Monday, 27 October 2014

IP now has its own awareness ribbon!Many people shared their ideas and with much hard work a ribbon was created.Defined below is each part of the designs’ purpose and representation…- Light tips for the research still needed, hypopigmentation and all the unknowns- Orange and White text represent the Nemo Gene responsible for IP and the strength we find- Flowers for hope and remembrance- Tans and browns with marbling symbolize the many nationalities and hyperpigmentation Movement from dark to light colors represent past medical advancements to areas research is still neededFun fact: Wayne Allwine (the voice of Mickey Mouse) and Russi Taylor (the voice of Minnie Mouse) were married in real life!October is IP awareness month... Spread the word... spread awareness!

Wednesday, 22 October 2014

Cheriee and Ashlee's Story

We where so excited when our youngest daughter Ashlee was born. She seemed absolutely perfect when she was born, except she had a red dot on her wrist. Dr.'s said it was eczema. So we didn't worry about it. The next day at 2 days old she had gotten another dot on her leg. So we didn't worry. But when she was 4 days old she woke up with these yellow pus filled blisters all over her feet. legs, hands and arms.... it was horrifying. We took her to our local hospital. They did absolutely nothing. They said they didn't no what it was or what to do, and to go to our family Dr. So we did. Saw one dr there she didn't no so she brought another dr in. He didn't no either. So they refered us to another paediatrician. He was unsure as well... by this time we are scared and frustrated. But this dr sent pictures of her to Pittsburgh children's hospital.

Well that paediatrician called himself at 7:30pm that night. All he told us is to be at children's dermatology in the morning. We where so scared and wondering what was wrong with our baby. Dermatology automatically said they thought IP. So at 5 days old they did a skin biopsy. It was horrible. I had to hold her for it too. A couple days later they got the results and confirmed it. It was IP

Well i have to older kids as well. A daughter who is 17 and a son who is 13. I thought it was bad when my son had colic.... we poor Ashlee when she had her blisters, it was worse than colic. The thing was, drs couldn't tell me if they where painful or not. I think they where. All Ashlee did was scream. It was like she wanted to be held, but when you held her she would still scream. It was so scary. Then having to be careful so the blisters didn't pop. I thought i had a good friend but found out she wasn't a friend at all. She wouldn't even see my baby or me because she thought it was contagious. I told her it wasn't. Plus if it was don't you think I'd have it too. Well needless to say. I stopped talking to her. Well the month went by. Things were getting easier to handle. Around a month old we saw opthamology . Now I'm use to blood guts etc... but when things happen to your kid is so different. I had to hold her while they numbed her eyes then i think put like a mirror or something in behind her eye ball i think. I was trying not to watch much. They said everything looked good... oh thank god

As the months past she was still had her blisters and some swirl marks. Months down the road they wanted genetic testing done. That confirmed IP too. She then had a brain MRI... they said everything looked good but has white matter on her brain and narrowing blood vessels. But they are not worried about it because it does not seem to be effecting her. She then had what they called eye surgery. Besides being far sided everything was good.

As of today she is 2 1/2 yrs old. She is doing great. She gets a few dots/blisters every now and then. Also has faint swirl marks. She is heat intolerant. She has stomach problems to where she has never had a formed stool. She is allergic to milk and soy to. She has some crazy hair and hair loss. She has 2 different teacher's that both come to our house once a week to help her with speech and learning. She is extremely smart though. Ash has problems with her nails and also her bottom teeth are peg shaped.

Lorelei and Avery's Story.

This is Lorelei at birth, with blisters on her left arm (and inner left calf, not shown) she is 13 months now with no other symptoms to date.. she was born with the blisters which baffled the doctors. They immediately assumed herpes, which both her father and myself were negative for to begin with, and she was a C-section birth. She went directly to the NICU where she spent 10 days undergoing every test under the sun (which came up negative for herpes)and was treated intravenously for herpes. After 7 days the blisters began to fade almost completely away and reappeared on day 10. We were able to take her home on the pretenses that we see an infectious disease Dr. and a dermatologist. At 13 days old we saw the dermatologist and she had a biopsy done. At 15 days old we saw the infectious disease Dr. who immediately dismissed the possibility of herpes or any other infectious disease. 2 weeks later we received the diagnosis via a phone call from the dermatologist who explained that it was a rare genetic disorder, we needed to see a genetics Dr. immediately, and if I wanted to know more I could go ahead and google it because she had never seen it before. Needless to say I did just those things, and was able to get an appointment with the leading genetics Dr. in Tampa Bay. We found out that Lorelei's IP was a spontaneous mutation, and what we may be able expect. We see a number of specialists, but so far everything has been okay. Lorelei just turned 13 months old and we hope and pray for the best every single day. We have found great comfort in the fact that we are not alone, because it felt that way initially. We are so very thankful for all of the IP families sharing support and spreading awareness.

This is Avery after having her eyes dilated at the ophthalmologist. She is 11 months old and has swirls, 4 teeth have come in so far and 1 looks like it may be pegged but so far skin and teeth are her only symptoms.

Monday, 20 October 2014

October 20th

IP Fact #20:

IP is a rare Ectodermal Dysplasia syndrome- there are more than 150 different ectodermal dysplasia syndromes all having different combinations of symptoms

Definitions !

According to the National Foundation for Ectodermal Dysplasias (NFED) A Family Guide to the Ectodermal Dysplasia Syndromes handbook,
“Before a developing fetus is large enough to be seen, a layer of cells covers the outside of the body. This layer of cells is called the ectoderm. Typically the hair, nails, teeth and/or sweat glands derive from this layer of the developing embryo, and thus any of these derived cells and tissues may be affected in the ED syndromes. In some cases, problems also may be noted with parts of the eye, ear or other organs and body features which develop from the ectoderm.”

They go on to explain dysplasia, “Dysplasia means literally “abnormal tissue growth”, in which a part of the body is not formed well. Thus, there is an inherent abnormality in the way a particular part of the body is put together.” “A disorder is considered to be an ED syndrome only when more than one ectodermal structure is affected.”

The NFED is a great source for information, research, support and assistance for all people affected with any of the ectodermal dysplasia diseases. If interested please contact them to become a part of their family as well.

On that note:

Huxman Run 2 Sweat

Worldwide 1-Mile and 5K Event Means You Run When You Can, Where You Can

benefiting the National Foundation for Ectodermal Dysplasias

October 1 - 31st, 2014

Check out their website!

Fun Fact: A condition called synesthesia can cause senses to overlap. In other words, some people can taste words or hear colors.

October is IP awareness month... Spread the word... spread awareness!

Friday, 17 October 2014

It is NOT just a skin condition!

“These distressing lesions almost never lead to serious long-term morbidity, although they often result in time-consuming, expensive, and typically fruitless diagnostic evaluations in an attempt to diagnose other diseases."

“Blindness and psychomotor retardation, on the other hand, constitute the most serious acute and chronic complications of this disease. When they occur, they are tragedies for the patients as well as for their families. “ Morton F. Goldberg, MD

This is why it is so important to get a correct diagnosis immediately. Dr. Goldberg goes on to say how imperative it is to seek ophthalmic and neurologic specialists immediately after diagnosis. The IP BioBank will help us to move in the right direction with avoiding the epidemic of misdiagnosis. I’m not sure of the exact percentage but I know from our private family group a good many of us received a misdiagnosis in the beginning. That lost time is so valuable and many of our children can’t afford it! Let’s get the word out that this effects much more than just the skin… in fact the skin is the least of it!

October is IP awareness month... Spread the word... spread awareness!

Fun Fact: Our eyes are always the same size from birth, but our nose and ears never stop growing.

Bonus Fun Fact: Goldfish can’t close their eyes as they have no eyelids!

Wednesday, 15 October 2014

IP1 & IP2 ?

Diagnosing any rare disease is hard enough but when there is confusion between two completely different rare diseases that once carried almost the same name and the information is still available on the internet and in medical journals, it just causes added unnecessary confusion and delayed diagnosis.

IP1 was formally - Hypomelanosis of ITO
IP2 was formally - Incontinentia Pigmenti

The most common misdiagnosis as it clinically
presents like IP and can cause many of the affects like IP is
Hypomelanosis of ITO; HMI #300337. Hypomelanosis of ITO (formally IP1) is located at Xp11 and is in Fact NOT IP. Hypomelanosis of ITO at times is misunderstood by doctors because of a "mis-assignment of a wrong diagnosis" which has recently been corrected.

Hypomelanosis of ITO is located at Xp11
Xp11 is located on the short arm of the X chromosome

Incontinentia Pigmenti is located at Xq28.
Xq28 is located on the long arm of the X chromosome

Now that the gene responsible for Incontinentia Pigmenti has been characterized, diagnosis can be supplemented with molecular testing. However, diagnosis of new patients is normally carried out using clinical criteria. If the classic rash is present in a newborn, the diagnosis is fairly straightforward, but it can be more difficult when the rash is mild, when not all the stages are present, or when an adult is seen and the lesions have faded. A skin biopsy that shows the presence of "loose" melanin (the brown-black skin pigment) in the dermis of the skin confirms the diagnosis, in the appropriate clinical setting. When there is little or no skin involvement, IP may be assumed to be the diagnosis in individuals "at risk" for the disease if they have other features such as tooth abnormalities, missing patches of hair, or overgrowth and scarring of the retinal blood vessels. Such an "at risk" individual would be a woman with two (or more) affected daughters, the daughter of an affected woman, or the sister of an affected woman who herself has had the miscarriage of more than one male fetus.

The only way to map the IP mutation at Xq28 is to have molecular testing. Having this mapping completed is imperative for future family testing and for IP to NOT be overlooked again within a Family Line.

OMIM Entry - Incontinentia Pigmenti; IP #308300 -

OMIM Entry - Hypomelanosis of ITO; HMI #300337 -

October is IP awareness month... Spread the word... spread awareness!

Monday, 13 October 2014

October 13th
Mutations in genes come in many different guises. They may be small changes in the thousands of units (bases) that make up the NEMO gene, or they may be larger alterations that cut out part or the entire gene. 83% of IP woman carry an identical change in the NEMO gene, where over ½ of the gene is missing. This can be tested via blood sample by means of molecular testing and will consistently show 83% with the common deletion.
About 20% of woman with IP do not have the common mutation. They may have a different change in the NEMO genetic code or have a different condition from IP altogether. Finding these changes is less routine as it requires rigorous searching of the whole gene sequence. Presently this cannot be done in many diagnostic laboratories but it is being undertaken by some.
Fact –
A diagnosis of IP can only be confirmed when a mutation in the gene is found. If nothing is found she may still have IP but it cannot be confirmed or ruled out. There also does not seem to be a difference in the severity of IP symptoms between those in the 80% and those in the 20%.
A woman with IP who is pregnant and her mutation is unknown may not be able to determine if the fetus she is carrying has the mutated NEMO gene, where as a woman who has IP confirmed through molecular testing can have her fetus tested and IP may be ruled out if she in fact did not pass it on to the current pregnancy.
The more IP cases that can be confirmed by DNA (molecular) testing the better.
*Attached is a link to all IP testing laboratories worldwide that are available and includes the type of testing each offer for IP. A worthy share for your geneticist if you are still searching for answers for your family.
October is IP awareness month... Spread the word... Spread awareness !
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR…

Saturday, 11 October 2014


For Awareness and Remembrance month my IP family have got together to make an awareness video. We would appreciate it if you could all share in some way and help us get the word out. and also join us on the 15th October and light a candle for our IP angels.  It would also be nice if you could send your pictures to so we can share them with the rest of our IP family and share the love with the,.

Thursday, 9 October 2014

Remembrance and Awareness Month!!

Girls, Girls, Girls ~ Mothers, Aunts, Sisters, Daughters, Granddaughters, Grandmothers and the list goes on......
Not everyone who is affected by IP will pass it on, the simplest way to explain here is that there is a 50/50 chance of doing so. There are also new cases (spontaneous mutations) that occur and we do not have all of the answers as to why. We also do not have all of the answers as to why it affects some more then others all within one family line nor do we completely understand why some of our IP girls have gone too soon, why their X that is not affected with IP could not help them sustain life.
The largest unknown is IP BOYS. Most families with IP have "male fatal type". A boy pregnancy with IP will either naturally abort, come into this world stillborn, or pass away shortly thereafter. Yet we have IP boys who have survived - HOW ? .... ? someday we hope to have all of the answers to that question, until then this is what we do know.
Males have only one X chromosome. If the IP gene on a male's only X chromosome is severely damaged, males cannot survive. A healthy version of the NEMO gene is apparently so critical to life that a nonfunctional version in males causes death before or shortly after birth. There are, however, several cases of males diagnosed with IP. These individuals typically manifest IP due to carrying an extra X chromosome (XXY) or to being mosaic for both XY and XX cells. These cases can be confirmed through testing for NEMO mutations. Some mutations in NEMO manifest in disorders in males that are different from IP. These males are often characterized as having ectodermal dysplasia and/or immune deficiencies. There is disagreement among researchers and clinicians as to whether these boys really have IP, or, do they have a similar disorder that closely resembles IP. Since we have been able to identify the gene, males can now be definitively diagnosed and it can be determined if they do indeed have IP. Early findings with the NEMO gene suggest that males with features of IP may have more subtle mutations that cause their symptoms.
and research for IP boys continues .... "Further investigations are focused on the uncommon male "survivors" with IP and related unusual phenotypes with immunodeficiency."
Male survivors with IP have been found to have one of the following
Klinefelters - XXY or 47,XXY
Mosaic - both XY and XX cells, NEMO mutations
Hypomorphic - retained partial function
October is IP awareness month... Spread the word... spread awareness!

Monday, 6 October 2014



15th October!!!!!

October is Incontinentia Pigmenti Remembrance & Awareness Month. Please Join us on October 15th in a celebration of lights Remembering Pregnancies and Infants gone too Soon and Giving Hope to all of our IP Angels here with us. Hope, Changes Everything.

On October 15th we are all doing our own little things, remembrance and awareness , I would like as many people to join in . It can be anything from a simple light of a candle, to letting off a Chinese lantern into the sky. I would love to see what you decide to do, if you would like to share with us then please send your pictures with us by sending them to  please mark the email as celebration of light. I will personally  will chose one pserson who sends me a picture  a little surprise to say thank you for joining in. xx

Thursday, 2 October 2014


IP Family Story- hi my name is Amy and my 2year old daughter was diagnosed with ip at 5 weeks old via skin biopsy from her dermatologist. When she was born she had what drs called pustulars on her skin. Then at 48 hrs old broke out in a rash over her entire body. The drs called it newborn rash which would go away in 2 months. My paediatrician saw her at 3 weeks and immediately told us to go to a dermatologist, which confirmed it was indeed IP. Arabella has a whole team of specialist she sees regularly. She has endured 5 successful eye laser treatments to save her eyesight. Another one at the end of this month. She only has so far 7 cute pointy teeth, & hyper pigmentation on her body. All in all she is the happiest toddler and loves snuggles. I'm so proud to call her mine and feel equally blessed to have her in my life.

Wednesday, 1 October 2014


October 1st 

IP Fact #1: A guy named Garrod documented what seems to be the first case of Incontinentia Pigmenti in 1906, he described it as a “peculiar pigmentation of the skin in an infant”. However, it is mostly attributed to the man who keyed the term Incontinentia Pigmenti, Professor Bloch of Dermatology in Germany in 1926, after he described a two year old girl writing “the whole picture has something capricious and artificial about it, as if someone had painted completely irregular patterns on the skin”. Later Sulzberger documented in more detail on the patient and published the description in the English language literature. This resulted in it also being known as Bloch-Sulzberger syndrome.

IP is a rare disease that can affect the skin, hair, nails, eyes, teeth, central nervous system, mucous membranes, sweat glands and the immune system. It falls under the umbrella disease of Ectodermal Dysplasia. There is no cure, IP is lethal to the majority of boys who inherit or are spontaneous mutations of IP making them unable to make it to term during pregnancy and the variability in which it affects girls is completely random and widely different.

Fun Fact: Did you know that the skin accounts for around 15% of your body weight?!

October is IP awareness month... Spread the word... spread awareness!

We have managed to sell 100 T-shirts to support our IP Bio-Bank There is one day left of sales so if you have not got your T-Shirt yet and you want one to help then please do so asap by clicking the link below. The T-shirt Design is a limited Edition, so if you don't miss out.