Pitt-Hopkins Syndrome

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Pitt-Hopkins Syndrome
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    Community Voices

    Good Grief

    I’m sorry that I grieve for you while you sit in front of me
    I’m sorry there’s another you, that only I can see
    She runs and plays and talks for days
    She drives her sister crazy
    She hates goodbyes and screams and cries
    when sister calls her lazy

    I’m sorry that I mourn for you when I put you to bed at night
    I’m sorry there’s another you, who I watch sleep in evening’s light
    She sweetly dreams of trees and streams
    she’ll run through when she wakes
    She soaks up the day with the games she will play
    And every grand risk she takes

    I’m sorry that I weep for you while I hold you against my chest
    I’m sorry there’s another you, who would probably protest
    She is getting too large to want mommy in charge
    She insists on making her own choices
    She always complains when mama takes the reins
    with her loudest oh loudest of voices

    I’m sorry my heart breaks for you, oh my sweetest girl, I know.
    I know you are my only you, I’ve watched you learn and grow
    You play best you can, and talk with your hands,
    You bring your sister annoyance and joy.
    You soak up the day in your very own way
    You smile at every cute boy.
    Your list of “can’ts” could fill all of France
    Your “won’ts” may be even longer
    Yet each day you fight with all of your might
    You make all who love you feel stronger

    And so maybe my grief is a strange kind of relief
    A chance to glimpse the girl who might have been you
    When daydreams fade I feel, I can see you for real
    Not an illusion but my daughter, imperfect and true.

    2 people are talking about this
    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.

    Kimberly Sandiford

    5 Things I Wish I Had Known After My Child's Diagnosis

    Getting a life-altering diagnosis for you child is one of the most heart-wrenching experiences a parent can endure. Our family was lucky in some ways for receiving our diagnosis when Finley was still a baby. We didn’t have to spend years searching for answers, doing test after test and appointment after appointment, wondering what the future would like, or if she would have a future at all. In other ways we weren’t so lucky. We were deprived some of that ignorant bliss, the time when we believed she would catch up with her peers and we could just enjoy her. We were in a fog of grief, denial, and heartache for a very long time and we did not appreciate the time in her life that could have been the best for us. I will never claim to be the most graceful at parenting a child with a disability, but here are a few lessons I wish I would have known when we received her diagnosis years ago. 1. Do not immerse yourself in your child’s diagnosis. For the first year or so after Finley was diagnosed, our entire life became about her syndrome. We read about it, studied it, talked about it, joined every support group, read every single post and watched every video of every kid we could get our hands on. Our entire lives became about this disease. Don’t get me wrong, some families thrive and live happier lives when they make their child’s diagnosis their cause and mission. I envy those families for their bravery and strength and fight. But, it isn’t wrong to not be that family. It isn’t wrong to just live your life, to just keep going and adjusting and loving your kid. You aren’t any less if “just surviving” is all you have in you. 2. Do not overload your schedule in the beginning. Unless your child received a diagnosis that requires immediate medical attention, you do not need to make every suggested appointment right away. Give yourself some time to breathe. Try not to add the burden and the stress of medical appointments off the bat unless they are necessary for your child’s well-being today. In my experience, it’s best to give yourself some time to learn to cope with your new reality before putting those coping skills to the test. 3. Do not compare your child. I am still learning this one. This is hard for parents of typical children to not do, let alone those of us with children who have disabilities. It is pretty common in communities that share a diagnosis for the parents to give advice, compare notes and ask about other’s children. It is very helpful to have this kind of support, but it also becomes easy to start stacking our kids against each other. The lines get blurred and we often forget that even though our children share the same syndrome, they are totally different. 4. Do not dwell on the future. I think for most families, thinking about their child’s and family’s future after a devastating diagnosis offers the hardest blow. The future you imagined for your family has been decimated. In the beginning, and many days throughout your journey, you will grieve the life your family has lost. You will often be scared about what is to come and worry about how you will care for your child as they grow. It can become so heavy and daunting that it is important not to dwell in that worry. Survival is about living one day at a time. One of my favorite verses is “Therefore, do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own.” 5. Do not have any expectations. This is the thing I wish I would have known the most. Do not have expectations, not of anyone. Some of life’s greatest disappointments are from expectations not met, and greatest joys, from the unexpected. Do not set expectations for your child, good or bad. Don’t expect your child to have every ailment associated with their diagnosis, or behavioral problem, or delay. Don’t expect them to hit certain milestones on your timeline or gain skills quickly or seamlessly. These things are not guaranteed for any child. When you are expecting your child to be one way or another, you are likely to either be disappointed in the future, or heartbroken in the present. Be proud of the strength they possess for the fight they endure daily. Do not have expectations of your family and friends. There will be those who will let you down, and those who pleasantly surprise you. There will be some who are there for you 100%, and those who run because your situation does not give them the good “feels.” Protect your heart, but do not let it harden when someone does not give you what you envisioned. Don’t expect anyone to know what to say or do, just appreciate the ones who care enough to try. Whether you are just getting on or have been riding the roller coaster for some time, try to enjoy the ride.

    I’m Upset How ‘The X-Files’ Depicted Pitt-Hopkins Syndrome

    On the left is a recent photo of my daughter who has Pitt-Hopkins syndrome. On the right is an image that was shown during the second episode of the currently airing “X-Files” reboot season called “Founder’s Mutation.” It supposedly represents a child with Pitt-Hopkins syndrome. In this scene, a doctor identifies children in his care with various rare (but real) diseases while Scully and Mulder look upon the “unfortunate patients,” as they are called. I didn’t watch the full episode, but I can say that this clip really rubbed me the wrong way. At first, I slightly appreciated the recognition of Pitt-Hopkins (any publicity is good publicity, right?) — but I really have to say that this left me with a sick feeling in my stomach. My daughter is not someone to be gawked at. She is not “unfortunate.” She is an almost 3-year-old little girl. She is a sister, a playmate, a beloved granddaughter. She is the hardest working person I’ve ever known. To me, she is joy and absolute, unyielding love. Though I wish I could accept this as a moment of awareness, I just can’t. I wish I could take it more lightly, but I can’t. Because it matters. It matters to me that if even one person today learns about Pitt-Hopkins syndrome, that they imagine my sweet girl and her Pitt brothers and sisters around the world in all their beauty and not as “unfortunate patients” conjured up by TV writers for dramatic effect. Pitt-Hopkins syndrome is a rare genetic disorder caused by the deletion or mutation of the TCF4 gene on the 18th chromosome. Children with Pitt-Hopkins can deal with many challenges such as seizures, hyperventilation and apnea, severe gastrointestinal issues, cognitive impairment, physical delays and often a lack of speech. My daughter has most of these typical features of Pitt-Hopkins, and because she is missing additional genes, she also has vision impairment, low muscle tone, feeding challenges and frequent respiratory illness. I can only speak from my perspective as a parent of a child with Pitt-Hopkins, but I imagine any parent whose child has one of the multiple conditions that were represented in this scene might be equally offended. Our kids are at risk of marginalization on a regular basis. We don’t need this reality perpetuated through fictional images of our kids on display, inspiring pity or even disgust. My daughter may not have a facial deformity like the child with “Pitt-Hopkins” shown in this episode, but she is subject to stares, second glances and unwarranted comments nonetheless. Due to her chromosomal abnormality, she has microcephaly (small head circumference), and she is notably tiny for her age. She wears glasses to correct her vision issues, and she used to wear an eye patch daily. At almost 3 years old, she is still unable to sit, stand, walk or speak. These physical limitations do not define her. Yes, they are puzzle pieces that can be mysterious and challenging. But by no means do they eliminate her ability to bring love and laughter to those who know her. We’ve had to learn through the experience of raising her that the world we live in does not often reflect this belief. Occasionally, a moment comes along such as this when we can’t just suck it up and keep moving forward. We are forced to pause and attempt to convey what we know by heart: Casting judgment and fear on children (or anyone else) with disabilities simply keeps others from knowing their value. I’m deeply disappointed in the creators of “The X-Files” for allowing this episode to include such a negative portrayal of these kids, and I urge them to consider an apology to the families living with these rare conditions. February 29, 2016 is Rare Disease Day, and I hope the show could use the opportunity to shine some positive attention on our children. The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability, disease or mental illness. 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.

    Special Needs Mom Shares Touching Story of Hairdresser's Simple Gesture

    In a Facebook post shared with The Mighty, Laura Connerton expressed her gratitude towards Supercuts hairstylist Julia Werder, who’s been working with Connerton’s children for the past six months in Philadelphia. Connerton’s 11-year-old twins Liam and Mady LeNoir have a rare genetic disorder called Pitt Hopkins syndrome (PTHS), as well as autism, and haircuts have been especially challenging for them. That is, until Werder came along. Connerton shared a photo of Werder sitting on the floor while cutting Mady’s hair and explained that Werder’s patience and understanding has “made a world of difference” for the family. Connerton said Werder has cut Liam’s hair while standing by the front windows of the salon so he can see the cars outside, something that brings him comfort. Image courtesy of Laura Connerton “It may not seem like a grand gesture to others, but it’s a huge moment for families of children with disabilities or different abilities,” Connerton said. “It’s the little things in life that make all the difference to our special needs loved ones.” Werder says the accommodations are a no brainer. “At my salon we try to accommodate all of our guests, so there’s no difference in doing something for someone who has a disability,” she told The Mighty. “I also saw how much anxiety Laura had when she brought her kids in, so we wanted to help make things better for her too. If there’s a way I can make things more comfortable for everyone, I’m more than willing to do it.” Image courtesy of Trish Ems “I just want people to realize that others in this world do see the bigger picture that all are equal,” Connerton added. She hopes sharing this story will inspire changes in the haircutting industry. Image courtesy of Trish Ems Read Connerton’s Facebook post in its entirety: This is Julia “Jules” Werder, a stylist at a local Super Cuts in Philadelphia, Pa. She is an exceptional human being. She needs the world to know she is a beautiful soul inside and out for what she has done for my family. A simple gesture of a welcoming attitude of acceptance, where others often can not understand. She simply came into their world. It may not seem like a grand gesture to others, but, it’s a huge moment for families of children with disabilities or different abilities. When stressers of every day “typical” life’s routine are changed. Something as simple a cutting my daughter’s hair on the salon floor, may seem insignificant to many, but made a world of difference to us. She even cut my son’s hair standing by the front windows of the salon, because he loves cars so much. It’s the little things in life that make all the difference to our special needs loved ones. Thank you Jules for recognizing that difference.