Running for 22q!
Daisy Sellas, a 19 year old student from San Juan Capistrano, California, is competing in her next race with 22q in mind! Daisy’s younger sister and best friend, Mandy, was born with 22q11.2 deletion disorder. Daisy and Mandy love spending time together and with their dog, trying new foods, baking and watching reality TV! Daisy currently goes to school in Nashville, Tennessee, where she is pursuing a degree in songwriting with a minor in social work. She loves to compete in long-distance running races all around the city. Next weekend, Daisy is going to compete in the Hot Chocolate 15k in Nashville, where she plans to raise awareness about 22q by repping an International 22q11.2 Foundation t-shirt and giving a voice to our population, sharing what we all know—that 22q11.2 often goes undiagnosed, and studies have shown it may be even more common than Down Syndrome! Please show your support by visiting www.22q.org and wish Daisy luck in the race next weekend! You can also donate to Daisy’s fundraiser on Facebook at: https://www.facebook.com/donate/289069291781715/@daisysellas517
“Don’t ever let anyone tell you who you are, because only you know who you are.”
This is how Nicole, a 32-year-old single mother with 22q11.2 Deletion is living her life. Nicole is from Burlington, Iowa and was diagnosed with 22q at the age of 3. While she didn’t have the heart issues many do, her parents just knew something wasn’t right, and when she wasn’t speaking at age 3, she went through a series of testing which revealed she had 22q11.2 Deletion. Like many other children with 22q, her childhood was a little rough, due to being in and out of the hospital. “It was tough, but my mom hung on and stayed strong through it all,” says Nicole.
Nicole was shy as a little girl because of a speech impediment. “I got made fun of a lot because of my speech. I cried every day after school,” said Nicole. She is thankful to have had the opportunity to be a voice against bullying when she was interviewed by her hometown newspaper about 22q; her story also ran as an ad to “Stop the bullying.” Being shy did not stop Nicole from being involved in activities outside of school, she did gymnastics as a little girl, played the guitar and took singing lessons, she took swimming lessons, took tae kwon do, and even played softball and basketball for her school.
All levels of learning in school were difficult, due to her learning disability. Nicole had an IEP, and was in special education classes up until high school. She struggled through high school, but graduated and today is attending a community college to be a Medical Assistant! Nicole says, “I am so proud of myself for going back to college and striving for my dreams! I always say, don’t give up keep moving forward no matter how hard 22q may hit you. Don’t ever let anyone tell you who you are because only you know who you are.”
Nicole has a 9 year old son who also has the 22q11.2 deletion, and like her, has learning disabilities and a speech impediment. When asked about her accomplishments she says, “I’m most proud of my son. He has made me who I am today!” And I feel certain she is teaching her son the lessons that have helped her get to where she is today, one of those being, “Don’t care what others think of you only worry about yourself.”
You can follow Nicole on the Facebook page she created to help support other mothers with 22q sons:
and on her website:
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!
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 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.