Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

James was born in February, 1984 in NSW, Australia. At around 18 months of age James started having seizures which gradually got worse, starting off at one a week and then down to one every few hours. At first James was diagnosed with epilepsy as his seizures resembled those experienced by a person with epilepsy, but finally someone picked up on his low calcium levels and James commenced treatment for hypoparathyroidism. As hypoparathyroidism is rare in babies more tests were done and eventually it was discovered that James had APECED. His family knew that this meant he was going to get more chronic health problems, but no-one knew when they would appear.

For the next eleven years James had no new symptoms although he seemed to pick up every bug that was going around.

At around 12 years of age, James started to experience frequent, recurrent, gastro symptoms which didn’t away with any treatment. James lost a lot of weight and was unable to go to school during this time. James saw his Endocrinologist and told him about these symptoms. James was sent across the road to the Children’s hospital in Westmead, NSW, where they diagnosed him with Addison’s Disease. James commenced treatment with hydrocortisone and fludrocortisone and returned home after a few days.

Two years later James started to get very thirsty. So thirsty he couldn’t stop drinking which meant that he also could not stop going to the toilet. James lost a lot of weight again. James attended his GP’s office who took one look at him, checked his blood glucose level and sent him to hospital. James was diagnosed with Type 1 Diabetes and started insulin injections.

Sometime after this James developed both Vitiligo and Alopaecia. Then when he was around 18 years old all James’ fingernails started spooning – they were concave instead of convex. James also had absolutely no energy, sleeping for most of the day as well as all night. Another visit to the GP and more tests revealed that James had developed pernicious anaemia.

March, 2008
James has been having increasing problems with his eyesight over the last six months.  He has photophobia, and was having trouble seeing things.  We went to the ophthalmologist who ruled out diabetic retinopathy, said that his eyesight was bad, mentioned corneal scarring and sent us on the way.  I wasn’t happy with this outcome and made an appointment with the local optometrist.  We left that appointment with the knowledge that James has corneal dystrophy, needs to wear glasses and should see a corneal specialist.  We have purchased prescription glasses and sunglasses and are waiting to see what happens next.

November, 2008
Two weeks after James got his prescription glasses they were no longer helping to correct his vision.  We went back to the local optometrist who took a look at James’s eyes and got on the phone to our GP.  The GP rang the closest Eye Hospital and got James an emergency appointment for that same afternoon.  The Ophthalmologist registrar we saw has actually seen other people with APECED.  James got started on a number of drops and saw the registrar a number of times before we moved from Tasmania to Sydney, NSW.  Since being in NSW James has become a patient of the Sydney Eye Hospital and is now on a regime of four different eye drops.

Condition Count
1. Hypoparathyroidism
2. Addison’s Disease
3. Insulin Dependent Diabetes
4. Vitiligo
5. Alopaecia
6. Enamel dystrophy
7. Nail dystrophy
8. Parietal cell dystrophy
9. Keratopathy
10. Candidiasis