hen Hayley Williams-Eiselt was born in 1978 with the genetic disorder Phenylketonuria (PKU) it was so rare that King Edward VII Memorial Hospital had been considering stopping automatically testing babies for it.

When the PKU test came back from Boston, the hospital didn?t believe the positive result and sent it on to California to make sure.

People with PKU are unable to utilise the essential amino acid, phenylalanine. Amino acids are the building blocks for body proteins.

?Essential? amino acids can only be obtained from the food we eat as our body does not normally produce them.

In ?classic PKU?, the enzyme that breaks down phenylalanine phenylalanine hydroxylase, is completely or nearly completely deficient. This enzyme normally converts phenylalanine to another amino acid, tyrosine.

Without this enzyme, phenylalanine and its breakdown chemicals from other enzyme routes, accumulate in the blood and body tissues. Without proper treatment a baby could be severely brain damaged.

One in every 10,000 to 20,000 Caucasian or Oriental newborns test positive for classic PKU. The incidence in African Americans is far less.

These disorders are equally frequent in males and females.

?The doctors came back and said it can?t be true,? said Mrs. Eiselt?s mother, Kathy Williams. ?It had never happened.

?Then the doctors and nurses went into a panic because none of them knew what to do next.

?They?d never dealt with anyone who had actually been diagnosed with it.?

PKU is more common in people of Irish descent, so Mrs. Eiselt?s doctors telephoned a specialist in Ireland.

?They flew in the food she needed a couple of days later,? said Mrs. Williams.

?We couldn?t find it at first.?

When their daughter was six months old, the Williams family travelled to Ireland, to meet with specialists and other families with PKU.

Today Mrs. Eiselt is a trainee broker at JLT Risk Solutions.

Since she was born 27 years ago, there has only been one other baby born in Bermuda with PKU.

Growing up, it wasn?t until she went abroad to summer camp that she ever met anyone else with PKU.

This week, she was particularly excited to welcome 14 American children with PKU and their families to Bermuda on a cruise ship.

?We are part of a group of New England families who have really grown up together because of an organisation we are a part of, ?The New England Connection for PKU and Allied Disorders,? said one of the visitors Lynn Paolella of Boston.

Mrs. Paolella and her husband David have two children with PKU and one without it.

?We do events. I am one of the event?s chairpeople.

?We co-ordinate different holiday get-togethers, whether it is a Christmas party, or apple picking.?

Another parent, Donna McGrath, said she had originally been planning to come to Bermuda as a graduation present to her two daughters.

?I figured this may be the last time the family would be taking a vacation together,? said Mrs. McGrath. ?I then proceeded to ask other PKU families if they wanted to join us since I would have to make arrangements for someone to cook for my children.

?It then took off from there. It is mainly all the families that have been getting together at the Snowy Owl Inn in New Hampshire for the last four years.?

Mrs. McGrath said many lasting friendships had developed between parents and children in the group.

Mrs. Paolella met Mrs. Eiselt through an on-line internet PKU mailing list. The group decided to meet with Mrs. Eiselt at her husband Holger Eiselt?s restaurant, H20 on the second floor of the Washington Mall.

?H2O restaurant upstairs of the Washington Mall is completely separate from PKU,? said Mrs. Eiselt. ?but the good thing about H2O is that we cater to a lot of dietary needs. My husband Holger, who is a chef, has dietary needs of his own such as needing things dairy and wheat free. There is a buffet so they can pick from that what they want. You can really come here and get soy milk, rice bread and rice pasta in addition to ordinary things.?

She said it was good to see the children together, because PKU is so rare.

?I have learned through the years how many metabolic children feel so completely isolated because they have never known another PKU affected child,? said Mrs. Paolella. ?We learned early on that by bringing our metabolic families together, it would provide the much needed support that would and has allowed our children to grow with the dignity and confidence they so deserve. Through the years, our New England families have made a wonderful connection. We have grown together, supported each other, planned events and raised money for research together. PKU has translated to be a very positive experience for those we?ve met, learned from and taught along the way.?

Mrs. Eiselt said the genetics of PKU can be hard to predict. Not every baby born to PKU carrying parents would necessarily have it. ?I am a carrier of the gene,? she said, ?but if Holger and I had children then there is a fifty fifty percent chance that we could have children with PKU. My children would definitely be carriers.?

Mrs. Paoella said when her child was first diagnosed with it, she?d never heard of PKU.

?We were devastated to say the least,? she said. ?We didn?t know what it was. I phoned my husband. The one thing that new parents remember in their minds is mental retardation.?

According to Mrs. Eiselt severe or classic PKU, if left untreated could result in mental retardation over a prolonged period.

?We found out probably about a week to two weeks after my son was born,? said Mrs. Paolella. ?My child hadn?t been sick at all within that period. Once we found out he had tested positive for PKU he had to be retested to make sure it wasn?t a false positive.?

Mrs. Williams and her husband John had a similar experience when they found out their daughter had the disorder.

?A great deal of worry went into it,? said Mrs. Williams. ?We had a precious baby and we wanted to make sure we did all the right things for her. It was very tough as a mother, and not having the support in Bermuda.?

She said that once she got over the shock of her daughter?s diet, her mission in life was to see that her daughter grew up strong and healthy.

Once children are diagnosed with PKU they are put on a special diet that limits proteins, and there is almost a amino acid formula that they have to drink every day for their entire lives.

Mrs. Williams said when her daughter was a child the formula was awful, but since Mrs. Eiselt was 12 years old, it has improved and now comes in different flavours.

?The study of PKU is ongoing and therefore it is essential for all PKU patients to maintain proper controlled diets and the prescribed applicable to each individual patient,? said Mrs. Eiselt.

?Hayley probably rebelled a little bit when she was six or seven years old,? said Mrs. Williams. ?She became very angry about having to eat differently. We spent a lot of time with Hayley. We never said ?poor Hayley, what a shame?. We always accentuated the positive. We told her ?aren?t you fortunate that you are being treated, and how lucky you are that you can do lots of things?. As quick as anything she was over it and accepted it. She was very disciplined.?

Eating out at restaurants was always difficult, and Mrs. Eiselt was limited to things like pastas, salads and steamed vegetables.

?Hayley attended the Bermuda High School for Girls. They were brilliant,? Mrs. Williams said. ?We sat and talked with the teachers and they were marvellous. Fortunately, the students took lunch boxes, and the teachers kept a careful eye on her. Once, she did switch food, but the teachers dealt with it and I thought that was enough. My family were originally from Ireland and John?s family were originally from Wales. There is PKU in John?s family, but I don?t know of any in mine.?

?We are so proud of her today,? said Mrs. Williams.