Baby Steps

FAQ's about Piper


Aicardi Syndrome
What is Aicardi Syndrome?
How common is Aicardi Syndrome?
Is Aicardi Syndrome inherited?
How was Piper diagnosed?
What is Piper's life expectancy?
What is typically the cause of death in children with Aicardi Syndrome?
How do you explain Aicardi Syndrome to small children?

Medical Care
How many doctors, specialists, and therapists does Piper have?
How often does Piper go to a doctor or specialist?
How many medications isPiper on?
Does Piper have seizures?
Does Piper have a feeding tube?
What does insurance cover?


Daily Living
What does Piper eat?
How do we bathe Piper?
How does Piper ride in the car?
Where does Piper sleep?
Does Piper have a wheelchair?
What other pieces of equipment do you use at home?
Why does Piper wear leg braces?
How much does Piper weigh and how tall is she?
Do you have help at home?

Miscellaneous
Can Piper walk?
Can Piper sit up?
Can Piper see?
Can Piper hear?
Can Piper talk?
How much does Piper understand?
What does Piper like to do for fun?
What can I do to help?



What is Aicardi Syndrome?


Aicardi Syndrome is a rare neurological disorder where the brain doesn’t develop correctly. It is characterized by a missing or smaller than normal corpus callosum (the part of the brain that allows the two hemispheres to communicate), other brain malformations such as cysts and pockets of fluid, seizures, and spotting on the retinas of the eyes.


How common is Aicardi Syndrome?

It is currently believed that Aicardi Syndrome occurs in 1 of every 500,000 births. The Aicardi Syndrome Foundation believes there to be about 1,100 cases worldwide. For more information on Aicardi Syndrome click here.


Is Aicardi Syndrome inherited?


No. It is a genetic condition, but not inherited. Aicardi Syndrome is a genetic disease caused by non-inherited mutations on the X-chromosome. The mutation is believed to occur at 4-6 weeks of gestation when cells in the brain do not migrate to their correct locations. Aicardi Syndrome occurs sporadically, so the chances of us having another child with the syndrome are very, very small.


How was Piper diagnosed?

We first learned there was a abnormality in Piper's brain at her 20 week ultrasound. We went to find out if we were having a girl of boy and learned we were having a girl. Ten minutes later we learned there was something wrong with how her brain was developing. The doctors wanted to watch and see if things changed. When I was 32 weeks pregnant we did a MRI to determine if she was missing her corpus callosum. This is when she was diagnosed with complete agenesis of the corpus callosum. The diagnosis of Aicardi came months later after many weeks in the hospital. After confirming her seizures were infantile spasms and her eye exams showed specific characteristics of the syndrome, it was determined she has the triad usually seen in Aicardi syndrome.


What is Piper's life expectancy?

We never received a prognosis to her life expectancy, just a “time will tell” from nearly every doctor. From our own research and speaking with other parents we have come to the conclusion that every girl is different. Most children with Aicardi Syndrome pass away either before the age of one or into their early teens—times when the brain is going through lots of growth and changes. However, other children have passed away in their childhood years, and others in their late teens. A small number of others have lived to be in their 20’s, but not many. Studies show the average age of death in Aicardi Syndrome is 8.3 years old, the median age at 18.5 years of age.


What is typically the cause of death in children with Aicardi Syndrome?


The most common causes of death in Aicardi children are complications relating to a seizure, pneumonia, or sudden unexplained death. However, there are other health issues such as failure to thrive that also can contribute to death.


How do you explain Aicardi Syndrome to young children?


When children ask what’s wrong with Piper, we typically explain that Piper was born with some parts of her brain missing—that Piper is missing the part of her brain that tells her legs to walk, and she’s missing the part of her brain that makes her talk, etc. But we also like to emphasize that Piper does still have the parts of her brain that make her smile and giggle, etc. We typically explain seizures to small children as hiccups that are in her brain. We also like to emphasize what Piper has in common with a particular child, such as enjoying a certain toy, food, place etc. We also invite young children (and adults!) to feel free to ask any questions about Piper so they are not so scared or overwhelmed.





Medical Care


How many doctors, specialists, and therapists does Piper have?

Piper’s medical team currently consists of 17 healthcare professionals. She sees a pediatrician, neurologist, gastroenterologist, pulmonologist, ophthalmologist, ENT, physiatrist, geneticist, dentist, allergist, nutritionist,orthopedic doctor, physical therapist, occupational therapist, speech therapist, vision therapist, and social worker.


How often does Piper go to a doctor or specialist?


Piper averages a doctor appointment about every 2 weeks. Some months, or even weeks, she'll have lots of appointments close together, and other months might miraculously pass by without any! Piper has Physical therapy once a week, Occupational therapy twice a month, speech therapy once a week and vision therapy every 2 months. Most of these therapies are done by me at home when Piper will tolerate them. I learn a lot from our therapists and use the information at home.


How many medications is Piper on?

Piper is currently taking cannabis oil for seizures, in conjunction with a VNS implant. She takes miralax and prevacid for stomach issues. She also takes a multivitamin and supplements. She is currently on the least amount of medications in her life,  thanks to cannabis oil. (she has "failed" 9 seizure medications and the ketogenic diet)



Does Piper have seizures?


Yes. Piper has two different types of seizures. The most common ones we see are called infantile spasms or myoclonic seizures. She has anywhere from 30-200 spasms a day in clusters. On a “good day” we see 30-40. The spasms are quick and each cluster lasts around 2-3 minutes. Most of the time you don't even know she is having seizures unless you know what to look for. She quickly goes back to what she was doing before the episode started. During this type of seizure Piper looks like she is doing abdominal crunches, or what we call full-body hiccups. Unfortunately these seizures are called “little seizures, big consequences”. They cause catastrophic brain damage which leads to the low cognitive abilities in these girls. If controlled, girls will have better chances to progress developmentally. Piper's spasms are not controlled as well as we would like but we don't have any options currently.

Piper also has tonic seizures that look more like a “typical” seizure. They last from 1-3 minutes and occur sporadically. 

***UPDATE*** The information about was from before she started cannabis oil. She currently has 1-4 clusters a day, some days are seizure free and is a huge improvement from before she started


Does Piper have a feeding tube?


Many girls with Aicardi have feeding tubes, as of right now Piper does not. Since low muscle tone is an issue with the syndrome, many girls have trouble swallowing without aspirating. (breathing liquids into lungs). Piper has done two Barium swallow studies, one in November of 2011 and one in June 2012. In the first study Piper was aspirating and we thickened her formula so she would not drink so quickly to prevent aspirating. This seemed to work well and her muscles got stronger. In the most recent study she was no longer aspirating and was able to drink and eat a variety of foods. This does not mean Piper will never need a tube so we know what to watch out for. Right now she has a healthy appetite and is gaining weight. If she ever has trouble gaining weight or gets sick and is unable to eat then we may have to think about a feeding tube.

What does insurance cover?

Our insurance covers all of Piper's doctors and specialists up to 90%. She gets 90 therapy visits a year which sounds like a lot but they go fast. The Colorado early intervention system will cover some of the therapy costs if our insurance will not. Our insurance does not cover things like the standing frame, seating systems and many of the really costly pieces of equipment she needs. Early intervention will cover some of these costs if they are deemed as developmental tools. The stander for example is a medical tool not developmental so they would not cover this. These things are paid for by us out of pocket and are thousands of dollars. Luckily we have found generous families who have helped us out with used equipment.




Daily Living
 What does Piper eat?


Piper eats table food and eating is one of her strengths. She is unable to feed herself but enjoys various flavors, textures and is not a picky eater. We are really working on feeding right now since she loves to eat.  She is also learning to hold a sippy cup. She is starting to understand that she has to hold it to get the result she wants. She is really progressing in the feeding aspect. We have only seen a speech therapist for a month so most of her progress is from us working with her.


How do we bathe Piper?


We have a bath chair made from mesh fabric on an aluminum frame that sits in the bath tub. It has a strap so she can't fall into the water. It is adjustable so she can sit up or lay down and relax. We fill the bath tub up and she can sit in the water. She loves getting a bath.

How does Piper ride in the car?

Piper has a regular car seat that has a nice recline feature. When we got the car seat she was still having trouble with head control so we looked for one with recline and head support. It has worked perfectly! She loves riding in the car and does really well on long trips. We have taken plenty of long trips with her and she has done great on all of them.


***UPDATE*** We have started the process of getting a wheelchair van for Piper since she is too heavy to transfer to her car seat. She still loves riding in the car!

Where does Piper sleep?

Piper is not a good sleeper and is unable to put herself back to sleep at night when she wakes up. This may be a developmental aspect (most typical children are capable of doing this around 6m) We still don't know exactly what developmental “age” she is so we are not sure if this is a factor. Her neurological issues may be a factor in not sleeping. Piper has a full size bed with rails so she has plenty of room if she seizes at night. The crib was too narrow and became dangerous when she seizes.

***UPDATE***
Since starting cannabis oils he is able to sleep through the night for the first time in her life! She will sleep through the night at least 4 nights a week!
Does Piper have a wheelchair?


Yes. We recently purchased a wheelchair/stroller that we use when we take Piper out. Many Aicardi girls are in the wheelchairs most of the time. Right now we use it just like we would a regular stroller, it stays in the back of the van. Since she cannot sit independently we needed a chair that is supportive and also would allow her to see her surroundings better. So far it has been a great piece of equipment.






What other pieces of equipment do you use at home?
Piper has a stander, gait trainer, corner sitter, special tomato seating system and various other seating options. She will tolerate her stander for about an hour a day. She loves to watch movies while she is standing. The purpose of the stander is to help her hips develop correctly and help her leg strength. We have noticed that it has helped her overall strength and digestion. We don't know if she will ever be strong enough to stand independently but this will help her learn how to.



She has a special tomato seating system which has been the most helpful thing we have bought for her! It has a stationary base and we are getting a mobile base as well. The seat can be removed and attached to a regular chair so it can be used as a high chair. We are finally able to go to restaurants without lugging a wheelchair in! She loves being able to sit at the table and see what is going on. When we use the seat on the stationary base she is low to the ground and can see other children or our pets on her level. It has really been a great purchase.




Why does Piper wear leg braces?
Piper's feet are not flat like they need to be to bear wear weight. From repetitive spasms (her feet stiffen and curl up during episodes) her feet are not able to relax and lay flat like they should. The braces train her feet to form properly so she can bear weight. Her braces are necessary for using her standing device but she is supposed to wear them all the time. Right now she will tolerate them for about half of the day.



How much does Piper weigh and how tall is she?

At 2 yrs she is 35 in long and weighs 29lbs.

She is now almost 4 years old and is 39.5in and still 29lbs

Do you have help at home?

Many families are able to receive respite care or in home nurses to help. In Tennessee we did not quality for Medicaid and didn't have access to these options. In Colorado there is a waiver for families who do not qualify for Medicaid. We are currently on the wait list for the waiver. It helps cover the expenses of in home nursing and respite care. 

***UPDATE**
We now receive help from the Colorado CES waiver. She has a respite worker who comes twice a week to care for her so I can take a break.


Miscellaneous


Can Piper walk?


No. Piper can’t walk and we do not know if she will ever be able to. Most girls with Aicardi are not able to walk and are wheelchair bound. Walking occurs in children who are on the mild end of the spectrum. So far, Piper seems to fall in the moderate category.



Can Piper sit up?

Piper is learning how to sit up and is very motivated to do so. Her trunk control needs work but she is slowly getting stronger. She can sit with moderate support from us.


Can Piper see?

Piper can see, but we don't know how well. Vision impairments are typical of Aicardi and many girls are blind. She has retinal lacunae (holes in her retinas), colobomas (a gap in part of the structures of the eye) and underdeveloped optic nerves in both eyes. We are surprised she can see at all with all of these impairments. Her vision is most likely like Swiss cheese with blind spots. It is nearly impossible to determine how well she can see since she is non verbal. We see an ophthalmologist every three months to keep up with her vision issues. So far she has improved in tracking objects and will focus in sometimes. She crosses her eyes and patching won't help right now since it occurs in both eyes. Glasses won't help either since it is a structural malformation. She has a vision therapist who gives us tips on how to help her manage and strengthen what she is able to do. Many of her developmental issues are most likely vision based. If she can't see a toy she won't reach out for it. If you meet her and she doesn't look at you it doesn't mean she is not interested, she may being trying to see you! It takes her much longer to process visual information. We are able to find her fields of vision that seem better than others but we are really not sure if she can see us or just recognizes our voices. We do know that she is able to process light correctly so she can see shadows. She also likes bright colorful lights.




Can Piper hear?


Yes. Piper’s hearing is perfectly normal.



Can Piper talk?


No, Piper cannot talk, but she does vocalize. She has distinct and different sounds, yells, and cries, depending on how she feels or what she wants. Talking is very rare when it comes to girls with Aicardi. Even though she makes a variety of sounds it is not likely she will ever be able to say more than a few words. If she is able to talk it would be a very small amount of words and not sentences. Even the mildest girls do not speak in sentences. There are many tools to help her learn how to communicate. Some girls know a few signs or use adaptive devices for communication.


How much does Piper understand?


We believe that Piper understands a lot more than we think sometimes. We think she recognizes voices, people and objects. We believe her receptive language is more advanced than her expressive. Meaning she may understand things we say to her but she is not able to express herself. Piper also tends to smile or giggle at certain funny things that are said and seems to know when we are talking about her. We obviously like to talk to Piper and include her in activities in a way that assumes she knows exactly what’s going on around her because we really believe she does. However, it is difficult to know exactly how much she understands about what is going on around her because she does have difficulties communicating, but just because she can’t talk doesn’t mean she doesn’t have anything to say!



What does Piper like to do for fun?

Piper loves playing with toys that are loud and colorful. She loves being around people and getting constant attention. She loves being held and cuddling. She likes going places in her wheelchair and enjoys being outdoors. She likes baby einstein, elmo, and musical instruments. She likes being around other children and is very curious about them. One of her favorite things to do is rough house with her dad, she laughs and giggles every time.


What can I do to help?

Learning and spreading the word about Aicardi is one of the best ways you can help. Asking us questions and being fully informed on what is going on with Piper is helpful too. We have spread the word just by selling tee shirts because people always ask what the syndrome is. If you want to buy a shirt we have plently! We give half of the proceeds to the Aicardi foundation and the other half goes to medical bills.

You can also help out by donating to the Aicardi Syndrome Foundation which helps families like us with funding for medical equipment and attending the biennial family conferences. Money donated to the Foundation also helps researchers at Baylor University and the University of California at San Francisco conduct medical research into the causes of Aicardi Syndrome and agenesis of the corpus collosum. To donate to the Aicardi Syndrome Foundation, click here.

6 comments:

  1. Thanks Annie for all the information. Piper looks like a very sweet baby. I hope I have an opportunity to meet her one day. God bless you and your family.

    Peace,

    Ferlin

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  2. Annie, this is GREAT info! There were things in here I had no idea about :)

    Piper is a sweet little blessing!

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  3. Aicardi "sister" Amy Costa (age 25 on 1/22/13) and familyJanuary 8, 2013 at 4:30 PM

    Bravo, Koozer family! Great information for extended family and friends!

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  4. Hi Annie

    My name is Leigh and I have a 5 year old Aicardi girl in Australia....Gabby is currently on 5 anticonvulsants, but we manage her condition with her diet...her seizures sound similar to Piper's and we are on the Modified Atkin's Diet...it has changed our life and given us back control....has Piper tried it?? If not, I really recommend it....we have gone from her needing her emergency meds for seizures greater than 10mins daily to maybe once a month for her emergency meds....it is hard to manage and to maintain, but for me, it has been worth it....one downside however, is that with less seizures comes greater cognitive gains.....these girls are so smart....I say about my daughter "disabled, not stupid...." With the reduced number of seizures and the reduced amount of midazolam, Gabby can problem solve like crazy.....too well in fact...its wonderful to see, but difficult to manage....she is always getting into things that she is not allowed to have on the diet....anyway, if you have tried it and its not for you then it is what it is....but if you haven't definitely give it a go...it has changed the quality of life for everybody...Gabby, myself and her older sister...

    Leigh

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  6. Ellie (elealeh2@gmail.com)January 28, 2017 at 3:09 PM

    Please please I need an update on Piper. I've recently married and my step son has Aicardi. Recently I witnessed my first seziure cluster. Though his mother has updated us he's been having them. We have been thinking of putting him on CBD oil but we are looking for more info

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