Thursday, October 31, 2013

Happy Halloween!


Happy Halloween from Princess Callie!






Wednesday, October 9, 2013

Return of Seizures


This update is long overdue but I wanted to make sure to document this turn of events.  In May, we started noticing Callie's right arm twitching periodically.  It just seemed like an involuntary muscle spasm, but after it reoccurred several times over a three week period our fear of seizures quickly returned.  On two occasions she seemed off balance around this time and overall had more falls than usual.  Fortunately, Callie already had her annual checkup scheduled with her neurologist Dr. Pearl at that time, so we were able to see him immediately.  But what was supposed to be a light-hearted appointment marveling over her progress over the last year ended up being a serious discussion of whether or not the twitching was a sign of seizure activity, and if so, what type of seizure and how it should be treated.  Long story short, we ended up completing an EEG which not surprisingly showed nothing (the 1 minute episodes were happening two, maybe three times per week, so obviously unlikely to catch during a 30 minute test).  Our options were to be admitted and hooked up to an EEG until the activity was detected or begin medication without proof.  I trust Dr. Pearl completely and in his opinion these were focal/partial seizures (which are common in PMG kids), so we opted to go ahead and start a med.  We were given the choice of Keppra, Lamictal, or Trileptal.  All have possible unpleasant side effects.  We chose Keppra and seemingly made the right choice because the episodes immediately stopped.  

It was difficult going through this experience in May.  I cried on and off the day I admitted to myself we were probably dealing with seizures again.  And it was tough going through the neurology appointments.  We were there three times in two weeks.  It brought back very painful memories of the beginning of this journey when we were dealing with infantile spasms and her newly diagnosed polymicrogyria.  But I am grateful to have a neurologist we trust and extremely thankful to have immediate success again with a seizure medication.  Please pray it continues to work, as sometimes these meds begin to fail.  If the seizures stay away for two years we can try weaning off medication again.  Since this update is late, its been five months so far.  We are praying and counting down... 1 year and 7 months to go.  



Thursday, September 19, 2013

Back to School!


Callie started her second year of special ed preschool at our home elementary school.  I really like the fact that she and Owen are in the same location and their classrooms are right down the hall from each other.  This year Callie is in an afternoon class five days a week.  A big yellow school bus picks her up and drops her off right in front our our home.  She loves it!  Of course the ride is only about 1 minute long because the school is right down the street from our place.  :)  She has one new teacher and all of the kids are new to her, but she has had no problems adjusting.  The teachers are making a good effort to use her talker in class and she seems to be jumping right back into her school-provided therapies.  Also, one of Callie's new classmates has PMG!  This is the first time we have ever met another child with the same diagnosis! Their symptoms present differently, but it is still neat to make a connection in person with another PMG family.  Overall, I think Callie is going to have a great year!  


(Can you believe how grown up she looks in this picture?!?)


Tuesday, August 27, 2013

AFOs and Walking


Callie continues to wear AFOs to help her walk properly.  We wear them as much as possible and always have them on when we leave the house.  The other day, however, we were at the airport about to board a flight, so I let her go without them for her comfort on the plane.  She happily walked through the airport independently sans braces and I took a little video to document her form.  She is doing great, but obviously will need her AFOs for quite some time.  But that's okay... Even if this is as good as her form ever gets, I am thrilled.  This is the girl who is not supposed to be walking!!  :)







Sunday, August 11, 2013

Ask and you shall receive!


She asked for it, she got it!  :)



Friday, July 12, 2013

Bittersweet Goodbye


Callie started receiving night nursing care when she returned home from the hospital a little over two years ago with a NG feeding tube.  At first it was essential... She had long night feeds through her tube and had to be watched throughout the night for safety.  If the tube came partially out while she was sleeping, formula could be pumped into her lungs and this was obviously very dangerous.  After 5 months, she was switched from a NG to G tube.  The G tube was so much better, but she is a very active sleeper and often became tangled in the cord, sometimes around her neck.  By this time Callie's nurses were already like family, so we were glad they could stay and continue to keep her safe at night.

The nurses became very attached to Callie and she loved them in return.  Miss Yolander joined us at the beginning of our feeding tube journey and over the course of two years watched Callie grow from 16 to 32 pounds.  She became very protective of Callie, often referring to her has her baby.  She was in charge of training any new nurses/subs for Callie's case and would give strict instructions for taking care of Callie, almost to the point of intimidating the new nurses I was told.  All of the staff at the agency knew about Yolander's baby.  :)  Miss Yolander also kept Callie stylish with super cute hairdos in the mornings.  Her teachers and therapists would comment on her cute updo's and I would have to confess that it was all Yolander.  

Miss Zeinab was with us on the weekends for nearly the whole two years.  She taught Callie her dance moves and spoiled Callie by letting her use her phone to play games and watch cartoons.  They were also known to party into the night on weekends.  We often heard giggles and laughter way later than we should have.  :)

Miss Christina was the newest addition to the team, but it quickly felt like she was there the whole time.  As a mother of four, she had a special touch with Callie and they were soon close.  They would read books together past bedtime and just seemed truly happy together.  This spring Miss Christina gave Callie a cute haircut and taught me how to do the same, although I have not been brave enough yet to give it a try.  

We were so fortunate to have such a great, caring nursing team.  At one point they picked up on her apnea symptoms and suggested having her checked out, which led to sleep studies and an apnea diagnosis, which lead to a tonsillectomy and adenoidectomy.  They also monitored Callie for seizures, although none happened on their watch.  Overall it was a huge blessing to have them be a part of Callie's team.  

It was bittersweet when we learned this part of Callie's care was ending.  At our last GI appointment, the doctor was thrilled with Callie's growth.  She is now firmly on the growth chart, holding steady at about 35% (up from 0%!).  Her most recent growth is definitely due to the introduction of a blendarized diet (which I wrote about here).  We had been slowly adding more calories during the day and cutting back on formula at night, and when I went over everything with the GI, he instructed me to move forward and cut the remaining night feed.  This was amazing news... After more than two years, Callie would no longer need to be fed by a tube at night.  No more hauling a pump, bags, formula and miscellaneous supplies while traveling. No more accidental bed feedings at home or on vacation (Hilton Parc Soleil… still so sorry about that!).  But sadly this also meant we had to say goodbye to Callie’s nurses. 

We miss you Yolander, Zeinab, and Christina.  Thank you for everything you did to care for Callie over the last two+ years.  We are very grateful for your service to our family and wish you the best.  <3 




Tuesday, May 14, 2013

Apraxia Awareness Day


Today is Apraxia Awareness Day!



Apraxia is among the most severe speech and communication problems in children.   Affected children have difficulty planning and producing the precise, highly refined and specific series of movements of the tongue, lips, jaw, and palate that are necessary to produce clear, intelligible speech.  Callie's case is considered severe.  While some days this gets me down, lately I have been filled with hope about the future.  

I recently joined a Facebook Group for parents of children with apraxia which has over 10,000 members!  We are clearly not alone on this journey.  Other parents are regularly posting videos of their children showing their progress.  The video below caught my attention.  Addison is an adorable 4 1/2 year old girl (one year older than Callie).  She has severe apraxia (like Callie).  She has speech therapy 3 times a week at school and 2 times a week privately (like Callie).  She had zero words until she was almost four (like Callie so far).  After seeing a SLP who specializes in apraxia, she made phenomenal progress in just 9 months (we are on a waitlist for a SLP who specializes in apraxia!).    


am so happy for Addison's family and will continue to hold out hope for ours!



Friday, May 10, 2013

Happy Nappy


Callie still takes an afternoon nap.  We wish her a "happy nappy" and often sing Happy Nappy to the tune of Happy Birthday when laying her down.  We have a web cam in her room and have noticed lately she prefers to play during half, sometimes all, of her nap time.  The other day my heart melted as I watched her hug and kiss her favorite little blue dog (affectionately known as "blue dog" because we are creative like that).  I know I am a little biased, but this girl is adorable.



Friday, May 3, 2013

Speak For Yourself


I am happy to finally post an AAC update!  In December I wrote about how we were entering the world of Augmentative and Alternative Communication and had chosen a DynaVox Maestro as Callie's first speech device.  I was very excited to receive the device and get started right away, but it unfortunately ended up being a bust.  I was going to write and tell you all about the issues I felt the device had as well as how we were not treated well by the rep, but instead I will keep this post positive and just say we moved on and found a far superior solution.  :)

I decided to convert my iPad into a speech device for Callie and focused my energy on researching various speech apps.  I had been following a special mom blog called Uncommon Sense and was intrigued by the app she chose for her daughter called Speak for Yourself.  While looking into other apps I kept going back to S4Y.  This app is different.  It was designed by two SLPs who have extensive knowledge of AAC devices and implementation.  They saw a need for a different type of speech app and created one with unique features.  The main screen of S4Y consists of 119 of the most common core vocabulary words.  Then each of these buttons links to a screen with additional related core words as well as personalized, programmable vocabulary.  The core words never change position.  This consistency is so much better for motor planning which can eventually increase the users rate of speech as they grow more familiar with where the words are located.  The app also has a no duplication feature.  Having only one way to get to each word is also much better for motor planning.  Finally, it takes no more than two touches to get to any word!   After programming the Maestro, I have a new appreciation for these features.  It really is an amazing app.  I "liked" the Speak For Yourself Facebook page and quickly realized the ladies who created this app are amazing too.  It didn't take long to figure out helping nonverbal children is their passion.  

About a month ago we downloaded the full version of S4Y (by the way, a free lite version is available and I love how it was possible to try it first before committing).  In only took me a day to program the app for Callie.  It was so, so easy.  I spoke to Callie's preschool teacher and SLP at school to let them know about our chosen app and ended up going in to give them a quick tutorial.  They were very open to using it and intrigued by its core word concept and unique features.  I started sending the iPad to school with Callie after only exposing it to her for a few days.  I was so incredibly happy to learn she did great with it the first day.  Her teacher let me know Callie was proud to be able to tell everyone her name and "I'm using an app called Speak For Yourself to help me talk."  She was also able to participate in circle time by saying it was sunny that day when they spoke about the weather.  A highlight was when she had the family screen open and after seeing Owen's picture, one of her therapists asked her who Owen was.  Callie pressed a button to say "I love Owen."  :)  Finally, during story time I guess she was pressing some of the buttons and they had to tell her to please be quiet.  LOL... Callie has never in her life been told to be quiet!!  Funny, but this made me so happy.  

So our AAC journey stalled out in the first couple of months, but we are rolling now thanks to our iPad and Speak For Yourself.  Callie is beginning to use her device intentionally.  The other night while eating dinner she motioned for her "talker".  I propped it up next to her and she pressed the Help button.  She had a piece of food stuck in her mouth and used her device to ask for help!  Today she was signing something, but I couldn't figure out what she was trying to request.  I asked her if she could tell me with her talker and she pressed the Bedroom button, meaning what she wanted was in her bedroom.  Then I figured out she was signing Bear... She wanted one of her teddy bears!  After that I quickly opened up and showed her the button for teddy bear and she is now using it instead of signing.  I just love seeing how she is catching on to this alternative form of communication.  

Here she is the first time we handed her the iPad with S4Y.  She was immediately interested:



FYI, for anyone who is interested I chose a protective Gumdrop (Drop Series) iPad case.  The case seems very protective and although it adds weight to the iPad, it is much lighter than the DynaVox and Callie is able to easily carry it around.  And we chose pink, of course!

Monday, April 15, 2013

IEP Success!



It is IEP season; time to negotiate Callie’s IEP for this fall, the start of her second year of preschool.  If you remember my update from last summer, you will know that the first time we went through this process was a nightmare.  The county assigned Callie to the wrong type of classroom in a school far from our home.  Then they mailed our IEP to the wrong address (privacy issue!) and therefore we did not receive a copy until hours before our first meeting.  The IEP itself was a mess, including many typos, referring to Callie as Joshua at one point (!), and it contained weak goals and laughable therapy minutes (just 20 minutes of PT despite the fact that she was hardly walking and only 30 minutes of speech when she had no words and limited sounds).  It was ridiculous and the process of working with the school teams was frustrating and stressful.  We muddled through the process as best we could and learned quite a bit.  While I felt more prepared with what to expect this year, I was also really dreading going through the process again.

But I am so incredibly relieved to report our experience was completely different this year.  I asked Callie’s teacher to please provide the first draft of the IEP as early as possible before our meeting so that this time I would have ample time to review it and better prepare.  Not only did she provide it weeks in advance, but it was a work of art compared to last time.  The information was accurate, neat, and organized, the PLOP (present level of performance) section was right on, and the goals were strong and appropriate for Callie.  We were starting in a much better place.  I went through it with a fine tooth comb and made a list of requested tweaks, and then met with the volunteer advocate I consulted with last summer.  I ran my ideas by her and she helped confirm what she felt was important to bring up with the team and what was worth letting go.  My main concern was Callie’s speech therapy minutes.  We were still at 60 per week, but now that her diagnosis is severe apraxia, this really was not enough.  Childhood apraxia of speech requires intense and frequent speech therapy.  3-5 sessions per week are recommended.  I decided to request 120 minutes, double what Callie was currently receiving.  While I felt this was truly what Callie needed, I dreaded bringing this to the IEP team because I had to beg, plead, and finally cry to get 60 last year.  What would it take to get to 120??  I did extensive research and put together a case like an attorney prepared for court.  Much to my shock, the team agreed to all 120 minutes of speech therapy in our very first meeting!  In addition, they agreed to increase her minutes from 60 to 120 immediately so that she would receive the addition therapy through the end of this school year.  They also doubled her OT minutes from 30 to 60.  I cannot tell you how pleased I am that a.) Callie finally has an appropriate and strong IEP, and b.) it only took one meeting to get to this point.  Last year the process dragged on through July.  This year we are settled in April!  What a relief.  I am so incredibly thankful the process went smoothly and am so happy for Callie.  It feels like a huge accomplishment to have successfully advocated for her.  I love this girl and would do anything for her! 

Sunday, March 31, 2013

Happy Easter!


Happy Easter from Owen & Callie! 




Monday, March 25, 2013

Walsh Lab, Boston



Over two years ago I learned about the Christopher A. Walsh Laboratory in Boston.  They research genetic mutations that can alter brain development and lead to malformations like polymicrogyria.  By studying individuals affected with these conditions and identifying the associated genes and their mutations, they learn about the proteins that are important for brain development and hope that this will lead to better options for diagnosis, management and treatment.

The Walsh Lab has a Brain Development and Genetics clinic that evaluates children with a wide range of brain development disorders, including PMG.  The clinic combines their specialties of neurology, genetics, genetic counseling and research to provide a comprehensive approach to working with families impacted by brain malformations.  Shortly after learning about the clinic I started the process of having Callie evaluated, but got side tracked with her weight gain issues and then feeding tube placement and never followed through.  A few months ago I reached out to the Walsh Lab again to set up an appointment, and a couple of weeks ago we finally made the trip.  It was worth it.

Their team was wonderful and met with us for about two hours.  We talked at length with Brenda Barry (genetic counselorand Dr. Anna Poduri (neurologist).  Dr. Chris Walsh then joined us to meet Callie and give us his opinion of her case.  The bottom line is her MRI shows fairly extensive changes with regard to her perisylvian PMG, but clinically she is on the better end of the spectrum with excellent development.  They mentioned the fact that her seizures were controlled immediately (her infantile spasms were controlled within one week with prednisolone) has no doubt contributed to her success.  Good signs include she does not have a drooling problem that is common with her type of PMG, she makes vocalizations, is socially aware, cognitively tuned in, motivated, and her body is not stiff.  These are all common symptoms that she seems to have avoided at this time and indicate she will continue to make progress.  We learned an interesting piece of new information... Callie's MRI imaging is unique in that there are deep 'folds' in the cortex or outer layer of the brain that seem to distort the shape of the ventricles and the corpus callosum.  These infoldings are not common in PMG cases.  They were intrigued by her and invited us to participate in their research studies.

We stayed after our appointment to sign consent forms and provide samples to officially enroll.  They are building a large collection of PMG patients with the goal of sequencing their genomes.  Their plan is to identify key genes that are associated with the condition by comparing genomes of patients and parents with hereditary PMG versus sporatic cases.  This seems like a great resource for our family.  To sequence Callie's genome means they will forever have a genetic profile of her condition.  If they find genes that are altered in Callie, there could be potential for treatment.  This would of course take years, but the pace of things in research is moving exponentially.  Who knows what they can accomplish in Callie's lifetime!  



Dr. Chris Walsh

 Dr. Ann Poduri

Thank you, Aunt Rhine! xoxo

Sunday, March 17, 2013

Almost Spring!


We are so ready for spring!!  There were a few mild days last week and we loved getting outside for some fresh air.  We look forward to many more warm days soon!












Saturday, February 16, 2013

Yoga


We keep a notebook in Callie's preschool backpack and her teacher sends short daily notes home to let us know how or what Callie does in class.  The other day part of the note said "We did yoga in gym and Callie worked very hard."  I thought that was so cute that they did yoga at school!  After reading the note, I turned to Callie and asked her if she did yoga with her friends in class.  She looked at me as if she were excited that I knew and nodded her head yes.  Then I asked her if she could show me her yoga moves and it looked something like this:


How adorable is it to see our special little 3 year old doing yoga?!  Love this girl!!  :)

Monday, February 4, 2013

Blendtec and Callie's Blendarized Diet


I recently changed Callie's diet to include blended food.  A blendarized diet is simply regular table foods blended into a fine enough puree to be easily given via a feeding tube.  I started looking into this alternative way of tube feeding after learning about it from a special mom friend.  She exclusively feeds her son blended food and graciously offered to show me how it is done.  I watched and took notes as she prepared large batches of balanced nutritious meals and then froze them in individual servings.  She explained it is easy to feed him nothing but healthy and organic foods because unlike most little ones who would balk at eating such a variety of vegetables and even things like sardines which are high in omega-3 and B vitamins, he does not taste them.  She told me about squirrel syringes (the very best syringes for tube feeding) and loaned me "Complete Tubefeeding" by Eric Aadhaar O'Gorman.  This book is an excellent guide to tube feeding and I highly recommend it to anyone going down this path.  In addition, it goes on to make a case for a blendarized diet explaining it is a more natural way of eating, can offer complete customizable nutrition, feels better to the tubie, and can provide countless health benefits.  After having Callie on Elecare formula for over a year and a half I was ready to give it a try.

In order to start this type of diet, it is best to have a high-powered blender, namely a Vitamix or Blendtec.  Using a high-end blender helps avoid clogging a tube.  I started comparison shopping and while both are no doubt amazing machines (check out the "Will It Blend?" videos on YouTube to see the Blendtec blend items like iPhones to dust), I liked how the Blendtec fit under the cabinets on our countertop (the Vitamix was too tall) and the sides of the Blendtec jar are smooth instead of grooved, and therefore easier to remove the food and clean.  I heard both companies offer discounts for those using the blenders for medical needs and ended up calling Blendtec first.  They were extremely helpful and caring, and a week later we had their Total Blender Classic Wildside on our front doorstep.  I can't say enough good things about this company and the blender is wonderful!
It is our goal to have Callie eat 3 regular meals a day plus snacks.  We offer her food at the table with us at meals, but do not pressure her to eat a certain amount in an effort to keep eating a positive activity.  After she eats what she can by mouth, we follow her meal with two 60ml syringes of blended food plus two syringes of water.  Her typical morning blend consists of oatmeal, whole milk, 2 fruits, walnuts, applesauce, Chia seeds, and a little extra virgin olive oil for added fat & calories.  An example of her lunch & dinner blend includes whole milk, rice, chicken, veggies, fruit, Chia seeds and oil.  While we were working up to a couple of syringes of blended food after each meal, we began cutting back the amount of formula she was getting overnight.  I am counting her calories and trying to gradually add more during the day and slowly cut back at night.

We have noticed a change since beginning this diet!  Callie is really filling out and just seems... solid!  I am thrilled to report she broke 30 pounds last month.  This feels like a huge accomplishment.  I have worked hard to get every ounce on her and it just makes me so happy to see her thriving.  We moved up to a new size of pull-ups and I've been buying her new, bigger clothes.  She also seems to have more energy.  I really feel like this diet has been a very healthy change for her and look forward to continuing to move towards more blended food.  We are getting there and it should not be too much longer until she is done with medical formula at night.  Once she is consuming all of her calories during the day we will then gradually try to start cutting back on the blended food as she is able to eat more orally and she will eventually be done with her tube.  But we are okay with as long as that takes and are just satisfied that she will soon be consuming an all natural diet.  Slowly but surely we are making progress on the food front!


BTW, next week is Feeding Tube Awareness week.  We ♥ our tubie!







Friday, January 18, 2013

PMG Awareness & Daytona




When a tiny 3 week old baby girl was diagnosed with polymicrogyria in 2011 her mother and grandmother felt discouraged and disappointed when they were able to find very little information and support.   They ended up feeling inspired to do something about this and, along with some other special moms, started a non-profit called PMG Awareness Organization (PMGAwareness.org).  Their mission is to promote awareness, diagnosis, and treatment of polymicrogyria through education, research, advocacy, and support.  Their website consolidates all PMG information into one place and is especially helpful to families receiving the diagnosis and looking for answers.  It is also a great place to learn how to connect with other PMG families.  Callie's blog is listed on their site.  

One member of the board of directors of PMG Awareness has a family friend who has been pursuing one of his passions, race car driving.  He is racing for TruSpeed Motors in the Rolex 24 Hours of Daytona in Florida next week from January 26th-27th.  This wonderful and caring man wanted to do something special to help and as a result offered to put the PMG Awareness logo on his car and have patches made for the race team and pit crew to wear on their race uniforms.  He is also putting the names of PMG kids on the car.  Callie will be one of them!  This is a wonderful opportunity to raise awareness of polymicrogyria since the race is huge and will be televised on the Speed TV network.  If you catch any of it, please join us in cheering on TruSpeed!









Friday, January 11, 2013

EoE Update


Last Friday Callie had another upper GI endoscopy, her seventh to date.  We know the routine well, but it never seems to get any easier.  Callie knew what was going on as soon as we were called back to the prep area and was not happy to be there.  After getting her changed, reviewing her medical history with the nurse, and touching base with the anesthesiologist, we headed back to the procedure room.  I talked to her as we were wheeled back and explained to her that she would wear a mask and then would take a nap and I would be with her when she woke up.  She didn't want to hear any of it.  She was terribly upset and crying.  Once the team was assembled in the room it was time to begin and they placed the mask on her little face while I held her, unsuccessfully trying to comfort her.  She fought it as long as possible until she succumbed to the gas and drifted off to sleep.  As usual, I fought back tears during these traumatic moments, and then reluctantly handed her over and fled the room so that I could let them flow.  But the worst was over and things turned around from that point.

While I waited by her side for her to wake up in the recovery room, the GI doctor came to speak with me and advised the scope looked clear!  Biopsies were taken and the results would take a week to confirm, but his impression was she passed dairy.  Wonderful news!  We did not have long to talk, but I told him of the top food allergies she had now passed everything except nuts and shellfish, which haven't been tried yet.  I asked him if I could just keep these items out of her diet (we can live without them!) so that we do not have to go though another endoscopy for a long time.  He said that would be fine, although we will eventually have to scope when we try to take her off Prevacid.  I was just happy to know we would not have to go through this again for a while.  Also, I remarked how it was amazing that we thought she was allergic to everything and now maybe nothing!  He said most likely she has grown out of the allergies that originally caused her EoE.  Although in the back of my mind I kept thinking about CHOP's opinion that she was possibly mis-diagnosed and that perhaps reflux, not food allergies, has been the problem the whole time.  We will never know.  But the important thing is we now know she is able to safely consume nearly all foods!  And we are so incredibly thankful for this!!




Tuesday, January 8, 2013

New Year



I recently started reading another blog by a mom with a little girl with developmental delays.  In a new year post she reflected on her past year saying it was the year of walking and the upcoming year was going to be the year of talking, whether verbally or with the use of an AAC device.  I feel the same way!  2012 was huge for us with Callie learning to walk at just over 2 1/2 years old.  It is my hope that 2013 is going to be the year of talking, and let's add feeding to the mix.  I feel confident we will soon be able to wean Callie from her night tube feeds of formula so that she consumes all of her calories by day, whether orally or orally supplemented with blenderized food via tube.  More on that very soon.  And it would be wonderful is she ends up with some words (or even approximations) this year, but I will be thrilled if we simply begin to have success with an AAC device.  As I previously mentioned, we recently received Callie's DynaVox Maestro.  I spent 3 hours with the rep last week learning how to program and customize it for Callie.  I have been working on it a little each day, but I have to admit it is slow going.  It is quite an undertaking to set up.  Callie has played with it here and there and is familiarizing herself with how it works, but we have not yet really tried to use it for communication.  Hopefully I can wrap up the programming this week.  

At any rate, I feel excited and optimistic about what this year may bring for Callie.  Happy New Year!





 

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