Incontinentia pigmenti is a rare genetic disorder with very few research available. Annebelle was born a perfectly healthy nine pound baby, when she was four days old we took her back to urgent care because she had not eaten in over 8 hours. While we were there she was ambulanced to a bigger children’s hospital and we found out that she had been having dozens of seizures just in the short amount of time since we brought her in. During her NICU stay she was diagnosed with epilepsy and incontinentia pigmenti (IP). We knew that there was a possibility of her having IP because it runs in my side of the family, but no known relative has it quite as severe.
IP can present itself in many, many different ways. Some patients with IP go on to lead perfectly normal lives while others are severely effected. IP can cause epilepsy, heat intolerance, feeding problems, brain damage, cerebral palsy, a broad spectrum of neurological and skin disorders. IP is caused by an x-linked chromosome defect, most children are born with a blistering rash that is present at birth or shortly after (although Annie didn’t) and followed by a wart like skin growth. People with IP have brown/gray patches or “swirl” patterns covering their skin, other signs of IP include alopecia, dental abnormalities, and eye abnormalities. Less common signs include epilepsy, developmental delays, pulmonary hypertension and neurological problems.
Incontinentia Pigmenti caused extensive damage in the left hemisphere of Annebelle’s brain and part of her right hemisphere. Because of this she has also been diagnosed with focal epilepsy, triplegic cerebral palsy, global developmental delay and refractory infantile spasms. In her life she has been prescribed a whole plethora of medications, including: Phenobarbital, Keppra, Topomax, Prednisone, ACTH injections, Sabril, Onfi, Trileptal and the Ketogenic diet. She is under consideration for surgery to correct her hip dysplasia and possibly epilepsy surgery. Annebelle has numerous specialists to oversee her care, including a neurologist, gastoenterologist, ophthalmologist, geneticist, dietitian, physiatrist, physical therapists, occupational therapist, and feeding therapist.
While IP is a genetic disorder and is inherited it is also possible to have spontaneous mutation and be the only person in your family with the disorder. A woman with common IP has a 50% chance of passing on the mutation, and while girls will survive males will not. Because IP effects the X chromosome it is not possible for effected males to survive with the disorder and usually die in utero, but this rule does not apply to males with a spontaneous mutation.
IP has turned our lives upside down, but we have adapted and turned it into our new normal. For more information on incontinentia pigment visit www.ipif.org, follow our story at www.instagram.com/abplusme and help us #normalizedisabilities