My daughter danced with S during her first ballet class. Both girls were the same age, same height, similar weight, and overall size. They moved as gracefully as five year olds do in ballet. In the lobby, all the mom’s chatted in the waiting area; sharing similar stories of tantrums, school choice and of course ooohed and ahhhed over our precious ballerinas. My daughter Bella and S quickly became friends. One day B mentioned S’s “stripes” and asked me if she was hurt. I had never noticed them.
The next time we had a playdate, Bella and S were playing dress up and Bella said “Look Mom, these stripes” pointing at her young friend. S’s mother quickly assured B that these were her special lines; she was born with due to a rare genetic condition called Incontinentia Pigmenti (IP). S was born with IP, a genetic disease of the skin, hair, teeth, breast’s, and central nervous system. S’s mother quickly showed me her “stripes” which can resemble a dark striped line; similar to a stretch mark but in patterns of a marbled stripe.
S’s mom explained she was unaware that she even had the disease until her daughter was born. Shortly after S’s birth, she developed progressive rashes. LINK When S was just 5 weeks; both mom and daughter were confirmed to have the rare diagnoses and disease of Incontinentia Pigmenti. This was confirmed through bloodwork at Baylor College of Medicine DNA Laboratory.
The family soon learned the prevalence of IP is unknown, as is often the case with rare disorders; it is likely that IP often goes undiagnosed or misdiagnosed. Common physical characteristics can be seen on the Skin, Hair, Teeth, Nails, Eyes, Nervous System, and Breast.
Males with cannot survive without a functioning NEMO gene, and thus die in utero.
In females, some cells have a normal functioning NEMO gene (from the normal X chromosome) while other cells have a defective NEMO gene.
A woman with IP has a 50% chance of passing on this gene to each of her daughters. For male fetuses, of the 50% who inherit the IP gene, the great majority will result in a spontaneous abortion (or miscarriage) as IP is nearly always lethal in a male fetus. But for extremely rare exceptions, any live born male will be unaffected. In this family’s case, the latter was true and S has a healthy younger brother J.
It can be a devastating experience for parents to be told that their baby has IP. When a child has a rare disease, close personal contact among families and friends can provide emotional support and lessen the feeling of isolation. Families can gain support and resources worldwide through the national database of health professionals, with expertise in IP, to help direct individuals to appropriate medical resources and consultants.
You can follow the IP organization IPIF in addition to their own organization page, they also have a WORLD Facebook page
The National Institutes of Health (NIH)
Baylor College of Medicine DNA Laboratory
Please Join the IP movement as they struggle to gain a solid explanation for this rare disease through collecting samples made possible by the support of the World Wide Incontinentia Pigmenti Genetic Biobank; containing DNA samples from subjects affected by a rare disease