JULIES STORY. XX

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 opthamologist 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 

CORA'S STORY.

Hi I'm Nicky and my eldest daughter Cora 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 paediatrics 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 at Birmingham Childrens Hospital in UK and to the geneticists at Gloucester Royal. 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 at Birmingham 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.

CRYSTAL AND GABRIELLA

Hello  My name is Crystal King, I have ip along with my youngest daughter Gabriella aka Gigi. When Gigi 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 Gigi's 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 Gigi 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 Gigi 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, Gigi 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 

DEBBIE AND GABERIELLA'S STORY.

Hi I'm Debbie and my little girl Gabriella 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 Gabriella 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 Gabriella was registered blind on May 15th 2013 aged 7 months.
Throughout all of this the specialist was sure that Gabriella 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 realised this was IP until our specialist saw her and knew immediately. The blood test confirmed it about 3 weeks later. 
Gabriella 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.

ARIANNA'S STOY!!!!

This is our miss Arianna she 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. Arianna 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
This is our miss Arianna she 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. Arianna 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

PLEASE HELP US!!!!!

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
http://insaneinflatable5k.com/preview-video-of-insane-inflatable-5k/

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
https://www.paypal.com/cgi-bin/webscr?cmd=_s-xclick&hosted_button_id=U3N5GZ2S9Y6JJ

-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
insaneinflatable5k.com

Sleep Seizures

I know its been a while but there hasnt been much to tell you about my little angel other then she is doing the normal stuff babies do. But lately  my poor angel has been starting to do strange twitching in her sleep and is looking more and more like she is having sleep seizures . We are off to the doctor on Friday to do some tests to see whats happening. 

Any form of epilepsy may occur during sleep, but some types of epilepsy are more likely to be restricted exclusively to sleep. These are sometimes called Nocturnal Seizures.

Some people have seizures occur only during sleep whilst others have both daytime and nocturnal seizures. Studies have shown that 10 - 45% of people with epilepsy have seizures that occur predominantly or exclusively during sleep or occur with sleep deprivation.

When do they occur?

Sleep is divided into many stages. The majority of nocturnal seizures occur in light sleep - soon after falling asleep, before waking or around arousal during the night. This is especially true with temporal lobe seizures, myoclonic seizures, and atypical absence spells.

Although the mechanism is poorly understood, there is evidence that sleep activity may influence seizures. It is thought that the change of state has an influence on the epileptic activity, and during sleep there are a lot of changes. Some seizures also seem to occur predominantly at certain times of the sleep cycle.

As an example, in wakefulness, our brain waves remain fairly constant, but during sleep there are many changes. We go to bed and our brainwaves (EEG) transform from wakefulness to drowsiness to light sleep to deep sleep to Rapid Eye Movement (REM) sleep - and this cycle occurs 3-4 times per night. There are dramatic changes on EEG during these sleep changes.
Seizures may occur at any time during the sleep cycle, but mostly occur in light sleep - that is, stages 1 and 2 of sleep.

Awake • Drowsy • Light Sleep • Deep Sleep • REM Sleep

This generally means there are more common times at which they occur most frequently:

1. Within the first or second hour after going off to sleep (early nocturnal seizures)
2. One to two hours before the usual time of wakening (early morning seizures)
3. Within the first hour or so after awakening (early morning seizures).

Seizures that occur during sleep may also occur during an afternoon nap - they are not limited to night time.

Can they change to daytime seizures?

If a person maintains a pattern of only having seizures during sleep for several years, the probability of the seizures occurring during wakefulness is small. Many nocturnal seizures are tonic-clonic but focalseizures can also occur during sleep.

How are they managed?

It is well documented that sleep deprivation or a lack of sleep is aknown trigger for seizures and can make more seizures likely.

It is important to aim for optimum control of nocturnal seizures though, because sleep and seizures are closely related.

Nocturnal seizures can interrupt sleep, sometimes significantly. It is well documented that sleep deprivation or a lack of sleep is a known trigger for seizures - and can make more seizures likely.

Treatment of nocturnal seizures is similar to seizures of a similar nature that occur during the waking hours although sometimes the specialist may recommend a higher evening dose of antiepilepticmedication. Positive treatment of seizures is based on the type of seizures rather than on the time of occurrence.

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Sleep and seizures - what are the facts?

1. One of the most common seizure triggers for people with epilepsy, is sleep deprivation
2. Certain types of seizures are more common during sleep, but may present quite differently if they occur during the day
3. Seizures can disrupt sleep and increase daytime drowsiness
4. On occasions nocturnal seizures can be misdiagnosed as a sleep disorder and certain sleep disorders can be misdiagnosed as epilepsy (video-EEG recordings can assist with the correct diagnosis)
5. Some antiepileptic medications can contribute to sleeping difficulties or daytime drowsiness
6. Sleep apnoea is approximately twice as common in those with poorly controlled epilepsy than in the general population
7. Treatment of the sleep disorder improves seizure control and quality of life
8. Lastly, sleep disorders can exacerbate epilepsy and epilepsy can exacerbate certain sleep disorders

Regular sleep habits are important, especially to those with sleep related seizures.



Losing sleep can trigger seizures, and having seizures during sleep can cause daytime drowsiness. Drowsiness itself can increase the risk of daytime seizures for people affected by seizures during sleep.

Some people who have difficulties sleeping, or have interrupted sleep, use sedatives, which may ultimately aggravate the problem.

People with excessive daytime sleepiness often resort to coffee or other forms of stimulants to overcome this, a practice that can exacerbate seizures, especially if the stimulating substance is used in large amounts.

Problems in falling asleep may be overcome by increasing the evening medication, by avoiding the use of stimulating substances, especially in the late afternoon or evening, by calm evening activities, or by using relaxation techniques or behavioural training to establish a more efficient sleep pattern. A regular routine is vital with some people. There are many sleep specialists that can help.

Safety

For a person with nocturnal seizures, it is suggested:

1. Use low bed with padded headboards. Bunks are not recommended.
2. Avoid large soft pillows, which can increase the risk of smothering. Use instead an anti-smother safety pillow or no pillow at all.
3. Keep heavy furniture away from the bedside to prevent injury during a fall.
4. Consider using a safety mats on the floor next to the bed if the person tends to fall out of bed during seizures. Such mats are similar to those used in gyms.
5. Wall mounted lamps pose less safety risks than ordinary table lamps or study lamps, which can be easily knocked over.
6. Smoking in bed is unwise for everyone and particularly so for a person with nocturnal seizures. Consider using non-flammable bedding and a smoke alarm.
7. Avoid coarse carpets, which can lead to friction burns for those who may fall out of bed. If it's not feasible to replace carpets, a protective mat will suffice.
8. Finally, people who experience seizures exclusively during sleep and are often able to drive.

above is just a rough guide of what sleep seizures are. I posted in the IP group on facebook about these sleep seizure and im so glad i did coz it seems there a few IP angels might be going through the same sort of thing. . Ill be back in touch as soon as I have more information about my little angel. xx