Thursday, February 24, 2011

Schuyler


The day after returning home from the hospital last year, Allen found a blog about a special girl named Schuyler ("Skyler") who has the the same type of PMG as Callie.  It was the first time I saw a picture and read about a child with PMG.  The author of the blog is Schuyler's father.  The date was May 7th and the current entry (http://www.schuylersmonsterblog.com/2010/05/purple-snowflake.html) said "She's a ten year-old girl who wears a bra and wants to experiment with makeup and dances around the living room to Lady Gaga. She argues with her parents; she fake pouts when she wants something and does it for real when she doesn't get it."  I started crying when I read this. It gave me hope that Callie in some ways could lead a typical life.  I needed this hope after just hearing that she may not ever be able to walk or talk.

In the weeks that followed, I became consumed with reading about Schuyler.  I went back and read every entry about her in the blog, found videos of her on YouTube (cried when I saw this one: http://www.youtube.com/watch?v=5IWDvwvbWLA), and read the book her dad Robert Rummel-Hudson wrote called "Schuyler's Monster: A Father's Journey with His Wordless Daughter".  In many ways she is able to live typically, but Schuyler is unable to speak due to her PMG.



When we went to Seattle to see Dr. Dobyns, he asked me if I had "read the book by the father".  I said yes and he said he felt like Callie's case is similar to Schuyler's.  Since then, every time I read about Schuyler, I can not help but think that might be Callie in 10 years.  Sometimes I wish and pray Callie will be as well off as Schuyler.  I think, “If only she can walk/dance/jump around, attend school, and have a couple friends, things will be good, even if she is unable to speak.”  If this is Callie's future, things will be good (just google infantile spasms & polymicrogyria and you will quickly realize that this would be a very fortunate future indeed), but I can't help to think things will also still be so hard.  It breaks my heart to think about never having a verbal conversation with my daughter, especially considering I talk to my own mom most days.  I am sad when I think about how difficult things will most likely be for her socially.  It will still be a very tough road, even if she is blessed enough to have most abilities except for speech and more minor cognitive challenges.  I know my heart is going to break over and over again for her, and this is probably our best case scenario.  In reality, Callie's case may be worse than Schuyler's due to her IS (thankfully Schuyler never had IS and has been seizure free to date), but I will continue to hope for the best and try to keep everything in perspective.  I know things can always be much worse and need to remember there is no way to know what the future holds.  I should not waste energy worrying over something I can not control…easier said than done for me, that’s for sure.

Friday, February 18, 2011

Seizure Info


After our appointment with Dr. Pearl and the news that Callie's next seizure type will probably be a partial seizure as opposed to IS, I started doing some research so that I will know how to better recognize the symptoms.  Here is a good, simple explanation of partial seizures:

An epileptic seizure is the body and brain's response to sudden bursts of abnormal electrical activity in the brain.  A partial seizure is an epileptic seizure that begins in a distinct part of the brain.  There are three types:
  • Simple partial seizures briefly disrupt a person's speech, movement, vision, or sense of smell or taste but do not affect a person's level of consciousness.
  • Complex partial seizures alter a person's level of consciousness and make the person stare into space.  The person may notice a strange smell, taste, or feeling (aura) at the beginning of a seizure.
  • Partial seizures with secondary generalization begin like simple and complex partial seizures but then spread (generalize) to the rest of the brain, leading to the more familiar type of epileptic seizures (tonic-clonic seizures) in which the person's muscles stiffen and jerk.
There seem to be a wide range of possible symptoms and I worry about being able to recognize Callie is having a seizure.  I am a part of the PMG yahoo group and there are often "is this a seizure?" posts... Parents are always posting their child's symptoms to get everyone's opinion.  Hopefully, like Dr. Pearl said, I will know.

In the meantime, I have to say it has been disturbing to learn how many different types of seizures there are and how the symptoms vary so widely.  Did you know there are absence, myoclonic, atonic, tonic, clonic, simple partial, complex partial, and grand mal (generalized tonic-clonic) seizures?  Epilepsy is a horrible condition.  :-(

Tuesday, February 15, 2011

New Plan


Today Callie had a checkup with her neurologist Dr. Pearl.  He liked how alert and attentive she looked and was very pleased her seizures have not returned.  In fact, he said now that she is 15 months old, it would be very uncommon for the infantile spasms to return again (although it was also uncommon for them to return a second time last year).  At this point, she would probably have partial seizures instead of infantile spasms if she does experience another spell.  I need to do some research so that I know how detect this new type of seizure.  I believe it can be anything from a twitch to staring into space.  He said I will know it if I see it and I hope so.  

I let Dr. Pearl know about Callie's recent failure to thrive diagnosis and asked if her eating and weight gain issues could be partially due to the Topamax she is taking and he said yes.  He went on to say he feels that we should wean her from Topamax since she has hopefully outgrown the IS.  He said it is a very tough drug which is good for IS, but not worth having her on now that she is hopefully over the IS.  Once she is off the drug, hopefully we will see her with an appetite and more of an interest in food.  He gave me instructions to start weaning her starting tomorrow.  In six weeks she will have her last dose.  The kicker is he does not want to put her on anything else right now.  He said he would like to try having her go without meds at this point.  I have already shared my thoughts on meds, so of course I would prefer that she not take them, but it scares me to think of not having her on a seizure medication.  I am not completely comfortable with this, but he seemed certain of this and I do trust this doctor, so I am going to go with it unless the research I am going to be doing the next few days makes me think differently.  To help ease our minds and give us more information, Dr. Pearl would like Callie to have a 24 hour EEG in 6 weeks once she is off the Topamax.  This will involve staying overnight at Children's National Medical Center.  Callie will be hooked up to the EEG for 24 hours to record her brain activity during both awake and sleep cycles.  The test will pick up any seizure activity.  If anything is detected she will be started on the appropriate drug, like Trileptal or Keppra.  I will add these drugs to my research list.  He said they are safer and can be used longer term.  

Here is Callie during her last EEG.  It is hard to imagine having her hooked up for 24 hours and I dread the hospital stay downtown, but it will be good to know what is going on in her pretty little head.



I am a little nervous right now, but it is good to have a plan.  And the thought of her possibly going without harsh seizure meds, at least for a little while, is exciting.  Thank you so much in advance for all the prayers to keep Callie seizure free!

Sunday, February 13, 2011

Peekaboo


Saturday, February 12, 2011

Failure To Thrive


Callie has been tiny since the day she was born.  At birth she was 5lbs, 5oz.  The day we left the hospital she was exactly 5lbs.  They made us go out and buy a new carseat that would better accommodate her tiny body before releasing her.  Here she is at the beginning:

During her first year, Callie was exclusively breastfed.  And I mean exclusive since she did not start solids until 12 1/2 months (up until then she was unable to take in food by spoon).  Her growth was slow and when she would take pumped bottles, I would add Similac NeoSure formula to them to boost the calories.  She weighed 15lbs, 8oz at her 12 month checkup this past November.  I was asked to bring her back monthly for a weight check.  At 13 months she weighed 15lbs, 10oz.  At the beginning of January I started a very detailed food journal.  I recorded every calorie she consumed and worked very hard to feed her as much as possible every day.  I shopped the grocery store aisles for baby food with only 100 calories or more per jar (FYI, BeechNut Mixed Fruit Yogurt and Cinnamon Raisin Granola each have 180 calories per jar), bought the yogurt with the highest calorie content (FYI, LaCreme packs 140 calories per little cup), and tried feeding her things like mashed avocados.  I went into her last weight check two weeks ago expecting to see a gain.  Needless to say I was very disappointed to learn she had only gained 1 oz in 6 weeks... She was only 15lbs, 11oz.  At that point she was formally diagnosed as failure to thrive.  Failure to thrive is a description applied to infants or children whose current weight or rate of weight gain is significantly below that of other children of similar age and sex.  Callie has fallen off the bottom of the growth chart and is no longer following a curve.

We met with a nutritionist who instructed me to "think fat" and add cream, oil, and/or butter to all of her milk and food.  That was two weeks ago.  Since then I have been doing just that.  Let me tell you, it has made me realize I should never cook with heavy whipping cream!  That stuff packs 50 calories per tablespoon.  I have continued to keep a food journal and am happy to report that I am seeing new daily calorie highs.  Our highest to date is 852 calories and I was so happy the other night when I added up the numbers.  This time I am REALLY hoping to see a decent gain at her next weight check on March 1st.  

We feel her Topamax is largely to blame for this issue.  Topamax really takes away your appetite and I can see this happening with Callie.  She never wants to eat.  She will never express that she is hungry.  I gently make her eat all her meals.  She tolerates, but does not enjoy eating.  Her PMG is also to blame.  She has oral motor issues that make it harder to feed.  She often pushes food out with her tongue and is not able to chew more solid snacks.  I remember Owen gobbling up Cheerios, puffs, and any soft foods at this point, but Callie is unable to do this.  She has, however, made huge improvements over the last two months.  At Thanksgiving she could not even take a spoonful of baby food and now she is taking in two to three servings each day.
We have an appointment with a GI doctor and new dietitian in March.  Hopefully we can get this all worked out and get her back on a growth curve before long.  Regardless I think she will always be small and that is okay.  I was always told good things come in small packages.

Sunday, February 6, 2011

Seattle


We live in the Washington DC metro area and have very good hospitals and doctors here.  Callie's first pediatric neurologist at Children's National Medical Center (CNMC) was very experienced with over 30 years under his belt.  At one of our first appointments I asked how many PMG cases he sees and he said the practice as a whole only sees two or three a year(!).  Around that time it hit me how very rare this disorder is.  I had so many questions about what to expect with Callie's development and her future, and I really wanted to talk to a doctor who was more familiar with PMG.  

I began searching for such a doctor and only found one in the entire country.  Dr. William Dobyns.  I joined the one single online group for PMG parents and his name came up in the posts over and over again.  It seemed clear that he was THE doctor.  Unfortunately he was located in Chicago.  I placed a call to his office anyway thinking I would find a way to get Callie to Chicago.  Just my luck they told me he was getting ready to move to Seattle!  I decided I did not care and would take her anywhere.  I was placed on a wait list and then was eventually able to get an appointment for her at the end of October.  

Five months was a long time to wait, so in the meantime I was also able to get Callie an appointment with Dr. Eric Kossoff at Johns Hopkins for a second opinion.  We are lucky that John Hopkins is nearby and they are #2 in the nation for pediatric neurology.  I figured they would definitely be more familiar with PMG and at least I could get some answers while we waited to see Dr. Dobyns.  I was very disappointed to learn that even Hopkins only sees a few cases of PMG each year.  It was hard to understand how that was possible, but at least we were able to meet with another neurologist and get a fresh opinion.  He agreed with Callie's original diagnosis and treatment, and gave us his opinion on the next treatment options if Topamax did not work out.  He felt vigabatrin should be the next drug or we could consider the ketogenic diet (an extreme high fat, low carb diet that helps to control seizures in some people).  He advised we should return to Hopkins if we ever decided to try the keto diet and later I figured out why.  It turns out Hopkins is the premiere center in the world for clinical and research expertise regarding the ketogenic diet.  Dr. Kossoff  is the medical directer for their Ketogentic Diet Program.  So at least I know where to go and who to see if we decide to give the diet a try in the future.

I ended up being able to get a third opinion in early October because we officially switched from our neurologist to Dr. Philip Pearl at CNMC.  I had heard great things about him from a friend of a friend and then when I was able to work with him briefly in August (when he was the backup neurologist who put Callie back on prednisolone which immediately stopped her IS), I knew I liked him.  He seemed like a better fit for us and I was able to arrange the switch without too much of a problem.  During our first appointment with him I knew it was the right decision.  He was great with Callie and the appointment felt so much more personal.  His opinion was essentially the same although he seemed a little more optimistic about Callie.  He was pleased with how alert and attentive she was.

Finally the end of October arrived and it was time to travel to Seattle to see Dr. Dobyns.  I was so nervous and excited. I took Callie by myself because it was not worth flying four of us across the country to Seattle in October.  Maybe if the appointment would have been in Mexico, but not cold, rainy, dreary Seattle.  Callie and I arrived a day early and enjoyed touring the city and taking in all of the sights (luckily the sun came out for one afternoon).  We explored the Pike Place Public Market and the Waterfront.  That evening we took the monorail to the Space Needle.  It was a great day!  


Callie & I at the top of the Space Needle:

The next morning I was really nervous.  We took a cab from our hotel to the hospital and made it with plenty of time to spare.  Those who know me know I am always late.  It turns out I could have been late for this appointment because we ended up waiting for an hour and a half in the waiting area.  It was finally our turn and before I knew it we were sitting in a room face to face with Dr. Dobyns.  And he was wonderful.  All of the effort and expense it took to be there that day was worth it.  He spent two full hours with us carefully examining Callie and patiently answering all of my questions.  

I really wanted to know his best guess prognosis for Callie.  That is really why we had traveled all that way.  He said he felt she looked good considering her MRI and bad diagnosis of both PMG and IS.  He thinks oral motor problems will be likely.  This might mean drooling, eating, chewing, swallowing, and/or speech, etc.  Callie may have oral motor dyspraxia (unable to coordinate and/or initiate movement of the jaw, lips, and tongue on command).  Many PMG kids are non-verbal and this is somewhat likely to be Callie's case.  He went on to say she might also have trouble with some fine motor skills (like clumbsy hands, which may mean sign language could be difficult for her in the future which will be unfortunate if she is non-verbal).  Overall, he said he felt we can be cautiously optimistic.  He said she will have issues, but most likely they will not be severe.  He explained he felt this way because Callie looked alert and attentive, and her tone and movement was good.  Also, her head size is correct (small, but within range) and about 25% of her brain is impacted by the PMG (not great, but it could be worse).  These are all good signs.  He could not stress enough that we must be aggressive when it comes to seizure control.  He urged me to consider talking to Dr. Pearl about switching to vigabatrin to help ensure the IS stay away.  He suggested using vigabatrin for 4 - 6 months and then switching to a long term drug.  He said to push therapy hard and hopefully we will see good development in the next 6 months if the seizures stay away.  

As hard as it was to hear Callie may not be able to speak, I left the appointment feeling good, relieved, and cautiously optimistic.  Even if the future is hard, having a better idea of what to expect makes it less frightening.  I am so glad we made the trip. 










Saturday, February 5, 2011

To Therapy We Go


On May 5th 2009 I was in a fog as I packed up our things in preparation to leave the hospital.  We basically were given this devastating diagnosis and then just sent back out into the world to carry on.  It was strange because nothing had changed, and yet everything had changed.  They handed me a brochure for our county's Infant and Toddler Connection Early Intervention Program and told me to call and get Callie enrolled.  As we drove home I read the brochure.  It said "Babies begin to learn from the moment they are born.  Every baby is different.  Some babies may need more help to learn than others.  By starting early, babies begin to develop the skills they will need for the rest of their lives."  I quietly started crying, still unable to believe our baby girl was one of those who needed more help.  I got a hold of myself and called the number right there from the car to get the process started for Callie as quickly as possible.  Less than one week later a kind woman from the county stopped by the house to drop off paperwork and explain the program.  Two weeks later two therapists were back at the house assessing Callie and within a month we had our first therapy session.  Little did I know how much this would soon be a part of our daily lives.

Fast forward 9 months later.  Callie's typical week includes PT, feeding/speech, and two OT sessions.  We are also just starting to work with a developmental specialist every other week.  Two of these sessions are through the county and the others are private.  In addition, I recently learned about the Fendendrais Method of therapy.  It focuses on movement and can supposedly be very beneficial for children with neurological disorders.  I am looking into this for Callie.  In addition, we will most likely eventually try aquatic therapy and hippotherapy/Equine Assisted Therapy (which uses the movement of horses to help with things like core strength, balance and flexibility).  

Callie is a busy little girl and works so hard during her therapy sessions!  She is making great progress.  Currently she is great with tummy time, is enjoying rolling, can sit unsupported for short periods of time, can bang objects together, just started transferring objects from one hand to the other, and loves to play while kneeling or standing (with support).  I am so proud of every single little thing she accomplishes!








Meds


I have always been a person who avoids taking medication if possible.  I will let a headache go for a couple of hours before I decide I really need to take Tylenol.  (I did, however, enjoy a few doses of Percocet after my c-section.  THAT was good stuff.)  I have had to get over this slight aversion to meds when it comes to Callie.  I don't even recall giving her a drop of Tylenol during her first five months.  Then suddenly I had to administer very serious drugs to her twice daily.  And I was told if those did not work, then there were others that could be considered, although the possible side effects could be even worse.  This was another hard part of the beginning of this journey.

Within hours of being diagnosed Callie was put on the steroid prednisolone.  She responded quickly to this treatment and the infantile spasms (IS) stopped within 3 days.  The hypsarrhythmia also cleared from her EEG within one week.  This was amazing news... we were told not many children respond this well and this quickly to treatment.  This also meant she could avoid taking ACTH which we would have had to administer daily by injection and supposedly would have cost around $70K(!).  One week after starting treatment she was also put on Topamax, an antiepilepsy drug.  Both drugs can be tough for infants.  We were told the steroid would probably cause an increase in appetite and the Topamax would cause a decrease in appetite.  Both drugs commonly cause irritability.  I was worried about losing my happy, mellow baby.  It turned out we were lucky again and she did not get irritable, but she was extremely hungry and wanted to nurse around the clock.  She gained two pounds that month!  Eight weeks later she was weaned from the prednisolone and everything was going great.  I was feeling much better about our new reality and we had adjusted and were moving on.

Then things fell apart again exactly one month after her last dose of steroids... The IS returned.  She started experiencing the same type of episodes and they would last between 5 and 10 minutes.  My heart sank each time I saw her seize.  I felt devastated all over again.  These episodes went on for most of a month while her neurologist kept increasing her Topamax to see if we could get them under control.  She had been on 1.5mls twice per day and was gradually increased up to 7mls twice per day.  In hindsight, I wonder if her sudden weight gain in June and July made the original small dose of Topamax ineffective, but I guess we will never know.  One day I was reading online about others' experiences with IS and I kept reading how important it is to be aggressive with seizure control.  I knew this, but reading it again that day lit a fire and I picked up the phone to call our neurologist.  It turned out that he was out of the office, so I was put in contact with his backup, Dr. Pearl.  I explained the situation and assertively told him I felt like we had waited long enough for the Topamax to work... we needed to be more aggressive to get these spells to stop.  I was surprised at how well he listened, and then he responded and said absolutely.  Based on how well she responded to the prednisolone last time, he wanted her to be put back on it immediately, as in right then.  As I hung up the phone I felt a mix of feelings -- relief to be doing something, shook up because it suddenly seemed so urgent, and upset we did not take this step a week or two earlier.  Regardless, I still had some of the medication left from June and rushed to give it to her again right away that afternoon.  After that first dose she never seized again!!  It worked immediately.  PTL!

In the weeks that followed she was weaned from the steroid differently to prolong the effects.  Her doses were stretched out for 13 weeks.  She last took the medication right before Thanksgiving.  Around that time I spoke to Dr. Pearl and asked him for a med plan if the seizures returned again.  In the previous months we had taken Callie to two other doctors for other opinions.  Both chose vigabatrin as their drug of choice for her.  When I first learned about it, I was completely turned off when I found out it was only recently approved in the US and there is a risk of permanent vision loss!!  How scary.  When we went to see the second doctor who also recommended it, he took the time to explain why he felt it was a good fit for Callie.  He explained it has been very effective in controlling IS and he would only want her to stay on it for a short period of time.  During that time she would have regular eye exams to monitor her eye health (in addition to having a baseline eye exam and OCT study before even beginning the drug).  Also, he explained the vision loss is *peripheral* vision loss (not complete) and it is most likely in children with Aicardi syndrome, which Callie does not have.  He went on to restate the importance of controlling IS and said it would be much more damaging for Callie to have IS than a remote chance of peripheral vision loss.  IS are devastating to a child's development.  He strongly felt it was worth the risk for her and I left the appointment feeling convinced.  Back to Dr. Pearl... He said he was on board for trying vigabatrin next, but felt we should keep her on Topamax until it failed (not proactively switch).  I was okay with this and felt satisfied having a plan.  Two weeks later we took Callie to see a recommended ophthalmologist to have her baseline eye exam completed in preparation for the switch if needed.  We decided to hold off on the OCT study since it involved anesthesia and a half of day in the hospital.  I do not want to put Callie through that unless it is absolutely necessary.

I am happy to report Callie has now been off the steroids for just over two months now and remains seizure free!  The Topamax seems to be working for now. Each night I say a prayer of thanks for another good day.  I do not know how long this will last, but we are hoping for the best.

In addition to these drugs, Callie takes Zantac for reflux and sometimes Miralax for constipation.  I am now used to giving her multiple medications each day.  This is just what we need to do for our baby girl.  I try to keep everything in perspective and know it could be so much worse.  

Wednesday, February 2, 2011

How it all went down



Our beautiful baby girl was born in November of 2009 and was given a clean bill of health.  The first 5 months of her life were some of the happiest of mine.  Callie so perfectly completed our little family and I was blissfully happy.  One night while the four of us were together I remarked to Allen that things seemed so perfect, almost too perfect, and I felt like something bad was going to happen to spoil it.  It was as if I knew things could not stay that way.  And tragically, they did not.  One evening at the very beginning of May 2010 Callie's little body started slightly tensing and relaxing while I was holding her.  It was like she was trying to pass gas.  I was busy with Owen, the tensing episode passed, and I did not think anything of it.  When it happened again the next night while I was holding her I realized she never passed any gas or dirtied her diaper, but again did not think much of it.  The third night it happened while she was laying on her changing table.  I got a different view of what was happening this time and realized her face was slightly grimacing when she tensed.  Also her arms and legs raised and lowered a little each time she tensed.  The episode lasted for about 5 minutes and then she was fine.  That is when I first thought this was a little odd.  I still did not feel too concerned and nothing stood out when we looked it up online, so I decided to just call the pediatrician on Monday since it was the weekend.  Monday came and it was a particularly nice, sunny day.  Callie slept late and I enjoyed the morning with Owen.  Looking back it boggles my mind to remember how perfect the day started and how terrible it ended.  When Callie woke up she had another episode and I went ahead and called the doctor's office.  I described the episodes and was very surprised when the nurse instructed me to take Callie to the ER to rule out seizures!  Seizures??  I remember thinking this seemed like an over-reaction, but okay.  I called Allen at work to let him know and got the kids together.  Believe it or not, this was our first trip to the ER.  I don't know how it is possible that we had a nearly 4 year old boy and never spent time in the ER, but I guess we were lucky (until this point).  

The hospital is about 5 minutes from our home.  We checked in and Allen met us there.  I had taken a video of Callie's episode and showed it to the nurse and doctor.  They did not say much, but ordered a CT scan.  The results came back abnormal, but they did not really explain what that meant.  Instead, they just said they felt that Callie should have a MRI so that they could get a better look.  The only catch was we would have to be transferred to another hospital for this test because they did not have the facilities for an infant MRI.  So we had to be transferred to another area hospital... by ambulance!  Another first.  Things started getting scary at that point.  To see Callie's tiny little body (less than 12 pounds at the time) hooked up to an IV, strapped onto a large stretcher and loaded onto an ambulance... that was hard.  But nothing compared to what was coming.  

Callie and I were transported and checked into the other hospital about 40 minutes from home.  It was an exhausting night.  We arrived late and then I was interviewed into the wee hours of the morning by a doctor, a resident and a medical student who followed them around.  They did not know what time the MRI would take place the next day, but I was not allowed to feed her in preparation for the test which required anesthesia.  Long story short, we finally had the MRI early the next afternoon.  It was hard letting Callie go to be put under.  About an hour later she was back in my arms and I was finally able to feed her (it had been 12 hours at this point... she normally ate every 3).  She was exhausted and fell back asleep in her hospital crib, which was good because the next test was an EEG.  She slept peacefully while a man hooked up a series of wires to her head to measure her brain activity.  I did not really understand the test and significance of it, but I would just two hours later when a serious looking pediatric neurologist entered the room.  At that moment our lives were changed forever.  He explained Callie was experiencing infantile spasms.  This is an uncommon epileptic disorder in infants.  The EEG revealed hypsarrhythmia, very chaotic and disorganized brain waves with no recognizable pattern.  The underlying cause of her seizures was a very rare brain disorder called polymicrogyria (PMG), specifically bilateral perisylvian polymicrogyria.  He went on to say he did not know if she would ever walk or talk... she would have physical and cognitive challenges, it was just impossible to predict to what extent.  It is hard to describe how it felt to receive this devastating news.  I felt numb at first.  Then sad, so very, very sad.  My heart had broken into a million pieces.  


This is Callie just before she was diagnosed.  When things were perfect.

I am relieved to report that time really does heal.  Callie brings us so much happiness each and every day.  My heart swells with love for her and I have made it my mission to do anything and everything possible to help her stay happy and develop to the best of her potential.  
 

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