My name is Gabriele Hanauer-Mader. Several years ago I initiated the self-help group Familial Hypercholesterolemia in Children and Young People with the friendly support of Professor Widhalm and his team. On the occasion of upcoming EAROC-Symposium I would like to shortly talk about the interests and concerns of parents with children suffering from FH.

My 8-year-old daughter was diagnosed with FH at the age of 2. As FH has been known in my husband’s family and as my husband had suffered a heart attack at the early age of 33, it was only natural and highly important for us to have our daughter screened for FH as early as possible. Thankfully, our paediatrician initiated a blood test and, although we had been aware of the risk, it was still a shock to us to learn that our daughter suffered from a severe type of FH as well.

Her original untreated total blood cholesterol level was at 520 milligrams per deciliter, her LDL blood cholesterol level at 455 milligrams per deciliter. Thanks to our very attentive paediatrician we were immediately sent to the right address: the Medical University Vienna and its department of Paediatrics and Clinical Nutrition headed by Professor Dr. Kurt Widhalm. On this occasion I would like to thank Professor Widhalm and his excellent team for the very professional and committed assistance we have been experiencing there for many years.

Thanks to a low-fat diet, the intake of soy products and last but not least the right medication starting right from the diagnosis in 2003, my daughter has much better cholesterol levels now. The last blood test accounted for a total blood cholesterol level of 219 as compared to the original level of 520, and an LDL level of 148 compared to the original level of 455.

Apart from regular blood tests and ultrasound measurements of the Intima-Media Thickness my 8-year-old daughter lives a totally normal life. Clinical examinations have not shown side effects of the medication so far.

That is why I would like to stress the immense importance of early diagnosis of FH on behalf of all the children that suffer from FH without knowing – and also the tremendous importance of awareness-raising campaigns on FH all over the country.

I believe it would be important to have children screened at an early age already – as infants in the context of the so-called mother-child booklet, a health care program for infants and toddlers we have here in Austria, in kindergartens or in the context of school-entrance medical examinations at the latest because many of the children affected are diagnosed very late or not at all.

I personally believe it is also very important for parents or parents-to-be to check their family histories for a strikingly high rate of heart attacks or coronary heart diseases at an early age (before 55).

Through the self-help group I have met many parents in Austria and Germany who were very shocked about the diagnosis FH in their children. They could not explain to themselves why their children were suffering from FH. However, whenever I asked them whether there had been coronary heart diseases in the close family, they almost always answered with yes. Unfortunately many parents still don’t see the connection or correlation. And it is exactly here where awareness-raising campaigns have to start, including also general practitioners and paediatricians.

But we need financial means for that! And considering how much money has recently been pumped into the economy by the State in order to counter global recession, an investment into national health would probably cost much less. And more money for the prevention of later cardiovascular diseases – also for genetic diagnosis in context with FH – would in any case cost less than treatment following a heart attack or bypass surgery.

And it must not happen that public health insurances refuse to grant low-cost prescription of vital medication for cost-cutting measures – as it recently happened to my husband. And it must not be that patients with chronic disorders and diseases need to prove for hours or even days to public health insurances that they really need a certain medication. This, thank God, has not happened to my daughter yet. But who is going to guarantee me that she will receive the necessary medication as an adult?

In this respect I would also like to stress the enormous significance of well-directed lobbying for chronically ill children. Children do not have lobbies of their own. They are the weakest in the daily fight for financial means. That’s why it is even more important that physicians and parents organizations dedicate themselves to lobbying for children. If we neglect the disorder FH in children, we might have to experience severe consequences for public health in the long run.

As a last point I would like to direct the following words to parents of FH-children: As shattering as the diagnosis FH in your children might be in the beginning, you can live with the disorder by being aware of it. Children are very flexible when it comes to adapting to new circumstances, be it a new diet or regular medical check-ups. But we, the parents, have a tremendous responsibility as role models – we have to exemplify through our own lives what it means to be aware and to live healthy.