Rett Syndrome

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    Paula Vigil

    What I Hoped the World Learned From COVID-19

    Isolation is terrible! It’s lonely, it’s stressful. It wears on families, relationships, mental health and that is just the tip of the iceberg! It drains resources. It hampers earning possibilities and income. In essence the isolation of caring for a family member with severe disabilities and complex medical issues affects every single part of daily life. As I watched the entire world come to grips with the fear of an unknown disease and unknown outcome, I thought finally! Finally, they will get it! They will get that their health decisions affect the whole world! Your decisions when you are ill affect those around you! Just as your decision to drive drunk, run a stop sign, speed through a red light can end in not only your injury, but the injury of others, your decision to leave the house while sniffling, coughing, or feeling ill can lead to the illness and death of not only yourself but of others as well. I’ve tried, unsuccessfully, through my daughter’s disabilities and disease to explain to others how their decisions to “tough it out” or “carry through” end in life or death situations for others. How going to work, school, shopping etc. when you feel ill or are displaying symptoms, isn’t heroic. You may end up only displaying mild symptoms but the chronically ill person standing next to you in line at the grocery store ended up hospitalized! The person you work with that is fighting cancer and is immune compromised from the chemotherapy ended up fighting not only those battles, but the added one of your “small cold.” They ended up hospitalized or worse. The medically complex child at school got your “sniffles” and ended up in the ICU for a month. You are not “strong” for doing things or going places when you don’t feel well or are displaying symptoms! You are dangerous and sometimes down right deadly! Not just today, not just COVID-19, but every single day. People realize stopping at a stop sign isn’t just for your safety, but the safety of others. Stopping at a red light is for the safety of everyone on the road. Staying home when you don’t feel well is like stopping at red lights and obeying speed limits when you’re late for work, the cost is small, it may be noticeable and uncomfortable, but the alternative could be so much worse. Choosing to run that red light may get you to work, or it may end in your death or someone else’s! I thought finally! Finally people will realize how stressful, scary, isolating it is to be in constant fear of someone exposing your child or loved ones to a minor symptom that could end up being deadly! Finally! People are going to realize how the whole world would just run smoother if you stay home when you don’t feel well! Finally! People will not only realize the loneliness that comes from isolation, but every other very real problem we’ve encountered for every single day of our child’s life. People will realize what it is like not to go to movies, to work, to restaurants, to parties, because of the danger. The loneliness! The mental strain! The complex issues with child care just to go to the grocery store. How living a normal life, work, socializing is a pipe dream. Finally, people will realize what they experienced for a few short months, we have been living for years. Instead, here we are. We are in another wave of COVID-19 that has been even more deadly than the last. Here we are, debating whether killing those weaker than ourselves is a choice of personal freedom. Is stopping at a stop sign a political choice? Is stopping at a red light? Is driving drunk an expression of personal freedom? I had hoped we would realize that staying home when those sniffles may kill your best friend was a small sacrifice to make, like calling a cab when one has had to much to drink, even if calling a cab is expensive, the alternative could be so much worse. Those of us who have lived this life for years were hoping this would bring the rest of the world into understanding just how much we have given up and sacrificed for the health and safety of those we love, and for those we have never met. For those who have lived this isolationist life for years, watching the rest of the world lose their minds over a few months has left us baffled.The whole world is counting on the choices we make. The life you save when you stay home, wash your hands, and isolate for a few days, may be your own, it may be the girl with Rett Syndrome down the street. You may miss a party or the release of a new movie, they may end up missing weeks in the hospital, ICU, or even worse. I’m here to say thank you to everyone who has sacrificed, missed out, or felt isolated. You are not alone. You are truly heroic.

    Julia Metraux

    'Magnolia's Hope' Documentary on Rett Syndrome

    When her daughter Magnolia, whose nickname is Maggie, was having trouble with movements and losing her ability to speak, Jenny Tesler started to document her daughter through video for medical purposes. At the age of 3, Maggie was diagnosed with Rett syndrome, a rare neurological disorder. Rett syndrome, which is caused by a rare genetic mutation that affects the brain. Approximately 1 in 10,000 girls in the United States are diagnosed with the condition, according to the National Organization for Rare Disorders. From ages 7 to 18 months, girls with Rett syndrome typically hit standard milestones — like crawling, walking, and talking — before starting to lose these previously acquired skills. After receiving the diagnosis, AJ Tesler, Maggie’s father, started to look for videos on how Rett syndrome affected the lives of girls like his daughter at different ages. He found close to nothing. This led to the Teslers documenting Maggie’s life and symptoms on their YouTube Channel and blog, both titled “Magnolia’s Hope.” “We started to share those videos in case there were parents looking for a connection to somebody who has been through the same thing,” AJ said. Eventually those videos turned into a full-fledged documentary. The documentary “Magnolia’s Hope,” released on Tuesday, shows the path to Maggie’s diagnosis, how different treatments and therapies have helped Maggie, and Maggie’s participation in a clinical trial. “Magnolia’s Hope” documents the ups and downs of different therapies and treatments, which may be all too familiar to those with rare diseases. After Maggie lost the ability to speak, AJ and Jenny learned Maggie could still communicate nonverbally, which led them to push harder to help Maggie with her communication skills. There are still ups and downs. “She has great days where she can communicate a lot, and then there [are] other days where the apraxia component of Rett gets in the way and she just can’t.” Also an experience that will be familiar to many in the rare disease community, the Teslers have also been looking to new treatment developments. When Maggie was 5, she participated in the phase 2 trofinetide trial for Rett syndrome. Maggie did not experience the type of improvements her parents had hoped for, which led Jenny and AJ to consider removing Maggie from the trial. Through personal conversations and interviews in Magnolia’s Hope, AJ and Jenny speak about how funding for clinical trials could lead to treatments helping manage symptoms or curing Rett syndrome. (The Teslers cite a 2007 study as evidence that Rett syndrome could be cured). “I look back at that experience, and it just depends on the week, she really had major ups and downs during the trial,” Jenny said. While research for the management and cure of Rett syndrome is ongoing, Jenny said it feels like it is taking “a long time because we’re living it.” Through communication with Maggie, now 10 years old, AJ and Jenny have changed what they publicly share about her life. “Around the time that we were finishing this documentary, [Maggie] told us that she didn’t want us to be making videos anymore,” AJ said. They stopped posting videos for a long time. If videos of Maggie are shared for fundraising initiatives, Jenny said these videos are approved by Maggie. While supporting Maggie with Rett syndrome, both AJ and Jenny find it important to help her experience the best life that she possibly can. In “Magnolia’s Hope,” this can be seen in the adventure sports she has participated in, like gymnastics, surfing and skiing. While COVID-19 has affected what the family can do, AJ and Jenny want to help Maggie continue to be happy and thrive. “We want people to know that just because Maggie has Rett syndrome, it doesn’t mean she doesn’t live a full life,” Jenny said. “I want other families to not give up. It’s hard to be isolated at home. We’ll all get through this together.” You can stream Magnolia’s Hope from Dec. 1-31 for $10 here. Proceeds from the film and merchandise support Rett Syndrome Research Trust.

    Community Voices

    Our Journey to Diagnosis

    Jordyn-ann was born after we lost our 7.5 week old son due to severe reflux who passed in December 2013, he was an organ donor. Little did we know, when JordynAnn would be born she would struggle from the very start. From severe reflux, apnea, jaundice, she even had to be hospitalized at less than a week old in the PICU. She then struggled with recurrent 104-105 degree fevers starting at 4 months old and also has tremors and odd involuntary limb movements. The odd involuntary limb movements started around 6 to 7 months old. At this point is when we got a little scared, we didnt know what was causing our baby girl to struggle as badly as she was. She would have apnea episodes every night. The shrill of her apnea monitor alerting me she has stopped breathing would wake me up from a dead sleep to stimulate her to breathe again. She has global developmental delays and didnt sit up until 12 months old as well as didnt walk until 17 months as well as having visual impairment (Optic Optic hypoplasia and CVI). She struggles with balance, coordination, depth perception, and weakness and has to wear AFO braces. She is also nonverbal and cant speak a word to us, she just turned 4 on Oct 28th.

    Some doctors wanted to diagnose her with just having autism and dismiss her…they didnt want to figure out what was causing her other complex medical issues. I fought that diagnosis because I knew Autism was not the only reason she was struggling. Some of her other doctors also agreed with me, there was more to it than JUST autism alone.

    I always wonder what is going through our little girls mind.

    It was once thought she had #AngelmanSyndrome, Pitt Hopkins, or #RettSyndrome.

    After seeing several different geneticists and doctors, with some little diagnosises, we still couldn’t figure out the bigger picture of it all.

    She has Severe Autism, severe expressive and receptive language impairment, gliosis scarring, seizures, recurrent fevers, developmental delay, Optic Nerve Hypoplasia, CVI, absence of speech, tremors, brain abnormalities, hand wringing, teeth grinding and jaw clenching, breath holding and hypo ventilation episodes, involuntary limb movements, nonverbal, sensory issues, weakness/fatigue, coordination and balance issues, toe walking and #FootDrop.

    At the end of 2017, we were feeling lost but didnt want to give up. We got a geneticist named Dr. Barbouth in Miami, Florida through the Miller school of medicine, we even drove 3.5 hours to see her…she listened to my concerns and suggested the #Undiagnosed Diseases Network. She said it wouldn’t be easy and there was no guarantee she would even be approved but I had to try, it was our last hope.

    April of 2018, we got word she was Approved for the study at Duke thru the Undiagnosed Diseases Network, I cried. I felt like we had our hope back! Our trip was scheduled at the end of July and we stayed there a week. She had WES (whole exome sequencing and still waiting on results.

    It has been a roller coaster ride and it still is, still waiting on an official diagnosis and not having families to relate to, sometimes feeling alone in this, wanting a name for this thing that has been causing my precious little girls struggles but we keep fighting. I am her advocate, her voice. The UDN was and is our last hope.

    This smile, her laugh, her being carefree and spunky lights up our world . She is our JordynAnn. Whatever is thrown at her, she shows us to never give up and how to be a fighter.

    If you are also struggling with a search for a diagnosis for yourself or your child, never give up, keep fighting! You are either your own advocate or the advocate for your own child.

    Community Voices

    The Next Step in Our Journey: A Path to Finding other

    Jordyn-Ann Was born in October of 2014, she struggled from day 1. It was once thought she had #AngelmanSyndrome, #RettSyndrome, or Pitt Hopkins syndrome. She had severe reflux, apnea, jaundice, she even had to be hospitalized at a week old in the PICU. She struggled with regulating her own body temperature, especially during illnesses which would cause her fever to spike to 105. Her mysterious and odd limb movements started at 6-7 months old.

    She has seizures, global developmental delays, absent speech, balance and coordination issues as well as other issues.

    I got a call recently from Duke University at the #Undiagnosed Diseases Network that said my daughter has 2 ultra rare De novo gene changes that has not been previously recorded or found in another human, both combined could explain all my daughter’s symptoms.

    CHD5 has a significant impact on brain development and function, they tested this on mouse models. It would explain all of her neurological deficits and severe Autism.

    DOCK10 which helps with immune system function. It could explain her high fevers, allergies, and immune system issues.

    We want to find other families that have either or both gene changes. We also want more research on these ultra rare gene findings.

    I will never give up and I will keep fighting from my little Warrior princess.

    It means the world to me that she is no longer undiagnosed but ultra-rare instead. We went from searching for a diagnosis to now searching for other families with these ultra-rare Gene changes.

    Now our real mission begins.

    Community Voices

    It's hard as a mother with boys that have a rare disorder that the doctors dont know much about!
    #RettSyndrome

    1 person is talking about this

    Mom Asks Twitter to Change Reporting After Daughter's Image Shared

    Article updated March 6, 2020. Two years after disability advocate and mom Natalie Weaver advocated for Twitter to update its reporting policies, the social media platform has finally formalized new rules against hateful conduct toward people with disabilities and other health conditions. In 2018, Weaver was sent a tweet that used her daughter’s image to promote abortion. Her late daughter Sophia, who died May 24, 2019, at the age of 10, had Rett syndrome and facial differences. When Weaver saw the photo, her heart dropped, she told The Mighty. Though she blocked the account using Sophia’s photo, it was brought to her attention that the photo was still being circulated and was the pinned tweet on the account’s profile. “I decided enough was enough,” Weaver told The Mighty. “He is not using my daughter’s image in that hateful way.” So Weaver and others began reporting the tweet to Twitter. Three days later, Twitter responded, saying that the tweet did not violate its rules and regulations. Then, after reviewing the tweet again, Twitter suspended the person who posted the photo and apologized for its error. Thank you @TwitterSupport & @jack for listening! The account that was using my daughter’s image has been suspended! Thank you to the thousands of people who reported this & supported us! Thank you for taking a stand against hate! pic.twitter.com/77jPFljYPs— Natalie Weaver (@Nataliew1020) January 22, 2018 Weaver’s fight wasn’t over. Julie Ross, a fellow disability advocate, tweeted at Weaver that Twitter does not include hate against people with disabilities in the form users fill out when reporting a tweet. While hateful content that targets people with disabilities was not included in Twitter’s reporting form, it is included in the social media platform’s hate conduct policy. Both Weaver and The Mighty reached out to Twitter about the discrepancy between its policy and how offensive content is reported but did not hear back at the time. In April 2018, Twitter announced it had reconciled the discrepancy and added a disability-specific reporting option to its reporting form. Weaver applauded the social media company’s move. “Many people with medical conditions and/or disabilities receive hate and harassment every day on Twitter and no violations are found,” Weaver told The Mighty. “I am hopeful that this change will create a safer environment for people with medical conditions and disabilities. I hope that Twitter support will be more consistent now in finding violations. I will continue my work to ensure that Twitter support follows through on this.” It's against our rules to directly attack or threaten someone based on their protected category, including disability. You asked us to clarify this in our reporting flow, and we've updated it to be more specific. https://t.co/h7PrSjPkC2 pic.twitter.com/WXDmyGwwiT— Twitter Safety (@TwitterSafety) April 2, 2018 Weaver has long been an outspoken advocate for social media platforms to update their reporting policies to include people with disabilities. In addition to pushing for change with Twitter, Weaver took Instagram to task in April 2019 to include people with disabilities in its reporting form. Other platforms, like TikTok and YouTube, have also come under fire for questionable policies to prevent disability-related hate speech that discriminate against disabled people as opposed to removing bad actors for the platforms. Two years after Weaver’s initial advocacy efforts, Twitter took its commitment to protect people with disabilities on the platform one step further. Now, tweets containing hate speech based on age, disability and other health conditions will be removed from the platform, a strengthening of its former policies. In a March 5, 2020, blog post, Twitter said the change is based on the understanding that what’s said online also has a real-world impact. “Our primary focus is on addressing the risks of offline harm, and research* shows that dehumanizing language increases that risk,” Twitter wrote in the blog post. “Today, we are further expanding this rule to include language that dehumanizes on the basis of age, disability or disease.”

    Kerry Hall

    What I See When I Look at My Daughter With Rett Syndrome

    When I look in to my daughter’s eyes, I see her. I mean, I really see her. Her soul is dancing. She’s leaping around listening to her favourite Vamps song. She spins as she giggles, her long hair swooshing as she turns. Her eyes light up the room as she floats from person to person, getting them to join in with her. She’s cheeky, she tells jokes, she has the most incredible sense of humor. She loves slapstick moments. She’s girly with a boisterous side. She wears nail varnish but climbs trees. She plays with Barbie but loves football. She’s caring, she gives the most, loving cuddles. She plants kisses on sad cheeks and turns them to happy ones. She has an answer for everything but has such a cheeky way of doing it that even the strictest of people snigger. She helps me cook the dinner and make the cakes, licking the bowl with that cheeky face grinning up at me. She runs into our room in the morning and jumps straight on Mummy and Daddy, giggling and so full of life. When I look at my little girl, I hear her. I mean, I really hear her. Her voice is soft and gentle as she says, “Come on, Mummy,” with that gorgeous smile in her face. “Dance with me, Mummy.” We are dancing. We are spinning. We are laughing. We are running into the garden as she leaps on to the trampoline “Look at me, Mummy” She does well at school and tells me all about it. “Look what I did, Mummy, look what I made, Daddy!” We hear you baby, we hear you. This is her. This is Lily. Except her body does not always obey her brain, and one day, her body may fail her. I constantly share, fundraise and ask for help because I have to. She’s my little girl. I think everyone I know would do the same if they had been told a cure was their only hope. I constantly pray for her to hang on in there and stay strong. We need her. She’s a part of us. We want to hear your story. Become a Mighty contributor here. Thinkstock photo by RonTech2000

    Sameer Ather

    Why the President Should Consider the Needs of Those With Rare Disease

    Dear President-elect Trump, I know you will soon be busy thinking about the economy, world conflicts, and trying to deal with all challenges your future position will ensue. But, if you could take a moment to focus on something else for a second, I would like you to make an effort to listen to those who are part of the rare disease community. According to statistics, there are 25 to 30 million people affected by a rare disease in the United States. This means an average of eight to 10 percent of the entire population. They need your attention, as life hasn’t been easy for them so far, and it doesn’t look like they will get better any time soon. I want to tell you a story about a little girl called Susan, who is currently diagnosed with Rett syndrome. This condition is so rare that a doctor may have a fulfilling long career without ever meeting a girl suffering from RS. The latest statistics say the syndrome affects approximately one in every 10,000-15,000 live female births (as it is known to affect mostly women) and there are currently around 30,000 RS patients across the U.S. The problems Susan, her family and all other people affected by RS are pretty much the same: it impairs the development of young girls, causing speech problems, cognitive deficiencies, autism-like behavior, motor skills impairments, sleep disorders, seizures, feeding issues, total loss of walking abilities later on, and partial or total incapacity of taking care of her own needs. And, just like it happens with other rare diseases, like the Jervell and Lange Nielsen syndrome, a parent of an RS-affected often child has to prepare themselves to witness their child’s premature death. If you never had to care for a child with a rare developmental disease, it is probably difficult for you to understand how each day can turn into what feels like a battle for survival for families and the affected children. I want you, President-elect Trump, to consider this, as I am sure you can do something to change things for the better. Increase awareness Parents with RS-affected children often have to become spokespeople and educate teachers, other parents and other kids regarding their child’s health issues when she attends school. This became very difficult for Susan’s mother, who was already pushed to her max, as having a rare disease in the family often means caregivers and patients experience increased exhaustion, depression, and depletion of the family budget.The responsibility of educating teachers and professionals in the field shouldn’t fall solely on the parents. National awareness programs that address doctors, nurses, teachers, parents and children regarding RS patients should play a bigger role. Judgment, prejudice, labeling, stereotypes, discrimination and refusal to offer proper care are not new things in our society, unfortunately. Susan was often called a “monster” and refused proper attention when integrated into a regular school environment. Susan’s mom had to write an individual letter to all other parents and explain her daughter’s condition, her needs and beg for her daughter to be accepted by her peers and their parents. This is why awareness programs that advocate for families with medically complex children should be readily available for those who need them. Healthcare This has been a sensitive issue in the past years. Now, imagine how hard it is for parents to provide their children with adequate care when they face the disturbing truth: for some, it is hard, if not impossible, to receive proper coverage. Some may obtain it, but it partially covers the broad spectrum of needs. Some parents lose the coverage when they change jobs, and others had their policies dropped when the insurance company deemed the disease as “pre-existing.” Susan’s health needs are not fully covered, which means an additional struggle for the family, along with balancing the daily care for a medically complex child and mind-grinding jobs to pay the bills. Day habilitation programs In theory, it sounds simple: Susan’s mom just needed to pay a visit to the state’s Developmental Disabilities Agency and find a day habilitation program in her area. Unfortunately, the closest one required commuting. In this case, Susan’s parents were recommended to start their own local program and get other families involved while trying to access local funding. Needless to say, such endeavor proved impossible for Susan’s parents and given how things are. It is certainly just as difficult for other parents as well. Bureaucracy Even if Susan is only 9 years old, her parents started planning for the future. They are not getting any younger, and their daughter has some chances of reaching adulthood. This is why they need to think about guardianship, establishing a “special needs trust,” paying for a lawyer to deal with the legal work, application for Supplemental Security Income as she turns 18, etc. The problem is that even if they receive the SSI benefits, the payments will still be backdated, as it takes around six months (if not more) to get the paperwork approved. The biggest problem is that those six months can end up with the parent burying and mourning their child before it’s resolved. It is a harsh truth, but all such families live with the mind-numbing idea that their child may die before reaching adulthood. Funding for research To date, there is no cure available for RS children. Doctors usually prescribe medicine for some of the symptoms. I know that as president, you cannot personally get involved and finance further research on comprehensive Rett syndrome cures, but you could at least encourage such further findings and results. Looking at the current data, there is some promise of partial reversal of RS-like symptoms in mice, but science could only go so far. Statistics show that we don’t have any information on adult RS women past the age of 40 and we can’t make reliable predictions regarding these patients’ life expectancy. It is easy to ignore Rett syndrome children and adults, as they are not many. But it is my strong belief something can be done for them. Some of these children aren’t able to personally address you, and many of their parents are too exhausted to even consider the possibility. Therefore, I consider it to be my duty to advocate for those who don’t have a voice. They struggle, but they never lose hope, cherishing every single day of their life. Maybe it’s time to give those hopes a solid, unified foundation. We want to hear your story. Become a Mighty contributor here .

    Melissa DeMoux

    How to Build Trust With a Nonverbal Child

    I have a back yard pool. I also have a niece with Rett Syndrome, who is nonverbal, non-ambulatory and really loves the water. Last summer we invited her and her siblings over several times to splash around and enjoy a swim. On one occasion, my niece was tired when she arrived, so we let her sleep. When she woke up, I went in to see if she wanted to get in the pool. Because she can’t vocalize, my niece uses eye gaze (in addition to an augmentative communication device) to communicate and this time she communicated a pretty intense “no!” She almost screamed it at me with her eyes. Wait, “No?” I was surprised. She normally adores the water. And because I was surprised, I made a ridiculously naive choice. I didn’t trust the communication that had taken place between us. No, I didn’t shove her into her suit and dunk her in the water anyway, but I did call in my teenage daughter (who spends a lot of time with her cousin and is great at understanding her messages) and asked her to verify that I had understood the message correctly. I had. My niece said “no” and she meant it! But that one foolish action undermined every ounce of my communication with my niece that day. In fact, she wouldn’t really interact with me for the rest of the afternoon And can you blame her? Imagine if someone called in an outsider to verify the clear message you had given them. Would you be anxious to talk to that person again? When a person communicates in a way that is less familiar, it is easy to doubt and question and wonder if we received the right message. And to be honest, that’s fair. As we are learning to engage with someone who communicates differently, it is fair that we recognize there is a learning curve. It is fair for us to take time to learn the nuances of language unique to that person. It is fair for us to ask further questions, to clarify meaning, or say, “I think you said ‘no,’ is that right?” But one thing we cannot do is break the trust of that communication bond. Two people engaging in conversation, whatever the circumstance, are creating a contract with one another. It’s an invisible handshake of sorts signifying that you matter to me, what you think matters to me and I care about what you have to say. However, all of that can vanish like smoke if the bond of trust — that responsibility between people to share and be vulnerable so that together they can build something, support one another and grow — isn’t deeply valued and nurtured by those involved. This is true in any communication. But it may be especially true when communication itself takes steady, focused effort. When it takes extra time and energy to compose your thoughts, it becomes vital that those who hear them don’t overlook them. We discredit the message as well as the person sharing it when we ignore or disregard what is said. True communication requires trust. The mode of communication, verbal speech, eye gaze, sign language, augmentative and alternative communication (AAC), matters much less than the message that is expressed. And that message only really matters if there is trust on both ends of the words. A version of this post originally appeared here at My Cough Drop. The Mighty is asking its readers the following: Describe the moment someone changed the way you think about disability, disease or mental illness. Check out our Submit a Story page for more about our submission guidelines.

    Paula Vigil

    Rett Syndrome: How I Get Through Difficult Moments With My Child's Rare Disease

    My daughter Ashley is 23 years old. Back when she was young, Rett syndrome was virtually unheard of. Add to that we live in a small town in a rural area. Ashley had so many misdiagnoses that to be completely honest, we went from one to the next from about 18 months old until she was about 3. I have to say, there were so many hospital stays that they all ran together for me and I don’t remember which one was the one where they finally nailed it. I do know I was young, single and alone, and during this time a woman sat down next to me in Primary Children’s Hospital and asked why I was crying. I replied, “My daughter is going to lose her ability to stand, feed herself, and lose the ability to say the few words she does know.” That woman, who I believe was an angel, took my hands and said, “My husband and I saved for 12 years to take our son to England to meet my parents for the very first time. While there, he contracted some kind of illness. We are about to let him go. He is dying right here in front of us.” I knew then and there that things could be worse. That single moment has always gotten me through every new development, no matter how frightening. During one of her many stays in Primary Children’s, during one of her numerous tests, I had enough. I could no longer watch the blood draws for what seemed the 50th time that day, and I stepped outside the room while my daughter yelled “Mama.” Paula and her daughter Ashley. If I could go back to any moment in all of history, I would go back to that moment and tell myself, Don’t for any reason at all leave that baby alone. She is going to yell for her mama, and it will be the very last time you will ever hear her speak. If I could go back to that moment, I would hold her hand, look in her eyes while she said Mama, and I would promise her I would never ever let her go again. I would be staring into her beautiful brown eyes while she spoke her very last words. I would tell her, years down the road, little girls with a new diagnosis will have technology to help them speak and keep their abilities as long as possible. They will not have to suffer from numerous tests, because Rett will be much more recognized. You will have paved a very rough road to make it easier to navigate for those behind you. You will always be my hero. I will always admire your fight, your will and your smile. And I hope someday, older girls in rural areas will get access to Tobii Dynavox eye gaze technology, or anything that will make life even the tiniest bit easier. I love you Ashley, with all my heart. Ashley is 23 years old. She has struggled so much, but she has never ever lost her smile. The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.