2014 IP Angel Fundraiser
Tax deductible
Please Give an IP Angel Hope,
Hope Changes Everything
Incontinentia Pigmenti (IP) is a RARE genetic disease of the skin, hair, teeth, nails, eyes and central nervous system.
Babies are being misdiagnosed, mothers are losing pregnancies and some infants have gained their wings all to soon. This rare disease is unpredictable and the heartache it causes is indescribable.
< Skin Rashes and Blisters
< Hair Loss, Thinning and Coarseness
< Misshaped and Missing Teeth
< Blindness and Complete Loss of Eye(s)
< Learning Disabilities
< Seizures
< Strokes
< Tumors Under Nails and Ridged Nail Beds
< Bone Deformities
< Heat Intolerance
< Immune Deficiencies
< Central Nervous System Defects
and much, much more.
IP can affect every skin cell in the body. IP is located on the NEMO gene. The NEMO gene is the gateway gene to every birth defect. IP attacks the X a girl is XX a boy XY with out one healthy X life is not possible. IP is usually fatal in boys and some girls have also passed because of IP. We do not have many answers medically for this disorder and there is No Cure. Our little ones, teens and IP adults have a 50% chance of passing their IP on and there is no way of knowing how IP will affect each generation. Some generations in each family are less affected, some the same and others are affected much worse. IP is also brought about spontaneously which is when there is NO Family History of this disorder which then is called a spontaneous mutation of IP a new life so innocent so pure but then IP shows its heartwrenching affects and will not be ignored.
Your kind donation in any amount will help :
< Direct Family Assistance
< Continued Family Support
< Increased Resources
< Continued Education
< Increased Awareness
< Strong, Solid Outreach Programs to Hospitals/Universities
< Direct and Precise Set Care Plan from Conception through all of Life
< Continued IP Research
< An IP BioBank ( http://www.igb.cnr.it/ipgb )
AND hopefully a CURE!
Please help us help our families, no amount is to small to give an IP Angel Hope
IPIF - Incontinentia Pigmenti International Foundation
Previous Name - National Incontinentia Pigmenti Foundation
IPIF is a voluntary nonprofit organization founded in 1995. It is guided by a Scientific Advisory Council, whose members are acknowledged experts in their fields. IPIF consists of patients, physicians, educators, parents, relatives, and volunteers who are striving to take leadership in supporting research, education, and funding. IPIF is a source of reliable information and support for patients and families in the United States and worldwide. Its mission is to encourage and support research on IP, and to provide family support and education.
Please Join Us & Our Families by following us on Facebook
Thank You,
The IPIF Team & Family
IP Family Stories Shared
This is a very rare genetic disorder which our granddaughter has, no one knows what the future holds for her or others like her. She is lucky she doesn't have this as bad as some children and the disorder is not running as textbook as it should, please support us, and hope one day they will find a cure. C.C.
__________
Hi 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 pediatrician saw her at 3 weeks and immediately told us to go to a dermatologist, which confirmed it was indeed IP. She 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. A.J.E.
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An Angel Called Amelie
Where do I even start? A very rare genetic disorder, mutation. Most people, in fact most of the world have never even heard of it. Statistically 1 in 500,000 or even less people are born with this genetic mutation.
I hate seizures.
I hate Incontinentia Pigmentia.
I lost my beautiful baby girl. She was only 19 days old. When she died, I lost my hopes, dreams, future as well as part of myself. Ater she died, I learned it was because of a rare genetic disorder called Incontinentia Pigmenti, which she inherited from me. I never knew I had it as I have no symptoms. With IP the chances of having a healthy child are only 50%. This is my life without my baby. My struggle to face every day as I long for my daughter and hope for a healthy child
http://anangelcalledamelie.blogspot.com/p/disorder-incontinentia-pigmenti.html
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Hi my daughter is 15 now and was was born with IP, she is so very caring and would do anything to help anyone, she brings smiles to everyone. No one would ever no the amount of pain she has been through since birth, she has had a lot of problems with her teeth, most of her bottom teeth are missing. Due to IP also it has caused slow learning which has been very stressful for her. We are currently waiting for an educational statement. So so very proud of her. and every single one of our IP angels are very brave XX S.M.
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Hi, I have IP and so does my daughter ... she has IP just like me but not in the same way her IP is worse.
Everyone that met her when she was born remembers that first year of her life with all of the blisters on her skin looking so painful on such a little infant. With her skin looking at its best now it is forgotten by so many that she still has IP. You may not be able to see it but we are reminded everyday that it is still there.
She is diagnosed with the below so far at age 7 because of IP -
Heat Intolerance
Complex Partial Epilepsy
Mild to Moderate Learning Disabilities
Migraines
Transient Alteration of Awareness
Fine Motor Delay
She is also now a first IP case who has presented with a second rare disorder called Polyostotic Fibrous Dysplasia of Bone (POFD), which scientists in Italy are looking into for her. POFD affects the bones both weakening them and causing lesions to grow both inward and outward. The pain with this additional rare disorder when it is actively growing is said to be unbearable. She has this in the left side of her face including her jaw, sinus cavity and eye. We do not know at this time what other bones are in fact affected and we are unsure how aggressively it is growing in her right now. There is no cure for ANY of this!
I was a spontaneous mutation of IP, the first in my family to get it. I am now 40 and I have had an episode of heat exhaustion, I had a heat stroke, learning disabilities that I hid, my teeth are cosmetically fixed, my nails are a mess most days and I am for the most part uncomfortable in my skin because of IP. I am fearful that my IP Angel will pass her IP on to her children now someday just like I did and it breaks my heart L.R.
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My daughter is almost 8months now.... she was born with blisters all over her arms, legs, and some of her stomach. The drs thought she had some type of virus or bacterial infections so for four days she was on three different kind of antibiotics. While receiving meds the did constant test and blood work and when everything came back negative thats when they said they think it was IP. She was found positive through biopsy and blood test. She is also a spontaneous mutation, no one in our family has it nor have we ever heard about this condition untill she was diagnosed with it . So far we are beyond blessed to say she hasn't had much symptoms just her skin and she did have to have lazer eye surgery but other than that shes doing awsome she hasn't shown any delays physically or mentally. She got her first tooth at 7month, her hair is still a little thin and she is determined to start walking. She does see alot of drs (gentic, dermatologist, orthopedic, eye dr and retnia specialist, neurologist, hearing dr, and physical therapist) mostly just to stay on top of her condition just so we can catch anything that may come up in time. Even though shes been doing so well we still deal with the "what if" that come with this condition so we try are best keep learning about this condition and most of all stay positive and strong for her and other two kids P.F.
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Hello, I have ip along with my youngest daughter. When she was born she had the trademark blisters and the doctors all thought she had some kind of staff infection. I actually had to tell them what it was, otherwise it probably would have taken them forever to figure it out! Luckily the blisters weren't extremely bad and only lasted a few months. At her 2 month checkup, I told the Dr that her right eye seemed to drop extremely low quite often. The Dr checked her eyes and saw they weren't reacting to light like they should. She immediately referred me to an ophthalmologist who discovered she had detached retinas. At 3 months old, she had surgery on both eyes to re-attach the retinas. Unfortunately it didn't last so she was declared legally blind. At 6 months she developed a cataract in her left eye and came very close to losing her eye completely. She had another surgery to remove the lenses and stabilize the pressure in her left eye. During that surgery the Dr noticed her right eye was very close to doing the same thing so she removed the lens from that eye also. So now she is completely blind in her left eye but we are pretty sure she can at least see light and maybe even shadows with her right eye. Besides her vision troubles, she hasn't had any other serious complications from ip so far. And despite everything she has gone through, she is one of the happiest babies I've ever seen C.K.
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Hi, my little girl has IP which was a spontaneous mutation. We didn't know there was anything wrong until she was 3 months. We had noticed from around 3 weeks her left eye would drift out but when we mentioned this to healthcare professionals it was dismissed as normal lack of control over her eyes. When finally at 3 months a Dr referred us to a specialist we discovered that she was already more or less blind in the left eye and that there were issues with her right. The retina in her left had been pulled right out and had folded and abnormal blood vessels had leaked and scarred her lens severely. We spoke to a surgeon but decided against surgery because he wasn't confident he could save any sight and she might lose the eye altogether. Her specialist decided to keep a close check on the right eye but didn't think anything would go wrong there. However when we returned for a check up 2 weeks later the blood vessels had started growing very aggressively and were bleeding. Despite 2 extensive laser surgeries the Dr was unable to save her sight in the right eye and she was registered blind on May 15th 2013 aged 7 months.
Throughout all of this the specialist was sure that she had IP but she hadn't presented with any skin issues. Blood was taken and whilst we awaited the results a large blister appeared on her hand when she was 5 months old. This turned warty but we hadn't realized this was IP until our specialist saw her and knew immediately. The blood test confirmed it about 3 weeks later.
She does have issues. She is not walking or talking yet but is incredibly bright. She receives a lot of support from physio and occupational therapists and they are confident her issues are from blindness rather than due to any physical manifestation of IP. Her teeth are not right. She only has 2 top teeth and these are misshapen and she does not appear to be getting any on her left side at the bottom.
Other than that she is a very happy little girl whom I adore. She is smart and feisty which will stand her in good stead later in life. I worry about the challenges she faces both in terms of her blindness and having children later due to the ip as we have seen some of the worst effects of the condition. D.S.
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This is about my daughter. 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 effects 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 are..no matter what life throws at them. P.F.
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My daughter was diagnosed with IP at 2months of age. At first when she was born 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.
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 my daughter 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 area knew anything nor had any knowledge of Incontinentia Pigmenti. My daughter 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. C.T.
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It's been a year since my daughter was confirmed as having incontinentia pigmenti . She was taken into the hospital after having seizures and having blisters all over her body. They did a brain scan,spinal tap and finally a blood test to determine what was wrong with her. I also had a blood test and my blood came back okay and they said my little girl was a spontaneous mutation. . Xx S.B.
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Hi my eldest daughter has IP. She is a spontaneous mutation and presented with the characteristic blisters at 3 days old we had no idea what it was and neither did midwives or Doctors. She was put on antibiotics because they thought it was a bacterial infection. My poor baby and very very stressful for us as new parents. I didn't feel able to hug or touch her properly not knowing what it was. She cried alot and was not a very content baby. At 9 wks after being in and out of pediatrics we were referred to a dermatologist who thought it could be IP but wasn't sure as he had never seen a case before. He didn't refer us to anyone else. We tried not to worry too much. A few months later she came out in the next skin stages with the warts and whorls all over her tummy. Back to Docs again and prescribed hydrocortisone cream. Still no proper diagnosis. Finally we had an appointment back with the dermatologist though and he referred us to a Professor in the UK and to a geneticists. The Professor confirmed IP at 18 months old. And a few weeks later genetics confirmed aswell. We were then in the system but far too late really however. We visit the Ophthalmology once a year at the moment. She is 7 next week. Up to now she just has tortuosity of the veins in the back of her eyes. Fortunately no signs of eyesight problems. She has all milk teeth but a few are peg shaped and they are noticeably smaller than her younger sister who does not have IP. So far the adult teeth are coming through ok thank goodness. She has compromised immune system and suffers quite badly when she is ill. Lots of stomach issues too. Her toe nails are very awkward to cut and are thicker than normal. She is affected by bites and stings with anything swelling up like a golf ball and taking ages to settle. In terms of development she has exceeded all my expectations and surprises me every day. My worry for her future is mainly her potentially passing it on to her own children and having that conversation about the realities of it all. I am sure she will be ok and take it in her stride and at least we ourselves can support her whatever happens. Thanks for reading. ... My IP Angel Xx N.
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My biggest fear had come true when I passed IP along to my daughter. She began to blister at 1 day old. She wound up in the nicu for 7 days for dehydration. The nurses were afraid of her because the blisters got so bad so quickly. It was heartbreaking. We did see an ophthalmologist when she was 3 weeks old and all is still fine with her eyes thank goodness. She has the typical pegged teeth and missing several which I have been lucky enough ti find a dentist which has dealt with IP before-3 hour drive but so worth it. Vivyan is extremely intelligent and it's hard to believe she has been through so much and the lifetime of issues that may arise. Just knowing I will have to explain to her about the possibility of passing it along to her children break my heart! All of our angels are so beautiful P.F.
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My 2nd daughter was born with hyper-pigmentation & blisters in some area of her body. The doctors & nurses didn't know what's wrong with my daughter. She got umbilical infusion for 3 days in hospital, after the dermatologist saw her and she said my daughter can go home. When she was 5 months old, the dermatologist said my daughter got IP, but i don't know what should I do with IP in my daughter. then when she was 10 months, the ophthalmologist said, her retina is detach, but not totally blind. she still can see but not clear. (i don't know how to explain in english... sorry). MRI test is good. there's no abnormalities in her brain. Thanks god, there's no seizures, her nail is normal.... and I am waiting for her teeth, although she is 13 months old now. P.F.
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My pregnancy went by normal I did have gestational diabetes I only gained about 14 pounds. My daughter was born at 39 weeks healthy she did have some pinkish spots on her body which pedi said it was nb rash. 2 weeks later on each leg she developed some type of blister. at 4 weeks she had her 1 month check up. the day before her check up she was not acting normal. She was a very good baby hardly cried only when hungry. I was sick with a cold and she didn't have symptoms I told dr all the night before she cried in pain never found out why she cried. She cried about 6 to 7 hours on and off. I blamed it on colics or something I ate since I was breastfeeding she had gone on without eating for id say about 7 to 8 hours. he said she was getting a cold. so we went to the store and walked around khols I noticed some type of twitching. i felt something was wrong and kept an eye on it. she continued thru out the store the twitching was only on one side. i googled nb twitching and i came across seizure i didn't believe a nb can have a seizure so young! i looked at other possibilities and nb reflux or she was cold. i hugged her and twitching didn't stop. i called the dr and he said to hold her and i told him i had done that he said i needed to come in so there i go again to dr when we got there he said they were seizures. so imagine me when i was told she had been having seizures on and off for about 3-4 hours! dr called an ambulance and was taken to nearby hospital there they ran so many tests and asked me so many qs like did she have a fever or did she fall... they tried doin an iv lane but failed so they put in some type of needle that goes on the bone instead of vein. they got urine samples and did a spinal tap?? all i heard was her faint cries she couldn't cry she sounded so weak she was very dehydrated from not eating. was told to wait out the room since all the stuff they were doing to her i couldn't handle it. was there for 3 hours and then sent to a bigger hospital an hr away. 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 wondered to myself from where? ? 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 They did tell me she had INUTERO STROKES. They told me they think its incontinentia pigmenti. very long scary word. the dr said a neurologist would come in and talk to me. he came the next day and said with her skin and seizures that's what they think it it and wouldn't get results 6 months later. i looked up ip and there was hardly anything i felt alone i felt scared for my baby at being so young had to go thru so much.so that is why i made this page to maybe help others get awareness out and she is doing so great drs didn't know if she would be able to walk crawl and she overcame all that She was a bit delayed on her development and i think she is doing so well now. she is going to see a dr about her leg one is slightly longer than other and i see a bit weakness in one but we will see once that apt comes. her eyes look good as of now and her teeth are also ok. her hair is a bit wooly but has so much hair there is my story of my daughter we have a long road ahead of us but with the help and support from friends family and ip family i am bless to have them T.L.
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www.ipif.org
Hope Changes Everything
Incontinentia Pigmenti (IP) is a RARE genetic disease of the skin, hair, teeth, nails, eyes and central nervous system.
Babies are being misdiagnosed, mothers are losing pregnancies and some infants have gained their wings all to soon. This rare disease is unpredictable and the heartache it causes is indescribable.
< Skin Rashes and Blisters
< Hair Loss, Thinning and Coarseness
< Misshaped and Missing Teeth
< Blindness and Complete Loss of Eye(s)
< Learning Disabilities
< Seizures
< Strokes
< Tumors Under Nails and Ridged Nail Beds
< Bone Deformities
< Heat Intolerance
< Immune Deficiencies
< Central Nervous System Defects
and much, much more.
IP can affect every skin cell in the body. IP is located on the NEMO gene. The NEMO gene is the gateway gene to every birth defect. IP attacks the X a girl is XX a boy XY with out one healthy X life is not possible. IP is usually fatal in boys and some girls have also passed because of IP. We do not have many answers medically for this disorder and there is No Cure. Our little ones, teens and IP adults have a 50% chance of passing their IP on and there is no way of knowing how IP will affect each generation. Some generations in each family are less affected, some the same and others are affected much worse. IP is also brought about spontaneously which is when there is NO Family History of this disorder which then is called a spontaneous mutation of IP a new life so innocent so pure but then IP shows its heartwrenching affects and will not be ignored.
Your kind donation in any amount will help :
< Direct Family Assistance
< Continued Family Support
< Increased Resources
< Continued Education
< Increased Awareness
< Strong, Solid Outreach Programs to Hospitals/Universities
< Direct and Precise Set Care Plan from Conception through all of Life
< Continued IP Research
< An IP BioBank ( http://www.igb.cnr.it/ipgb )
AND hopefully a CURE!
Please help us help our families, no amount is to small to give an IP Angel Hope
IPIF - Incontinentia Pigmenti International Foundation
Previous Name - National Incontinentia Pigmenti Foundation
IPIF is a voluntary nonprofit organization founded in 1995. It is guided by a Scientific Advisory Council, whose members are acknowledged experts in their fields. IPIF consists of patients, physicians, educators, parents, relatives, and volunteers who are striving to take leadership in supporting research, education, and funding. IPIF is a source of reliable information and support for patients and families in the United States and worldwide. Its mission is to encourage and support research on IP, and to provide family support and education.
Please Join Us & Our Families by following us on Facebook
Thank You,
The IPIF Team & Family
IP Family Stories Shared
This is a very rare genetic disorder which our granddaughter has, no one knows what the future holds for her or others like her. She is lucky she doesn't have this as bad as some children and the disorder is not running as textbook as it should, please support us, and hope one day they will find a cure. C.C.
__________
Hi 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 pediatrician saw her at 3 weeks and immediately told us to go to a dermatologist, which confirmed it was indeed IP. She 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. A.J.E.
__________
An Angel Called Amelie
Where do I even start? A very rare genetic disorder, mutation. Most people, in fact most of the world have never even heard of it. Statistically 1 in 500,000 or even less people are born with this genetic mutation.
I hate seizures.
I hate Incontinentia Pigmentia.
I lost my beautiful baby girl. She was only 19 days old. When she died, I lost my hopes, dreams, future as well as part of myself. Ater she died, I learned it was because of a rare genetic disorder called Incontinentia Pigmenti, which she inherited from me. I never knew I had it as I have no symptoms. With IP the chances of having a healthy child are only 50%. This is my life without my baby. My struggle to face every day as I long for my daughter and hope for a healthy child
http://anangelcalledamelie.blogspot.com/p/disorder-incontinentia-pigmenti.html
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Hi my daughter is 15 now and was was born with IP, she is so very caring and would do anything to help anyone, she brings smiles to everyone. No one would ever no the amount of pain she has been through since birth, she has had a lot of problems with her teeth, most of her bottom teeth are missing. Due to IP also it has caused slow learning which has been very stressful for her. We are currently waiting for an educational statement. So so very proud of her. and every single one of our IP angels are very brave XX S.M.
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Hi, I have IP and so does my daughter ... she has IP just like me but not in the same way her IP is worse.
Everyone that met her when she was born remembers that first year of her life with all of the blisters on her skin looking so painful on such a little infant. With her skin looking at its best now it is forgotten by so many that she still has IP. You may not be able to see it but we are reminded everyday that it is still there.
She is diagnosed with the below so far at age 7 because of IP -
Heat Intolerance
Complex Partial Epilepsy
Mild to Moderate Learning Disabilities
Migraines
Transient Alteration of Awareness
Fine Motor Delay
She is also now a first IP case who has presented with a second rare disorder called Polyostotic Fibrous Dysplasia of Bone (POFD), which scientists in Italy are looking into for her. POFD affects the bones both weakening them and causing lesions to grow both inward and outward. The pain with this additional rare disorder when it is actively growing is said to be unbearable. She has this in the left side of her face including her jaw, sinus cavity and eye. We do not know at this time what other bones are in fact affected and we are unsure how aggressively it is growing in her right now. There is no cure for ANY of this!
I was a spontaneous mutation of IP, the first in my family to get it. I am now 40 and I have had an episode of heat exhaustion, I had a heat stroke, learning disabilities that I hid, my teeth are cosmetically fixed, my nails are a mess most days and I am for the most part uncomfortable in my skin because of IP. I am fearful that my IP Angel will pass her IP on to her children now someday just like I did and it breaks my heart L.R.
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My daughter is almost 8months now.... she was born with blisters all over her arms, legs, and some of her stomach. The drs thought she had some type of virus or bacterial infections so for four days she was on three different kind of antibiotics. While receiving meds the did constant test and blood work and when everything came back negative thats when they said they think it was IP. She was found positive through biopsy and blood test. She is also a spontaneous mutation, no one in our family has it nor have we ever heard about this condition untill she was diagnosed with it . So far we are beyond blessed to say she hasn't had much symptoms just her skin and she did have to have lazer eye surgery but other than that shes doing awsome she hasn't shown any delays physically or mentally. She got her first tooth at 7month, her hair is still a little thin and she is determined to start walking. She does see alot of drs (gentic, dermatologist, orthopedic, eye dr and retnia specialist, neurologist, hearing dr, and physical therapist) mostly just to stay on top of her condition just so we can catch anything that may come up in time. Even though shes been doing so well we still deal with the "what if" that come with this condition so we try are best keep learning about this condition and most of all stay positive and strong for her and other two kids P.F.
__________
Hello, I have ip along with my youngest daughter. When she was born she had the trademark blisters and the doctors all thought she had some kind of staff infection. I actually had to tell them what it was, otherwise it probably would have taken them forever to figure it out! Luckily the blisters weren't extremely bad and only lasted a few months. At her 2 month checkup, I told the Dr that her right eye seemed to drop extremely low quite often. The Dr checked her eyes and saw they weren't reacting to light like they should. She immediately referred me to an ophthalmologist who discovered she had detached retinas. At 3 months old, she had surgery on both eyes to re-attach the retinas. Unfortunately it didn't last so she was declared legally blind. At 6 months she developed a cataract in her left eye and came very close to losing her eye completely. She had another surgery to remove the lenses and stabilize the pressure in her left eye. During that surgery the Dr noticed her right eye was very close to doing the same thing so she removed the lens from that eye also. So now she is completely blind in her left eye but we are pretty sure she can at least see light and maybe even shadows with her right eye. Besides her vision troubles, she hasn't had any other serious complications from ip so far. And despite everything she has gone through, she is one of the happiest babies I've ever seen C.K.
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Hi, my little girl has IP which was a spontaneous mutation. We didn't know there was anything wrong until she was 3 months. We had noticed from around 3 weeks her left eye would drift out but when we mentioned this to healthcare professionals it was dismissed as normal lack of control over her eyes. When finally at 3 months a Dr referred us to a specialist we discovered that she was already more or less blind in the left eye and that there were issues with her right. The retina in her left had been pulled right out and had folded and abnormal blood vessels had leaked and scarred her lens severely. We spoke to a surgeon but decided against surgery because he wasn't confident he could save any sight and she might lose the eye altogether. Her specialist decided to keep a close check on the right eye but didn't think anything would go wrong there. However when we returned for a check up 2 weeks later the blood vessels had started growing very aggressively and were bleeding. Despite 2 extensive laser surgeries the Dr was unable to save her sight in the right eye and she was registered blind on May 15th 2013 aged 7 months.
Throughout all of this the specialist was sure that she had IP but she hadn't presented with any skin issues. Blood was taken and whilst we awaited the results a large blister appeared on her hand when she was 5 months old. This turned warty but we hadn't realized this was IP until our specialist saw her and knew immediately. The blood test confirmed it about 3 weeks later.
She does have issues. She is not walking or talking yet but is incredibly bright. She receives a lot of support from physio and occupational therapists and they are confident her issues are from blindness rather than due to any physical manifestation of IP. Her teeth are not right. She only has 2 top teeth and these are misshapen and she does not appear to be getting any on her left side at the bottom.
Other than that she is a very happy little girl whom I adore. She is smart and feisty which will stand her in good stead later in life. I worry about the challenges she faces both in terms of her blindness and having children later due to the ip as we have seen some of the worst effects of the condition. D.S.
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This is about my daughter. 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 effects 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 are..no matter what life throws at them. P.F.
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My daughter was diagnosed with IP at 2months of age. At first when she was born 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.
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 my daughter 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 area knew anything nor had any knowledge of Incontinentia Pigmenti. My daughter 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. C.T.
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It's been a year since my daughter was confirmed as having incontinentia pigmenti . She was taken into the hospital after having seizures and having blisters all over her body. They did a brain scan,spinal tap and finally a blood test to determine what was wrong with her. I also had a blood test and my blood came back okay and they said my little girl was a spontaneous mutation. . Xx S.B.
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Hi my eldest daughter has IP. She is a spontaneous mutation and presented with the characteristic blisters at 3 days old we had no idea what it was and neither did midwives or Doctors. She was put on antibiotics because they thought it was a bacterial infection. My poor baby and very very stressful for us as new parents. I didn't feel able to hug or touch her properly not knowing what it was. She cried alot and was not a very content baby. At 9 wks after being in and out of pediatrics we were referred to a dermatologist who thought it could be IP but wasn't sure as he had never seen a case before. He didn't refer us to anyone else. We tried not to worry too much. A few months later she came out in the next skin stages with the warts and whorls all over her tummy. Back to Docs again and prescribed hydrocortisone cream. Still no proper diagnosis. Finally we had an appointment back with the dermatologist though and he referred us to a Professor in the UK and to a geneticists. The Professor confirmed IP at 18 months old. And a few weeks later genetics confirmed aswell. We were then in the system but far too late really however. We visit the Ophthalmology once a year at the moment. She is 7 next week. Up to now she just has tortuosity of the veins in the back of her eyes. Fortunately no signs of eyesight problems. She has all milk teeth but a few are peg shaped and they are noticeably smaller than her younger sister who does not have IP. So far the adult teeth are coming through ok thank goodness. She has compromised immune system and suffers quite badly when she is ill. Lots of stomach issues too. Her toe nails are very awkward to cut and are thicker than normal. She is affected by bites and stings with anything swelling up like a golf ball and taking ages to settle. In terms of development she has exceeded all my expectations and surprises me every day. My worry for her future is mainly her potentially passing it on to her own children and having that conversation about the realities of it all. I am sure she will be ok and take it in her stride and at least we ourselves can support her whatever happens. Thanks for reading. ... My IP Angel Xx N.
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My biggest fear had come true when I passed IP along to my daughter. She began to blister at 1 day old. She wound up in the nicu for 7 days for dehydration. The nurses were afraid of her because the blisters got so bad so quickly. It was heartbreaking. We did see an ophthalmologist when she was 3 weeks old and all is still fine with her eyes thank goodness. She has the typical pegged teeth and missing several which I have been lucky enough ti find a dentist which has dealt with IP before-3 hour drive but so worth it. Vivyan is extremely intelligent and it's hard to believe she has been through so much and the lifetime of issues that may arise. Just knowing I will have to explain to her about the possibility of passing it along to her children break my heart! All of our angels are so beautiful P.F.
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My 2nd daughter was born with hyper-pigmentation & blisters in some area of her body. The doctors & nurses didn't know what's wrong with my daughter. She got umbilical infusion for 3 days in hospital, after the dermatologist saw her and she said my daughter can go home. When she was 5 months old, the dermatologist said my daughter got IP, but i don't know what should I do with IP in my daughter. then when she was 10 months, the ophthalmologist said, her retina is detach, but not totally blind. she still can see but not clear. (i don't know how to explain in english... sorry). MRI test is good. there's no abnormalities in her brain. Thanks god, there's no seizures, her nail is normal.... and I am waiting for her teeth, although she is 13 months old now. P.F.
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My pregnancy went by normal I did have gestational diabetes I only gained about 14 pounds. My daughter was born at 39 weeks healthy she did have some pinkish spots on her body which pedi said it was nb rash. 2 weeks later on each leg she developed some type of blister. at 4 weeks she had her 1 month check up. the day before her check up she was not acting normal. She was a very good baby hardly cried only when hungry. I was sick with a cold and she didn't have symptoms I told dr all the night before she cried in pain never found out why she cried. She cried about 6 to 7 hours on and off. I blamed it on colics or something I ate since I was breastfeeding she had gone on without eating for id say about 7 to 8 hours. he said she was getting a cold. so we went to the store and walked around khols I noticed some type of twitching. i felt something was wrong and kept an eye on it. she continued thru out the store the twitching was only on one side. i googled nb twitching and i came across seizure i didn't believe a nb can have a seizure so young! i looked at other possibilities and nb reflux or she was cold. i hugged her and twitching didn't stop. i called the dr and he said to hold her and i told him i had done that he said i needed to come in so there i go again to dr when we got there he said they were seizures. so imagine me when i was told she had been having seizures on and off for about 3-4 hours! dr called an ambulance and was taken to nearby hospital there they ran so many tests and asked me so many qs like did she have a fever or did she fall... they tried doin an iv lane but failed so they put in some type of needle that goes on the bone instead of vein. they got urine samples and did a spinal tap?? all i heard was her faint cries she couldn't cry she sounded so weak she was very dehydrated from not eating. was told to wait out the room since all the stuff they were doing to her i couldn't handle it. was there for 3 hours and then sent to a bigger hospital an hr away. 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 wondered to myself from where? ? 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 They did tell me she had INUTERO STROKES. They told me they think its incontinentia pigmenti. very long scary word. the dr said a neurologist would come in and talk to me. he came the next day and said with her skin and seizures that's what they think it it and wouldn't get results 6 months later. i looked up ip and there was hardly anything i felt alone i felt scared for my baby at being so young had to go thru so much.so that is why i made this page to maybe help others get awareness out and she is doing so great drs didn't know if she would be able to walk crawl and she overcame all that She was a bit delayed on her development and i think she is doing so well now. she is going to see a dr about her leg one is slightly longer than other and i see a bit weakness in one but we will see once that apt comes. her eyes look good as of now and her teeth are also ok. her hair is a bit wooly but has so much hair there is my story of my daughter we have a long road ahead of us but with the help and support from friends family and ip family i am bless to have them T.L.
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