Where do I even start? A very rare genetic disorder, mutation. Most people, in fact most of the world have never even heard of it. Statistically 1 in 500,000 or even less people are born with this genetic mutation.
It is caused by a deletion in a gene called the NEMO gene. A deletion of the middle part/or parts of this gene. People can carry the faulty gene and not be aware they have this disorder because they have 0 symptoms. They are the lucky ones....like me apparently. In those with no symptoms, the X Chromosome can kick in with the healthy Nemo Gene being used, while the other X Chromosome carrying the faulty gene, stays inactive. In my daughter, as she had the worst symptoms, the X chromosome with the faulty Nemo Gene that was inherited from me was the prominent gene, she was unlucky.
The symptoms of IP can be so varied, it's a disorder with so many faces. Usually symptoms are skin problems and pigmentation's and other external symptoms affecting hair, nails and eyes, in most cases people with IP live quite normal and happy lives and symptoms remain benign.
Usually girls have IP, men rarely do as they only have one X Chromosome.
A very small percentage of those with IP have CNS problems and in even rarer cases they develop seizures (approx. 1 in 10,000.000).
In most cases these are usually stopped with regular seizure medications.
In my baby's case, they didn't.
Her seizures got worse.
They got worse to the point she couldn't continue living.
I hate seizures.
I hate Incontinentia Pigmentia.
For more information and ways to donate so that more can be discovered about IP:
