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

ONE OF THE PROBLEMS WITH IP IN ADULTS!!

 



As we all know, IP doesn't just effect children, as IP angels grow up they face a whole knew world of problems. The pictures above are of an IP adult who has developed tumours under the nails on her hand and she has had to have amputations on the ends of her fingers .

I want to thank Gillian  Macpherson for sharing her photos with us. If there is any other Adult out would like to share there experience with us, we would be extremely grateful. xx

Shocking

MADISON HEIGHTS, Mich. (WJBK) -Jahmel Binion of Madison Heights, Mich. has the rare disorder ectodermal dysplasia, a condition characterized by a reduced ability to sweat, missing teeth and abnormal hair growth. 

He tells FOX 2's Randy Wimbley he's been getting teased his whole life, but never thought he'd be bullied by celebrities after posting a "selfie" on social media. 

He says people began recognizing him from a picture on Shaquille O'Neal's Instagram account. Former University of Michigan athlete Trey Burke and rapper Waka Flocka Flame are also said to have also joined in on the teasing. 

The photo on Shaq's Instagram has been taken down. 

Wimbley contacted Shaq via Twitter, officials with Burke's team, Utah Jazz, and Waka Flocka Flame's record label. No one responded. 

Binion says this has inspired him to start an anti-bullying campaign on Facebook called 'Hug Don't Judge.'

UPDATED TO ADD: Binion received apologies from all three via Twitter and personal phone calls. 

Read more: http://www.myfoxdetroit.com/story/25345293/mich-mans-selfie-mocked-by-celebrities-on-social-media#ixzz30SgTHvEX

Well I think this is shocking news, I am heart broken to hear about this story, as a mother with a child with a rare disorder I would be heartbroken for this to happen to my child.  I can only imagine what this poor young man has gone through in his life and then to have to deal with this. I think anyone who condones this  needs to look up on rare disorders and what the people who have them go through, I hope this is going to be a step forward for rare disorders and get them more notice then hopefully more research will be done in order to help these babies/children/adults.  I hope maybe celebs will look at this and join to help get the word out.  another way to help would be to join the facebook group Hug Don't Judge.