Hi! My name is Joellen and this is my daughter, Maryn.

Our journey with 22q began before Maryn was born. At my regular anatomy scan, the ultrasound tech couldn’t get a great view of Maryn’s heart. She told me her son has a congenital heart defect, so she likes to make sure she gets great pictures of babies' hearts to help ensure parents have as much information as possible. The tech requested to do another ultrasound at my next appointment four weeks later. I’ll never forget that appointment. I went alone because my husband, who was active duty Coast Guard at the time, wasn’t able to attend with me. We had just moved to Cleveland a few months before, so I was so grateful that I had found another Coast Guard family to watch our 22 month old son. I remember chatting with the ultrasound tech about the upcoming holidays and what fun things Cleveland offered for the holidays. Then, she suddenly became silent. After a few minutes, she told me she had to get the doctor. I was scared. When she came back she told me the doctor wanted to see me again before I left. He caught me in the hallway and told me that my baby girl had a congenital heart defect and that I would need to see a perinatologist for a more in depth ultrasound.

A few days later, while Christmas shopping with my toddler, I received a phone call from a local hospital asking me to be there within the hour for testing. I quickly picked up my husband from work and we were off to find the hospital we had never been to before - with a hungry & tired toddler in tow. After almost three hours of ultrasounds Maryn was diagnosed with multiple heart defects (truncus arteriosus, a VSD and an ASD), this combination sent us directly to the geneticist’s office where we spent an additional two hours discussing 22q11.2 Deletion Syndrome.

We were not new to the world of 22q. Just over two years before that long December day, our nephew had been born with 22q11.2 Deletion Syndrome. The genetics team following me found this VERY interesting and were shocked to find out that neither my husband nor his brother had 22q. After that appointment, we were scared, but I was also 25 weeks into my pregnancy, so we decided to skip an amniocentesis and wait to do genetic testing after Maryn was born. Based on the severity of Maryn’s heart defects, my doctors had prepared us for the worst. I was induced in mid March, 2013 (the day before my due date) and we were all shocked at how amazing Maryn looked...she was pink and crying like a newborn should be. Unfortunately, at about 6 hours old, Maryn coded. The team was able to get her back and stable enough to have open heart surgery at 9 days old. A few days later her official 22q11.2 Deletion Syndrome Diagnosis came - the medical team was a little surprised because she didn’t have many 22q facial features, nor did she have low calcium. Unfortunately, Maryn’s heart did not like the initial repair and she needed another heart surgery at 28 days old. At this point things started looking better, although she was still having feeding issues and emesis. Maryn ended up choking on her emesis and coding again a few days before she was supposed to go home. This episode led to more testing and ultimately a G-tube. To everyone’s surprise, the G-tube was not the answer to getting Maryn out of the hospital and she ended up going into heart failure. After a roller coaster ride of a couple of months, filled with opinions from experts from across the country, Maryn ended up back in the Cardiac OR on her six month birthday. This time, her amazing medical team performed a very risky aortic and pulmonary valve replacement. We were told Maryn had a 5-10% survival rate, but a 0% rate if we did nothing. It was the scariest day of our lives. Miraculously (her surgeon’s word), Maryn not only survived the surgery, but was doing better than she had been her entire first 6 months of life!

After spending her first 218 days of life in the hospital, Maryn is now seven years old and THRIVING! 22q may have caused her truncus arteriosus, VSD, ASD, pulmonary stenosis, low immune system, low muscle tone, lax ligaments, swallowing difficulties, submucous cleft palate, velopharyngeal insufficiency, pyloric stenosis, a mild hearing loss, narrow ear canals, a smaller than average bladder, learning difficulties, speech difficulties, gross and fine motor delays, but it also makes Maryn the amazing child she is today. We were told that due to the number of times she was on bypass and her 22q, we should not expect her to be cognitively or physically on par with her peers and each milestone reached would be a blessing. Maryn is followed by a complex care pediatrician, genetics, cardiology, endocrinology, ophthalmology, ENT, gastroenterology, urology, immunology, dietary, and audiology specialties. She has received physical therapy, occupational therapy and speech therapy since she was an infant. Maryn has also been receiving music therapy for the past two years and absolutely loves it.
While 22q has added many challenges to our lives, we are also beyond grateful for it. Without 22q, there is a chance that Maryn wouldn’t be the brave, strong, hilarious, music loving, ukulele playing, influential (she can get adults to go along with her ideas better than anyone I know) kid that she is. Without Maryn’s 22q diagnosis, my husband and I wouldn’t have met so many incredible families facing similar struggles. Without Maryn’s 22q diagnosis, Maryn’s big brother might not be the kind, caring, sensitive, empathic kid he is. I truly believe that Maryn’s 22q diagnosis has made me, my husband and our son more compassionate, understanding people. Maryn has changed our perspective on the world - for the better.

As much as I would love to take away all of the challenges Maryn has faced and the ones she will face in the future, I am beyond grateful that she is exactly who she is, 22q and all.
It is my hope that Maryn and all kids fighting big battles can help to influence the change we need in this world. It is my hope that they (and we as their parents) can help spread kindness, compassion, empathy and joy. It is my hope that we can help spread awareness and increase research to be able to help make the lives of our children and others fighting big battles a little easier. This life isn’t always easy, but 22q families are tough and we have made it through everything that has been put in front of us so far - I’m confident that we can conquer any obstacle yet to come!