Looking back

I know that I have been quiet.  As the title of my last post was “long year” or something like that.  It truly has been a long year.  Elizabeth is doing well.  She loves school and her teachers and friends.  Charlie loves school as well.  He enjoys playing with friends and learning new things.  He participated in an early intervention preschool for his speech delay and now he won’t STOP talking!  He really is a mini-me.  If you don’t believe me, ask my Mom!  He is my pay back!  haha  This coming school year, he will be attending a new to him school at our new parish, St Joseph of Cupertino in Cupertino.  I think it is a perfect match.  He is toilet trained now and is doing great!  I hesitate to write about Elizabeth since she has been participating in the IGF1 trial in Boston since last July.  We are back in Massachusetts for the 2nd half of the trial following the washout period.  As much as it feels good to be working for a change, it is also hard.  It is hard work changing the world and making sure my girl is safe while doing it. She is a trooper.  Overall, she is extremely healthy. Extremely brave and extremely good natured.  She still has a great appetite.  And is so sweet and loving.  She is on a forward moving path with communication, it is all a matter of time before she tells us off!  The one thing we learned during these past 2 weeks of autonomic testing is that the original Snow White and the Seven Dwarves is SOOOOO boring.  We both fell asleep! Frozen on the other hand made her squeal and rock!  Till the next time I have a free moment.  Love and hugs to all!

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    A long year…

    This past year has been a lot of things.  The one thing it has not been is unsuccessful (yes that is a double negative;)).  That is saying a lot when you think the past 365 days.  October has always been a turning point for me.  Last year in October, we made a HUGE move to Northern California.  My sweet little boy’s birthday was last week and he learned how to sing “Happy Birthday to you, Happy Birthday to you, Happy Birthday Charlie, Happy Birthday to you”. It was the sweetest thing ever and a whole new ball game for us (WooHoo for SF Giants on your 2014 World Series win tonight).

    A “new” friend, well actually an “old” friend because she is my Dad’s cousin.  She has lived in the Bay Area for at least 30 years so though we “know” each other and stories we had never met in person until we were on the other coast (Maine) this past summer.  She has always been a supporter of our family and especially of Elizabeth.  She has a way about herself and just knows.  She read an article in the New Yorker recently and saved it for me and mailed it to me and sent me bookmarks because we both have a love of reading paper books:)  You are probably wondering, well “What did she do?”  “What did she share?”

    I tried to scan the article, but it was “No Bueno”.  So I searched for it and found it online!  SCORE!

    http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2

    This article showcases the struggle parents face when faced with an unknown genetic disorder and how we reach other to others to find common ground.  These parents used social media and internet blogging to reach out and find other parents with children with potentially the same disorder and they found some!

    Rett Syndrome was this way…30 years ago.  It was a little known genetic disorder with diagnostic criteria but not until 1999 (15 years ago) did it have a genetic known basis that could be tested by blood work.  Rett Syndrome has a large community now that is tight knit but it is a cracked community.  I have only been in “Rettland” for 3 years, but it hurts to see.  We should be embracing each other and ALL research and ALL attempts at trying to alleviate symptoms.  We should be all working together and accepting that if there was only one way to crack the code of Rett Syndrome that we will never get there.  Rett Syndrome is complex and to solve a complex problem we need to look at it at different angles.  With more “eyes” and opinions and educations, we will get there.  If one thing doesn’t work, another thing will.  We are at at a turning point.  There are clinical drug trials, we know what causes it Rett syndrome and how to fix it, but can we do it in humans?  That is the key.  The human side of research.

    We are participating in the IGF-1 trial in Boston and stand by it and the Doctors and Researchers who are helping bring “research to reality”.  If people don’t participate in the IGF-1 trial, how can we know whether it will work and whether it will help.  If it doesn’t work and doesn’t help, we won’t know that until we try it.  If it doesn’t work, then that will lead us to new and different research.  We need to remember that there are people behind research, doctors and researchers and family and parents and patients.  In this case, the patients are children.  They are the most important.  The patients are the most important.  They are the human side of research…Our children, our life and our legacies.  I want to leave our footprint on the world and I think we are doing it.

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      Sweet Brothers

      Charlie will be 3 in October. He is wise beyond his years. He takes care of his big sister. He gets her cheese when he gets himself a piece. He takes her hand and helps her step over the threshold of the door. When she goes to put her hands in her mouth, he gently blocks them and says no hands or no mouth. She falls down, he runs over to her and asks if she is OK. He hugs and kisses her. She cries, he runs to her and says “No cry Z” and will help her get what she wants or then try to communicate to us what she is trying to communicate to us and is unable. He climbs into bed with her and pats her head and says “I love you Z, good night” and gives her hugs and kisses. He does not see a disability. He sees unconditional love and he responds by giving the same to her. If adults could do the same thing, this world would be a happier, more loving and peaceful place. See the person, not the disability.

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        “Where there is love there is life.”

        So much has happened since I last posted and it has only been 1 month:)  We received notification at the end of July that our landlord was not going to renew our lease so we would have to move by August 31.  We get home from being in Boston for 2 weeks to get through Phase 1 of the IGF-1 clinical trial and BAM, we have to start house hunting for a reasonable rental that allows dogs and was close enough to her school so that we could hopefully keep her in that program.  Elizabeth is set to start school August 18 and moving is a huge transition for anyone, but most especially Elizabeth.  Fortunately, after explaining to her that we are just changing houses and that all her friends and therapists and teachers would still be near by she changed her tune.  She has been a trooper.  Charlie has been off, but I don’t blame him either.  In his short almost 3 years, he has been in 3 homes.  He doesn’t know if he is coming or going.  HaHa just kidding.  We keep reminding him and Elizabeth that we are all together and it is just a different building with all our stuff (which we have a lot of…moving from a 3600 sq ft house to a 2500 sq ft house to now a 1900 sq ft house has been interesting…people are getting some good deals and we are going to get some great tax write offs).  Today, on our 4th day in the new to us house, phone, internet, and cable are now connected…So when you haven’t had tv in 5 days what do you do? Bing watch Disney Jr… No unpacking, no running around, just chilling.  It was nice.

        Back to the moving…even though we switched school districts by moving, Elizabeth gets to stay in her program as she was in a county program.  The new school district reviews her program and then says Yes, she can stay in the program or No, we have something comparable.  With school starting on Monday, I was hoping that they would keep her in that classroom.  They approved her to stay where she was so Yeah for small favors.  She starts full day kindergarten in a K-2 classroom with some inclusion.  My biggest focus this year and has been since age 2 is functional communication.  She is achieving so much and understands everything, we just need her to be able to get it out!  Overall, she is doing well.  She is learning how to communicate using pictures and icons.  She knows how to use a adapted computer switch.  She has played on an eye gaze computer.  After going to the Rett conference in June, I know that she will be able to read and write, but just differently.  One step at a time, but this is something we have to start working on.  Age appropriate learning is key.

        She has been on IGF-1/Placebo injections since July 23 and she has taken each shot like a champ (shots twice a day and blood glucose testing twice a day when the dosage increases, which is does every 7 days for the first 3 weeks).  She barely flinches and is a super rock star.  It is hard to change the world, but when we see an opportunity to do it, we jump on it.  One day, one shot at a time.  Do we have a feeling one way or the other on whether it is IGF-1 or the placebo?  Not really.  I try to stay optimistic, but I also try to stay objective.  Yes, she is a child, my child, so how can one remain objective.  We signed up to participate in a major research study and clinical drug trial and we value honesty, integrity, and accurate data.  We want to help our daughter, but we also want to make sure that we can help others.  If this leads the way to do that then we need to be clear and honest and concise…we need to make sure that objectivity remains in tact.  I am as much as part of this clinical drug trial as she is.  There are interviews and data sheets.  There are rules to follow and symptoms to watch for, but in the end it is about making her life better…even if just a little bit.

        She didn’t enjoy the testing, but she enjoyed the quiet time (semi non-scheduled 2 weeks) we had in Boston, but she enjoyed alone time with her Momma.  She also enjoyed time with her Grandparents, her Aunts and Uncles, and cousins, and all her Boston area friends.  Another family who is participating in the IGF-1 clinical trial shared a quote from Mahatma Gandhi and I leave you with his thoughts…

        “Be the change that you wish to see in the world.”

        and

        “Where there is love there is life.”

          Posted in Elizabeth, Rettology | 1 Comment

          Oh The Places You’ll Go!

          So…Back in October, we took a leap of faith by moving to California.  At the same time, we took another leap of faith and applied to have Elizabeth participate in the IGF-1 drug Clinical trial being run out of Boston Children’s Hospital.  This study is a double-blind cross-over study that require a lot of commitment from the families (as well as the researchers).  Elizabeth qualified for the trial, but we had to stabilize her schedules.  With our move to California, we had to stop all therapies and schooling for some time.  Finally in March/April (after 5 months), we had all her therapies consistent.  She does OT and hippo therapy (horse riding therapy) and of course schooling.

          We set off on a course to do the screening visit July 14 with the first study visit to commence the same week.  This is the end of our first week here in Boston.  We arrived Sunday morning after a 5 1/2 hr red eye from San Jose.  Both kids did great.  I did not sleep, but sleep is for the weak, right? :)  We are lucky in that I grew up in Massachusetts and our family (parents and siblings) are within 30 minutes from Boston.  Elizabeth has been an absolute rock start this week.  She has had blood work and done lots of baseline testing.  She is a champ.  we have been up at 5:30am every day this week and driven into Boston and the first time she complained was today.

          We have met lots of amazing people in route to our destinations for a cure for Rett Syndrome.

          First, I will start with JetBlue.  The staff and flight attendants were amazing and helpful.  They stepped up and helped get the luggage and kids off the plane (2 kids – 1 parent = completely outnumbered).

          Second, Hertz…we had a rocky start with no EZ-Pass transponder, but the extremely diligent cashier was able to find me a comparable car after an hour of me waiting with a transponder…Not sure if she felt bad for me waiting or what!  But their employee gets credit for going out of the way.

          Thirdly, and really they should be first because that is really where they belong, but we are working in order of attainment this week… My parents and siblings.  My parents for giving up their some of their planned summer vacation to babysit a whiny 2 year old and to support our efforts to get Elizabeth in and out of Boston every day this week.  My siblings for stepping up and help in the same way and being consistently supportive.

          Fourthly, the amazing stranger who is a Boston CHildren’s Hospital employee who guided me by walking partially with me to my initial destination on Monday without question.  She sought me out and asked me if I needed help. I really didn’t need it, I was looking at directions and reviewing instructions, but I took the helping hand:)

          Fifthly, the amazing nurses, doctors, researchers, research assistants and every one else we have come into contact with at Boston Children’s Hospital for making it look easy and making it easy every step of the way.  There is much drama in a 5 yr old’s life and much exhaustion when it comes to participating in major research (clearing my throat)…and they take it all in stride.  They attempt to make her smile, laugh, and attempt to soothe her when she is hysterically crying and no one else knows what to do.  Sitting on the floor in knee length dresses (never would I do that…but some of these ladies…they are amazing!) and btw did I tell you, some of them are in heels!  Say what!!!

          When in Rettland (thanks Colleen)…sometimes it can be isolating.  When we are in Rettland, we lose ourselves and it can be scary.  But we pull up our boot straps and move along and live another day.  Participating in ground breaking research…is SCARY.  You don’t know what to expect.  I had panic attacks every day last week before leaving California for Massachusetts (And I have family here…I grew up here…I am here).  The unknown is scary, but ignoring the unknown is far more scary.  We have to takes risks, calculated risks for ourselves and our children to better their lives and our lives.  We need to show courage in the face of adversity and show that we support the Doctors and researchers who know they can find a way to better our children’s lives.

          A random mutation is like winning the lottery.  You are a celebrity.  Isolated because you don’t know if people are nice to you just because or because they see a greater purpose…  Does my analogy make sense?  It is a crappy way to look at it, but really it is true.  I had a better change of having a child with Rett syndrome than winning $1 million dollars.  haha  that is quite funny.  I know some people would change it, I would be lying to say that I wouldn’t change it for $1 million dollars, but if I took Rett syndrome away from Elizabeth…I would change who she intrinsically is…it would change all the people I have met and it would change who I am.  And let me tell you…If you have to belong to a special needs family, there is NO other family like the Rett Syndrome family.  Efforts are always made to see each other, even if only for a few minutes for a hug and laugh and sweet baby kisses.

          Elizabeth and rett syndrome, has made me a more genuinely caring person.  I look at people rather than their disability.  I am still curious, but I am aware.  I see the person, not the disability.  It has brought me to a career I would not have found without a child who has a profound disability.  I have been a special needs parents, but also an advocate.  In the past week, I have become, along with my beautiful 5 yr old daughter, part of a clinical trial.  It is exciting and scary and wonderful and exhausting and eye opening.  There are so many details that go into a clinical trial and you only see it if you are a part of it on the patient side or the researcher side.  SO MUCH DETAIL!  It will be a brutiful (brutal and beautiful) experience.

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            Rett Siblings (or siblings in general)

            I have some pretty amazing siblings in my life…

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              Boston and Washington DC – Trials and Conferences!

              Sorry that my blog posts are sporadic lately.  We have been one busy and crazy family.  I do realize that me talking is beneficial to some people (my husband would probably disagree;))

              After almost 3 years into our Rett life, I was finally able to go to a rettsyndrome.org (formerly IRSF) family conference.  The main reason I have been unable to attend is that it has been before our family travels back to the Northeast to visit our families for the 4th of July.  This year, plans were and are different because of my amazingly brave daughter.  Elizabeth will be going to Boston to hopefully participate in the IGF-1 clinical drug trial out of Boston Children’s Hospital.  We have done 3 screening phone calls and then will do the in person screening visit on July 14th.  As long as all goes well on this screening visit, we will start her first 10 day visit to Boston to participate in the trial.  It is a double blind cross-over study to test the efficacy of IGF-1 in treatment of Rett syndrome.  We are very excited that we can participate even if we do have much west coast/east coast travel to be doing in the next year and one half to participate.  We are doing it all in the name of Rett syndrome and in the name of research so we can help our friends with Rett syndrome and future generations of kids that will be born with Rett syndrome.  We strive for a cure and this is a step in that direction.

              For more information, please see rettsyndrome.org’s press release… http://www.rettsyndrome.org/press-release—igf-1-phase-1-rett-syndrome-clinical-trial-deemed-safe

              Back to the rettsyndrome.org’s family conference.  This year the conference was held in Chantilly, VA.  Chris and I decided where it was on the other side of the country and that the kids and I will be traveling a lot in the next coming year that I would go solo.  No complaints from this stay at home mama.  4 days by myself with people who get it and a cozy bed in silence with no snoring or calling out to Mama!  Heck yes, sign me up.

              Another local Rett mama, who I have become friends with in our short time on the West Coast, was on the same flight as I.  We someone managed to almost be next to each other.  We started the trip off a little rocky with a flight delay scare, but Virgin America found another plane and got us on our way only 15 minutes later than expected, but almost 1 hour quicker had we waited for our “assigned” plane to arrive.  We got into DC with no problems, other than me not being able to sleep.  But I can run on empty for a bit.  We got to socialize a bit and I got to meet our Boston Children’s Hospital Rett syndrome team. They of course recognized Elizabeth’s name:)

              The conference started at 5pm and I had a strollaton meeting at 3pm.  It was great to get ideas and I am going to be shadowing and helping out with the NorCal strollathon chair instead of running my own entire strollathon like I did last year in Central Texas (an awesome Grandma is doing that one again this year).

              It was amazing to be in a room filled with families, friends, teachers, therapists, scientists, doctors who have an interest in helping our children with Rett syndrome succeed in this world.

              The conference was a world wind of information and I learned so so much.  Our keynote speaker was Emily Perl-Kingsley who wrote “Welcome to Holland”.  I only knew her for this passage, but she has been a writer on Sesame Street for 40plus years and is Mom to a now adult with Down syndrome.  She was inspirational, honest and an advocate for children with special needs even before it something people did.  She asked the producers if she could include children with disabilities on the show and they said Yes.  Pioneers  Can you imagine a time where it was socially accepted to institutionalize your child because they had special needs.  This makes me sad.  It is also is an eye opener that we have come a long way in a short time in the special needs world and in the Rett syndrome world.

              I say that we have come such a long way in a short time in the Rett syndrome world because it has only been a “known” disorder in the United States of America for 30 years.  30 years!  30 years ago, the medical article was originally in German and was translated into the English language in 1984.  Dr Rett came to the US and met many families and actually confirmed their diagnosis’s.  The first family conference was in Baltimore, MD (the same area as Chantilly, VA).  Dr Alan Percy of UAB (University of Alabama – Birmingham) was on the front of Rett syndrome and he has been actively involved his entire medical career in figuring out how to alleviate/reverse Rett syndrome and cure Rett syndrome.  Will a cure be possible?  I hope so.  Dr Percy gave several talks and one of them  he ended with his telling us what Dr Rett would think about where we are in treating Rett syndrome.  In my words, “Damn proud”.  I have only had little interaction with Dr Percy in the past as we were at Texas Childrens with Dr Glaze.  I truly appreciate Doctors who are emotionally and physically involved in their patient’s care.  Dr Percy had tears in his eyes several times over the weekend because he KNOWS how close we are to unlocking the neurology of Rett syndrome.  If you haven’t thanked a Doctor lately, thank yours.  They work their butts off and try to make a difference and when they do, they need to hear our voices on behalf of our girls or even on our own behalf.

              I learned about all the trials going on and the science behind it.  The genetics of Rett syndrome.  I got ideas on how to teach Elizabeth to read and write through adaptions.  There is so much technology to help our children communicate who communicate in non-tradional ways.  So much, so much information.

              In the midst of this learning-palozza, I met new and “old” friends.  I say old friends because we have such a things as internet and social media and blogs and we are able to connect with people via cyber-space that we could never have connected to easily before.  I can imagine life before internet because I lived it, but not as a special needs parent with a child with a rare disorder.  The Rett syndrome community is very welcoming and we all work for a common cause, to make our children’s lives better and to Cure Rett.  30 years ago, it was landlines and letters and lots of travel if you could afford to do that.  Those parents are helped paved the way and we are doing the same for parents who come after us.

              I met a friend who lives in Texas (not too far from Austin) who after her daughter’s diagnosis was given my blog website by her father-in-law who was given it by one of his clients in Austin who’s wife’s friend had a daughter with Rett syndrome.  YES, YES, YES.  Awareness at the highest value.  Even though we do not see them on a daily basis and have moved from the area, they KNOW the importance of community and the importance of putting this newly diagnosed family in touch with the Rett syndrome community.  My first thing I did when I came back from the conference was to call this family and say THANK YOU.  Thank you for loving my child and my family and making a difference to this family and making their road a little bit easier and much less lonely.  You know who you are and again I thank you and thank you and thank you.  Love and miss you dearly…till we meet again.

              The whole experience was amazing, I have a hard time putting it into words, but the exhaustion fro this past weekend was well worth it.  In 4 days, I got 20 hours of sleep in 96 hours and learned so much and enjoy many after hours drinks and after hours chats.  I would not trade the opportunity to go in a million years and am already planning next year wherever it shall be and I have already volunteered to help…

              To everyone who made the 30th annual conference possible, thank you.  For all the parents and educators who were there who shared their experiences, thank you.  For all the grandparents, thank you.  For all the scientists, researchers, and doctors, thank you for making our daughter’s a priority and seeing them in everything you do.  For all the therapists and disability advocates out there, thank you!

              In the stages of grief, I am in between 4 and 5.  In between depression and acceptance.  And I think that is ok.  I have accepted Rett syndrome, but that doesn’t mean that I am going to stop fighting to help my daughter and all her friends with Rett syndrome.

              If you are reading this, please consider coming to a conference regardless of how you are related to Rett syndrome.  We need everyone on board.  All Aboard…Let’s do it!

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                This is your brain on drugs…

                So, you are wondering…what that heck is with that title? I was thinking about when I grew up. There was a commercial, an anti-drug commercial and it was an egg…This is your brain on drugs…and there was another one, I learned by watching you Dad! Those commercials did their piece, I remember!
                So what is a legacy we leave for our kids, what do they remember. Yesterday, I was bathing my kids. I was showing Lizzie how to play with the boat and she was holding it there, Charlie took her other hand…hand over hand, she showed her how to hold the boat and zoom it around the tub. It was the most beautiful thing I have ever seen in my life. My 2 year old little boy taking the time and care to show his almost 5 year old sister how to play with something. I thought were did he learn how to do that…watching us, watching her therapists. Rett has changed all of us, but it has made us all better and more caring and more sensitive human beings. I am sure Charlie would be as sweet if he did not have a “special” sister, but he is all the more sweeter and caring because he has learned how to take the time and show her the joys of life. Some day, he will say “I learned it by watching you Mom!” and it will have a good connotation…love my kids

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                  I was not ready for this…

                  I was not ready for this…I was not ready for this. I knew this day was coming, but it was a day that I have put off for 18 months. Elizabeth’s pediatrician in Austin had given us a prescription for a transport stroller and we never used it. I could not bring myself to do it. Then we moved to California and Elizabeth is getting taller and heavier. She is mobile, very mobile, but she can not walk for as long as a typically developing 5 year old. She tires very easily. She is 43 inches tall and is literally dragging her feet in the “baby” stroller.

                  We have a lot of travel coming in the next year as Elizabeth was preliminarily chosen to participate in the IGF-1 clinical trial for treatment of rett syndrome at Boston Children’s Hospital. We do her screening appt on July 14 and as long as she still fits the criteria, she will start the same week. We will spend 2 weeks in the Boston area, which her Grandparents and Aunties and Uncles are VERY excited about! We may even be able to sneak in a weekend trip to our families cottage in Rockland, Maine…definately one of my happy places.
                  Anyway, I digressed…So, a few weeks ago I called Eliabeth’s pediatrician here and she gave me the prescription for a “specialized transport stroller” to leave it open for the technician/ customer service rep/sales person to figure out what was best for her. I asked some local families who they use in the south bay area and called them and made an appt. Wooh, that was hard. It is not something that any parent should have to do, but today was the day. The rep called me this morning to learn more about Elizabeth and her needs. He then came out this afternoon and showed us 2 Convaid strollers. It was pretty painless, but as both strollers were up in my living room, I said to the rep “I am SO not ready for this” and he said “I know, let’s see what Elizabeth likes”. And Elizabeth sat in both strollers and almost fell asleep in one so that is the one we went with;) Pretty painless. A few measurements. A few options, like transit ready. That was a tough one. Will we ever use it? Who knows, we went back and forth and back and forth and then went for it. It helped that Elziabeth’s ABA therapist was here so she helped with the decision. I did let Elizabeth pick it, but we hid the pink from her. Pink is just too much…Per the rep, it is bright and bold and very pink! haha. So we showed her black, blue, forest green, purple, and red. The only 2 colors she responded to were black and purple. She consistently looked at me and smiled with the purple…so we went purple. I was trying to avoid the purple b/c it is my favorite color and the Rett awareness color. Furthermore, I know she prefers pink but I could not do it…I just could not and purple is the next best color right?!
                  It was not an easy week and I was grouchy all week. I was told to blame it on the lunar eclipse as it wasn’t just me that was off….and then today happened and a friend sent me flowers that arrived at the same time we were discussing the stroller options – perfect timing I would say. A weight is lifted off my shoulders until her new ride arrives. Till then we can still live in our fairytale land of no “specialized transport stroller”, but it really will help with her quality of life so that she can enjoy trips rather than struggle because she has walked too much.

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                    6 runners, 2 days, 195 miles in honor of Rett Syndrome – GP2C

                    6 runners, 2 days, 195 miles…all in honor of our girls with Rett Syndrome. Allison Foley, a fellow Rett mom will be running Mile 18 in honor of our daughter, Elizabeth Claire. The race is this coming Saturday/Sunday, April 4-5 (Huntington Beach to San Diego, CA). Allison will be running this mile at approximately 2:48pm (pacific time). Let’s help raise $20,000! We are committed to trying to raise $100 of this…that is $10 per person:) Let’s get do it! http://girls.girlpower2cure.org/elizabethclaire

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