Anna: too much, too youngBMJ 1998; 317 doi: https://doi.org/10.1136/bmj.317.7160.756a (Published 12 September 1998) Cite this as: BMJ 1998;317:756
“It's great having you as friends because the chances of us getting ill must be really small.” My good friend was reflecting on a run of illness and injury that we had suffered. It sounded clumsy but was well meant and I hope is true. That was before our daughter, Anna, was born.
Anna was born on 4 August 1997. There was great relief at first as a raised α fetoprotein and a decision to avoid amniocentesis had been lurking in our minds. “She's fine,” I said. After eight days she started vomiting and feeding with little enthusiasm. Overnight on the ninth day my wife called me downstairs to look at her nappy, stained pink with urine. “Oestrogen withdrawal,” I said. The next nappy change was mine and I watched horrified as she passed frank blood in her urine. Suddenly she was ill; pale, clammy, struggling to breathe.
We rang the hospital and set off straight away, poking her repeatedly to ensure she was still alive. The faces on the staff were suitably grim as they set about resuscitation. “Septicaemia and disseminated intravascular coagulation,” they said. Two days later she started to wake up. After a week we took her home. “She'll be fine,” I said. Two days later we were back in again with more haematuria and a purple patch on her leg. More puzzled faces, more possible diagnoses, more concern.
Transfer to the regional centre was arranged and she was displayed like some exotic jewel to an array of consultants. General paediatricians, dermatologist, nephrologist, haematologist, cardiologist, gastroenterologist, oncologist—she had them all puzzled and us quite bewildered. The purple patches extended and then regressed. Investigations showed a probable diagnosis of subcutaneous fat necrosis of the newborn, a rare condition relating to birth trauma or physiological insult. It fitted well with the symptoms and signs and the more times we read the textbook and the papers the more we agreed. It might go on a few more weeks but, “she'll be fine,” I said.
After a couple of weeks of an exhausting stay she came home. Later that night my wife called me down again to show me a distressed child with new purple patches. Livid areas of hot skin much bigger than any previously seen. Straight back in and the weekend consultant felt that it was still in keeping with fat necrosis so we may as well take her home again.
The next two weeks were the worst I can ever recall. More patches arrived, cruelly waiting a hopeful few days before bursting into life. The existing ones started to become necrotic, a smell of putrefaction rising from them. Our daughter was rotting away. We reread the textbooks and it still seemed right. Trying to hold her was futile. She was in so much pain that morphine sulphate was her only true comfort. She was clearly in deep trouble and we felt we had to see someone. The dermatologist kindly agreed and the faces of horror reappeared. Another dermatologist arrived. “This is purpura fulminans,” he said.
Back into hospital for more tests and treatment and another diagnosis. The kindly and wise haematologist explained that Anna had protein C deficiency. “We don't have much of that in general practice,” I said. Success followed quickly as the lesions healed and scarred over. The protein C concentrate from Austria was her lifeline and she changed before our eyes. Five weeks of steady improvement and she was ready for home. We were instructed in the administration of her drugs through her Hickman line and with support and encouragement ventured home again. The next day I won a holiday through a GP magazine. Life was on the move again.
“How could so much happen to one so young?”
The giving of protein C became part of our daily lives. Any old table would do. 1998 beckoned teasingly, another fresh start. For some time I had been certain that her left hand did not function properly and assumed that she had had a cerebral event. I convinced the haematologist to let us see a neurologist for confirmation and planning some physiotherapy. Within minutes of meeting Anna he agreed and reassured me of the mild nature of the deficit. I relaxed. “Does she see you okay?” he asked. Misunderstanding him, I muttered something about her not seeing me as an individual but that yes, I thought she could see. “I don't,” he said. Explanations were given and quickly forgotten, leaflets on cerebral palsy thrust in my hand with pictures of smiling children in wheelchairs. Stunned and numb I drove home to try to explain to my wife the outcome of our visit. Words came and tears followed quickly afterwards. “You can't be like this all day Mummy,” said James, aged 3.
We had been getting used to the protein C problem and had anticipated some motor delay but this was utterly devastating. How could so much happen to one so young, so helpless? Gradually we started to cope, even laughing wryly when we might otherwise have wept. More appointments, more tests were needed. The visually evoked potentials were rendered useless by a grossly abnormal electroencephalogram. More labels—subclinical epilepsy this time and Anna was started on vigabatrin, before any tales of visual field defect had emerged. Socially, we grew in confidence, only finding it hard when meeting new people and feeling obliged to explain Anna as if we have to justify her existence.
And now she is 1 year old. To others she may be blind, physically handicapped, frustrated, and tugging at her Hickman line. Anna, our precious Anna, through our eyes is a happy, responsive, beautiful daughter, loved, treasured, and cherished beyond imagination. She has her problems but “she'll be fine.”