Because everybody has those days when you need something inspiring, something that gives us hope. Please enjoy stories of love and great achievement. If you would like to submit a story, artwork or anything else for this page, please email us at firstname.lastname@example.org.
What I’ve Learned From 9 Years Parenting a Child With a Rare Disorder
Over the years, I have learned that the 22q11.2 deletion that once defined how I thought of my sweet baby girl, that once took my breath and my dreams away, has faded into simply a word on her chart and a source of hope when I read it in the latest article on stem cell therapy’s incredible promise. I look at my daughter Nadia and I don’t see her deletion, heart repair or missing kidney. I marvel that she has the sweetest and biggest soul I have ever seen in a child. I don’t see her speech delay. I don’t see her low tone or foot braces. They are long gone. She gave up signing at age 4 and never looked back – although she often uses hilarious gestures while she is dancing and singing in the shower. I don’t see her learning difficulties. She just read me an entire chapter book and giggled at the funny parts with such delight that I found myself captivated by a children’s story. About hippos.
I don’t see her doctor visits – 20 in the past three months. When we left her appointment last week, she clutched my hand while skipping and told me that “our date” was her favorite part of the day. I don’t see her fused spine, because she surfs and skis and does cartwheels and she literally bounces with joy. Most days, I don’t even see her immune deficiency. Through magic, impossibly wonderful teachers and friends and loads of prayers, she not only goes to school every day, but loves school every day. I think our luck is quite simply otherworldly. Honestly, I think her love and fairy dust have healed all of us and blown into every little corner of our world.
In utero and at two months, we were terrified about what would happen if we lost our baby, our precious baby. We were told that things might work out, but she was little. But her labs were off. But her numbers were low. But they didn’t know. But she had this deletion. We prepared for a long heart surgery that would bring a grown man to his knees. That did bring my doctor husband, the one who never worried or cried, who tended to gunshot wounds in trauma centers, to his knees.
We shut off the radio. We went to bed at 8. We slept fitfully, in between her feedings, and laid solemnly in bed until we had to get up and face the day. We stopped talking to friends with healthy kids because it was impossible to relate to teething and solid food debates when we were researching Duke doctors to do thymic transplants, or finding specialists to help with surgeries. We curled up and rocked our baby, more for us than for her, and needed our own moms and dads more than we had since we were children. I wondered if I had taken more prenatal vitamins, eaten more wheatgrass, more green smoothies, avoided whitening toothpaste, gotten more sleep in pregnancy, if I could have made a difference – spared my baby girl the list of anomalies that stared at me from the hospital’s brochures that accompanied each visit to a different specialist.
And then, the sun came out. It was brighter than anything you have ever seen. Nadia, even as an infant, had a smile so sparkling and brilliant, that it made her eyes scrunch shut. Apparently, the well that sorrow carved was indeed deep enough to hold a lifetime of joy in the smallest imaginable package – 20 pounds at 2 years, 30 pounds at age 6, 40 pounds at age 9. Despite her size, she packs a serious punch. She takes everything in stride and has such a big personality that sometimes I am surprised when I see the scale.
I think we often want our kids to be like us, to meet our standards, to make us proud with their achievements and mimic us so we can relate. We want to show the world how successful and bright our children are – an extension of us. In this case, I think the opposite is true. I think we more often strive to be like her, to accept her for precisely who she is and for what her best is rather than “the best.” She loves so deeply, enjoys so richly and feels joy so intensely that it is like watching a beautiful sunrise and feeling the heat of the best summer day, all at once. She isn’t reserved or self-conscious, like me, and our journey has let me see the best and most beautiful parts of everyone. So, on her birthday, I felt compelled, contrary to my nature but so fitting with Nadia’s, to share something personal with the world, without worrying what others will think.
Since that cold and overcast day nine years ago, we have witnessed countless quiet, unspeakably beautiful acts of kindness towards Nadia and towards us. She has turned our world, our friends, our coaches, our teachers, our neighbors, into family. From the friend who brought me her pillow when I first checked into the Children’s Hospital with Nadia because she was a nurse and knew that her pillow would be softer, more comfortable, to the stoic neighbor who brought soup and dropped it on our doorstep, along with a tiny note and an angel pin that remains affixed to the shade of her infant car seat that I just can’t part with, I am left in awe. From my sister and family who have listened to every high and low and sifted it out for me with such grace that I swear they walk on water, to the friends who gave us a little jar of glitter fairy dust that still sits on Nadia’s dresser and will surely be sprinkled somewhere on her wedding day, the world has rallied around us and held us together.
Nadia recently made rainbow loom bracelets for practically the entire team and stands at my son’s basketball tournament. She took such delight in each gift, in sneaking up and delivering them, in selecting just the right colors and in seeing the look on their faces when she gave them her gift. I was touched, but honestly more grateful for the brilliant guy who marketed rubber band bracelets and kept her occupied for a day in a gym. However, the next weekend, when I saw, not one, not two, but practically a dozen people—coaches, grandparents, teammates, roll up their sleeves, just a bit, or sneak a little wink, to show her that they had worn it for good luck, I saw her light up and stand taller. And I knew. Right then.
This is the story of Nadia. She hugs bigger. She burns brighter. She loves deeper. And she seems to be the happiest little girl, despite her differences, despite everything. I think she is here to teach us that our well can run over with joy if we just live simply, happily, and with loads of love for the world. She accepts everyone just as they are. On her birthday, I hope the world can see, above everything else, that love and acceptance is indeed all we need.
I still worry about her as she grows up, that her differences might matter more. To others. To her GPA. To herself. To colleges. To peers. But I recently watched a video, 1,000 Miles of Luca, and realized a simple truth. We don’t spend time with people because they are the smartest, the most academic, the most athletic, or the most articulate. We spend time with people because of how they make us feel. I hold fast to that today because I am celebrating my amazing daughter and the ripples of joy she has spread in only nine years. The sky’s the limit, baby. The sky’s the limit.
My daughter is the brightest light I know and despite the many clouds that have covered her sky in the past decade, her star remains, forever twinkling. My daughter, Nadia, has 22Q11.2, a chromosomal deletion that made her early years almost unbearable in their uncertainty and responsibility, the sterilized smell that permeates every hospital and doctor office still brings me instantly back to those dark and stormy days, her surgeries and those long and sleepless nights. Yet even when Nadia was an infant and toppling toddler, I always knew that no matter what her deletion had taken away from her, her spirit had given her this enormous dose of joy, unparalleled and raw. Her happiness sparkling all the more in such stark contrast to the despair I felt in caring for someone whose needs that were not in the index of my well-used parenting book from rearing my firstborn. My teary uncertainty always balanced by her surprising ability to seem to know just what we needed to keep the faith–to belly laugh before I knew she could hear what I was saying, her coy smile beaming at me from her infant car seat on the way back from long specialist appointments, her jokes in sign language after speech therapists told us to consider a laptop to type her thoughts, her ability to dance the macarena with ankle braces and not miss a beat. For years, we have tried our best to find the right path for her, with doctors, teachers and life, but without a doubt, Nadia has lit the way…in her inexplicably fearless way.
All along we have been saying to ourselves that it is remarkable that Nadia’s spirit, unlike her immune system, remains uncompromised. In the 29 years before her arrival, I never realized all of the things I took for granted. I honestly never gave a thought to how little it would take to make me happy after seeing our dreams crumple when our daughter was first born and we realized she would always have to struggle with things we had never before counted as blessings–the luxury of two kidneys, a normal immune system and hearing, a typical working memory and number sense. Even after heart surgery at 5 pounds, kindergarten at 5 years and a whopping 28 pounds and middle school at 10 years and under 4 feet tall, Nadia still appeared, until recently, to be larger than life, her loud chuckle enough to spread cheer on even the hardest of days. Her joy and her boundless affection the perfect antidote for her silent battle with a missing piece of chromosome, one that robbed her of a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. Something that sounds complicated when I read about it, but incredibly, is even more convoluted in real life, the almost 200 known health and developmental issues 22Q causes in children impacting Nadia in big and small ways, in the past, present and future, like a dark unknown lurking at every corner. We try to ignore the list of worries and doctor visits and carry on with our chin up and our big, fat bucket list, determined to enjoy every step of the way after her tumultuous start. But, it isn’t easy, particularly when I see Nadia’s light flicker, dimmed by life, by IEP’s, by cruel kids, by differences and ignorance, by things that matter to her, the simple, but the oh so complicated.
As Nadia enters her third month of middle school, I will admit that the transition has been akin to expecting to drive over a speed bump and instead finding ourselves driving up Mt. Everest in a Yugo. I say driving up, because we haven’t yet reached the pretty part, the part with the view, the part with the downhill, the easy coast at the end. This appears to be the part where I am putting the pedal to the medal and yet accelerating just to gain enough momentum to move my car, my daughter, slightly, imperceptibly forward. It is a big mountain, and most days, I honestly can’t tell if I have made any progress, or more importantly, if Nadia has made any gains, because the view up the huge mountain looks the same. Daunting. Nearly impossible. Never-ending.
I keep referring to Nadia’s IEP like it has all of the magic answers to scaling the mountain of public education with a daughter whose IEP has health and learning components that are supposed to help her in almost every possible area of school–from germ patrol for her severely compromised immune system to gym patrol for her fused spine and joint pain and solitary kidney to reading, writing and math, for the areas of her brain and memory that were all impacted by that missing minuscule piece of chromosome 22 . Apparently, that sequence of 3 million DNA base pairs had a lot it was supposed to do. Go figure. Unfortunately, asking a new middle school team with a complicated schedule of teachers, aides and classes to accommodate Nadia’s deletion based on her IEP is like trying to ask Nadia to drive herself up the mountain, with limited directions, no license and no GPS. She may be able to stay on the road, she may even be able to keep up with the other cars for awhile, but she would have no idea where she is going, other than going with the flow. No, she isn’t causing accidents and holding up traffic. She isn’t flagging someone down to say she’s lost. But, she has no business being behind the wheel. She doesn’t know how to navigate the road ahead, she doesn’t even know where she’s going. Sadly, this is precisely the way her middle school day progresses. When I ask for feedback, for special directions, for a navigation system, for modifications so that Nadia can see over the steering wheel, can get to where she wants to go, the teachers seem puzzled, frustrated and disjointed, their part of the trip a small part of the journey, unaware that without each piece, Nadia isn’t moving forward. That she might, God forbid, crash. The teachers don’t see her when she comes home at night, crushed and feeling completely lost.
As Nadia continues to come home each night with an empty planner with the exception of “Read,” despite 8 classes in her schedule, my hope in special education, in appropriate, individualized instruction dwindles and Nadia, my larger-than-life little one, finds her confidence shrinking as well. “How’s Gym?” I ask her, hoping to find a neutral topic. She replies, “I bombed it.” “Gym?” I ask again. “No, German. Or Gym,” she replies. “That’s too bad. How come, peanut?” I ask, feeling my heart sink as she shrugs her shoulders, “I’m not sure.” She switches gears, “I am supposed to make a flag of John Cabot, though.” Hmmm. That’s a new one for me, but it turned out to the epitome of why switching classes and teachers multiple times a day in middle school is the less-than-exhilarating uphill climb.
I proceeded to ask Nadia about John Cabot, who is apparently an Explorer that she’s learning about in Social Studies. I said, “Well, what do you know about John Cabot?” “He’s from 1492,” she says. “Were you born then?” she asks, staring at me with her big brown eyes. “Nope,” I say. “That was a really long time ago, Nadia.” “Was Dylan?” she wonders, even though he is her 13-year old brother, her deficiency in her sense of time not allowing her to understand the timeline of events, past or present. ” Nope,” I say again, wondering if I should explain how long ago it was, but she interrupts, “He was an Indian explorer from Italy, I think. I make notecards.” “Do you have a test coming up?” I inquire. She ignores me and continues, “He sailed seven seas. I think, and I have to find his flag and color it.” She walks over to our computer, googles “John Cabot flag” independently, pulls out a piece of white paper and starts sketching the flag. Perfectly. She colors it in and as she does so, I feel ever-so-slightly reassured. I compliment her, “WOW. I didn’t even know explorers had flags. That’s impressive, Nadia. What did he do when he was an explorer, do you think?” She contemplates the question, and guesses, “Mine died. Looking for gold?” Hmmm. Without knowing who John Cabot is, I try to summarize my surprisingly limited recollection of explorers, thankful it is was recently Columbus Day and I refreshed my memory, and she replies, “Did you know those explorers?” “No, sweetie,” I say, tears suddenly stinging my eyes. As she’s coloring, she says with a big smile that lights up her face, “That would have been exciting, wouldn’t it?” Yes, yes it would, I think, staring at her twinkling eyes. Deep down, Nadia is still happy and she is healthy enough to attend school. I need to keep my eye on the prize, I tell myself. On her extraordinary light.
I read a quote recently from Yogi Bahjan, part of my more-zen, less-wine approach to our middle-school struggles, and every time I reread it, I can picture Nadia, my shining star, “Every human needs loftiness: exaltedness, self-confidence and appreciation. To be grateful that we are alive at this moment and we are alive together. It’s like stars in the sky on the same night. Some are big, some are small, some are shining. Some come late. Some come earlier. But in the brim of the night, all are lit on their axle. On their orbit, they exist. That is the condition of every human.” For Nadia’s joy and sparkle, and simply having her here with us, I am grateful. For today, for now, despite the uphill middle school climb, I try to remind myself that is all that matters.
I find myself
I find myself crying when I think about your past
When I gaze upon a newborn, sleeping without scars
When I listen to a toddler, talking without fault
When I watch surrounding children, growing up carefree
Then I gaze upon your scars
Then I listen to you struggle
Then I feel a wave of sadness, so deep it drowns my heart
I find myself crying when I think about your future
I have surrounded myself with stories of blackness,
With tales of hollow and lives of despair.
I am worried for you, but I am scared for myself –
If I miss the signs then I lose you, a fate I could not bear.
So I find myself crying over things I hope may never come.
I find myself crying when I think about you now
When I think about the bravery you show
When I hear your joyous laughter
When I feel the strength of your pure love
When I see the way you make the sun shine through the clouds
So I find myself crying, but this time happy tears.
You are a perfect reminder to not look back and to not worry ahead
But simply find comfort and joy in the present.
Through you I have found myself.
by Lucy Jackson, Mother
Finding My Motivation with 22q
“I choose not to let my issues define me,” says Tom who just turned 40 years old and was not diagnosed with 22q until the age of 28. Life for Tom has not always been easy, but read on to find out how the will to succeed can help you to accomplish many things!
Tom Chase was born in Boscawen, NH, and talks about his childhood being different from others, “I had delays in most everything; walking, speaking, etc.” His first 5 years of life were spent in and out of hospitals. With several learning differences, anxiety, difficulty reading and taking tests he required constant help with school work. Since at the time he had no diagnosis, the administration at school told his family that he was “coddled” too much and “lazy”. Thankful for the frequent trips his parents were required to make to school for IEP and other meetings, Tom says, “I owe so much to my family, particularly my mom staying up late with homework keeping me busy with activities and making sure the schools did the right thing by me! And my dad was a huge help too in working and supporting the family.”
Growing up without any type of diagnoses Tom found it hard to make friends; they couldn’t understand his issues and of course, he was not able to explain. He did find a few friends he could trust and participated in activities best he could but most sports were difficult because of bad ankles. During middle school, he was bullied daily, physically and emotionally. Thus he disappeared in reading. This was until he discovered riding a bike. “I fell in love with biking I was on the road by myself miles on end, long trips short ones, didn’t matter.” High school wasn’t any better academically or socially. Tom’s mom signed him up for a swim team and shortly after he also started lifting weights both of which he loved. In his last year of high school, he got really sick and missed a lot of school but when told he wasn’t going to graduate, what did Tom do? He buckled down, missed all senior-related activities and graduated on schedule. After high school, he entered the workforce, “I chose not to let my issues define me if I can’t do the job it’s not for me.”
In 2000, Tom began martial arts training giving him self-discipline and confidence; this eventually led to him teaching Tae Bo and spin classes! But at age 28 Tom suffered an injury to his shoulder at work which required surgery. The injury activated many other issues including back and nerve pain leading his doctor to further review his medical history, he ran more tests and finally came the diagnosis, 22q. “This was a curse and blessing,” he says, “I can now explain things but it’s too late to receive help; funding, counseling, etc.” After the accident, Tom had many health-related difficulties and gained a lot of weight, in fact at one time he weighed 340 pounds. Just as doctors considered putting him in a wheelchair, his self-discipline kicked in and he took the matter back into his own hands by working out and eating healthy. Today he is just over 200 pounds, works out 6 days a week and posts videos of his beach body workouts for inspiration to others. Tom is a hard worker, working 40 hours a week as a custodian, “A good union paying job with benefits!” Happily married, for 15 years he and his wife recently purchased their first home and continue making plans for the future. Tom and his wife both have online businesses since his wife also suffers from health issues, Neurofibromatosis, they realize that one-day full-time employment outside of the home may not be an option. Tom’s self-discipline, work ethic and motivation is an inspiration to all!
What is Tom’s advice for others living with 22q?
For parents of children with 22q: “I would highly encourage parents to research and get their kids early help; grants, physical therapy and speech therapy.”
For children with 22q: “Functional fitness is huge, don’t go into hiding as I did. Be courageous, make friends lots of them. Enjoy growing up.”
For adults with 22q: “Don’t let 22q define you, you are strong and can do anything with the right support and training.”
Thank you, Tom, for sharing your story and encouraging so many others!
Living Positively with 22q
Moving from an adolescent with 22q to an adult with 22q can be intimidating, but if you just put one foot in front of the other and proceed forward, you will find yourself living as an adult on your own, with a job, hobbies and friends! This is how Adam Aelick has approached his young adult life.
When Adam was born in Sudbury Ontario Canada in 1998, his doctors suspected he had 22q at birth and after a week, the diagnosis was confirmed. He spent about 3 weeks in the hospital where more tests were run and his heart and oxygen were closely monitored. He had his first open heart surgery at 18 months of age. After several years in and out of the hospital with pneumonia, he had his second heart surgery at age 5.
Like many children with 22q, he struggled with school and didn’t have many friends but always knew he could count on his family. “I didn’t have one specific friend growing up, but I was always able to rely on my sister, my mom, and my grandparents.” High school is usually more difficult for those with learning differences and so proved to be for Adam as well, but he is proud to say, “I gradually intergraded into mainstream classes in high school.” “It took an extra year for me to graduate but I did receive my high school diploma with one of the highest grades in woodshop class in the school!”
For most students even without differences, it takes someone behind you guiding and maybe even giving you a push along the way. That someone for Adam was his mom. When he was about 15 his mother “forced” him into a non-profit music program, which he eventually fell in love with. “I was in it for years then I left because I turned 18 and the program is for 11 to 18 years old.” At age 20 Adam still loves to play his guitar and plays both acoustic and electric guitar, learning new music all the time.
Today Adam does require medication for depression, anxiety and a leaky valve, which he hopes to have fixed in the near future. However, he is living his own life working, making friends, learning archery and he is on a Special Olympics 10 pin bowling team! “My mom is always positive with me no matter what,” so with inspiration from his mom and a book by Quinn Bradlee, Adam started a facebook positivity page where he posts positive quotes and pictures almost every day. Follow his page and be inspired everyday!
Standing UP with 22q!
Samantha Lively was born on May 23rd 2005, at 3 pounds 10 ounces. She was premature, and had to stay in the NICU for 8 weeks. We were worried at first, as the doctors watched her struggle to grow, but she is a fighter and proved the nurses and doctors wrong. She encountered serious health issues throughout her infant life. She was finally diagnosed with 22q in 2009. Samantha has had heart surgery, multiple ear surgeries, palette surgery, and has several more surgeries to come. She will have her bottom and top jaw broken in a couple years, to prepare for adulthood. She has 11 specialists she sees on a consistent basis and blood drawn every three months, along with CT scans, and MRI’s yearly.
Samantha is now 13 years old, and has been through tough waters and still is standing strong. She has been bullied at school because of her face and teeth and the way she talks, but still fights back and stays strong even in her darkest hours. The bullying still happens, but has slowed down with the help of the school district bringing more awareness to the students. Samantha continues to rise above the bullying, and fight back. Samantha believes different is better, and she stays true to that mantra. She has a very strong voice and wants everyone to hear it!!!
Samantha got involved in the Oklahoma Children’s Network, and met other kids going through the same situations. She loved this program and it made such a strong impact on her life, that she started to make it her “calling.” She started doing volunteer work with them and went to a lot of events. She did a fashion walk show with Children Network, and with Miss Oklahomans. Samantha started to get involved in pageants that are natural or little makeup and she won a couple even with her looking different than others. She does volunteer work for others, collects toys and books for the less fortunate, and kids in the Children’s hospital. She shares her story to help others understand anything is possible and within their reach — and to never give up! She is living proof that anything is possible and even those with differences can win pageants and make an impact on the world. Sammy continues to make a huge impact on others, as she’s made it her passion. She wants to help everyone out, even if it means giving her own things away and doing without.
She won Miss Amazing Oklahoma Preteen Queen 2018 this year, which was a true blessing. She is now standing strong and changing the world little bits at a time. She now is doing more pageants and showing people different can be better, and is trying to become a model, do fashion shows and become an advocate for those with differences like hers, and working on creating a bill against bullying. She is ready to take this world on and make a change. Sammy is a miracle child and a blessing from above. She will work hard to bring greatness to others and bring about change. She has a dream to be Miss Oklahoma, an advocate for others, or a model one day.
Sammy has a voice and a plan. She is also a Royal Court Member for the new National Pediatric Cancer Foundation Share A Smile campaign. Despite how easy it would be to walk away, Sammy has begun public speaking, appeared on KOCO News 5, participated in a benefit runway show, met with a State Rep, a politician running for governor and a published model. She is inspiring and motivating others to defy all odds and never give up. All of this because one little girl was not afraid to dream and dream BIG!!
Enjoying Retirement with 22q
Denise L. Bonardi’s Story
I was born in an Englewood, New Jersey hospital on July 21, 1959 and I’m 59 years old. When I was very little, no one except my mother could understand me when I tried to talk, so my parents took me to a specialist and discovered that I had a paralyzed soft palate. Dr. George Crikelair, a famous plastic surgeon at Columbia University, operated on my palate to help me speak clearly. I was three years old at the time, and back then, there was no such thing as genetic testing, so they didn’t know the exact cause of my childhood issues.
I grew up struggling with medical issues. My childhood was lonely and I did not have many friends. School was not fun for me. I had to go to special classes for math and having bad hearing did not help either. Even though it was hard, I made the Honor Roll in High School. I did not go to college. Growing up, I liked to write and play my guitar. I also collected autographs. I have autographs from a lot of famous people.
I am proud that I have worked for many years as a cashier and was recognized for my excellent service seven times in a row! I have also traveled to England, Holland, Italy, and Bermuda.
At the age of 55, I was diagnosed with 22q. When I was first diagnosed; I was depressed. Now, I feel so much better and less alone because I have connected with other people with the syndrome, and I understand it better. I finally had an answer for all of the childhood problems.
My advice to anyone with 22q is don’t ever give up. Be strong–there is always hope! Live your life boldly. Always look on the bright side of life, and be happy.
Living Boldly with 22q
My name is Carson Weide, I am 17 years old and a senior at Paso Robles High School. I am heavily involved in many extra curricular activities. I have been on the high school swim team for the last 4 years, along with playing water polo. I am involved in 3 youth groups and play the drums on the worship team at my church. Just this year I finally signed up for marching band. I wish I had done it sooner. I love music. Music is my passion.
I was diagnosed with 22q in 5th grade. I always struggled in school. My parents were my best advocates. My mom spent countless hours trying to figure out why I was always sick and why I had such a hard time learning. Everyone kept telling my parents I was autistic. They knew that wasn’t the right diagnosis, but nobody would listen, so they went with it so that I would qualify for help. Fast forwarding to 5th grade, my pediatrician referred me to a neurologist. She suggested we do some genetic testing. 2 weeks later we got the call that made everything fall into place. That is when I learned I had 22q.
We were immediately sent to UCLA to meet with the genetic team. Since then, they have put together a 22q clinic. I met with the whole team every year for 6 years. Last year I was told I only need to come every 2 years. I was cleared from everything. My heart is very healthy, my one kidney is functioning just fine, I am totally healthy. I am grateful that I do not have any major medical problems that come with 22q. I do however have the mental challenges. I suffer from severe anxiety and OCD. I spent countless hours trying to find the right therapist to help me.. UCLA referred me to a doctor in our area and she was my saving grace. I did extensive cognitive behavioral therapy along with exposure therapy. My life was hell for a while. But I persevered, and I am now able to use my tools to manage it with out any medication.
I feel like I have overcome so many obstacles in my 17 years. I would love to study abroad at a disciple training school. My heart is leading me to New Zealand to spread the word of God. (My mom worries about me leaving, as I do not have the best sense of direction but that is what navigation apps are for, right?) I want to become a youth pastor when I’m done traveling. Just because I have 22q, I do not let that define who I am. My parents push me to my limits; tell me there isn’t anything that I can’t do. Sometimes I want to give up because I have to work extra hard, but they don’t let me. In the end, I know they were right and I’m glad I have them cheering me on.
My advice for anyone with 22q is to keep pushing yourself to do the best you can even if it’s hard. Life is good, even with 22q!
Living Generationally with 22q
I’m a 36-year-old French women. I learned two years ago that I have 22q. It’s possible to live one’s life without any knowledge of the diagnosis.
From a young age, I suffered from hypernasal speech. At 6, we discovered that it was due to my palate not reaching my throat (Velopharyngeal Insufficiency). So I had a surgical procedure on my palate and suddenly was able to speak more easily, but still had breathing issues. I went to a speech therapist three times per week to improve my speech.
Because of chronic flare-ups and inflammations, I had to give up on swimming despite my love for it. Today, I continue to have problems with my middle-ear function and may need an operation. I also suffered from juvenile arthritis and wore a chest brace from ages 11 to 17 to deal with scoliosis. It was a very difficult time in my life. I finally had spinal-fusion surgery with a metal rod inserted along the length of my spinal column.
Academically, I led a normal life. I was first in my class, and I received my baccalaureate degree in Applied Arts. I later earned master’s degree in Art History and Museum Studies.
I’m now the mother of three children—two of whom have 22q. For my 6-year-old boy, it has manifested as febrile seizures (fever fits) from the age of 9 months, as well as delayed speech and motor skills, hypermobility of his leg muscles, and chronic inflammation. Some of his issues have improved and he’s currently doing well at school.
Of my two 5-year-old twins (fraternal), only my daughter has the syndrome. For her, it presents as hypocalcemia, delayed speech, immune deficiency, hyperthyroid and a heart murmur. School is going well for her too.
I discovered my own 22q diagnosis thanks to my children, but I wish I would’ve known long before.
We are constantly seeing specialists to try to manage our health and improve as much as possible. We go to a family doctor, a pediatric neurologist, a physical therapist, a speech therapist, a microphysiotherapist, an osteopath and a homeopath, plus we’ve spent a year and a half with a psychomotor therapist/psychiatrist, not to mention all the blood tests and regular treatments for my daughter’s hyperthyroid.
My daughter also has triphalangeal thumbs where each thumb has an extra phalange. And my son has odontoid hypoplasia in his cervical vertebrae that we only learned about during an MRI for his seizures.
That’s my story. We’re learning to live with our condition and all the challenges that go along with it, trying to help others to understand and be able to support us. Unfortunately, my extended family tends to put their heads in the sand about it. No one else will take the test. But there you have it. There are certainly other illness and syndromes in the world that are worse. So we try to make the best of all of our moments of happiness because we only have this one life to live.
Living Patiently with 22q
Hannah Kathryn Schilling, Author & You Tuber
Students eagerly pack their belongings and begin the trek back to colleges this fall, for another year of college life in the dorms and off-campus housing… it’s the fun hustle and bustle that college towns look forward to each year.
Meet Hannah, a bright, enthusiastic young lady who is starting college this fall and getting ready to live in a dorm for the first time. This may seem like no big deal for some, but for Hannah, this is quite an accomplishment. Hannah has learned that if you work hard and approach your goals with patience, good things will come.
Hannah was born November 1996. At 4 days old, she was diagnosed with the 22q11.2 deletion. She spent many years in and out of hospitals, but the most difficult part of her journey was being non-verbal for the first 10 years of her life. She has also found it difficult to have a learning difference. As a non-verbal child for 10 years, Hannah learned to be aware of things going on around her, which she says is still a great asset today. Being non-verbal taught her above all — patience — which now, she’s conquered, and when questioned about it, will tell you straight out — “Now, I love talking and can’t STOP!!!”
Some of Hannah’s biggest challenges as a child included not understanding what everyone was talking about, and staying focused in class. It bothered her, but she fought through it. Today, she is beginning to understand that 22q had a lot to do with those challenges… and even though she has a better understanding of it now, the challenge is still there — just trying to understand the where and why of 22q.
“Going to Dragonfly Camp and meeting other people with 22q just like me, was a positive step in understanding 22q,” said Hannah. It is also one of Hannah’s favorite memories as a young teen. She felt that meeting and connecting with others with 22q, helped her to feel less alone and understand things better.
Today Hannah likes to shop, travel, swim, and craft. She also enjoys sharing her story on YouTube to encourage others with 22q. After working at TJ Maxx for 2 years, Hannah is now preparing to start college at Millersville University College, where she will have a tutor and live in a dorm! She has had lots of encouragement from her family throughout her years, and thanks her family for teaching her to, “Just be ME.” So, what is Hannah’s best piece of advice for a young person living with 22q? “Take time, just be patient, it will come.”
You can see Hannah’s story on her YouTube channel, Spreading My Word out for my 22q11.2 Deletion Syndrome, https://www.youtube.com/watch?v=CV9HPxzBHyE&feature=youtu.be
Living Musically with 22q
Musician, Actor and 22q? Yes, that describes Todd Simpson, an amazing Musician and Actor, with 22q Deletion Syndrome.
How can a child who underwent his first heart surgery at 2 days old then went on to spend 767 days of his first 3 years of life in the hospital grow up to be such an incredibly talented adult?
Todd does it through his music. He says, “Music is a great way for me to express what people with disabilities can accomplish! It’s more than just a good time, it is a spiritual thing.”
Todd has also been involved with Foundations such as The Dempster Foundation benefitting 22q and The International 22q11.2 Foundation as well as many other charities.
So how did it all start?
While he was in the hospital his nurse Valerie would play all kinds of music for him which he says has been a huge impact on his life today. Even though Todd’s activities were limited due to his health he says he was able to find his gift and purpose through music. At the age of 8, he picked up a harmonica while listening to his father Wes and friends playing guitars, after playing flawlessly they asked how he knew how to play, he responded, “I just feel it!” A few days after he found himself in Birmingham Al. playing at the City Stages music festival with Bluesman Willie King. At age 17 Todd amazed family and friends by picking up a guitar and playing it as if he had been for years. Todd does not read music or write lyrics, when he plays music he says he’s seeing color at the same time, what many see as a handicap he says is a blessing! In 2010 Todd had a part in the movie “Lifted” which he portrayed himself and featured two of his original songs. Todd’s music is deeply rooted in Blues but his band MoJo Child plays an eclectic mixture of traditional blues, original songs and interpretations of songs from all genres. For him, music is “an uplifting power.”
And what is Todd doing with his music today?
Todd continues to build his music career touring and performing with his band, Todd Simpson and MoJo Child. He was nominated for the 2017 & 2018 Alabama Music Awards in two categories: “Best Blues Male Artist” and “Rock Artist”. You can see him perform in various locations throughout Alabama and other states and you can hear his music on Spotify, Last.fm, ITunes, IHeart Radio, Google Music, Amazon Music, Pandora, ReverbNation, he can also be found on You Tube, Facebook and Instagram. Until you are able to see him in concert, Todd invites you to follow him on Facebook.
And what is Todd’s ultimate goal?
All of this sounds really exciting but for Todd is ultimate goal is: “To show people what they can do know matter what disability they have, this disability can actually be an ability”.
Living Creatively with 22q
Philip and Dawn Skowfoe III were happily awaiting the arrival of their second daughter, Isabel Skowfoe, who was born on May 23, 2002 in Upstate New York. She arrived a little earlier then expected and all seemed perfect after birth but just 24 hours later, our lives, as we knew it would be changed forever.
Isabel wouldn’t eat and her limbs started turning blue; there was something definitely wrong. The next hours are a blur as she was transported to another hospital to undergo open-heart surgery and so would begin our life with 22q11.2. She’s had two open-heart surgeries with more to come, numerous set of ear tubes, two tear duct surgeries, gall bladder removal, tonsil removal and so many specialists along the way….BUT this isn’t her whole story, it was only the beginning.
I want parents of 22q11.2 kids to know, their kids like mine, are still capable of making their dreams come true with hard work and your support.
Isabel has overcome so many physical obstacles that’s why I’m even more proud to say she has published her first book at the sweet age of 16 years!! She is an author!
I would appreciate your support by passing on the word of her new fantasy book which is available for purchase on Amazon and Barnes and Noble — “Sabrina Banner, The Soul of a Sorcerer” by Isabel Skowfoe This is Book One of hopefully a series if all goes as she hopes with your support!
Remember dreams are still possible no matter what obstacles are thrown your way!
Living Gratefully with 22q
My name is Kathryn. For the first seven years of my life, I struggled to breathe and live. I was born a preemie at 34 weeks. I am lucky enough to have a mother that is a Registered Nurse. She could tell something was wrong during pregnancy. When I was born, I wasn’t breathing. I was born black due to lack of oxygen. My apgar was 1:6 and I also failed the FAD and biophysical. I was in the NICU on a ventilator for a month after birth. When my mom finally brought me home, I used to code three times a day. I couldn’t swallow food due to a submucous cleft palate. My parents both started to realize something was wrong. At the age of two and a half, I went to a specialist, Dr. Robert Shprintzen. Through FISH, he diagnosed me with 22q11.2 Deletion Syndrome. The doctors detected my heart surgery, but I had struggled to breathe for so long that I only had a week to live by the time I had my surgery. I had a right aortic arch vascular ring heart repair. To this day, I still have a scar half way across my body. It is my battle scar.
I found out when I was older that some of my family members didn’t want to become close to me because they were afraid I was going to die. I was in and out of the hospital for seven years. I had still suffered from many health issues. I’ve had 21 surgeries to fix my health problems.
I still suffer from some medical difficulties. I currently have immunity difficulties such as: hypothyroidism, hypoparathyroidism, IgM deficiency, hypocalcemia and osteopenia. I also have many gastrointestinal issues and am currently seeing a specialist for gasteroparesis and GERD. I suffer from severe anxiety and PTSD, and receive help. I have learned that I need to keep up to date with my doctors in order to stay healthy and live a normal life.
In all honesty, everyone calls me a miracle. I somehow survived so many health hardships. I’m proud to be able to live a normal adult life. I graduated high school. I went to college for four years, but dropped out due to anxiety. I may go back to school one day, but for now I found full time work. I married my soul mate and we live together with our miniature poodle. I am proud to share my love of technology, art, and animals. I believe that my pets can sense that I am a miracle. I’m proud to be here. I’m proud to have seen some of the best doctors in the world. I hope that anyone who reads this will know that 22q comes in all shapes and sizes. I was one of the lucky fighters. I know you can be too.
Living Spiritually with 22q
MEGHAN BEGGS – Blogger, myjourneywithGod.org
Meghan Beggs is a young lady who was diagnosed at the age of 11 with 22q11.2 Deletion Syndrome in her own words, “I am a young women who has a big Heart for God”. Her desire is to help others love and accept themselves and to encourage others to get through their struggles. Today Meghan is a successful writer and blogger.
As a child, Meghan had many medical issues and learning differences. At the age of 11, she went to a doctor who was treating another patient who looked similar, he suggested a simple blood test and she was then diagnosed with 22q11.2 Deletion Syndrome. “I do wish more doctors knew about 22q so that people can get help sooner than I did,” Meghan said.
Meghan loves to learn, but says school was always a struggle because she learns differently. However, she did not let that stop her. One of her struggles is with executive function. A problem with the brain functions that impairs a person’s ability to analyze, plan, organize, schedule, and complete tasks.
“Sometimes it might take me a while to process things that you are saying to me, I don’t process it all right away and it may take some time for me to get comfortable in a new place, but eventually I will open up.”
Anxiety was an issue during her teen years that kept her from being social and attending school regularly. “My anxiety kept me from really enjoying anything fully and I would often cancel plans at the last minute.”
She began home schooling and tutoring in High School and graduated in 2014. Currently she attends class at Grand Rapids Community college.
As Meghan is maturing, she finds different ways to cope with her differences, like writing and encouraging others. Instead of focusing on her weak spots, she focuses on the things in life that are positive and can lead to a positive future. Meghan’s positive attitude is overflowing, and you can’t help but to feel her energy and passion in her voice or her writings.
“There are so many good things in life, if we could just look at the things we can do, and not the things that we maybe can’t do. Because when you actually look at the positive side, you will notice there is more that you can do than you think!” said Meghan.
“Don’t let anyone tell you what you can or can’t do. You are stronger than you think, just believe in yourself that you can do it!” Meghan shares. This strength has helped her to complete one of her greatest accomplishment of being featured in the Fall 2017 magazine “Shine Brightly”, from the Gem’s ministry.
My name is Nadia Zomorodian and I am 22 years old living with 22q. I was diagnosed at 2 years old and as soon as the doctors saw me, they told my parent’s she has Velo-Cardio Facial Syndrome. I have had 4 surgeries. Three when I was younger and the last one I had was 2012. I have had a lot of trouble with school, but I have never been held back I was always determined to do my best so I could stay with my best friends. Thank god I did because I got to graduate high school with them and now college. I just graduated college with a degree in photography. I have four jobs. I work in a clothing store where I am now on the register. I have been working in retail for three years, but never did the register because I was afraid I would mess up until I got my second job as a photographer at Daytona International Speedway and they wanted me to try it. Little did I know, I loved it. I told my boss at the store that I want to try the register now and she allowed me to. So now I am onregister at both of my jobs. I also just got a job for a film as a promotional photographer and an intern for a studio where I photograph weddings and events. My speech is really good. I doacting and modeling when I am not taking photos. I was in a few plays in high school and did acting school. That helped me become more outgoing. I was in speech therapy after I had my platelet surgery which was 3 to 9th grade. It was a good feeling when I was done with speech. I just want to tell you guys that your kid will be fine and don’t worry too much. Let them explore and have them find out what they do not like and do like. It will get easier when they get older.
Never give up!!! Always strive for your dreams. And I’ve done just that.I would like to take a moment and share my success with Q22. I was diagnosed with Q22 on July 14, 2010. Prior to being diagnosed with Q22 I’ve had 5 previous cardiac surgeries. 2 major and 3 minor. Tetrollogy of Fallot at the age of 4 back in 1984, a I.C.D. aka defibulator implant in 2000 after finding that I could produce a tachycardia arrhythmia at rest, a I.C.D. replacement in 2007, a Pulminary valve replacement in January 2010 and another I.C.D. of April 2010. I’ve started my martial arts journey back in 1985 with studies in Tae Kwon Do, Hapkido and Tai Chi. I currently hold an international rank in Tae Kwon Do of 2nd Degree and a school rank of 3rd Degree. With Hapkido I’m currently a 2nd Degree black belt and is recognized over in Korea. In April of 2014, I was inducted into the United States Martial Arts Hall of Fame in Indianapolis Indiana. I am the owner of Dearborn County School of Martial Arts and currently teach 33 students in Tae Kwon Do, Hapkido and Tai Chi. The martial arts is my passion in life and love seeing my students grow in character and becoming the students I know they can be. Throughout my life outside of the martial arts I currently am full time employed with Krogers and have been with the company for 4 years. With schooling, growing up with grade school and high school I was never an a/b student but did maintain a C average and did a couple of years in college. In school the activities outside of the martial arts I participated in was I was on the varsity Tennis team in high school and participated in band all four years with a percussion background. Prior to high school I played baseball all the way up through Babe Ruth.
This past Saturday, February 28th I had the distinct honor in participating along with my students in a demonstration / seminar / question and answer session on Q22 with Bettsy Leech with Children’s Hospital in Cincinnati Ohio. Some of the questions that was asked of me prior in an email was the following;
- What did you enjoy most in school? – What I enjoyed the most in school aside from being around my friends was the activities such as band and tennis that I participated in.
- How did you get involved in Tae Kwon Do? – My mother was the first that introduced me into Tae Kwon Do by putting me in a class that was here in Lawrenceburg and she knew the instructor. But also around that time back in 1985 after I was cleared from my doctors Teenage Mutant Ninja Turtles and the Karate Kid was very popular at the time. And that was what peaked my curiosity in the arts.
- When did you find out about 22Q and how were you informed? – I was informed that I had Q22 through a fish study through Children’s Hospital of Cincinnati back in 2010
- What are some of the biggest things you want to accomplish? – Though the Hall of Fame induction was a great honor, one goal I have is to see my students through their goals and achieve there dreams in the arts. But as a another goal. I do have a goal of opening up my own store location for my school here in town for as I currently run out of two rec centers with my classes. Also I plan on testing for my Master’s degree in Tae Kwon Do in 2017. But for a major goal when the time comes to test for my 5th Degree I plan on testing in South Korea at Tae Kwon Do’s head quarters. And just to grow in my other arts I study as well. Plus I would love to see through Tae Kwon Do to be included in the Special Olympics.
Outside of my studies in the martial arts one goal would be to be able to work with Children’s Hospital in Cincinnati in some way shape or form in connection with Q22 and help continue to spread the awareness of it. And to help others cope with Q22.
Never settle for second best. Always continue to set goals and strive them no matter how big the goal may be. I’ve never felt any different from anyone else. My step-dad asked me this same question after finding out about this and my exact words was no different. So never give up !!!!!! Always strive for the best in life and meet your goals in life.
“A teacher is never a giver of truth – he is a guide, a pointer to the truth that each student must find for himself. A good teacher is merely a catalyst.” – Bruce Lee
Living Resiliently with 22q
LINDSAY FLAX – Author, Teen With A Heart
Lindsay Flax is a beautiful young woman living resiliently with 22q. At the age of 22, she is living independently as she transitions into adulthood. Lindsay’s parents found out almost immediately after her birth that she had a heart murmur. She was then diagnosed with the heart condition Tetralogy of Fallot. Soon after that, doctors discovered there was something different about her DNA and after doing a FISH test she was diagnosed with 22q11.2 Deletion Syndrome. At the age of 4 months, Lindsey had her first open heart surgery, which would be one of many surgeries for her heart, feet, throat and just recently, a procedure on her artificial heart valve.
These struggles have not been a deterrent to Lindsey at all, in fact this is what drives her to accomplish her dreams. Lindsay attended private schools for children with learning differences for most of her K-12 years and graduated from High School in 2014. She is currently a Senior at Beacon College in Florida, the first accredited college to offer four-year degrees to students with learning differences. Lindsey has a caring heart and proves this by spending most of her free time working and volunteering. She has volunteered with Camp Brave Heart, her local Jewish Community Center and currently is working as an intern with the 22q Family Foundation and this summer she is working at a Jewish camp in Atlanta as an intern taking photos and teaching art. Lindsay has created a Blog: Teen with a Heart, which she started with the intention of reaching out to teens struggling with 22q, but says it has been just as helpful and followed by adults seeking answers for their children. There is also an e-book available on Etsy by the same name, Teen With a Heart, and was written as a guide for teens with 22q Deletion Syndrome.
Not many people would look at their differences as a benefit, but this is not so with Lindsay. Besides her parents and younger sister, who she says are the most influential people in her life, she attributes her success to the confidence she has in herself and what she can do, “I have learned so much from my Mom and when moments/days are hard, I just push through and make a way to get done what I can, if it’s in the way, I don’t let it be.” With all Lindsey has accomplished so far she says her greatest accomplishment is, “Just being where I am today!” So, what is Lindsay’s advice to others with 22q? “Always be yourself, things will not always go as you plan, but as life comes to you, never give up.”
Living Brilliantly with 22q!
Imagine you are 32, have a successful nursing career, married with 2 children and you are diagnosed with 22q! How could this be possible, one could ask…. Read on!
Robin Gramke was born December, 1985, 2 months premature. She struggled with feeding and reflux as a baby and toddler, having to be fed sitting straight up, by her parents. Robin was healthy with no known medical issues as a child, although she did have speech therapy throughout her childhood and always had a very nasal-sounding voice. At age 14, due to an illness that turned out to be rheumatic fever and Sydenham chorea, she discovered she had a soft-closed palate, which doctors attributed to her premature birth.
Through Robin’s eyes, she lived a pretty normal, healthy life. She had lots of friends, and like most kids, loved and hated school– but performed well, especially in Science and Art. Even though she was bullied in elementary school for her nasal voice, she says, “I never let that bother or define me.”
Robin graduated high school in 2004 and became a State Tested Nursing Assistant (STNA), in 2005. She says, “I didn’t want to go to college right away because I wanted to travel and have fun!” She traveled around several states in the US and then returned home to be with her family during her mother’s battle with cancer. She went back to school in 2006 to become a medical assistant and then nursing school in 2009. In 2010, on a Saturday in May, she completed nursing school and 2 days later started her first real nursing job. She was not officially a nurse until June 1, 2010, after passing the NCLEX exam (on her first try), and has worked as a full-time nurse ever since!
After starting her career, Robin met her soon to be husband and after a short romance (3 months) they wed in October 2011. Madison, their first child, was born October 2013 at 41 weeks with no complications via C-section (after Robin had been placed on bed rest due to preeclampsia). Robin continued working as a nurse until her second child, McKenna was born in December 2017 at 39 weeks a scheduled C-section. Robin loves her career and continues to work although with taking care of Madison and McKenna, it can prove to be taxing at times.
So, how does a healthy 32-year-old, successful, Licensed Practical Nurse and mother of two find out that she has 22q11.2 Deletion Syndrome?
After a normal pregnancy, her second daughter, McKenna was born with Truncus type 2, an interrupted aortic arch type B, and had a seizure shortly after birth (due to very low levels of calcium). McKenna tested positive for 22q11.2 Deletion syndrome, so her Genetic Counselor with the 22q Clinic at Cincinnati wanted to test Robin and her husband as well.
As many parents know, this was not an easy task. The insurance company did not want to approve testing since they claimed it did not affect McKenna’s quality of life or well-being. The Geneticist resubmitted the request for a FISH test instead of a Microarray test, the insurance approved and it was confirmed Robin had 22q. Robin then had an echocardiogram, which revealed an aberrant right subclavian artery, which can be associated with 22q.
So what is 22q to Robin?
It is a loving and uneventful upbringing in a great family, a good education and now a full adult life with a family and career.
“I realize I am not a typical individual with 22q”, Robin adds. “I had a very healthy childhood and I now live a great life. If McKenna was not born with 22q, I would have never have known about myself, so I want to raise awareness and help as much as I can with this,” says Robin. “I believe this is my calling now and my purpose.”
Gordon – Inspirational Speech
“My life experiences have taught me to accept things I cannot change and focus on things I can change through my efforts.” Gordon Lu
Congratulations to Gordon, a member of our 22q11.2 family graduating this year! Gordon will attend George Mason University (GMU) this Fall… and thank you to Gordon’s family for sharing his inspiring speech. Click here to hear more about Gordon’s journey.
Inspirational Music & Videos
- From 5 young women with VCFS who, together with a Dutch singer/songwriter Maud Wilms, produced a beautiful song about the challenges they face every day, and their love for life! Two of the women play the piano and flute in this song. The song has English subtitles. Watch now!
- Todd Simpson – Accomplished musician with 22q11.2 DS. Learn more!
- What would you tell yourself? This beautiful and inspiring video is a montage of parents and their heart-warming advice to others with special-needs children.
- Knocking Down 22q – An inspirational video of a young adult sharing the ways in which she copes with 22q