SORRY FOR NOT POSTING FOR A WHILE. X

Well Im sorry its been a while since I last posted. Things have been kind of crazy here. My little one hasn't been all that well.  She has been teething and not sleeping which most of you with small children will understand. but things  got even more complicated  and her hand and arm have started swelling. some days its not so noticeable  and then other days her arm looks like a balloon. also last weekend my Angel had another seizure which has left us all worried. as the week has gone on my little angel has become more her self again and is happy again, big smiles are back. but we are still a little worried how everything has happened all at once. We are now waiting for word off the hospital for her  to go and get some tests done.
My doctor is also doing some of his own tests to try and find out why her hand and  arm keeps swelling and he leaning towards kidney problems but we wont know for sure until tests are done.
After finding out what the doctor was thinking I asked some of the other mums dealing with IP to see if they have heard of anything like kidney problems have occurred in IP children/adults before and sadly it seems to be so. I was given a link to a case study done on this kind of thing which ill post below for anyone who wants do read it. As I wait for tests to be done Im going to have to keep reminding my self that nothing has been confirmed and I could be worrying for nothing. And I probably am as my princess is back to seeming normal and you wouldn't think there was anything wrong with her.


http://www.ncbi.nlm.nih.gov/m/pubmed/3052788/

TEETH!!

TEETH!!

More than 80% of IP patients have abnormalities of their teeth, and these can be useful in making the diagnosis of IP. The primary (baby) teeth may be delayed. Both the baby and adult teeth may be affected. Some teeth may be missing altogether or when they do erupt, the teeth may be unusually shaped, typically peg-like or cone-shaped. The quality of the teeth and the enamel covering them is normal. Few individuals have serious dental problems, and most can be helped with cosmetic dentistry (orthodontics or prosthodontics) as necessary.

Adult teeth can be affected even when baby teeth have been fairly normal. Unfortunately, issues with baby teeth do not predict the course of adult tooth development.

Images are just an example and are not guaranteed  to happen.

 All the genetic information that we need is inherited from our parents. The majority of the genes are present as two copies, one of which we have received from each parent. Genetic diseases can be inherited in a number of ways which are referred to as "Mendelian". Recessive diseases show up only when both copies of a pair of genes are abnormal. In dominant conditions, only one member of the pair needs to be abnormal for the disease to occur. A few diseases, of which IP is one, are caused by genes on the X-chromosome and are called "X-linked". This type of Mendelian inheritance is different because all females have two X-chromosomes, while males have only one X (and another, male-determining chromosome called the Y-chromosome). For most X-linked disorders, females are not affected since they have two X-chromosomes (one with the disease gene and one with a normal gene); the effect of the normal copy of the gene on one X overrides the effect of the abnormal copy on the other X. Males, however, do not have this second normal copy; they have only one X-chromosome, so they have no way to compensate for their only abnormal X-linked gene and thus they are affected with the disease. Some rare males can have two X chromosomes along with their Y--some males with IP have been found who have this chromosomal anomaly. 

IP is a dominant X-linked condition. This means that females with only one copy of the abnormal gene will show the disease, even though they have a normal gene on their other X-chromosome. Males who inherit the abnormal gene (and, of course, do not have a balancing normal copy) do not survive, which demonstrates that the normal copy of the IP gene is extremely important. With the identification of the NEMO gene in IP, we now know that males lacking a function copy of this gene will not survive due to liver failure, typically in the first trimester of pregnancy.

A woman who is affected with IP has one normal X-chromosome, and one X-chromosome carrying the abnormal gene. At each pregnancy she will give half of her genetic information to each fetus. Thus, for any pregnancy there is a 50-50 chance that she will transmit the X-chromosome with the abnormal IP gene, regardless of the sex of the fetus. On average, half of her daughters will inherit the normal X-chromosome and be unaffected, and half will receive the abnormal X and have IP like their mother. Half of the sons will inherit the normal X-chromosome and be normal, and the other half will receive the abnormal X. Since males typically do not survive without a normal copy of the gene, these "affected" males will either miscarry or be stillborn. In summary, half the daughters of an affected IP female will have IP and half will not, but nearly all the live-born sons will be normal. This 50-50 chance for affected females is true for each pregnancy, regardless of whether previous pregnancies have been affected or not.

KYLIES STORY!!

Kylie is 5 years old; she was diagnosed with IP at 2months of age. At first when she was born here in New Jersey they said she just had a typical new born rash but then as I was being discharged even though the rash was still presentable. They explained to follow up with her primary doctor in 2 weeks which I did. He then explained it was some type of rash & prescribed her an ointment cream with no luck. He referred me to an infections specialist because he thought it was an infection. She was admitted and they ran a few blood test with nothing out the ordinary so they discharged her with yet another prescribed medication cream & instructions to be really sterile with her because her skin was really sensitive. Her rash still did not go away and her blisters where still there. I was afraid so I went back to her Primary care & he then sent me to see a dermatologist where they also did not understand what the problem was. I went to 3 pediatric dermatologist & no luck until one of the dermatologist told me real blunt. He said, “Honestly I am not sure. I have a friend who specializes in children and she is the head doctor on the specialty group of NYU Langone Skin & Cancer unit in New York City”. 
I remember this day as if it was yesterday. There was a snow storm coming and it was 2days before Xmas but I was desperate. So he asked me if he could get a hold of her would I travel to NYC so she could see my baby. Of course I sure did immediately! 
She was waiting for me in the ER unit. He explained to her in advance about my baby’s symptoms & according to her she said she knew right away Kylie had IP! As soon as she examined her she told me I know what your child has & there is not a cure with any medications. She has a rare disease and she said she would confirm it with a biopsy. Sure enough she was correct. My journey with her from that day started. I now had answers & I now knew that all those other prescriptions given to me by other doctors would not help or didn't because she did not just have a typical rash. 
No one in the Jersey area knew anything nor had any knowledge of Incontinentia Pigmenti. Her name is Dr. Julia Schaeefer in New York University Langone Hospital. Kylie has been her patient since she was 2months old & sees her yearly now. Kylie followed up with her for the first 3 years of her life every 6months. Now that she is getting older she goes every year for a follow up. 
At this time on top of having a dermatologist she also has a few other specialists that she sees. An endocrinologist who explained that she does fall off her growth chart but it is nothing major to worry about. A cardiologist who said everything now is normal but she does have a small murmur. A dentist who explained her cone shape teeth are because of the IP which I expected because her doctor made me aware of that. She has problems with hair patches, but as of now I Thank God that she is doing well & I have faith in my Lord because she will overcome this. 
I wanted to explain to those not every child who has IP suffer the severe effects that come along with this condition, some are minor than others & soon it will get better in time, & don't loose faith. All these trials only make our IP Angels special 
Thank You, Cheryl Torres

RIBBONS DESIGNER !!

As a lot of people know we have been working to get Incontinentia Pigmenti more well know. And the IPIF  have managed to get us a charity ribbon to help get us noticed, and here it is. 

OUR RIBBON!!

I would like to say a big thank you to the company for designing this charity ribbon for us. FireApparelstore.com did an amazing job with our ribbon and I for one will be glad to call it our ribbon.  If you would like to learn more about the Ribbon designers then please click the following links

http://www.firefighterapparelstore.com/

https://www.flickr.com/photos/fireapparelstore/

my angels skin so far.x

Maisies skin so far, we are not to sure what has made her pigment marks get darker and worse but we are aiming towards 3 things, either the cream we are using for her eczema, or the fact that she is a little under the weather because she is teething, or because she has got bowl problems at the moment which again is making her feel unwell.  I say she is a little under the weather , she seems ok in her self  but now and again a little clingy. if your little one has any problems like my Angels I strongly suggest you get them looked at.xx