Our life with Jonathan
- Correspondence to:
Dr H Marcovitch, Syndication Editor
BMJ Publications; h.marcovitchbtinternet.com
Our son Jonathan was born in the summer of 94. The second of three pregnancies, there was nothing to suspect that there might be anything amiss, but this little boy’s fate was set in his DNA.
Fiona Fisher writes that she hopes her article touches our hearts. That excellent text, “Forfar & Arneil”, tells us that in Lowe syndrome treatment is supportive and parents may benefit from contact with other affected families. I hope those treating multiply disabled children might benefit from considering what Fiona Fisher tells us.
He was born at term with bilateral cataracts and low muscle tone. He had his cataracts removed around 1 week old and contact lenses fitted a week later. He failed to thrive and was put on a calorie supplement. A false diagnosis of mosaic trisomy 18 was given to us, a laboratory artefact created by the staining process. After a year of severe developmental delay, his kidneys were noted to have Fanconi’s syndrome, renal tubular acidosis. The jigsaw finally fitted together and …
