Phelan-McDermid Syndrome

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Phelan-McDermid Syndrome
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    Becoming a Therapist as a Sibling of a Child With Disabilities

    My younger brother, Mickey, has severe physical and intellectual disabilities, including cerebral palsy, a rare genetic disorder that is closest to Phelan-McDermid syndrome, multiple other genetic mutations, being on the autism spectrum, having severe sensory issues, a GI tube in his stomach because he aspirates, and more. From the minute he was born, I was so excited, yet terrified. I had no idea all of the special things his chromosomes decided to do, so I decided I would go to every therapy and doctor’s appointment I could. I wanted to help in any way I could, and this was the only way I knew how. My stepmom and dad were so patient with trying to teach me everything they could and make it understandable to me, since I was only 12 at the time. Anytime I could, I was trying to watch and observe, take mental notes on what I could do if they needed help or wanted to just nap for an hour. More than anything, I was so overwhelmed by the love I felt for this little boy. There are few words to describe it, but he turned into my everything and I would do just about anything to make sure he was safe and happy. When Mickey was about 1 or 2 years old, there was a program called First Steps in the Kansas City area that would offer therapy for children 3 and under, and they even went so far as to travel to your home in order for the children to be comfortable in their own environment. For Mickey and his anxiety and sensory issues, this was heaven-sent. I remember first meeting his physical therapist who came to our house and she was simply amazing. She was giddy, kind, smiley, and just seemed so happy to be there and help our family. We constantly had to explain Mickey’s diagnoses to so many people during countless late-night ER visits, hospital stays, appointments with specialists, so we had become used to people kindly nodding and going from there. However, this therapist was so intent on understanding everything about Mickey to give him the best treatment. She worked so well with him, it was clear that this was her calling and her joy in life. She didn’t have to say it, you could just tell by the gentle and kind energy she radiated when she was in the room. From then on, I knew that is what I want to do for my career. I wanted to feel that kind of joy and I knew I could get that from working with kids like my little brother! Ten years later, I got my acceptance letter into the Physical Therapy program at Rockhurst University in Kansas City, Missouri. During my practicum for my Exercise Science degree, which I am currently finishing as I write this, I have been lucky enough to be placed at Ability KC in Kansas City. Ability KC works with a multitude of children and adults with disabilities, offering full-day and partial-day programs. I currently intern on the pediatric level, which offers physical therapy, occupational therapy, speech therapy, and even has a classroom to aid children in their school work so they do not fall behind while being a part of the full-day program. The staff I have met here continuously make me so proud of the field I am in and bring me back to when I was younger and hoped that everyone who came in contact with my brother would see past their assumptions about his disabilities. I still do hope for that, and it is hard to explain the anxiety of it. You know your sibling, your children, your family member, and you know how the world often sees them, regardless of all the beautiful things about them. However, there are beautiful people who have taken on this career of working with these children and are dedicated to understanding the things that make each child unique. Let me tell you, it has almost brought me to tears numerous times. I have watched these therapists and rehab techs bring children out of depression. I have seen a few patients who came in very quiet and depressed completely blossom into a new person. I have seen them interact with each parent and take on countless questions because they understand the anxiety of having to leave their children alone with new people. From personal experience, I know it is hard to gain complete trust from parents because it’s how my family was. Mickey has significant and complex support needs, so it is terrifying to leave him in the care of someone new. Yet these therapists happily spend the time and energy going over every meticulous detail with the parents in order to make them feel as comfortable as possible. I see the constant running around and conversations between each type of therapist to make sure each child improves. I watch the therapists sit and talk with each child in order to get to know them and gain their trust as well. I have fallen in love with this facility and each person who works so hard to make sure each child knows they are more than their disability. My little brother is my whole world, and I know each family member who brings their child to this facility feels the same way. The weight it takes off your shoulders knowing your sibling/child/family member is safe is unreal. You meet certain people in life that just make you stop in your tracks because you just can’t believe the beauty they bring into the world — that is what I have found here at Ability KC. To every therapist who takes the extra time with a child to make them feel better, who tries to figure out the little things each child likes, who stays late and arrives early to discuss new paths for therapy that may work better, who constantly has a smile on their face even though the job can be physically and emotionally draining, thank you. From the bottom of my heart, thank you. To the therapists here, and to therapists everywhere who work the extra hours and who have made it their goal to help those who can’t help themselves, thank you. This big sister will always be thankful and this future therapist will always look up to you.

    Receiving a Phelan-McDermid Syndrome Diagnosis for Your Child

    Three years ago today the trajectory of our lives changed forever. We had been waiting for weeks to hear back from the genetics team at Children’s Dallas Hospital, so I called them that morning looking for an update. When my phone rang with a return call a few hours later I was not at all prepared. “Our team was just in a meeting going over your results…” I barely comprehended the next things the genetic counselor was saying because her first words told me something was wrong. We had just pulled in the driveway and I frantically stumbled inside searching for pen and paper to write down all these foreign terms…genetic abnormality…unbalanced translocation…Phelan-McDermid syndrome (PMS)…severe intellectual disability. Hands shaking, I scribbled down a list of notes and “nevers,” — things they thought Sloane would “never” do. And then I had to walk out of our room and tell Chris. We were in complete shock, devastated by the level of despair that had been dropped on us. We sobbed and grieved, and in that time we began to have lots of questions. What does this mean? What do our lives look like now? What can kids with PMS do? What can they not do? So three years later, here’s what I wish the Jenn of today could have told me then. I know that this is hard, that you may not have seen this coming, or maybe you did deep down. I know it feels big and scary… like the end of something. And it is. This moment may feel like the worst moment of your life. I wish I could be there to hug you and let you sob onto my shoulder, that I could cry with you. But more than that, I wish that I could tell you that it is going to be OK. Even though it feels like you will never be happy again, there is happiness to come, and more than that, there is hope. I wish I was there to look you in the eyes and tell you that everything the geneticists said about the many things Sloane will never do is complete crap. Shame on them. How dare they put limitations on her. I can tell you that three years later she has made more progress than they would have believed possible in her lifetime. She is resilient. She tries so hard. She is so happy. And she is the same today as she was yesterday. Never let anyone put limitations on her. I wish I could hold your hand and tell you how an amazing new community is waiting to welcome you. They will understand your struggles, celebrate your accomplishments and be a wonderful source of wisdom and comfort. They are the ones who actually know what this diagnosis means. You will find your community, your home with the other PMS families, and we will walk this with you. We will laugh and cry and live this life together, even though we are all apart. I wish I could tell you how your circle will grow to include families from all over the world. Families who will be your dear friends even though you will be separated by thousands of miles. I wish I could tell you today that right now, there are amazing doctors, scientists and researchers working so hard to find treatments for our loved ones. That they are trying every day to help make the lives of people with PMS better. I wish I could tell you all the good ways this will change your life, but right now you won’t want to hear that. Today is hard, and sad. But this you need to hear…even though your life feels over today, nothing has changed for Sloane. Who she is does not depend on a label, Sloane is exactly the same girl today that she was yesterday. More than anything, I want you to take heart, you are not in this alone. Right now it feels like the end of the world, and you don’t have to be OK today. But when you’re ready, your new community is here for you and waiting with open arms. And there is hope and life on the other side of this grief.

    The Emotions of Medically Complex Children

    “Complex” is a word I’m very familiar with when it comes to my daughter. “Complex medical needs” is typically one of the first descriptors when it comes to her condition. Her body, down to her genetic makeup is complex — each organ just a bit different from the “norm,” resulting in issues with her brain, heart, kidneys and bladder. Each illness she tackles is off the beaten path… complex. So complex that I feel that I’ve spent the majority of the last five years of my life explaining her complexity. But one thing that I usually round out my complexity discussion with is, “But E is easy. She keeps it simple: ‘Puffin Rock,’ ‘Daniel Tiger,’ music and food. She is sunshine incarnate.” I can sum E herself up in three sentences. But should I? E has been having more night wakings, but she’s doesn’t cry or scream. She just lays in her bed, shifting around and “talking” to herself (it’s interesting how nonverbal communicators can “talk” so much). We typically check the monitor, laugh a bit, roll our eyes, and try to sleep while she entertains herself, as she usually finds sleep again. But lately, I have been laying awake listening to her, and for the first time in five years I was struck with something: what is going on in her brain? Is she lonely? Did she have a good dream? A bad dream? Is she anxious? Is she thirsty? Is she excited about her day? Is she scared of the dark? For the first time in five years… I allowed E herself to be complex. A medically complex little girl with complex feelings. Do you know how hard that is to face head on as her Mama? To think that her basic expressions of emotions (happy, sad, mad) are not all she feels? To think that she could be lonely, or anxious, or frustrated, or embarrassed, or jealous, or proud, or disgusted, or elated? To acknowledge that her loves of the world may expand past “Daniel Tiger” and food? Reflectively, I can attach different experiences where I feel that she has shown complex emotions. But I cannot stay in that reflection, because I feel I do not know how to accept that she could feel as deeply as I do. I am a deeply emotional person. I am reflective, poignant, and emotionally complex. I go to counseling, I sing songs to work through my trauma, and I talk about my feelings constantly. I write and I process and I speak and I communicate and I think and I do the hard work on myself to help me through all of my very complex human emotions. I have a huge toolbox at my disposal to help me. E does not have much of a toolbox. I do not know how she processes. I do not know how to help her. E’s life renders me helpless more often than not. I’m not sure I can handle another thing that I am helpless to help E. So I lie awake and listen. Sometimes if she doesn’t settle, I will go and lie with her. I rub her back and snuggle her and whisper stories to her. When we are going throughout our day and she becomes quiet and observant. I always make an attempt to reach out to her, a brush of her hair, touch of her cheek, holding her hand. All of this so that if she is melancholy or exhilarated or disappointed or elated, she at least knows she’s not alone as she faces the complexities of herself and the world. I figure, that’s all every single human, with every single one of their complex human emotions needs: to know they’re not alone.

    Fixing a System That Fails to Meet the Needs of Kids With Disabilities

    I waited 27 minutes on a line at the registry of motor vehicle (RMV) Friday morning to be told they could not process our 6-year-old son’s approval for a disability placard without taking a picture of him. The attendant apologized for the miscommunication in the approval paperwork we received from the state. The RMV does not have any weekend hours, so I was told if I came back right after he got home from school he wouldn’t have to wait and they would take us right in and get this approval processed. It wasn’t the desk attendants fault. She was kind. My son and I waited 18 minutes in the express line at the registry of motor vehicle Friday afternoon to be told they could not process our approval in this particular line — and we were kindly directed to a different line behind the counter. It wasn’t the desk attendant’s fault. He was just doing his job. My son and I waited 35 minutes in the line behind the counter at the registry of motor vehicle to have his approval processed for his disability placard. I administered his afternoon medicine while we were waiting. I was feeling lucky I had brought it just in case things took longer than expected. That’s our role as parents of children with disabilities — you always need to be prepared. Unfortunately, not trusting wait times is part of the territory. The attendant was kind. She explained that I would have to now hold my son up to take his picture. “Can he just stay in his chair?” I asked. “No” she replied, “The camera isn’t designed to take pictures of children, only adults in wheelchairs, so it will cut off his head.” I proceeded to take my son out of his chair and try to hold him up appropriately for his photo. This took another 12 minutes or so to get his face in the frame without his hands or my face. He was upset. So was I. It wasn’t the desk attendant’s fault. She was kind and doing her job. What if I couldn’t lift my son for the photo? What if we weren’t able to capture a photo to spec? Would we have been denied a placard? Why must we take the photo live in the first place? Is the medical documentation from his treating physicians not enough evidence that he is indeed deserving of a placard? Are the RMV attendants trained to judge a person’s eligibility? Did they just want to see him come in the building in his chair? Why not make the process less burdensome and more efficient by allowing us to have a passport photo taken and submit that through the RMV for processing? Or at the very least, have the camera capacities available at the RMV be similar to that of other agencies so to ease the burden on our children and their families? This experience was another screaming reminder that this is not the way things should go. The need for this photo is a direct result of him being eligible for a disability placard. Isn’t the most common expectation that he would be in his chair? Let’s rewind to nine weeks ago when our developmental pediatrician strongly recommended that we pursue an application for a disability placard for our son. This was an emotional moment for us. We know he needs one as he requires a chair now for most support. Even though we know this in our heads, we are still coming to terms with our son’s deteriorating muscle tone and motor skills in our hearts. We are still holding on to the hope that this regression will stop, that science will catch-up to his needs, that we’ll get placed in a clinical trial and have all the right therapies in place so that he doesn’t require this level of support for much longer. We went home and looked up the application online. We filled out the paperwork from the registry of motor vehicle. We then took that paperwork back to the hospital for his doctors to sign. We then took that paperwork and sent it in to the state for review. When we received notice in the mail of his approval three weeks later, we were excited — an unheard of quick turnaround compared to other federal paperwork processes we’d experienced to date! And, only one more hurdle! The paperwork outlined we were to go to the RMV to have the approval processed. So that’s what I did on the next available weekday morning. And then, that’s what we did later that same afternoon. I felt frustrated as I circled for parking that afternoon at the registry of motor vehicle with my son. The lot was much fuller now with the after school and end of work day crowd. It seemed rather ironic that he was required to be there in person to process the approval for his disability placard, yet not given the ability to park in their handicap spaces for this visit to the RMV. The attendant told me it would take an unknown amount of time to receive his placard in the mail. “I just don’t know,” she said, “It varies so greatly it wouldn’t be fair for me to guess.” The attendant was kind. It wasn’t her fault. I can’t help but wonder, whose fault is it? The system is undeniably broken — fractured at seemingly every encounter we have with it. And unfortunately, we are not alone in trying to navigate a maze of inefficiencies, barriers, and injustices in pursuit of health and well-being for our son. We are a part of the fastest growing minority group in the world — an estimated 1/4 of the global youth population require special medical and/or education attention. Our collective political history has demonstrated that these broken systems won’t become a problem worth fixing until they inconvenience everyone — or at least enough persons with power and privilege to draw attention to an issue needing to be addressed. Have we not enough evidence already in our past to know that reactionary practice is never best practice in education, in medicine or in policy? So if it’s no one’s fault, then I contend everyone is to blame. The longer we tacitly concede and go through our daily lives working within the broken system, the longer that it will appear to be a system not in need of fixing. And for our family, we are done waiting for someone else to fix it. I share our experiences to raise awareness and advocate for the protection, enactment and preservation of basic rights for all our beautiful children with disabilities and all their beautiful families who are fighting for them. No parent should have to wait out the system at the expense their child.  I refuse to wait out the system any longer at the expense of my son.

    Raising a Child With Phelan-McDermid Syndrome

    “And now, you fight.” These were the first words spoken to us by our son’s diagnosing developmental psychologist when he received a diagnosis of autism in October of 2017. A diagnosis the same developmental clinic had told us he was not a candidate for 18 months earlier. A diagnosis that explained enough for now. A diagnosis that was supposed to open doors for his medical servicing while we continued testing to figure out what was really going on. Why do we tax the parents and families of children with disabilities? Why do we make them fight? Having your child receive a medical diagnosis – any medical diagnosis– is traumatic. And you’ve likely already climbed up an uphill battle to get there. It’s emotionally draining. It can be exhausting, having to explain and then answer questions that you as the parent don’t necessarily have the answer to. Answers you don’t want to know. Don’t want to remember, or will never know. It’s time to hurry up and wait. Waitlists. Forms. Packets of information. The same questions asked over and over again with ever so slightly different language. All for the same end goal, but there is seemingly no coordination between them. Everyone in education and medicine is overworked. No one has enough time. Every child needs better coverage, more comprehensive treatment, more coordinate care. And there’s the unspoken cost of a diagnosis. The time invested in caring for your child. The time at doctor’s appointments. The time it takes to schedule those appointments, the time spent in waiting rooms. The time filling out forms. The co-pays, the deductibles, and the sleepless nights. It took our family six years and three months to receive a diagnosis. Our narrative is not novel. Why is every step a fight? Why does society put so much strain on us? Every time we have to fill out a form and tell a new provider/system/agency how much our child doesn’t know. Can’t do. Can’t demonstrate. Pay for a test he can’t score on – one medical professionals can’t even interpret themselves. How many times do we have to be asked to reiterate his deficits? How is this helpful? Why not assess what he can do? For me, I feel traumatized all over again each time we need to fill these forms out. And as he gets older, the questions grow in complexity while they become less relevant to our son. The constant evolving reminders of what he can’t or might never do is not helpful to him, his providers, nor our family. It’s a time suck. And it hurts. We need to stop focusing on the “can’ts.” If you need support, join our #checkinwithme community: The assumption that children with disabilities have a built-in special network of supports is a grossly mistaken narrative. There is no fantasy land of providers reaching out their hands and their hearts to service your child. Indeed, we have met some of the best in the country along our journey. We’ve had doctors call us from their personal cell phones on a weekend, during the evening, with test results, updates or just to check in. We’ve met doctors who gave us their time, their attention, and their hearts. At the same time, we’ve also met doctors who have left us to feel hopeless, disenfranchised and alone. We have had doctors tell us to “control our child” so they can run tests. Tests he won’t score on anyway. We’ve had doctors tell us to seek a second opinion if we don’t like theirs. We’re glad we did. Our son has Phelan-McDermid syndrome. His 22q13 genetic mutation underscores his inability to develop and thrive typically. He is one of an estimated 1,950 people in the world with this diagnosis. Among the science that is known, the prognosis given indicates he will experience significant and chronic regression in skills – a rate that will accelerate between the ages of 4 and 6. He received his diagnosis when he was 6 years and 3 months old. We have been on waitlists for in- home ABA services for 13 months. We had been waiting for the Department of Disability Services (DDS) to confirm his eligibility for services for 12 months. We were referred to the augmented communication systems department to give us clinical assessment of his needs and guidance for his school services and at home provisions to enable our son to communicate his needs– to be fitted with a voice. Two weeks after being referred we received the phone call in October of last year. They explained the process. They would be sending us a packet to fill out about our son and then upon receipt of it they would call us back and schedule his appt. They are currently booking out into May of this year. Why does our son have to wait the entire year of kindergarten to get guidance on what voice would work best for his needs? When we get this information it won’t just happen overnight either. He won’t be presented with a magical voice box and we’ll be on our way. We’ll have to agree upon a pathway with the clinician. We’ll have to get insurance and DDS approvals. We’ll have to wait for the technology to be manufactured for him. Maybe by first grade our son will have a voice. At what point do all the parents who are struggling with managing the demands say, “Enough is enough. We won’t wait anymore! We won’t accept these timelines!” When will society fund more doctors? When will changes in our education system channel more human service professionals to meet the growing demands of children and their families? When we will stop telling families to wait? When will we stop weighing down their hopes, their patience and their pride? It’s an equality issue. And it’s a money issue. No one wants to pay. No one wants to be responsible. The reality is that the costs of children who have disabilities get more expensive over time– hence the argument for intervention early and often. If we invest in children while they are young, it costs society less when they are older. So why are we making children wait for services and intervention during these sensitive periods of development? Why are we forcing families to wait it out and fight their school systems for more help? Why is this the norm we’ve come to expect? I can tell you why the parents of children with disabilities put up with it all. Because they have no time for that fight. After the doctor’s visits, therapies, medication refills, insurance referrals, conversations with providers and navigating the evolving needs of their beautiful child, they might also have to tend to other children who deserve their attention, or spouses and families. They might also have careers with their own set of demands. They have dreams of experiences outside of therapy visits and phone calls to fight for. They have interests in conversations about more than what their child can’t do. They have interests. Period. They have feelings. They have weaknesses. They have unmet needs too. For all the parents, caregivers, families and children in the fight, know you are not alone. And your fight isn’t your own –it’s all of ours and we are in this together. Because our children deserve the world and we won’t stop until we build it for them. And so together, we fight.

    When People Stare at My Child With a Rare Disease

    We passed one of you on the street today. My hunk of a husband was wrestling our black lab, and I was walking with our daughter. Well, I was pulling our daughter “E” who was clumsily following me in her bright green gait trainer. I was hoping you’d smile, or even say hello to our sweet E. However, you stared at her as though she were on display — then avoided eye contact with me and brushed past us. I know you avoided eye contact because I was looking right at you , hoping and waiting for you to interact with us. Then, the four of us were left in your wake — E totally oblivious, hunky husband and dog still wrestling, and me, disappointed. Your avoidance reminded me of another dear stranger when we recently had to tube-feed E in the middle of a Chick-Fil-A. Dublin, the service dog in training, had sprawled out on the floor. One of my best friends was holding a hungry, screaming E, while I hurriedly hooked her up to a syringe for feeding. We were quite a sight to behold, I truly cannot blame you for staring. You were sitting with your children, who were also staring. Your little girl piped up, “Mommy, what are they doing?” and you hurriedly changed the subject to Dublin, the dog who was now determinedly inching away in order to grab a stray fry. Your darling girl persisted, wanting to know what was going on with E and why it was happening and who we were…and you continued to change the subject and ignore her questions. I looked up at you to share a knowing smile, but instead you looked away. And I was so disappointed. Your daughter was not being rude, she was being curious. She wasn’t afraid, she was interested. She wanted to learn and needed you to teach her. And you let the moment slip away, perhaps because you were afraid of being rude. You wouldn’t have been. We would have welcomed it.   You see, something happens from the time we are young to the time we are older, when we go from bright, curious children to adults who avoid and brush past toddlers in gait trainers. Disability becomes frightening, odd and unusual. I am positive you meant no ill will (and if I had to guess perhaps you were trying not to be rude) and I loved that you spoke about Dublin and his purpose. But your decision to not answer your daughter’s questions made my daughter more unapproachable. You could have explained, or even better, sent her over to talk to us. We could have educated her (and you) about what a feeding tube is and why E needs it. We would have explained that E has a rare disease called Phelan-McDermid syndrome that make her life look different. We also would have told you all about how E is mischievous, loves to read and hates spinach. We would have explained that Dublin is still learning, but he will help E in many ways. I would’ve asked about your daughter’s favorite color or favorite foods, and E would have smiled. Together, you and I would have shown our girls that disability isn’t scary, it’s just different. It’s something to be treasured and explored. It’s friendship and acceptance, not pity and avoidance. But we didn’t. We couldn’t. My daughter could have experienced kindness from a peer, yet the smile that was meant for her went towards her dog. So, my two strangers, and all who we may encounter — I know my family of four may be a sight to behold: a wee girl in a bulky contraption, a plain-as-day puppy in a service vest, and two parents who are frazzled, yet friendly. Send us a smile, answer your child’s piping questions. Reach across the invisible divide and make a bridge of understanding. We can see you staring, and we are waiting. I believe you meant no ill will towards us, and I write this to educate, not to judge. Before having E, I would have responded exactly like the mother in Chick-Fil-A. I am casting no stones here, just writing our experiences in the hope of bridging the gap. I also understand s ome people may not want to talk about their differences, and that’s OK! But it never hurts to make eye contact and smile. I do not speak for all, just for me and the little girl in the groovy green groover. We want to hear your story. Become a Mighty contributor here .

    Why I Wore the Same Shirt for 365 Days for My Daughter's Health

    The journey and challenge I started in March 2016 is now complete. I’ve been wearing my “Phelan Lucky” T-shirt for one whole year, to raise awareness of our daughter’s rare genetic condition, Phelan-McDermid syndrome (PMS). I’ve completed 365 days of Phelan Lucky. Emily, our youngest daughter (5), is one of just over 1,500 people diagnosed with this condition worldwide. It’s a condition that leaves her with sever developmental delay, she’s nonverbal, has low muscle tone throughout her body, autistic traits and she is prone to seizures. Other characteristics of Phelan-McDermid syndrome include: sleep problems, heart defects, renal abnormalities, severe reflux and lymphedema, among other things. Phelan-McDermid syndrome, otherwise known as 22q13 deletion syndrome, occurs from a deletion on chromosome 22 to the end of the chromosome, 22q13. I’ve worn this T-shirt everyday without fail. Any formal or informal event that’s taken place over the last 365 days, I’ve had my T-shirt on. I’ve taken a photo and posted on Facebook and Twitter everyday to show people I’m wearing the T-shirt. I also give information about the syndrome in the hope it will help create more awareness. There have been better days than others, some very scary and worrisome with Emily being unwell. But, on a whole, doing this challenge has been amazing and made me more determined to fight this awareness battle even harder. For the first few months it felt like I was in the honeymoon period of the challenge. Then there was a period where I became very overwhelmed and found it hard to see the end with so many days ahead of me. But once I got past the halfway point, the days seem to race by and momentum of the campaign kept increasing. Putting a T-shirt on every day has been the easy part of this challenge. In fact it’s saved me so much time in the morning choosing clothes. The posts and photos, on the other hand, have been the challenging part. I’m not going to lie – posting every single day was sometimes a right pain in the bum, but I only had to look at Emily, see her determination and the joy she has for life, and I was pushed on. Life can be challenging for all our PMS kids, and this challenge has been a drop in the ocean compared to what they go through every day. Emily teaches us so much as parents. Her strength and determination amazes us. We’re so proud of her and everything she achieves. Emily and her big sister Ashley (7) are both little stars. Ashley is an amazing big sister with so much love and patients for Emily. We feel very blessed to have these little treasures in our lives; they complete our little team. My girls are my inspiration for doing this challenge. I felt it was my duty to help share her story and the story of others who have this rare syndrome. And for Ashley, too. She’s got a life time of explaining this syndrome to others. I want people to understand and have compassion for those affected by the syndrome so she has people in her life that understand and accept it too. These girls are my super heroes and I want to create stepping stones for them into an more accepting world. This year I went to weddings, a christening, met a member of parliamentand other councillors, a ball, charity and fundraising events, many family days out, and received a guardian angel award. There were beautiful stories shared by PMS families and daily facts about the syndrome, support from family and friends, Lincoln City Football club, Software Europe and anyone and everyone who has liked and shared posts, lots of cakes, many face painted. It has definitely been epic!!! And the T-shirt itself is still doing ok, it’s stretched, faded and the lettering is cracked, but it doesn’t look too bad considering how much its been worn. I’ve received so much support from people from all over the world. Locally when people have noticed my t-shirt I’ve explained what I’m trying to achieve and explain to them about the syndrome, which has always been met with such enthusiastic support. And the generosity I’ve seen from people donating has been amazing. The sponsorship target I set myself of £2,213 (in relation to where the deletion occurs on the chromosome) has been smashed and the funds raised for PMSF UK (Phelan-McDermid Syndrome Foundation UK) stands at £4,485. PMSF UK provides so much support for families affected by this syndrome and strive to improve their lives. I’d like to say a massive thank you to everyone who has sponsored throughout this challenge, I really appreciate the kind donations people have made, the support people have shown and can’t thank you enough. I’d like to think that by doing this challenge I’ve been able to reach and educate those that didn’t know about the syndrome. This won’t be the end of the awareness raising for me, there’s still lots more to come. So, as I come to then end of my year of Phelan Lucky, I’m now passing the challenge onto the next lot of determined and dedicated parents and carers who are striving to raise awareness of Phelan-McDermid syndrome. PMSF Australia are taking the reins and doing their own year of Phelan Lucky starting on March 17th and I can’t wait to see what they get up to over the year. High fives to you guys and thank you. Well, I’m off to decide what to wear tomorrow. It could take a while. Follow this journey at: We want to hear your story. Become a Mighty contributor here .

    What I'm Thankful For as a Dad to a Son With Phelan-McDermid Syndrome

    I am thankful for many things today. But I’m particularly thankful for every hour of every day I have had the opportunity to spend with Olie. When we became aware of Olie’s condition we did not know what to expect. I did, however, commit to accepting Olie for who he was, to not waste a single day with him, and to cherish every accomplishment he ever made – no matter how small. We heard it all from Olie’s doctors: He won’t live past 2 years old… he will never sit up on his own… his cognitive development will never exceed that of a 1-year-old. Over the years, Olie kept surprising us and kept reminding us that some milestones are more important than others. At less than six months he survived his first surgery – a mandibular distraction to correct a recessed chin. Olie struggled through a very rough 36 hours of recovery and graced us with his beautiful smile for the first time days later. Time after time – surgeries, hospitalizations, and ambulance rides – Olie always bounced back with his same exuberance. I do not have enough resources to give Olie everything he deserves. The world does not have enough resources to give Olie everything he deserves. But somehow, this didn’t mean anything to Olie. He still perks up every time I come home from work. He still shows off his toothy grin every time I pick him up. What I finally came to realize is that Olie made the same commitment to me that I made to him. He has never blamed me for not being able to being able to make his stomach work, or not being able to make him walk, or not being able to give him back that crucial part of his 22nd chromosome that I took for granted for much of my life. After almost every setback Olie bounced back with his same enthusiasm, charm, and love for his family and life. Never holding a grudge against me for not being able to help as much as I wish I could or for even making him go through a procedure that we could only assume he wanted in the first place. I doubt I’ll ever meet a more perfect soul. *** Oliver is 5 years old and lives in Atlanta, Georgia, with his mom, dad and 3-year-old brother Owen. Oliver has Phelan-McDermid syndrome and was recently diagnosed with leukemia. Home on hospice, his family is focusing on his comfort and happiness. We want to hear your story. Become a Mighty contributor here . Thinkstock photo by Halfpoint

    My Daughter With 2 Rare Diagnoses Sat Up on Her Own

    When our daughter, E, was born 10 weeks early in July of 2014, the doctors told us to expect many developmental delays and to simply give her time to reach them. However, after each month passed with no progress, nary a roll or a sit, we knew something was amiss. Then in October 2015, well past her first birthday, we discovered the reason why when we were given two diagnoses: Phelan-McDermid syndrome and a distal 7q duplication. Suddenly, our girl who we thought just needed more time to hit milestones may now never meet them. Both syndromes are rare and the symptoms are extremely varied, which means there is limited knowledge on what to expect for her future. Each supposed certainty of her life has become a question. Her peers began to walk months ago, yet E couldn’t even sit independently, despite multiple therapy sessions a week. But today was different. E pushed herself up to sit — and sat by herself for five seconds. Then she kept doing it. Again. And again. And again. Each time more confident than the last. And streams of my joyous tears continued to flow. I have almost never seen a sight as beautiful as she was today. Strong. Healthy. Happy. Independent. Proud. I cannot begin to explain the amount of work she gone through to learn this skill. Every single day for at least a year. Pushing, prodding, positioning. Teaching E how to do something that should be second nature to her. Training her muscles. Every. Single. Day. Days. Weeks. Months. Discouraging days. Regression. Losing skills we thought she mastered. Watching her try and work so hard. All the while knowing there was an end goal but never knowing if it would actually come. Yet, there she was. Sitting up across the living room, looking for our faces and waiting for our praise. She looked like she had been doing this for ages. She was raking in the reward of all of those difficult days and her hard work. Beaming. Beautiful. These days are the days we cling to. The days when comparison isn’t company, when we reap the reward of diligence, when we cry out in jubilation and she sparkles. B and I do, too, for that matter. Sparkling is contagious. We carry these sparkling days to light the path through our dark valleys. They remind us of the good that comes from determination, and there is even more good awaiting us ahead. Friend, the road we walk may be long and hard, and the steps aren’t always clear. Though your goal may not be in your sights, I must tell you your work and your diligence will not be for nothing. You’re working towards your own radiant, sparkling day. I hope you will soon find that day to cling to and to cast light and hope onto discouraging, difficult times. I believe it would act as a reminder — like a kiss from Jesus — that your path has a purpose and you are meant to shine. Follow this journey on Living a Life of Rarity. Imagine someone Googling how to help you cope with your (or a loved one’s) diagnosis. Write the article you’d want them to find. If you’d like to participate, please check out our Submit a Story page for more about our submission guidelines.

    Wearing a T-Shirt to Raise Awareness of Phelan-McDermid Syndrome

    I have two beautiful daughters, 6-year-old Ashley and 4-year-old Emily. Emily has Phelan-McDermid syndrome, otherwise known as 22q13 deletion syndrome. It occurs from a deletion on chromosome 22q13 to the end of the chromosome. There are more than 1,300 registered cases of Phelan-McDermid syndrome worldwide, so Emily is 1 in 6,080,883. That makes her very special! Victoria with daughters Ashley and Emily. Phelan-McDermid syndrome affects many aspects of Emily’s life. She has low muscle tone, which can make it difficult and very tiring for her to move and walk. She has developmental delay and is functioning at about the age of a newborn to 11-month-old. She has difficulty with both fine and gross motor skills, making attempts to communicate through signing a challenge. She is nonverbal and may never talk. Emily has a lower immune system, and she makes regular trips to the hospital due to seizures. But she is a total joy to be around; she’s taught us so much as parents, she makes us laugh and has so much love to give. She’s a complete sweetheart. Every achievement Emily makes is massive and a wonderful celebration in our house. Instead of hitting milestones, we call them “inch stones,” and when she gets to them, the joy in our house blows the roof off. Not only does this joy explode from us, her proud parents, but also from her very loving older sister, Ashley. Ashley is wonderful with Emily. They interact with each other so beautifully, and it’s lovely to see them playing. When my husband and I were first given Emily’s diagnoses, we felt like it was an advanced science lesson, learning about chromosomes and proteins. So I was completely caught off guard when one morning out of the blue, Ashley asked me why Emily couldn’t talk, why she was still like a baby and why she has to go to the hospital regularly. It was hard enough for us to understand, let alone a then-5-year-old girl. I tried my very best to explain Phelan-McDermid syndrome to Ashley in a language she could understand. I told her that we’re all made up of building blocks, like Lego pieces. These building blocks are inside us, and each color block can make up a different part of our body, like red for eyes, blue for hair, and yellow for heart. Emily is missing a very important part of the building block that helps her talk, move and do certain things. Right away, Ashley wanted to find her sister’s missing building block. “Let’s find her building block then, Mommy. I’ve got a whole box of them in the play room. What color is it?” I really had to try to hold it together after that. It was a beautiful moment of pure sisterly love that was completely devastating at the same time. I want to find her building block, too. I had to stay strong and continue trying to explain that it’s not a block that can be found, and it won’t grow back. Emily was born with it missing, and unfortunately it’s not something that can be added. “Is that why Emily has to go to the hospital sometimes, Mommy, and gets sick a lot? What happens if I lose one of my building blocks?” So many more questions followed, but I took my time with each and kept asking her if she wanted to know more and if she understood. I also wanted her to know that no matter what happens, we love her and Emily both so much, and nothing stops us from being a family and loving each other. After our conversation, I went to the laundry room and bawled my eyes out. It was an overwhelming moment, but Ashley now seems to understand, and she has so much compassion for her sister. It has made me even more keen on raising awareness, so others can understand and have more compassion, too. I feel it’s my mission to tell people about Phelan-McDermid syndrome, for my daughter and others like her. That’s why I started the 365 Days of Phelan Lucky campaign. My challenge is to wear my “Phelan Lucky” T-shirt for one whole year, all day every day, every event, any occasion! I’ve been documenting the campaign with a daily photo and reaching out to the media to raise awareness and funds for PMSF UK, the support group for the syndrome. Together we can raise awareness about Phelan-McDermid syndrome, and help Emily and her PMS brothers and sisters. Support Victoria’s journey at 365 Days of Phelan Lucky. The Mighty is asking the following: How would you describe your disability, disease or mental illness to a child? If you’ve done this before, tell us about that moment and the child’s reaction. If you’d like to participate, please send a blog post to 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.