Tuesday, 30 September 2014

Learning Disabilities Are a Fundamental Hallmark of the Disease
Incontinentia Pigmenti:
Learning Disabilities Are a Fundamental Hallmark of the Disease
Complete Article Download is available located at below file name within
files of this Facebook group or 
Simone Graziani uploaded a file.
March 20 at 2:01pm
FILE NAME,  Pizzamiglioetal2014.pdf
“A very interesting article about IP written by Doctor Maria Rosa Pizzamiglio, member of the
scientific committee of the Italian IP association and her colleagues” Simone G.

Abstract (borrowed from File Name Pizzamiglioetal2014.pdf) 
Studies suggest that genetic factors are associated with the etiology of learning
disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by
mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder
(1:10000/20:000) that affects the neuroectodermal tissues. It always affects
the skin and sometimes the hair, teeth, nails, eyes and central nervous system (CNS).
 Data from IP patients demonstrate the heterogeneity of the clinical phenotype;
about 30% have CNS manifestations. This extreme variability suggests that IP patients
might also have learning disabilities. However, no studies in the literature have
evaluated the cognitive profile of IP patients. In fact, the learning
disability may go unnoticed in general neurological analyses, which focus on
major disabling manifestations of the CNS. Here, we investigated the
neuropsychological outcomes of a selected group of IP-patients by focusing on
learning disabilities. We enrolled 10 women with IP (7 without mental
retardation and 3 with mild to severe mental retardation) whose clinical diagnosis
had been confirmed by the presence of a recurrent deletion in the IKBKG/NEMO
gene. The participants were recruited from the Italian patients’ association
(I.P.A.SS.I. Onlus). They were submitted to a cognitive assessment that included
the Wechsler Adult Intelligence scale and a battery of tests examining reading,
arithmetic and writing skills. We found that 7 patients had deficits in
calculation/arithmetic reasoning and reading but not writing skills; the
remaining 3 had severe to mild intellectual disabilities. Results of this
comprehensive evaluation of the molecular and psychoneurological aspects of IP
make it possible to place ‘‘learning disabilities’’ among the CNS
manifestations of the disease and suggest that the IKBKG/NEMO gene is a genetic
determinant of this CNS defect. Our findings indicate the importance of an
appropriate psychoneurological evaluation of IP patients, which includes early
assessment of learning abilities, to prevent the onset of this deficit.
For full copy of artical see FILE NAME,  Pizzamiglioetal2014.pdf 

Monday, 29 September 2014

Woop Woop, well iv just seen this on facebook. The Tshirt sale has passed its target.

96 t-shirts sold worldwide with only 3 days left to order yours athttps://fabrily.com/ip-biobank Did you know October is IP Awareness Month? These t-shirts are a wonderful way to spread awareness and to give IP HOPE. All proceeds from the sales of these shirts will help fund a much needed IP BioBank Please join us.

and help fight IP.

Come on guys its not to late to buy your Tshirts. to help raise funds for a bio bank. the Bio Bank will help us hopfully find a cure and help stop future children  from being born with IP 

Sunday, 28 September 2014

October IP Awareness and Remembrance Month

Could everyone share one of these badges and maybe use one of them as a profile picture on all your social networks, for the month of October so show your support for IP.

Saturday, 27 September 2014

There are ONLY 7 DAYS LEFT to order your Limited Edition IP Awareness T-Shirt ! https://fabrily.com/ip-biobank
All efforts made with this campaign will give IP families a brighter future Please help us with our IP BioBank and order yours today. If you would like to make a donation towards the IP BioBank please visit our website atwww.ipif.org and click the donate button to help our efforts through paypal. (IPIF is a 501(c)3 foundation and all donations are tax deductible)
Currently we have 92 shirts sold!

Friday, 19 September 2014


Well today here in the UK its jeans for genes day. its a day where everyone has to wear jeans to show support of people born with rare genetic conditions. My little girl was born with a rare genetic condition called incontinentia pigmenti and her and others like her have a very rough ride. To find out more about Incontinentia pigmenti click the link below.


we have loads of people joining in even some stars. so why dont you join in and wear jeans for genes.

If you want to fine out more about Jeans for genes day then please click the link below.




I would love to see you all wearing your jeans today, dont forget that by making people aware of rare genetic conditions, your helping the people living with them.

Thursday, 18 September 2014

our small bit of good news. xx

Just thought I would up date with some good news, Yesterday little miss went to the Dentist and like a really big girl that she is, she sat in the chair all by herself. when the Dentist looked at her he told me that her teeth were coming in beautifuly and she had no problems. as many people know one of the major problems with IP is teeth problems, so you can imagine my joy at finding out that we have nothing to worry about just yet. She hasnt got to go back for 6 month as its just a waiting game to see how the others come in.  So we are going to sit back and enjoy this little bit of good news while we have it. 

Tuesday, 16 September 2014


  There are so many children out there fighting there own little/big battles in life and we are trying to help in anyway we can. at the moment we are selling T-SHIRTS and we are hoping the kind people out there will buy them and hopefully we will be able to make a difference in there lives.


IPGB Biobank

IPGB Incontinentia Pigmenti Genetic Biobank
The Incontinentia Pigmenti Genetic Biobank (acronym: IPGB) of the Human Genetics
Laboratory at IGB-ABT CNR in Naples is a collection of DNA samples from subjects 
affected by Incontinentia pigmenti (OMIM#308300) continuously collected during a 13-
year experience as the main Italian centre of expertise for the molecular analysis of IP. To
 date 387 DNA samples from subjects affected by Incontinentia pigmenti from International
, European and Italian genetic centres are stored in the bank. All the samples are devoid o
f any personal information and can be identified only through the use of a code. Molecular and clinical data on each subject have been saved in a database with information referring to code number, clinical history, diagnostic status and sending institution. The appropriate consent has been obtained from the patients or their parents and the personal details remain confidential. Access to the entire database and collection of samples, is currently restricted, and biobank tools are under construction and not yet publicly available.
Who Sponsors the IPGB biobank?
The Biobank may be sponsored and funded by patient organizations, academic institutions, governments, or biopharmaceutical companies.
The IPGB Biobank now is under-construction: we are looking for Sponsor Corporations able to support the maintenance, data collection, data management, statistical analyses and regulatory review. Strict operating procedures and guidelines used for biobanks and for databases in compliance with local and international privacy regulations will be applied. The goal is to improve the understanding and treatment of IP disease.

when my angel was little she was wrongly diagnosed with the herpes virus, and they said this was why her legs were covered in blisters, they sent her away with cream after cream trying to get it under control. and when the blisters wouldn't go they gave her medicine and she ended up becoming very ill and almost died. fortunately for us after a number of tests (lumber puncher, blood tests, brain scans)  they re diagnosed her with IP. now with the IP BIOBANK  they could find a  much simpler  way to diagnose children, without them having to go through so much pain and possibly not making it out the other end.  Also with a IP BIOBANK we could maybe find a cure for any future unborn children, we could maybe spare any future children the suffering that our children have suffered.  All we need to do is  raise the money to set it all up. and to keep the funds going  so we can fund the research. so please come and help us, if you cant afford a Tshirt then a small donation can be made. 


WORLD WIDE (178 COUNTRY) BOOSTER ENDS 10/02https://fabrily.com/ip-biobank

Sunday, 14 September 2014


 This is a poem written by a young lady who suffers from Incontinentia Pigmenti. Its a beautiful poem  that had me moved and brought tears to my eyes. Its a poem that every IP angel can relate to, and I just felt the need to share.

The brown sploges, the blistered hands, each mark a special kiss from god, rare marks, that are meant just for you. You are unique. the stripes, you earn from the battle in yourself the way you let people know you're not like the others, only a little shows on the outside, but a thunderstorm within, because no one ever understands One in a million, silent illness, present only in the way you see yourself the way you stare at the brown spots on your arm and try everything to fix the crooked teeth and you think that society will not know your true beauty theres a light, and it comes in the people who share your journey those who have been through and gotten stronger faraway friends, who will always be the comfort blanket, wrapped around shoulders when the dark days come and you know that to them, the beauty is you you're stronger than you've ever known the brown sploges and streaks will always be a sign, that you too are one of the rare ones part of a family that needs no connection, other than that same old gene that means we are all different, but the same in journey. we may be different, but my god, we are strong, and the rare bond that comes when someone is your angel the one you turn to when you need a friend will always be found here, in our family

we are selling Tshirts to raise money for IP, if you want to help then please follow the link below and buy one. If you cant afford to buy one we totally understand but maybe you could share the link and show your friends and family . every little helps. and we are grateful to all who if willing to show these angels a bit of kindness.


Thursday, 11 September 2014



Monday, 8 September 2014


At the moment we are dealing with the normal childhood illness chickenpox.  its been a very confusing time as we could not tell if it was chickenpox or Ip. as you can see from the picture above IP and Chickenpox are very much alike, we couldn't really tell until the blisters popped and they scabbed over but from looking back, I found that IP blisters were maybe slightly more yellowy. but this is only my oppion and im not a doctor so you will have to trust your own judgement on that.

Well thought id share these pictures of my IP angel, these were took on saterday night as we lit up some angel lights to show our support to our american IP familys who were doing the big crazy event. we are so very proud of them and what they put them selves through for the sake of all IP angels. well done guys, we are very proud. of you. xx

Saturday, 6 September 2014

some photos from today. xx

Here is some photos from the big event today, not to sure how much we raised for IP yet but as soon as I find out I will let you all know, dont forget its still not to late to donate to the IPIF to help our angels. thank you to anyone who has already donated and a very big thank you to everyone who took part in today's event.








Well today is the day of the big crazy event, and we are still looking for your help to raise money for this rare genetic condtion. please  follow the links below . xxx

Team Maisie Moo invites you to join us in this CrAzY FUN Event.

We hope you will all join us for this FUN event. We have IPIF Family Members participating in an Insane Inflatables 5K. They will be running/bouncing/walking/skipping for Maisie Moo on the Boardwalk and Beach in Seaside Park, NJ, U.S.A
Sat 09/06/2014. 

We kindly ask that you choose the GOING option here to help us cheer them on from the sidelines and if you can by sponsoring their efforts to raise monies for Maisie Moo and all of her IP friends who are Family with us to the Incontinentia Pigmenti International Foundation (IPIF).

Check out this video to see what they will be doing for us on Sept 9th
Insane Inflatables 5K
New Jersey's Seaside Park | Insane Inflatables

Our Goal is to raise funds through donations for the efforts made at this cool 5K to help all of our IP Family. IP is Incontinentia Pigmenti a RARE genetic disorder that Our IP Angel Maisie has along with many others whom we have met over the years and care very dearly about.

Even two of Maisie’s little friends with IP Kylie (age 6) and Amy (age 7) are NOT sitting this event out they will be participating by trying the Insane Inflatable Kids Course & Obstacles to try and help her and all of their other IP friends

We Look Forward to this Special Day and Hope You will All Share in Our Excitement

- Donations or Sponsors please mail check made out to IPIF - (mailing address) 78 Saint Moritz Dr, Erial, NJ 08081 U.S.A. - or - me and I will mail them out all together

- Donations or Sponsors via PayPal - Team Maisie Moo - IPIF - Inflatable 5K

-Visit www.ipif.org to learn more about our rare genetic disorder, Foundation and Mission x

GO TEAM Maisie Moo !!!!

- All contributions are tax deductible
- IPIF is a 501(c) 3 organization, duly organized as a Not-for-Profit Type B Charitable Organization under the laws of the State of New York.

Preview Video of Insane Inflatable 5K | Insane Inflatables