ABOUT MY SISTER WHO WAS BORN WITH INCONTINENTIA PIGMENTI

My sister Chloe came into this world on the 8th April, 2002 by cescarian weighing a healthy 7.5 pound at 38 weeks. Wow i must say out of all of us mum had a pretty easy pregnancy with her.

After our brother Nicolas was born, mum was told by her Obstetrican she should not have any more children because her Uterus was now very weak and could burst during pregnancy putting her life at risk . After years from suffering from endometriosis, poly cystic ovarian disease and having 2 major operations separating her ovaries from her bowel, had caused adhesions to stick to certain repoductive organs had been told she could have trouble falling pregnant before she had any of us. Amazing we even made it into this world after all.

When mum fell pregnant with Chloe, grandma, poppy and daddy became concerned because of the complications that could arise with this pregnancy.
Mum and dad mulled over the idea of having a termination as soon as she learned she was pregnant again and had even gone so far to make an appointment to do so, but mummy backed out at the last minute after speaking to her obstetrician who informed her it was a risk, but would place her in the high risk clinic at the hospital and monitor her more closely than before, where she had to do the same whilst being pregnant with Nicolas, though this time it was more risky.

Mum was sick more than before, had different cravings this time around and it was when she was 3 months pregnant, daddy felt she was having a girl. Something mummy wanted and we all wanted as well, a little sister, niece and grandaughter, a first for all of us, not that it would have mattered at the end of the day, all they wanted was a healthy happy baby. Mummys pregnancy went pretty well throughout except that blasted high blood pressure again. Medication taken this time helped manage it, not like before when she was having Nicolas and I.

Mummy ended up having complications on the operating table and because she was awake the whole time felt herself drifting into unconsciousness. Chloe took longer than before to be born because of all the scar tissue that had to be snipped away to get her out and because of complications after loosing a lot of blood which started leaking into her chest cavity, amongst other things was later told by her obstetrician he didnt want to see her again having any more children. Poppy told mummy later as well, he didnt want her to take any more risks by falling pregnant, that he didnt want her to die and leave the already 3 beautiful grandchildren that she had managed to give them and leave them without a mummy, so daddy, 2 weeks later saw to that and made sure no more children would be conceived.

After Chloe was born, mummy recieved a call from one of the paediatric Dr's whilst in the recovery ward asking her if she could administer antibiotics as she looked virally.
Mum said that was ok and after she went back to the ward, they came in and spoke with her after mummy and daddy wanted to see her. They told them she was covered in pustules that looked like chicken pox and asked her if she had been in contact with anyone with chicken pox. After their answer was no, they started doing blood cultures for bacteria, all came back clear. Chloe was placed in a sterile room away from the other babies because of the chances with whatever she was born with could be contagious.
The Dr even asked her if she had Herpes, which horrified mum because as far as she was concerned she didnt. Poor daddy, recieved a phone call being asked if he had been with other women because she became extremely paranoid.

Mummy and daddy couldn't go into to see her without washing with special soap, covering their hair and body with hospital garments. She was closely monitored and all the this time no one could diagnose what these awful lesions were that covered her tiny body. Mummy remembers when she tried to undress her for a bath, her clothes would stick to her sores. Finally after 7 days of specialists from other hospitals came and went with no answers, mummy demanded to take her home as she knew whatever she had was not contagious. The specialist looking after her was not happy with her request but reluctantly let mum finally take our baby sister home.

A couple of nights later Chloe appeared unwell and her sores were looking worse, so mum and dad took her up to the Childrens hospital where a Dr who had worked in the UK years before, felt that Chloe had been born with a rare genetic disorder called Incontinentia Pigmenti. Mummy was like pardon me, please talk in english.
She proceeded to call a skin specialist telling him her feelings of Chloe's diagnosis and made a appointment for us to see him the following day. Mum and dad kept asking her questions, but never got any answers until they saw the specialist the next day. When they arrived he confirmed the Dr's suspicions and began explaining what this meant, how she was born with this rare genetic chromosone disorder and began answering all their questions honestly and openly.

Mummy asked him if it could cause Neurogical problems, (by know he knew that i was autistic), paused, sighed and said yes. Mummy then burst into inconsolable, hysterical tears. Daddy was bewildered and sad as well while trying to comfort her.
Mummy thought it was all her fault at first, but the Dr told her it was infact not her fault and nothing could have been done to prevent this from happening, but the thought of possibly having another child with a Neurological problem was bad enough, and that the fact it could happen to their only daughter who happened to be their last. This Dr was such a kind man, he even rang mummy at home to see how she was dealing with the situation.

Not long after they saw a geneticist where Chloe and mummy had to have blood tests because it was something that was usually inherited unless it was caused from a mutant gene, and because it was a extremely rare Chromosone disorder, with only one other known case here in Australia and 2 in the UK so far to date.

Mummy & daddy were later to find out it was infact caused from a mutant gene.
Chloe had to be closely monitored by a Paedatrician for her first 2 years of life to make sure all her mile stones were developing ok and no seizures had ever been apparent. Chloe did at 6 months undergo Physiotherapy for her muscle tone and has to have yearly eye tests to check for Retina detachment which is common until she is 6 years of age.

Below mummy has gathered some information about Incontinentia Pigmenti:-

Incontinentia pigmenti is an X-linked dominant disorder that presents in at or soon after birth. Although the condition involves the skin primarily, there are a number of associated disorders including dental defects, convulsive disorders, mental retardation, ocular abnormalities and childhood neoplasms. Because it is almost always lethal in males, is observed almost exclusively in female infants.

Congenital herpes simplex can mimic incontinentia pigmenti, and both the inherited and the infectious disease may occur simultaneously.[5] Other infectious diseases, such as congenital varicella, neonatal and congenital candidiasis, and staphylococcal infection must also be excluded.

Today Chloe is 3.5 years of age, her only underlying problems so far is, her teeth look like sharks teeth (or cone shaped) which later she may need dental cosmetic surgery to fix them and has to go on a waiting list so it doesn't cost mum and dad thousands of dollars. Her left eye looks a little inward but they are keeping a close eye on that (no pun intended). A little scaring on her torso which hopefully will fade with time. The thing is, when she has children of her own, her children will be born with this as it never skips a generation because the the mutant gene cannot be prevented with future children. We have been told also she can only have girls because having boys can be a problem causing severe Neurological problems.

My sister Chloe is a happy, intelligent girl with a positive future. She is yet to still understand my Autism and how it affects me at times, she is loving and always fun to be around especially when we all are bouncing on our trampoline together. While Nicolas and i play on a different level, she does try, and momentarily annoys me, no doubt, in time she will learn how to interact with me the same way. Over time we will learn together how to understand one another. I would also like to add, mummy and daddy know i love her also unconditionally and i want her to always remember that.