Diagnosed with APS 1

Dear Doctor, our 10 yr daughter has been diagnosed with APS 1 when she was around 6 years (after 2 years of illness). Now she has alopecia, HP, rtinopathy (not keratopathy, is there a difference?), and candidiasis on one of her finger. So far she has been stable, although she has sublevels of adernelin. My questions are rather basic: Do you think that genetherapy can be an answer? And how can we explain to her the complexity of her illness without worrying her too much? My husband is a pediatrician and he finds it hard himself as he is also the father. And finally, what is the prognosis for children with this illness? What kind of life can they lead? Thank you for your answers. A worried mom, Norway

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Posted by dr at July 30, 2008 03:05 PM

Happily most children with APS-1 can lead fairly normal lives. The prognosis for the disease continues to improve as the component diseases are better identified and treated. You should make sure that your daughter is vaccinated against strep pneumoniae as many patients have splenic dysfunctions making them susceptable to this organism. In girls, pubertal development is usually incomplete and needs hormonal replacement. Infertility is unfortunately the rule. I presume that your daughter has been screened for the diseases of APS-1 that require treatment? Please let me know if this has not been done by your doctor. Your husband should consult an endoclinologist with experience with this rare disease to manage her and he should be her unambiguous father. Adrenalin levels are normal in APS-1, however cortisol levels are often low. Has she had a 21-hydroxylase antibody test done? Since the gene for APS-1 has been discovered, the long term hope in tha! t one day, gene therapy may provide an answer. However today, the disease can usually be well managed with greatly improving long term prognosis.
Kind regards,
Noel K Maclaren MD

APS Type 1

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