with an open-door policy befitting of her vulnerability. We never once doubted the knowledge and resources behind the medical teams.

As Natty flourished and was ill less often, I suppose our focus turned to her developmental milestones, helping her crawl and walk , babble and talk.  These were the areas that would make her like any other child and all this she has done with a little extra help and patience, but her legendary aplomb.  She is a little whirlwind, who grabs life with both hands and is now reaching her full potential in all areas; reading, writing, making relationships, riding, swimming, even clothes modelling.  But we need to make sure that this always remains the case. We now need to turn our attentions to what lies ahead of us on this road less trodden.

This is where the charity DSRF do amazing work.  Because it is the health issues that our children might face as they grown into adults that perhaps need more understanding and research.  They are first and foremost our children, not a medical group, but many conditions are common to people with Down's Syndrome and it is those we need to understand more fully if our younsters, that have got off to a flying start are to continue to soar.

Personally, I would like to understand the prevention, detection and treatment of Thyroid problems, coeliacs disease and diabetes, particularly sub clinical cases.  Can any of these be headed of with a preventative diet for example?  I have dabbled in the use of dairy and gluten free diet when trying to reduce musuc and associated glue ear.  It seemed to work and head off an operation to insert gromits at the time, but 'seeming to work' is hardly empirical evidence is it. Was it coincidence or is this a really useful tool for children in that situation?

Likely eye disorders have been mentioned by our opthalmologist with little or no explanation, and I would like to know if my child should be being tested regularly for Leukemia.

I am also fascinated by the infuence of nature versus nurture on the development of all children, but particularly those with DS.  How much of their IQ is determined by the extra chromosome, and how much by external factors such as diet, family and upbringing, even vitamins and supplements taken by a mother during pregnancy, or in a concentrated for in later life.  I don't know of any longitudinal studies covering such a vitally important area.

Most of all, I fear early onset Alzeihmer's for Natty, and I welcome recent research into the genetic causes of this form of dementia in adults with Down's Syndrome.  If safe medication could be found to ward off this degenerative condition, I can't think of many families who wouldn't welcome it. I hope that the DSRG can help bring about pioneering trials in this field.

As I look forward to our daughter's future I would love to see a time where all her health needs are met fully.  Wouldn't it be wonderful to see specialist nurses or support workers, trained to work with adults with learning disabilities, available to all.  They would be there to draw all strands of the medical profession together, to mediate and work between the patient and their medical professionals, able to converse in Makaton, explain new or strange concepts, and the reasons why regular checks for chronic diseases and routine tests such as cervical smears are done. Their job would be to bring the patient to those appointments as necessary.  

All this is vital if we are to support independent living for adults with Down's Syndrome, leading them towards happy healthy lifestyles. After all it is that extra little chromosome that gives our children the extra factor. Let's do everything we can to preserve that.