Faces of 22q. There Are Many.

Olivia »

Olivia Addison Barnes was born July 26th, 2005 weighing in at 6 lbs. 4 oz. The nurses and Doctors all gushing over her said that she looked like the picture of health. On the second day of our hospital stay all of that changed. They found that she had Truncus Arteriosis. At a later date [...]

Andrew »

Our son Andrew has Digeorge syndrome/22q deletion. He is so strong and tough. He is 8 yrs old and going into the 3rd grade. He makes A-B honor roll every year and plays football. Andrew has undergone surgeries since birth for many different anomalies such as; cleft palate x2, narrowed airway, webbed vocal cords x2 [...]

Lynwood »

Lynwood was adopted by me in 2009 in New York City. We recently moved here to Alabama almost two years ago. He was diagnosed when he was a baby. He had his first surgery before I came into his life when he was a little over a year old. He has stents placed, has a [...]

Jennifer »

I have a beautiful little girl her name is Jennifer. She is a miracle. She has 22q Deletion Syndrome, VCFS, Club feet, VSD. She had a Vascular Ring Repair, cleft palate and multiple ear infections, low immune, 25 percent developmentally delayed and she is speech impaired. She is a fighter! GOD has a plan for [...]

Andrew »

My son, ANDREW, was born June 2,1987, in Dallas, Texas. The pregnancy was normal and induced on the 2nd. Doctors detected a murmur at birth, and Andrew was whisked off to NICU. He was found to have a VSD and sent home to “watch” him on medications. Feeding time took forever due to his slow [...]

Fernanda »

Our beautiful Fernanda was diagnosed with DiGeorge Syndrome when I was 9 months pregnant. At 3 days old she had her first heart repair surgery, she stayed in the PICU & NICU for her first 3 months of life. She also was born with feeding difficulties, currently has a G-tube for feeding and cannot swallow [...]

Bailey »

 Bailey was born in December 2004 and came home from the hospital as a healthy little girl. At 2 weeks old her doctor heard a heart murmur during a routine office visit and we were sent to a pediatric cardiologist to make sure that nothing serious was going on. The cardiologist noticed that indeed [...]

Charlie »

The moment our first son, Charlie, was born we were almost instantly puzzled. He was almost 2 weeks early, just 5 lbs and he failed his newborn hearing screening. He also had funny looking ears! But, we were told he was fine and we quickly settled into life with a baby. I had difficulty feeding [...]

Michelle Leigh Padilla »

My name is Michelle Leigh Padilla. I was born April 15, 1976 at Tuscan Arizona. it was not until later on in life that i found out I had Di George syndrome and catch 22. i have graduated from Los Angles Harbor College with an AA degree. I am the first one in my family [...]

Sonia »

After freezing the adoption process when we found out we were pregnant and then losing that little girl we decided it was time to finish the adoption process. We had our last meeting with the adoption agency on a Monday and received a phone call that Friday saying there was a little girl available for [...]

Ava »

Ava was diagnosed with 22q two weeks after birth while still in the hospital recovering from her first open heart surgery. During her first two years of life, we had the calcium issues, keeping it regulated seemed like mission impossible! Ava was diagnosed as failure to thrive at about a month of age due to [...]

Olivia »

Stefani »

My Stefani was born 3 months premature, weighing 3 pounds, 5 ounces. She struggled throughout her life, but the many doctors she saw never put the puzzle pieces together and diagnosed her with DiGeorge Syndrome until at age 19 she had a seizure that landed her in an intensive care unit of a hospital. When [...]

Jackson »

Our story is a bit unique because me and my son both have 22q11 deletion syndrome. I, however, did not know until after my son was born. I grew up having some special needs, mostly my speech problem, which I had surgery for at 4.5 years old. I had velo pharyngeal insufficiency. I also have [...]

Jaiden »

On March 18, 2010, I went into preterm labor with my little man. They had an ultrasound done and told me he was disformed and I would need to get my labor stopped and be transported to a better hospital with a NICU unit. After we were transfered and my labor started up again they [...]

Ava »

Our story is like many others. At 20 weeks we were told something on our ultra sound did not look right. We were then advised to see a specialist at UCONN Medical Center. Soon after we had a level two ultra sound done were told our child would probable only have one functioning kidney. As [...]

Madison »

We met our little angel when she was already 6 weeks old. She had already had her first open heart surgery and her birth-mom was sure that she was not going to be able to care for her. We took custody of her and fell in love. We didn’t finalize the adoption until we were [...]

Fabiel »

I am the mother of 3 wonderful boys Danny 17, Fabiel 5 (22q11), and Fabian 4. Fabiel, was born full term by C-section. Hours after his birth I notice he was shivering. I thought he was cold so I covered him more. I was told by the Doctor that he is fine. At home he [...]

Peyton »

I had Peyton Decemeber 23, 201 —  she got rushed a few hours after I had her to Lawnwood Hospital and the met-lifted to Miami… they found she had a interrupted aorta that was also narrowed and constricted, also her heart had two holes in both lower chambers. She had open heart sugery on December [...]

Rachel »

Rachel was born with a hole in her heart. At 6 weeks of age, it was repaired and she was declared in good health. As she approached her first birthday, we noticed she wasn’t reaching milestones… crawling, sitting up, talking, walking etc. and we had her screened at All Children’s Hospital. She was diagnosed as [...]

Sean »

Sean was born December 26, 2004. His first day of life was a very rough start. We found out that Sean was born with a Restriction to the Aorta, several Heart Murmurs, low blood sugar, low blood plattes, droop to the left side of the mouth. At the time they didn’t even know what Sean [...]

Za’Niyah »

I have been blessed to be Za’Niyah’s mommy. She is the most precious gift ever given to me. When I was 23 weeks pregnant I went for an ultrasound. They found that she had a hole in her heart. We were rushed to a fetal cardiologist where I was told that it seemed that the [...]

Kristina »

Hey 22q community! My name is Kristina,growing up I was constantly sick and no one could figure out why.  When I was 12 I had my first seizure,then I had my second seizure at 15 at a baton competition.  I spent a week in an Orlando hospital,then got transferred to Boca Raton Community Hospital for [...]

Jasmine »

Hi, I am a mommy of child with 22q her name is Jasmine she is 11yrs old. She was diagnosed a little over a year ago after many hospital stays and heart operations to repair her tetralogy of fallot. She has had surgeries on her heart, diaphram muscle, throat, stomach. As a young mother didn’t [...]

PHILIP »

I my name is Philip I have lived most of my life not understanding what was happening to me. I did not find out that I had 22Q until I was 24 years old. Thanks to Children’s Healthcare of Atlanta I am here today because of the great people who has help me all these [...]

Chloe »

We were ecstatic to be having a baby girl! Our Chloe was born on December 18, 2009, just one week before Christmas. Everything seemed to be perfectly normal until she continued to struggle with eating. The nurses eventually took her for some tests and they found out her oxygen was low. She was then transported [...]

Bryce »

Bryce was born Sept. 2, 2005 in Rome, Ga which is about an hour away from Atlanta. I had an uneventful pregnancy and delivery. We were actually getting ready to leave the hospital when a nurse noticed that his oxygen saturations were different in his arms and legs. Being a pediatric nurse I knew immediatley [...]

Natalie »

Natalie was a beautiful 6 lbs. 7 oz. baby girl born in April of 2001. She had a few “choking” episodes at birth but nothing that sounded any alarms that something was wrong. At 12 weeks old she had her first UTI and after testing it was discovered that she had kidney reflux. Natalie began [...]

Madison »

As a mother to two healthy children already, I never expected anything to be different with a new baby. Madison showed us that things don’t necessarily go as expected. Finding out we were expecting our third child brought a lot of emotions. We had talked about having another child, but never really “decided” to. The [...]

Dylan »

Hello we have a son Joseph Dylan Shead, born 05/05/1998. He is now in 8th grade. He was diagnosed with q22 when he was 6-11 days old. He had a congenital heart defect and also clubbed feet. He had open heart surgery when he was 6 days old, he stayed at Children’s Healthcare for 18 [...]

Riley »

I have high blood pressure and am in my mid-thirties so I was considered high risk when I was pregnant with Riley. I had more sonograms than I can count so when Riley was born on October 7, 2010 at 9:15 pm I was not expecting anything to be wrong, other than a possible kidney [...]

Lindsey »

I’m Lindsey.  I’m also the little girl on the 22Q foundation website. Right now I am 16 about to be 17. I had my surgery at 6 months old. I have tretrology falout and I then had another surgery at 6 years old. I have a hard time with math. I have also had difficult [...]

Fontella »

My daughter, Fontella was born November 6, 2001 as a healthy little girl. It was not until the next morning, when the nurses relized that she was turning blue that something was wrong. She was diagnosed with DiGeorge Syndrome and required several surgeries: two heart surgeries, currently has a pace maker, blind in one eye, [...]

Ian »

This is Ian with his awesome service dog, Roscoe. Ian is an adorable boy who loves to jump, hang, climb and play like any other energetic 7-year-old. Ian was diagnosed with autism in October 2007. We later received the 22q11 diagnosis in August 2010 while testing for mitochondrial disorder through a genetic specialist in Atlanta [...]

Catherine Claire »

11 years! I can not believe that it has been 11 years since our “trip to Holland\” was born. As matter of fact in just a few days it will be the anniversary of exposure to 22q! Catherine Claire was 8 months old going in for her heart surgery (Tetralogy of fallet) and when the [...]

julianna »

Julianna was a beautiful baby girl who seemed to take a little longer to reach her milestones. We did not suspect that Julianna had a genetic defect at all; up until that time she had some minor issues with a small VSD and nasal regurgitation/low weight gain, which was helped somewhat with reflux medications. When [...]

Megan »

Megan was diagnosed with 22Q11 Deletion at age 10. Due to 22q Megan has a speech problem. We took Megan out of the public school system last year and placed her in a small private school. This proved to be an excellent decision. This summer Megan was afforded the opportunity to attend Camp Courage and [...]

Will »

On May 5, 1992 was one of the happiest days in our lives! Our son, Will made his debut that was quite memorable! Everything was great after delivery until one of the nurses came in to say we have taken Will up to Special care to have him checked out! From that moment on it [...]

Ramona Mae »

Our daughter, Ramona Mae, was born November 26th, 2006. Her birth was a much anticipated and joyful event. She was full term, weighed 7lbs. 5oz. and was pronounced healthy at birth. She slept quite a bit and was slow to nurse those few days at the hospital, no one seemed too concerned.

Abigail Elizabeth »

Our daughter, Abigail Elizabeth, or Abby as we call her, was born on December 15th, 2003. After years of battling infertility we could not wait for her to arrive. Labor was relatively quick, but with a few complications.

Andy »

My second pregnancy was announced at the 30-week ultrasound to be twin boys. We were thrilled and scared. After many pre-term labor scares and hospitalizations, the twins were born at 37 weeks weighing 5lbs 12oz & 5lbs 8oz (note: my first son was also born at 37 weeks and was 5lbs 9oz). Our 3rd son, [...]

Gabriel »

Gabriel joined us on October 17, 2006 , 5 weeks before his due date. As far as we knew everything was fine, he had to be delivered early due to my high blood pressure. Immediately after delivery, he was swept away to the NICU because he was having difficulty breathing. They first diagnosed him with [...]

Kylie »

Kylie was born Sept. 25 2008. It was the best day of our lives!! She got a thumbs up from all the doctors for being healthy. Shortly after she was born, we noticed her hands and feet were turning blue and she would not eat. The nurses told us just to keep trying to feed [...]

Laura »

Hello my name is Kathy my Daughter Laura was born with 22q. We did not find out she had it until after she had been home. After they tested her they tested me and told me i had the same. The first year of her life was filled with many visits to the cardiologist. they [...]

Alex »

My son , Alex, was born on Dec 3rd 2001. At 7 months preganant I learned that Alex had a congenital heart defect ( at that time was told it was Truncus arteriosis) and later an amniocentesis diagnosed Alex with Mosaic Turners Syndrome. After Alex was born ( at Evanston Hospital) he was put on [...]

Olivia »

Olivia and her twin brother R.J. were diagnosed at 18 weeks with serious complications. Olivia had no fluid which made it difficult for her to move and measure her growth. Doctors checked for a heart beat. She must have had a very tiny pocket of fluid hidden that helped with her lung development. Olivia was [...]

Erin »

Erin was born by C-section after a problematic pregnancy. She appeared to be a healthy baby, but had a weak cry at birth. Nurses in the neo-natal unit detected a strong heart murmur and Erin was placed on monitors. Hours after she was born, her dad, sister and I received the news that Erin most [...]

Anthony »

Anthony was born on June 29th, 2007 full term. We had found out on our 20 week ultrasound that Anthony had a heart defect which then prompted our amazing OB to order a more in depth study on my amniocentesis. Results of that showed the 22Q deletion. Heartbroken but determined we chose to continue with [...]

Camden »

Camden, 4-month-old son of Michael and Rachael of central IL, was born with a rare chromosome defect known as 22q11 or DiGeorge Syndrome like many others here. Camden spent the first 6 weeks of his life at the Children’s Hospital at OSF in Peoria to determine the severity of his condition which includes a hole [...]

Joseph »

Joseph was born June 24, 2008. Around nine months of age, we began to realize he was delayed in his milestones. We reached out to early intervention for assistance. Through our therapists we were referred to a developmental pediatrician; who referred us to a genetic specialist. After a chromosome resolution blood test, we discovered Joseph [...]

John Mark »

Our 26 yr. old son, John Mark, was born in 1987 with Spina Bifida, hydrocephalus, club feet, two holes in his heart and a soft cleft palate that was open. He was immediately sent to Children’s Memorial Hospital for his care. We did not find out what caused all of these medical problems until we [...]

Taylor »

Our daughter was misdiagnosed and had cardiac arrest at a week’s age. She was in the hospital for the first two months of her life and in and out of the hospital up to the age of 18. When we rushed her to the emergency room at a week old they administered a interastio iv [...]

Maeve »

Maeve is our youngest child, and was diagnosed with 22q.13 (Phelan McDermid Syndrome) when she was 2. She is a happy, high energy bundle of joy who loves to run around, play with her older siblings, and make every day count. While Maeve has fairly significant developmental delays and little speech, she is highly social [...]

Danny, Anna and Mom »

I have a long and detailed story so I’ll try and keep it to the point. I had Danny in 199l5; he spent 31/2 long weeks in NICU couldn’t eat and swallow without choking or turning blue. He was transferred to Christ Hospital in Oaklawn after spending two weeks in NICU at Central Dupage Hospital [...]

Olivia »

I found out at 34 weeks pregnant that my unborn daughter had truncus arteriosis. When Olivia was born she had a small (not fully formed) right ear and most noticably assymetrical crying face. The geneticist came and told me that they were going to test her for 22q and that she would have the results [...]

Addison »

Where to Begin? November 29, 2009 We were getting ready to have Thanksgiving dinner that night. We got to my mom’s house about five minutes from ours and just felt crappy. Couldn’t eat, finally laid down for a bit was not helping. A little while later I got sick, I knew something was wrong then. [...]

Nicholas »

Our son Nicholas was born almost 4 weeks ago. We already had 3 children, and we were not planning on having any more. Then unexpectedly we found out we were having one more. Nicholas was born at 10:08 a.m. on the 11 year anniversary of my father’s passing. later that night the nurses found that [...]

Sydney »

Sydney was just five days old when she had her first heart surgery — a surgery that would only be a temporary fix until she was strong enough to endure a partial transplant of a portion of her heart. Due to the oxygen levels in her blood being so low, a tiny shunt kept the [...]

Owen »

Our 13 month-old son Owen was just diagnosed yesterday and we are overwhelmed to say the least. We are so grateful for all the stories on this page. It is so nice to know we are not alone.

Austin »

Austin blessed our lives 9 weeks earlier than expected. He was born at 31 weeks, 4 lbs, 4 oz and 15.75″ long. He was taken to the NICU where he spent the first 2 months of his life. After 5 weeks of being in the NICU, needing to be resuscitated and having feeding challenges, we [...]

Blake »

Our son was diagnosed with DiGeorge in May 2012. Here’s his story….Blake was born on February 25, 2004. He was 8 weeks premature and weighed in at a whopping 3 lbs! His troubles started immediately with feeding & swallowing issues due to tracheomalacia. Then the respiratory infections started…causing him to get pneumonia several times every [...]

Bobby »

Bobby was first diagnosed with 22q11.2 deletion syndrome in May 2012 at the age of 3 1/2 years old. Bobby was having issues with speech and was becoming frustrated with the fact that we couldn’t understand what he was trying to say most of the time. We scheduled a speech therapy evaluation through the public [...]

Juan »

Juan was diagnosed with 22q11 Deletion Syndrome shortly before Thanksgiving 2008. He was 3 1/2. Most people would have been devasted by the news. I was happy to finally have a name for my son’s condition. Juan has had issues since before he was born. Of course, no one thought there was anything wrong. The [...]

Adrian »

Adrian was diagnosed July 2012 right after he turned 3 years old. His father was diagnosed shortly after at the age of 42. He has been in out of hospitals since he was 4 months old. Despite spending a lot of his time in hospitals he is such a trooper. He loves Elmo. Adrian just [...]

Anthony »

Anthony was diagnosed with DiGeorge Syndrome at birth. By the time he went to school the health issues were minimized (T-cell count is the only major issue). Anthony was given an IEP in Early Intervention (age 3) and at the end of 1st grade his school took it away because he was making progress. In [...]

Nora »

When my daughter Nora was born, the only visible abnormality about her was a misshaped right ear. She was a very sleepy baby, needed to be woken up for feedings. About one week after her birth, her pediatrician heard a heart murmur. We were sent to Children’s Memorial Hospital in Chicago, where she was diagnosed [...]

NATE »

Nate the Great!! At 3 1/2 years of age, after a visit to the ENT for PE tubes, I was shocked to hear the doctors suspicion of a 22q11 diagnosis. After confirmation, we had our “aha” moments, seeing how all of Nate’s issues now all made sense. We are blessed to have avoided many of [...]

Craig »

Craig was born 9/23/08 after a relatively normal pregnancy. We knew he had hydronephrosis but that was all. I knew from the moment I met Craig that there was something wrong but was assured he was a healthy baby boy. He failed to gain weight and quit eating after a month of age. I fought [...]

Anelise Josephine Mills »

Anelise Josephine Mills was born March 15, 2007 in Cincinnati, OH. Anelise is my first and only child to date. Finding out I was pregnant was exciting and scary all at the same time. I could never have prepared myself for the ride we have been on sine 2006. I mentioned to my midwife that [...]

Olivia »

At just 2 days old (still in the hospital), I began experiencing significant respiratory problems and turned a disturbing shade of grey. Mommy, Daddy, and the doctors were all concerned, so an echo was sent to Rush Memorial Hospital in Chicago. Mommy and Daddy were told it could be my heart, but were obviously hoping [...]

Bella »

Hello, My name is Lisa. I have a 22-month-old daughter named Bella. Bella was diagnosed with 22q Deletion Syndrome a short time after birth. Bella was ready to come home from the hospital after birth and I went to get her from the nursery. When the nurse handed her to me I felt something was [...]

Nixon »

Hello, we are from Regina, Saskatchewan, Canada, and this is our story. On December 16, 2012, our son, Nixon was born into our world weighing 7 lbs., 2 oz. At our 20 week ultrasound, we had been first been made aware of a congenital heart defect. Throughout our pregnancy, my wife and I were informed [...]

Addison »

Addison was born on May 4th, 2007. She was a full term “C’ section baby. At first glance like most births she appeared very ‘normal’. She did however, make some strange squeaking like noises. Four days in the hospital produced no answers, so we took her home. 10 days after the birth she had a [...]

Taya »

Taya Grace was born on May 1, 2009. We went home 3 days later with a healthy baby. We soon found out that Taya had many things internally going on that we didn’t know about. 17 hours after being home on May 4, we returned to the ER ten minutes from our home. A few [...]

Kyla »

My husband texted me and said “go to cubs.com.” It’s December – baseball is over for the season. Why? “Ryan Dempster’s daughter has DiGeorge.” My ears perked right up. Our daughter, Kyla, now age 7 was diagnosed shortly after birth with 22q11.2 deletion syndrome. When I was pregnant with her, the ultrasound showed a “shadow” in [...]

Andrew and Caleb »

Andrew was born July 11, 2003. The doctors rushed him to a local childrens hospital, where he had open heart surgery seven days later. The surgeon repaired his heart defect called truncis arterious. Later that night Andrew had to be rushed back to the O.R. due to complications after surgery. Andrew was diagnosed with 22q [...]

Ethan »

We found out May 2009 that we were going to have a child together. We were so excited! Well I had a very hilly pregnancy it had started in June. I had started to bleed it wasn’t just a little bit, it was a heavy flow. We had thought we were having a miscarriage. We [...]

Lindley and Alex »

Hello! My name is Stephanie and I have two children with the 22q deletion. There is little information on the deletion. Due to the lack of information, I frequently use the list of deletion symptoms as a point of reference. This is especially true for when I speak to others about their diagnosis (mostly doctors, [...]

Bennett »

BREAKOUT QUOTE: “I felt isolated and alone because none of our family or friends had ever heard of 22q. I decided early on that I wanted to be an advocate for Bennett and for others like him.”—Darla Legnon Louviere, Bennett’s mom Shedding Light On A Rare Genetic Disorder By Cheryl Robichaux Even though he struggles [...]

Connor »

Connor Philip Bourg was born November 1, 2010 via scheduled C-section. There were little things along the way that just didn’t seem right, but none of these were disturbing enough to warrant further testing. At 16 months Connor still wasn’t walking or talking so we began the process of having him evaluated through Early Intervention [...]

Maren »

Maren was born on June 18, 2004. Right away, there were signs that something wasn’t right. Maren was unable to nurse and she turned blue and had nasal regurgitation during bottle feeds. When we were discharged from the hospital, the neonatologist’s last words were “She’s fine. She\’s just going to be more difficult than most.” [...]

Monica »

Monica was born without the ability to swallow, spent her first 6 months in the hospital and had a tracheotomy and feeding tube until she 14 years old. She was diagnosed at 2 years old. After many years of treatments, procedures, therapies, surgeries and a lot of other interventions, she is becoming a remarkable young [...]

Colleen »

My name is Colleen Crowley. I am 21 years old and I also have VCFS! (or 22q11.2). I live in the Boston area and yes, I am a HUGE Red Sox Fan! I was diagonosed with DiGeorge Syndrome at birth, then VCFS. VCFS did not exist when I was born! My parents tell me that [...]

Andrew »

I had a very easy pregnancy. All ultrasounds and prenatal checkups showed a healthy baby boy. My labor wasn’t too bad and on November 24, 2009, Andrew was born at 7 lbs, 7 oz, 21 inches long. Andrew had some issues while we were still in the hospital. He was choking on the breast milk [...]

MaKenna »

My daughter was born August 7, 2010 I just found out she has DiGeorge Syndrome. She doesnt seem to have much of the symptoms. She sleeps alot, she might have a narrowing in her trachea which causes her to wheeze alittle, and she has low set ears. She has yet to have all her test [...]

Aubree »

Aubree was sent down from heaven on June 18, 2008! When I would hold her I’d notice her little hands and feet were SO cold all the time. They took her to the NICU and the next thing I knew I had a Pediatric Cardiologist in my room trying to explain what he knew at [...]

Ian »

Ian is 9 years old and was diagnosed with Microduplication 22q11.21 December 23, 2010. He was the third in our family to be diagnosed. His younger sister has it also, and his father has it, which was never known until after our daughter was diagnosed. The medical issues Ian has endured from birth now have [...]

Laney »

Laney was diagnosed with Microduplication 22q11.21 on June 25, 2010. That day changed our lives forever. She has struggled since birth, and after five years, we finally had a reason as to why the struggles were there. They continue, however we have been blessed with a wonderful team of doctors here in Michigan at DeVos [...]

Isabella »

I have a father, three siblings, myself and my daughter who all have 22q deletion VCFS digeorge syndrome. Testing of not only the child but of both parents is very important in getting the help you need to take care of you and your child with 22q. Here is my story. I’m Amanda Ripsam. I [...]

Jacob »

Our son Jacob was born 10/01/1997, full term. It was not until his birth we realized something was wrong. Jacob was flown to ST.Mary’s in Rochester, MN, right after birth, where they discovered he had a very severe form of pulmonary ateria with several vsd’s. My husband and I were young first time parents and [...]

Giacomo »

Hello, My son who is now 3yrs old was born with 22q11 DUPLICATION. At first we thought he was a healthy baby boy, but after 2weeks of vomitting through his nose, we knew something was wrong. We took him to Mcmaster Childrens Hospital in Hamilton and they found he had a Soft Cleft palate , [...]

MaKennah »

MaKennah was born May 2, 2008 at 8:52pm. Shortly after birth she was given and clean bill of health and we were released 2 days later. Everyday she had bright purple feet and the doctors said that they will eventually turn pink, but that never happen. On May 21, 2008 at 9am I took her [...]

Maisy »

Our little sweetie, Maisy, was born with DiGeorge Syndrome. We knew during the pregnancy that she had a serious heart defect known as TOF with severe Pulmonary Atresia, and knew it was possible she would be born with DiGeorge Syndrome also (because of the type of heart defect.) Maisy was born a month early at [...]

Sari »

On March 24, 2011 I received a call saying, “a 7 week old baby girl just came available for adoption… She has DiGeorge Syndrome.” I was surprised when my husband said “Let’s get her, she needs a home.” The more we found out about her medical condition, the more scared I got. She also has [...]

Thomas »

I had polyhydramnios and failed 3 inductions, and was one week past the due date when Thomas was born on September “22,” 1997 via C-section. As soon as I saw Thomas across the operating room, I said “Is he supposed to be that color?” as he appeared slightly ashen. A couple hours after birth we [...]

Kimberly »

I am 30 years old and was born with the heart condition called tetralogy of fallot. I have had 4 open heart surgeries. my first 2 was to re pair the holes, my 3rd was a valve replacement at the age of 21 and after that i was diagnosed with 22011. A few years later [...]

Teddy »

Teddy is our beautiful, tough little man, that is now 8 months old!! Teddy was born on June 24th, 2009. He was diagnosed with Di George Syndrome one week later. He has a major heart defect called Tetrology of Fallot, has had one heart surgery, and we are preparing for his complete repair the end of May 2010. Over the past 8 months we have built up a wonderful team of doctors and therapists to help him. We are happy to say that Teddy is a happy little boy, who laughs and smiles all the time. He is sitting up, rolling around, and trying to get into everything.

Kenlie »

After a totally healthy uneventful pregnancy Kenlie was born at 39 weeks on December 18th 2008. She was a beautiful little baby who looked perfectly healthy. The night she was born her oxygen saturations dropped while in the nursery, long story short she had an echocardiogram done and her Dr came to tell us they [...]

Amberly »

Amberly was born at 36 weeks via emergency c-section weighing 6 lbs. 1 oz. She was very blue and her doctor could hear a murmur. She was refered to Children’s Mercy cardiology where we found out she had TOF and she was sent for testing for DiGeorge Syndrome. The test came back negative so of [...]

Mark »

Mark received his 22q diagnosis prenatally in September 2000. Ultrasounds had shown TOF with Pulmonary Atresia, lung cyst and club foot. I had the FISH test three weeks before he was born. Mark was delivered by scheduled C-section with a plan and team in place. Fortunately, he was stable and received a BT shunt at [...]

Robert »

Robbie is the light of our life! He has been with our family for over 2 months ago and is a happy loving sweet little boy. On May 20, 2012 we received a message from our adoption consultant that there was an agency needing to find homes for two sweet 3 month old baby boys [...]

Samuel »

Sam came early! His announcement said, “He just couldn’t wait!” I was 32 weeks along in my pregnancy and my water broke! I held off 2 weeks in the hospital before going into labor. We had no idea while I was pregnant that Sam was going to have problems. Other than my preterm labor. He [...]

Jeff »

Jeff was born on November 23, 1992 and we immediately knew he had a cleft of the soft palate and low calcium levels. We were told that nothing else was wrong with our son. We took him home on Thanksgiving Day that year and he immediately began having feeding problems. We struggled with these feeding [...]

Tanner »

Tanner diagnoses was not made until he was 11 1/2 years old, but the signs and symptoms were there since birth. As an infant he suffered with nasal regurgitation, repeated respiratory infections, constipation, and slow motor development. At age 2 he started in our Early Childhood Special Education program where he received services for delayed [...]

Sophia »

Sophia was born full term and the only complications was polyhydramnios during pregnancy (too much amniotic fluid). Soon after birth she was diagnosed with failure to thrive because of her difficulty eating. By 3 months there was concern about her low muscle tone. We started physical therapy two times a week at 3 months of [...]

Piper »

Piper hit 3 months old and just stopped growing. She was 20 days old and in the hospital for a fever of unknown origin and she would projectile spit up out her nose always. She’s been on zantac since 20 days old has now since switched to prevacid. She was diagnosed as failure to thrive [...]

Morgan »

Morgan was born full term in October 2006. Just shortly after birth, one of the nurses noticed her turning blue and choking on her feedings. She went through several tests and was sent home to us after 5 days in the hospital. We were told she just had severe reflux. Each day was a struggle [...]

Kate »

My daughter Kate was born full term on April 29 and was deemed at that time “perfectly healthy.” Within a week, they heard a murmur and we were told she had a small VSD that may present itself in minor ways in the coming months but more than likely, it would heal itself and she [...]

Logan and Jonathan »

Our personal story began a little over a year ago when I had an ultrasound at 12 weeks for our 4th pregnancy. I have never been more petrified than the moment the tech left to grab a doctor. She was cold, concise and got right to the heart of the matter. She very abruptly stated [...]

Eva »

Eva Jacqueline was born on June 14, 2006 (Flag Day) in Albuquerque NM. Born to 2 active duty military members, Eva was the 2nd of our 2 beautiful girls. Eva was born 4 weeks early and was small for gestational age at 3 lbs., 15 oz. She was found to have imperforate anus and ventricular [...]

TJ »

TJ was born by C-section on August 2, 2002. TJ was also born with Tetralogy of Fallot. He was tested for DiGeorge Syndorme on his 3rd day of life. (the heart defect is sometimes the factor) TJ has the speech delay, low immune system. nose bleeds, nasally voice. He is a very out going little [...]

Keon »

Keon was my third pregnancy, and throughout it was the hardest pregnancy. At 24 weeks my fundal height was measuring a 40 week pregnancy, the doctor insisted I was having a large baby, and I was eating very well. I figured since it was summer and I was invited to alot of cookouts he was [...]

Dominic »

Dominic is my fourth of five children. He was born full term and didn’t seem to have any problems. The first time I noticed something was not right was when I fed him. As he was drinking his bottle the milk was coming out of his nose. The nurses assured me this was normal but [...]

Bobby »

Bobby was born on May 24, 2010. When he was born, the pediatric heart doctor stated he had a loud murmur being caused by a small VSD. She indicated that this happens a lot and usually by the first year in life, the hole would close on its own. There were many times throughout Bobby’s [...]

Landon »

Landon is a very sweet 8 month old boy. He has been through a lot since birth, but continues to wake up with a smile every morning. March 30, 2011 Landon was born at 8 lbs 3.7 oz. We knew that Landon was going to need open heart surgery when born. So I feel lucky [...]

Jadiel »

My son Jadiel has been a blessing in my life and to our family. He has been through 6 surgery’s but he has recovered so well. I’m so proud of my little soldier. He was born at 34 weeks. He was 4 lb 8 ounces and when he was 3 days old he had his [...]

Zachary »

Zachary was a full-term baby. He had low growth issues as an infant. During his circumcision, it was discovered he had Hypospadias and that was repaired at age 7 months. He began having upper respiratory infections and breathing problems a few weeks after birth. At the age of 6 months, he began having ear infections. [...]

Robert »

On April 5, 2010, Robert was welcomed into the world and into our family. He joined his Mom (Debbie), Daddy (Harris) and his big brother, Harris (age 5). He was born at 39 weeks gestational via planned C-Section. He weighed 6 lbs., 8 oz. and was 19¼ inches long. His head size was 13.25. He [...]

JD »

My name is JD Mayo. I was born with a heart problem. I had 4 open heart surgery’s. I am now 29 years old. I have two younger brothers and one older sister who is married and I am the god father of her oldest daughter who is 7. I live on my own in [...]

Jerrell »

Jerell was born a little over 40wks. It was a struggle to stay pregnant that long. I had preterm contractions starting at 24wks and was in and out of the hospital and then on light duty until I delivered my little angel. When he came out, we first noticed that his right eye stated constantly [...]

Luke »

Luke was born on December 3, 2008, a healthy, head full of dark hair, weighing 6lbs. 12 oz’s and 21 inches long. When Luke was just 12 days old he was diagnosed with Interrupted Aortic Arch, VSD, narrow arch which was not completed, along with 22Q. All of which we knew nothing about during my [...]

Valerie »

Valerie was born January 22, 1997. She was delivered by emergency c-section at 36 ½ weeks gestation, weighing just 4 pounds and 7 ounces. As soon as Valerie was born she was whisked away to the NICU. After 3 days of close observation we were released from the hospital and began our parenting journey. The [...]

Connor »

Connor is our second of three boys, born in March 2007. His medical needs came as a complete surprise; we had no reason to suspect that he wouldn’t be born healthy. His first year was wrought with challenges; aside from his obvious physical defects, he needed immediate help with breathing and swallowing. It seemed every [...]

Kirsten »

Our story began on April 7, 2005 when we had a beautiful little 7lbs., 2 oz. little girl. Kirsten was our first baby and we were so excited to be parents. Everything seemed great, but we immediately noticed that Kirsten had a difficult time nursing. The nurse thought that she heard a murmur but the [...]

Caleb »

We didn’t find out that Caleb had the 22q deletion until after he was born. My pregnancy was normal without any complications. All my tests came out normal. I went into labor right on my due date. The only complication of delivery was that Caleb didn’t drop, so the nurses had to push him down [...]

Jack Ryan »

Jack was diagnosed at Age 2 following VSD repair surgery at CHOP. He is now a healthy, happy, very active 11 year old in middle school. Jack’s biggest challenge has been his behaviors in school. After constant struggles with our school district, I think they finally get it. I had Elwyn Institute Genetics Dept. come [...]

Hope »

Hope was very anxious to come. They had stopped my labor for almost two weeks when she was taken by emergency c-section on the first day of my 35th week. I had “genetic” testing done when I was pregnant and was told there were no problems or complications. She couldn’t hold her own body temperature [...]

Benjamin »

Benjamin was born full term on October 3, 2008. He was a seemingly healthy baby boy and all we knew at the time was that he had hypospadias, an abnormal opening on the tip of his private area. A few weeks before his first birthday, his pediatrician recommended we go see the Genetics Department at [...]

Patrick »

Patrick was diagnosed at three weeks. He has since had three open heart surgeries. Two of them occurred before he was 5 weeks old. He is treated at CHOP for his 22q. Patrick loves playing baseball, basketball and flag football (with typical peers). He currently attends a private Christian School in Manheim, Penn. He is [...]

Luke »

Soon after Luke was born the hospital pediatrician noticed he had a slight heart murmur, but told us that most baby’s are born with murmurs and they usually go away as soon after the baby is born. At 2 weeks after his circumcision healed our pediatrician noticed he had a problem called hypospadias, told us [...]

Noah »

Noah had 22q since birth. He was in NICU when he was born with a hole in his throat. We had to get him a g tube and tie his stomach becuse of reflex issues. We just found out that he has enlarged adriods and mild hearing lost. He is non-verbel and has speech and [...]

Alexaly »

Alexaly is our 6 year old princess. She was diagnosed at age 2 months when she was born with tracheal stenosis and many other heard conditions. She has undergone four heart surgeries, five tracheoplasties and many other surgeries. Alexaly had a gtube from two months old until four years of age and needed a tracheotomy [...]

Carter »

Our story began with a causal comment at a routine ultrasound when I was 30 weeks pregnant. The ultra sound tech mentioned that I had excess amniotic fluid and would need further tests done. Even at that moment, I didn\’t think anything could be wrong. I have a beautiful healthy little girl and just always [...]

Christian »

I found out Christian had Di George Syndrome when I was 5 months pregnant. The heart doctor said that his heart was so bad that they suggested I should not have him. I felt like that was God’s decision not mine. I had Christian one month early at 3 lbs. 14 oz. and he did [...]

Laura »

Laura Nelson is a vibrant young girl with heart for music and animals. Laura Nelson was born with a nasal regurgitation; her doctor’s said her soft palate had not formed. When it came time for Laura to start talking, she wasn’t. At two years old, Laura was diagnosed with 22q11.2. After her diagnosis, Laura started [...]

Madilyn »

Our first child, Madilyn Grace was born Aug. 9, 2009 at 38 weeks at 4 lbs. 10 oz. and 17 inches long. She was small but perfectly healthy. We took her home two days later. Every time she fed, milk would come out her nose. Her pediatrician said it was normal. I knew it wasn’t [...]

Elizabeth »

We found out about Elizabeth having 22q when she was 8 months old. She was admitted to Childrens Hospital for failure to thrive. When she was six weeks old she has her first surgery to repair her semi-imperforate anus. She was chronically constipated and the doctors kept changing her formula, which wasn’t working and finally [...]

Mason (AKA:NooDy) »

Mason Westbrook Millsaps D.O.B. 11/5/07 AKA: NooDy – NooDles He was born at 36wks and weighed lbs 13oz and spent 12 days in the NICU @ East Tennessee Children’s Hospital for respiratory distress. NooDy is a joyful, loving little boy who was diagnosed with 22q11.21 (duplication) when he was almost 2 years old. NooDy also [...]

Will »

Will Smith is a beautiful, happy little boy! He loves bubbles and going for walks in his stroller or gait trainer. We recently discovered the key to his heart is ICE CREAM SANDWICHES!! Will was born March 27th 2007 and is 3 years old. He has been diagnosed with 22q13 deletion syndrome, also known as [...]

Grace »

Grace was diagnosed with the 22q deletion at 3 1/2 years of age.  She has had three surgeries on her palate to help with her VPI. She has had speech therapy since 2 years of age. She had a vascular ring which was seperated when she was 5. She has a right cervical aortic arch, [...]

Amelia »

Amelia was born wih tetrology of fallot due to the 22q. Her repair was done at 3 months of age has been a success so far. Amelia recently tested out of Early Childhood Intervention after showing that she is on target in learning and development. She is truly are little miracle girl. Through testing, we [...]

Caleigh »

Caleigh was born in September 2000, and was diagnosed with 22q deletion at 3 months old. She’s had 3 heart surgeries, with an initial diagnosis of Tetrology of Fallot. Many other surgeries have followed, to include a sub-mucus cleft palate repair and pharyngeal flap surgery. In spite of her difficult start in life, Caleigh has [...]

Noah »

My son Noah was born with a congenital heart defect called Tetrology of Fallot. For the longest time, this is the only defect that we knew about. He had his first heart surgery when he was three months old. By the time he needed his next heart surgery he was three and we had discovered [...]

Mason »

Mason was born on January 28, 2008. Mason had a heart murmur at birth but it wasn’t until 2 weeks later that we discovered his 22q11.2 deletion. He had a VSD, ASD, and parachute mitral valve. Heart repairs were completed in August, 2008 but Mason still has a parachute mitral valve that we are monitoring. [...]

Tessa »

My name is Tessa K. and I am 26 (almost 27) years old. At 24 years of age I discovered I have 22q11 sequence. Throughout the course of my life I dealt with health challenges. I had an exceptional support system (my mother, stepfather, family and friends) and became involved in doing art and worked [...]

Andrew »

On Oct. 21, 1986 our first son was born and he had various health complications and heart problems. Unfortunately, James died 9 days later. On the Jan. 7, 1988 our second son was born and he was born with two holes in the heart. To get Andrew’s heart repaired we had to fly to Melbourne [...]

Sawyer »

On May 12, 2009 at 1:02 am, Sawyer arrived by c-section to the NICU team in the OR. They did not think there would be anything wrong, but was present for his birth since I had polyhydramnios and was considered a high risk pregnancy. Within his first minutes of life, he had trouble crying and [...]

Reagen »

After a 16-hour labor I was told that I would have to have an emergency C-section as Reagen’s heart rate was dropping. He was born with the cord around his neck. Right from the start we knew something wasn’t right; he wouldn’t stop shaking and he kept turning blue, which we were told by the midwife that [...]