I commute from Carlow so breakfast is often coffee in the car. Jack, my 10-year-old, is usually still asleep when I set out.
I devote the first hour to responding to emails and voicemails. Some are from parents checking appointment times at our new neurofibromatosis clinic in Tallaght.
We provide assessments for children diagnosed with or suspected to have neurofibromatosis, a genetic condition that can cause tumours and can affect the development of bones and skin.
I head to outpatients where the clerical staff alert me when patients arrive. Three or four check in at a time and for ophthalmology, dermatology, orthopaedics.
I measure the patient’s height and weight and blood pressure before bringing them to the ophthalmologist.
Lesions that look like freckles on the eyes called Lisch nodules are a clinical sign of neuro- fibromatosis, which is passed down by a parent in about 50% of cases and the result of a spontaneous gene mutation in the remainder.
The Neurofibromatosis Association of Ireland will launch its Neurofibromatosis Fighter campaign on May 17.
The campaign will celebrate neurofibromatosis fighters in Ireland — patient, doctor or parent. Nominations are open now on www.nfaireland.ie
A dermatologist assesses a patient’s skin. Another feature of neurofibromatosis is ‘cafe au lait’ spots — six or more large, flat, brown freckles, as well as neurofibromas (lumps and bumps) on the skin.
The growths can very rarely become tumours, which is why a yearly review, which the clinic offers, is important.
The consultant paediatrician examines each patient for curvature of the spine. Scoliosis can be a feature.
A third of those with neurofibromatosis1 will have one or more medical complications in their life and mild learning difficulties are common. Neurofibromatosis2 is rarer.
Clinic ends and we break for lunch.
I update the patient, keeping track of who has attended and organising follow-ups.
I head home to Jack and the dogs and we go for a walk.
Patricia Hynds, neurofibromatosis nurse, National Children’s Hospital, Tallaght, Dublin
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