Monday, 31 March 2014



When I first found out what my daughters condition was they told us that baby boys couldn't make it and were still born, but the more and more I learn about this condition the more I find that boys can make it but its extremely hard, below explains a little more about little boys.

  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. One of the benefits of identifying the gene, is that these 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. Several articles have been written and are available through the Foundation about males with IP.

I hope this helps  you all, if you need any more information  please check out the conatct page, there you will find different places  you can go for more information on Incontinentia Pigmenti.


Melody's Story

The last week of feb. We found out we was expecting our 3rd baby (have a 3yr old,&had a miscarriage in 10/2011.) Due date was October 24, i bled twice 1st semester one at 6 weeks& other time at 10 weeks. I got us done at 6 weeks &was told there was no proof of pregnancy tested positive but no embryo i was pretty sure i was miscarrying or already had... 3 days later i went back to check hcg levels and they were rising! I was so happy i wasn't miscarrying :)my miracle baby :) so through out pregnancy i felt nauseated only gained 15pds! I had developed gestational diabetes(no fun) but everything was going great! I did notice my daughter hardly moved i told dr but was told everything is fine. I had scheduled csec for the 17th i had contractions but was false labour. The 17th finally arrived we was so excited.

Melody Noemi was born at 8:26am weighing 7pds 4oz! 21 inches long! Looking exactly like her brother! She was soo perfect! I did notice she had like a rash mostly on all her body dr said not to worry its normal but rare. Till this day she's a great baby hardly fuses and only cry when she's hungry.

On November 18 my daughter didn't wasn't eating well i noticed her strange she cried all day&night hardly slept :( i thought maybe she had colics and blamed it on something i ate since i was breastfeeding all night she cried i did everything to soothe her she didn't want to eat but i did try feeding her she probably went without eating for 6 hours or more...

On November 19, she went to her 1 month check up.she weighed 10pds already (ebf). That day was like any ordinary day for us we went shopping for clothes &i noticed dd was twitching alot and mostly on left. I kept an eye on it &it continued now&then i told my bf i called dr he said to hold her to see if itll stop, i told him i had already did & it continued, he then told me to bring her in.I brought her into his office and right away he told me she's having a seizure. I was in schock hearing those words how can a small innocent baby can b having a seizure? He dialed 911 &right away we got transferred to hospital...once there they asked if she's had a fever i told them no. I remember them trying to put an iv but no luck she was very dehydrated they found a good vein in her forhead :( i was hopping they wouldn't put it there, they had to do something diffetently they put some type of needle thru her bone on leg to insert seizure medication fast(they left it on there for 2 days) i wasn't there when they did that i had to leave the room :( i could hear her crying it was so weak :( lots of questions ran thru my head... We Then told we was getting transferred to a bigger hospital an hr away on my way over there i called my parents keeping them updated... Once there she had a cat scan mri was told she had small hemorrhages& part of brain the blood didn't pass by :( at first the drs there told us that it could be herpes. I remember the drs tellin me that if her seizures couldn't be controlled that they would have to put her on a machine to breath for her. They told me she had a bit of brain damaged :(

The next 2 days a neoroligist was called in came and looked at her "rash" which had turned brown like swirls a couple days after birth he then talked to us about her diagnose. He diagnosed her with incontinental pigmenti syndrome a rare genetic disorder can affect skin hair teeth. They did some labs&till this day still waiting for results. When i first was told i blamed god asking why her why did this happen what did i do wrong :( it hurts me soo bad she has to go thru this such a sweet baby girl... Ive noticed since she was Born she hardly smiles even till this day she is very serious looking she has this sad look in her eyes my parents even noticed :(She had an eye check up since it can deattach retina? Eyesight looks great! She started cooing kicking away so alert all the time pretty laid back she weighs now 15pds 12oz chunky mama!

She came home on phenobarbital for her not to get seizures one every night. at 6 months old they told me to give her half on what I was giving her and at a yr old was completely weaned off :) no seizures now

Written when she was 2 months and 2weeks old.

If you would like to know more about Thalia story please just click the link below. 



About 50% of women with IP have minor abnormalities of their hair, usually a loss or lack of hair (alopecia) on the crown of the head. The alopecia is probably caused by scarring from the rash, but this is not proven. As with other children, sparseness of hair as a child does not correlate with the quantity of hair as an adult. Hair color is normal, but the hair strands themselves may be coarse, wiry, and "lusterless". For the most part, individuals do not have substantial problems with their hair.

The nails of the hands and feet may be involved. That involvement is usually mild and transient but can recur. The nails may be ridged, pitted, thickened, or completely disrupted. If these signs are present, they typically involve most or all the finger and toenails, not just one or two nails. Benign tumors have been described to grow under the nail bed and correspond with the blistering skin lesions seen in stage II. In extreme cases, these growths can be painful and may be associated with deformities of the finger bones.

All photos are an example and not guaranteed to happen. 


The majority of IP patients have normal vision. Some problems, like near- and far-sightedness, are common in IP individuals, but these are probably no more frequent than in the general population without IP. The classical eye finding in IP is an abnormality in the growth of blood vessels in the inside of the eye (the retina). Growth of abnormal blood vessels, and the associated scarring can cause loss of vision but may be treated if recognized early enough.

For this reason, babies diagnosed with IP should have an eye examination immediately after birth and be followed by an ophthalmologist closely during the first few years of life. Careful examination by a pediatric ophthalmologist or retinal disease specialist should be done 3-4 times in the first year, then every 6 months until age 4 years, then annually. Please go to Eye Examination for a detailed explanation of how to examine the eyes of an IP patient.

Rare eye abnormalities have included small eye (microphthalmos), cataract, and degeneration of the optic nerve (optic atrophy). Permanent visual deficiency or total blindness may occur.


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. 

Sunday, 30 March 2014


The earliest and most striking diagnostic features in IP occurs in the skin as progressive rashes. It has four stages which may overlap. The first stage is the erythematous (red) and vesicular (blister-like) stage which appears in infancy and is often present in the newborn. This consists of redness, blisters, and boils. It is the initial manifestation in 90% of patients.. It may last from a few weeks to a few months. The extremities and the scalp are most often affected, but the rash can be present on any body part. This rash may recur at times in the first few months of life, and rarely ever later. The rash may be confused with the skin rash seen in other infectious diseases including chicken pox, herpes, impetigo, or scabies. However, virus is never found in the blisters Each of these diseases is more common than IP and can be fatal in infants, so an infant may be treated for an infection before the diagnosis of IP is made. Knowledge of a family history of IP will aid in efficient diagnosis. As serious as it looks, the rash does not seem to be painful, although clothing may irritate the blisters. Secondary infection from common skin bacteria should be treated if it occurs.

The second phase, which may overlap with the first, are blisters which develop a raised verrucous (wart-like) surface. The lesions look like pustules. There can be thick crusts or scabs with healing and areas of increased pigmentation (darkened skin). It may be present at birth (implying that the vesicular stage took place in the womb), but it usually evolves after the first stage in 70% of patients. The extremities are involved almost exclusively. This stage typically lasts months, but rarely as long as a year. 
The third phase is the hyperpigmented stage in which the skin is darkened in a swirled pattern often described as a “marble cake” appearance. In some patients, the adjacent areas ultimately thin and widen leaving streaky hypopigmentation. It may be present at birth in 5-10% of patients but usually appears between 6 and 12 months of life. This may or may not correspond to the areas that were involved in stages I and II. The heavy pigmentation tends to fade with age in most affected individuals. 

The fourth stage is the atrophic (scarred) stage. These scars often are present before the hyperpigmentation has faded and are seen in adolescents and adults as pale, hairless patches or streaks. These are most easily seen when they are on the calf or in the scalp. Once most patients reach adulthood (late teen and beyond), the skin changes may have faded and may not be visible to the casual observer.

Saturday, 29 March 2014


DNA tested Positive Incontinentia Pigmenti via CVS in utero - Born May 2007 at The Hospital of the University of Pennsylvania by Children's Hospital of Philadelphia Doctors

2nd generation IP2 - NEMO gene deletion mutation - normal-sized band and the 8 Kb junction fragment

{ MOM - 1974 - 1st generation IP2 / new (spontaneous) mutation - common deletion mutation in one NEMO gene - heterozygous for the 8 Kb junction fragment }

Our Story – Written by, Mom, IP Angel, Laura Palentchar-Richter

I was born in 1974 and after misdiagnosis a biopsy was preformed within my first year of life. The biopsy at that time confirmed Incontinentia Pigmenti and was assumed that I was a sponta
neous mutation. 

The International IP Research Consortium (IIPRC),, which was organized in 1996 by Susanne Bross Emmerich the Founder and Executive director of Incontinentia Pigmenti International Foundation (ipif) began research to find the IP mutation. My immediate family and I along with many other families volunteered blood samples for this research. On May 24, 2000 there was a Press Release regarding the IP mutation discovery, , and it was at this time that we received my personal report stating that I was in fact a confirmed spontaneous mutation of IP.

I became pregnant in 2000 and because of the above study my baby was able to be tested in-utero via CVS. The initial results came back first showing that I was having a baby girl and the final results showed she was in-fact Negative for IP. She was born healthy on May 19, 2001. 

In 2006 I again became pregnant with my second child. I had a CVS preformed for this pregnancy also and the initial results showed I was pregnant with another baby girl. The final results however this time showed that she was in-fact Positive for IP. I delivered her on May 2, 2007 with Children’s Hospital of Philadelphia as a case study. She presented at birth with the clinical appearance of IP. 

My IP Angel is now 6yrs old and is a bit of a medical mystery regarding the neurological aspects of IP. She has been affected more severely with IP then me, but is the light of our lives and brings smiles and laughter to us every day.

Thank You and Best Wishes to ALL
*The above links are by and from Susanne Bross Emmerich





This is a story from another lady Who has had to deal with her little Angel having Incontinentia Pigmenti. 

This is about my daughter Kendyll. She was born on November 12, 2012.
Everything looked ok at birth. A little red in her face, but could've just been a newborn rash. At 2 weeks old her arm broke out like the picture in the middle. I brought her to St. Joseph's women’s hospital, they looked at me as if I held her in hot water, and she was admitted that day.
We stayed for a week and I finally mentioned to one of the doctors there that my twin and I were born with IP. I didn't 
think I had it still.. I mean I have no affects from it so it didn't even cross my mind.
Only one doctor knew what IP was and she called a dermatologist. I was sent straight there and that's when they did two skin biopsy on her leg which is when she was diagnosed with Incontinentia Pigmenti. From that day as you see her skin has gone through many MANY changes. From blisters on her hands,legs,feet..etc.and only 3 teeth up until the time she turned 15months (one being peg shaped.)
Thankfully as of today she only shows skin pigmentation and a few problems with her 5 teeth. She's 18 months old!! She's a walker, talker (man can she talk/try to talk), but most of all like all of our children she's a FIGHTER! One thing I want to make sure she knows, as well as all of these kids, is how beautiful and special they matter what life throws at them

I want to thank Kimberly for sharing her story with us, I think the more of us who is brave enough to share with us the more we can spread the word and hopfuly help more people deal with Incontinentia Pigmenti.  And maybe the more people do the more research  will be done to help our Angels. 

                   THANK YOU KINMBERLY

Friday, 28 March 2014


Different parts of the body are controlled by the electrical activity coming from different parts of the brain.

An epileptic seizure happens because of a disruption of the electrical activity in the brain. Seizures can vary enormously one from another because the brain does such a huge range of jobs. What happens in the seizure depends on where in the brain this unusual burst of electrical activity happens.

Different types of seizures

Everyone’s epilepsy is unique to them (since there are over 40 different types of seizures, that’s not surprising). But there are two main types of seizure: ‘generalised seizures’ and 'focal (or partial) seizures'.

Generalised seizures

In this type, the whole brain is affected by the abnormal electrical disturbance (think brain storm and you’re about there) and the person becomes unconscious of their surroundings.

generalised seizures, also known as grand mal epilepsy

Focal (partial) seizures

Focal (from the word for a fixed point) means the seizure comes from one particular part of the brain. What the seizure looks like depends on where exactly in the brain it stems from, and what it controls. With these seizures the person can become confused and disorientated, but will not lose consciousness.

focal or partial seizures, used to be known as an epileptic fit

Bilateral convulsive seizure

A bilateral convulsive seizure is when a focal seizure progresses and turns into a generalised seizure.

Related articles

If you think your child is suffering from Seizures you MUST!!! seek medical help as soon as possible.  

Thursday, 27 March 2014



As the week went on our Angel started getting better and better, the doctors were shocked at how much she was picking up. She just got brighter as the week went on and Thursday came round and the doctor came to us ad told us that they thought she could go home in a couple of day if she kept on the way she was going. We were so excited and I think I cried with relief. They kept doing blood tests on her and monitoring her but when Saturday came we were all packed up and on our way home. We were given medicine  to take home for the seizures and she had to take it 3 times a day. but I   thought I could handle that,  When we finally got home and walked in the door I cant explain the feeling I had, the relief and and the weight lifting off my shoulders. We settled back in to our life really easy after that horrible time. We carried on giving our Angel the medicine for a few months and then doctors decided it was time to take her off it to see how she coped without it and by the end of June she was off it completely  and up to this day she hasn't had any more seizures. We have been told that chances are she will never have another but they cant guarantee it. its a waiting game, we have been told she will always be classed as being epileptic.  over the past year we have gone backwards and forward from a number of different doctor appointments. Fingers crossed for her that everything seems to becoming back normal and good. we have not been given any news to worry about.
 Im very happy to tell you all that things haven't been so bad since, My Angel continues to have problems with her skin, Blisters and pigment marks and now seems to be developing eczema. She has bald spots in her hair and some very frizzy dry patches but these things are nothing to worry about and can be sorted or a way to cope with it can be found by the time it matters to her.. she seems to have trouble with her immune system and she finds it hard to regulate her temperature but these have not yet been diagnosed by a doctor as the doctor said she is to young but he will keep an eye on it and see how she goes. . Her physical development is a tad slow but nothing to worry about, but on the plus side her mental development is above average.  she doesn't seem to have problems with her eyes or teeth which for IP children is rare.  I class my Angel as being very lucky because the more I learn about Incontinentia pigmenti things could be a lot worse then what they are, and I know  some parents who are going through my worst nightmare and I really don't know how they do it. They are all my heroes along with there amazing IP angels.

What does the future hold for my Angel. Well no one really knows. chances are thery could stay the way they are or they could get worse. the only guarantee for her is that she is going to  have to deal with this rare genetic illness for the rest of her life. I'm very determined that she isn't going to let it stop her from doing anything she wants to do. She is a fighter and always has been since she was born. and im determined that she is going to continue to be a fighter.she is beautiful in every way possible and that's what I tell her everyday.She is going to have to visit a lot of doctors in her life but that is the price im willing to pay for her being healthy and happy. and we will take the next step in our journey when we come to it. for now im going to enjoy her for being the happy smiley baby she is.

I just want to  thank everyone for reading this, and I really hope it helps to let anyone who is going through what I have that your not alone. there are others out there who know what your going through.
Id like to also like to thank everyone over at the facebook page Incontinentia Pigmenti World Community  for all there help and support of the last year.  I will post any more news that I have for my Angel as and when it happens. If anyone has any questions please feel free to contact me or anyone over at the facebook page. you will also find some other useful information on our contact page.

Ssusie. xxx




National Society of Genetic Counselors

Incontinentia Pigmenti tests ARE available at BCM in the U.S.A and other Laboratories World Wide

ALL BCM Information Below Copied from OMIM Gene Reviews

Baylor College of Medicine DNA Laboratory 

Baylor Testing Info Quick Link -

Bloch-Sulzberger Syndrome | IP (2)

Common Deletion Analysis Testing
* Diagnostic Testing - CURRENT
* Familial Mutation/Variant Analysis - CURRENT
* Prenatal Diagnosis - AVAILABLE

Incontinentia Pigmenti Common Deletion Analysis Test Information:
Confirmation of Clinical Diagnosis, Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)

Sequence Analysis Testing
* Diagnostic Testing - AVAILABLE
* Familial Mutation/Variant Analysis - AVAILABLE
* Prenatal Diagnosis - AVAILABLE

Special Notes:
Approximately 80% of IP patients were shown to carry a common deletion mutation that removes exons 4 through 10 of the IKBKG (NEMO) gene. Southern analysis for the common IKBKG (NEMO) gene deletion is performed with an exon 2 probe and a genomic HindIII restriction digest. This assay detects an 8kb deletion junction fragment and a normal 12kb band. This diagnostic strategy was designed to avoid potential complications due to the presence of a IKBKG (NEMO) pseudogene downstream. Unusual phenotypes (such as IP in a male) should be discussed in advance.

Technical Information

Methodology: Southern blot
Gene Name: IKBKG (NEMO)
Protein Name: NF-kappa-B essential modulator
Test Type: Common Deletion Analysis
Test Code: 6036

Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant

Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Turn Around Time: 21 days

Sample & Shipping Information Test Requisition: Molecular Diagnostics


OMIM     GeneReviews  

For Additional Testing Laboratories Please Contact Your Genetic Counselor

Wednesday, 26 March 2014

my story part 3!!

From that moment forward everything seemed to be rush, rush ,rush. trying to do what ever they could do for her, they sedated her and sent her for a MRI scan, while we were waiting for the test results coming back and while she was still  half sedated they sent her for a lumber puncture. for this they wouldn't  let me go with her, I had to wait out side, they said it wasn't something I needed to witness with everything else that was going on. but as I'm standing there outside in the corridor, leaning against the wall I hear my Angel crying. Iv never felt so guilty for leaving her to go through it on her own, and its possibly something ill never forgive my self for. I truly feel like I let her down.  Back in her room on the ward it became a waiting game. she had had so many tests done I cant even remember what they were all called. we now just had to wait for all the results to come back. This is where I became restless and feeling useless. My Angel was laying in the cot hooked to different machines  and I couldn't even pick her up for a cuddle.  all I could do was stand by her and watch. by morning the results came back and they all came back normal apart from the MRI. but this just showed some swelling which they put down to bruising due to the seizures and it should just calm down and go in its own time.  So again we were back to square one not knowing what was wrong with my heart broke. I think I spent 3/4 days sat with just my Angel worrying what was going to happen because my partner her dad had to watch my son until we could organise a sitter for him. We were all going through so many different emotions, my partner was worried about leaving me on my own to deal with everything and worrying about what was going to happen to our Angel, Where I was worrying about our Angel and the guilt I felt for leaving my son for so long. But the day after we got a little spark of good news. the dermatologist   came to see our Angel and as soon as she seen her she came out with the name Incontinentia pigmenti. I felt a big  weight lift from my shoulders. to have a name to put to the thing that was making my Angel so ill. She spoke to the other doctors and they all seemed to be agreeing with her so they came and took bloods from Maisie and me and sent them off to be tested. they explained that this illness that they thought my Angel could have could of been past down from me. again my heart sunk. thinking that I could be the reason for her being so ill but that was a worry for the future. The doctors who were dealing with my Angel decided they wanted to start taking her off the machines to see how she coped by herself. and I was extremely nervous but I was so happy because I took it that things must be looking up if they were willing to try. This is where my story starts to look up. within 3 maybe 4 hours of being off the machines and drips and things my Angel started looking for a bottle and once she started drinking her bottle there was no stopping her. she just started fighting back and getting stronger. she was still on the anti seizure medicine but she was starting to look more like my little girl again

The Video shows my Angel as she is getting better.

Thanks for reading our story, there is more to come shortly. 

Susie. xx

Phil's Documentary


Tuesday, 25 March 2014


This is where my nightmare began, all we got off our angel was crying, she wouldn't settle, no mater what we did,  she was always a baby  who went to bed with no fuss but this night she spent most of it crying and screaming. As the night went on our Angel started getting worse and she started having seizures . we didn't really know what was happening to her if im really truthful with you all as iv never seen a baby have seizures before, but her eyes started rolling into the back of her head and she lost all focus and her jerking got worse. my first thought running through my head was that we had done this to her by giving her the medicine the doctor had given us, maybe we had given her to much and over dosed her. We phoned the hospital for help and they told us to take her in to be seen by a doctor. It became a rush of stress and worry while we sorted out child care for the other children and rush our Angel to the hospital. once there they took one look at her and sent her right to children's ward, she was sill having extremely bad fits and getting really distraught. This is when they hooked her up to a drip and started pumping all kind of drugs into her. And she was in for the night. They tried every blood text they could think of and decided there wasn't much more they could do for her and sent her over to a different hospital , a hospital that was bigger and better and could do more for her. Once there things were all doom and gloom, she was hooked up to every machine you can think of. she hadn't opened her eyes over  24 hours. The only good thing was a drug they had given her had stopped the seizures  but they thought if they took her off it she might start having them again. I can remember talking to the doctors at his new hospital and his  words still ring in my ears to this day, he said "she is that ill, I cant guarantee she is going to make it". It felt like my world was ending there and then.

Thanks for reading ill have more of our story soon. below are some videos of our angel and her seizures, only watch if your not easily upset as they are very upsetting.

Susie. xx


Morning everyone, this is just a quick note to let everyone know we are still work in progress. it seems we are having problems with the follow button and it wont let any of you follow us. We are trying very hard to sort out the problem out and we will post when we have it sorted to let you all know when you can follow us. if you would like to get any info on us you can always use the follow by email or by google + which both do seem to be working just fine. 

If anyone has any information on how to get the follow button to work then please let us know it will be a really big help. 

Susie. xx

Monday, 24 March 2014


Hi, my name is Susie and iv made this blog to let people know our story and other peoples story who are just like us. It all started about a year ago when my little girl was born. She was born with extremely dry skin, she was so dry her skin was totally white and flaky. When we got over the shock of how dry her skin was we started noticing little blisters all over her skin, she was covered in them. My angel was back and forward from the doctors with this skin condition and nobody seemed to be able to tell us what it was, she was given cream after cream to try and fight the blisters, but nothing worked. The last visit we had to the doctors was a bad one, it was a new doctor we seen and she seemed extremely worried about the blisters and sent her right up to children's ward. At children's ward it was awful, she was put in a side ward in case she was contagious. Looking back now I can understand why they did this but back then it was extremely frightening.  The doctor we seen told us he thought our angel had the herpes  virus and  again gave us some cream and told us to come back  in a couple of days which we did.This time  we were given some medicine (which I cant for the life of me remember what it was called). We went home and we were giving our angel this medicine and things seemed to look like they were looking up, but by night time came our angel became extremely ill.

Thanks for reading, more of our story to follow soon,

Susie xx