Health: Our darling, but not the daughter of our dreams: Two-year-old Eleonore suffers from a very rare disease. Robert Spigel is her father

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Indy Lifestyle Online
POOR OLD Eleonore Caroline Jennifer Spigel. She's got a first name that nobody can pronounce properly, a surname no one ever spells correctly, and now we discover that she has a genetic disorder that hardly anyone has heard of. What a start in life.

Elly is our third child. Nothing in our separate family histories, nor during the pregnancy, prepared Jacky or me for the shock. The routine pre- and post-natal checks all gave us reassuring nods. In her 20th month, however, Elly was diagnosed as having Pallister-Killian syndrome.

We first suspected something amiss a couple of months after her birth when she still did not make direct eye contact. She looked right through us. To Elly her parents were invisible.

Visits to neurologists, ophthalmologists, geneticists and general practitioners culminated in our being advised that the cause of Elly's poor sight (and generally floppy condition) was interesting, serious, but unknown. Brain scans, blood tests, X-rays: none yielded any clues.

Only after a second skin biopsy was the disorder confirmed. A skin biopsy is the only way this particular disorder can be detected.

Pallister-Killian syndrome, named after the researchers who first identified it, causes severe developmental problems, both mental and physical. We have been told that there are around 60 such cases in the world. Some comfort: though in my more snobbish moments I casually emphasise this point, conferring dubious status on my family. We really are something special]

A complete list of symptoms makes depressing reading. Just take a look at a few phrases from the journal of the Zurich Institute of Medical Genetics: 'localised alopecia (hair loss) . . . hypotonia from birth (lack of muscle tone) . . . severe to profound mental and motor retardation . . . many are bedridden and almost all will not talk or become continent'. Oh yes, and 'supernumerary nipples are quite common'.

Happily, Elly is not grossly disfigured. A faint mark near her armpit is the only sign of a 'supernumerary nipple'. She has uneven hair growth but a wide bald strip is now growing out. In fact most of her abnormal features are just slight aberrations: slight puffiness on hands and feet, slightly slanted eyes, ears set slightly lower than normal and a slightly fuller bottom lip (quite cute actually). Elly's gothic-arched palate makes an excellent hidy-hole for unwanted food. Her neck is short, with excess skin (webbing) at the back.

Elly is partially sighted and her hearing is impaired. Her mental capabilities are not yet clear. No specific behavioural problems are forecast, but she is likely to suffer more than most from breathing and heart complaints.

Thankfully, the disorder is not hereditary. Our two sons take

no extra risk if they decide to have children: a meagre reward for

all their courage and patient understanding.

Despite the all-embracing grip of her syndrome, at two years old Elly is making remarkable progress. Her muscles and sense of balance have strengthened sufficiently to enable her to sit unsupported on the floor and on her little red chair. She concentrates when playing with bright, noisy toys, her hearing aids flapping gently as she nods her head. On good days she can be led to take forward steps. Temperament allowing, she picks up and chews sandwiches and grabs her mug. What she lacks in table manners she makes up for in enthusiasm.

Elly's development, as well as our sanity, is due in equal measure to our lovely nanny and Haringey's health and childcare services. We belong to the Family Support Group for children with disabilities, a north London self- help organisation run entirely by families, and our involvement has given us the strength to cope with our reluctant entry into the world of attendance allowance, orange car-stickers and flexible leg

supports.

Eleonore is not the girl we wanted. She is not the daughter of our dreams. She is a burden. We are afraid of the future. But she is our darling child and we are trying all we can to give her a fulfilled life within a loving family - ours.

(Photograph omitted)

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