X-linked reticulate pigmentary disorder

with systemic manifestations
Alex's story
Administrator 28 January 2011 PDF Print E-mail

alex-01Patrizia is an Italian mum. Her son Alex (born 2008) is sick with XLPDR.

She tells us her story:

 

 

My son Alex, almost 3 years old, suffers from  X-linked ReticulatePigmentary Disorder with Sistematic Manifestations, a true rare disease. Only other five cases are known in the world.

The purpose of this story is to reach other families that share the same problem. The hope is to collect as many information is possible and to share them with people in the same situation.

Please share this story with your friends.

Here my son’s story:

I was pregnant for the second time, and I had bad sensations since the beginning of the pregnancy.

First problems came with the breast feeding: when he started sucking, he also started writhing in pain, until, exhausted, he felt asleep. Then, while sleeping, he finished  his feed.

 

 

Everyone was used to say that I was the problem, with my anxiety, my fears. That’s why my sense of guilt was everyday growing.

 

 

At the age of two months he was taken into hospital because of a respiratory infection. During his stay in hospital, his ailment and sufferance was growing. I was posing questions to every physician, but the answer was always the same: The problem was me. We went back home, but after two weeks he was rushed again to hospital, because of bilateral pneumonia. Physicians made lot of tests, but with no results. When back home, troubles where still there. We made lot of tests, we visited lot of physicians, but the result was always the same: they thought and told me that the problem was me. They thought that my baby was totally sound and that,

With the time I learned that my son was annoyed by strong light, particularly by the sunlight. He was feeling better at home, with faint light. And, too, he didn’t perspire.  Or, better, he only perspired from his head. That’s why he didn’t stand the heat. I learned to take him outside more in the evening than during the day.

He was six months old, and I thought that problems were under control.

But he began to lose weight, his glance was glassy, his colour pale. I started again to take him to some paediatrists, with no result.

At last he stopped to eat and drink., he began vomiting and his crying was restless. We rushed him again to the hospital, and they took him to the emergency room and then to intensive care. His blood figures were not compatible with life. Alex went into coma. At the end of further tests the diagnose was “ACTH Deficit”, a rare disease, but not serious. It was possibile to live quite in a normal way. We went on with eitghteen months of hydrocortisone but with no result. We had to run so many times to the hospital and I decided to change hospital and physicians. In the meanwhile

Alex’s skin changed. It was darker, dry, with a lot of white little spots. And, at last, I had the verdict: X-linked Reticulate Pigmentary Disorder with Sistematic Manifestations.

Consequences are:

  • Photophobia
  • Thermoregulation troubles
  • Poor sweating
  • Growth retardation
  • Renal problems
  • Calculosis
  • Urinary infections
  • Respiratory infections
  • Gastrointestinal troubles

Alex presents almost all those problems. Unfortunately at present there are no information about this disease and there is a big lack of medical reports.

I hope that my story will help parents that share my same situation. They have to be strong and to resist to physicians when they just talk about

anxiety and psychological problems. We’re not paranoid, we are people with true problems, and our children have true disease. A disease that physicians don’t know and should study.

 

see Alex' pictures

 

Patrizia Gentile