The Lefler Family
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Zoey was born February 22, 2014 at The Children’s Hospital of Philadelphia with DiGeorge Syndrome and multiple heart defects, Interrupted Aortic Arch Type B, Large VSD, Aberrant Subclavian Artery and discontinuous Pulmonary Arteries.
The day had finally come, we were about to find out if we were having another boy or a girl at our Anatomy scan at the Naval Medical Center in Portsmouth, VA. During the ultrasound we were told we were having a girl, we were thrilled about the news! But then the ultrasound Technician informed us that she needed to speak to the doctor. Minutes later the doctor comes in and informed us that our baby girl’s heart didn’t look right. He then recommended we see a Pediatric Cardiologist to do further testing. A few weeks later we met with the Pediatric Cardiologist. After she did an ultrasound of Zoey’s heart she confirmed their suspicion, Zoey’s heart was not normal. The cardiologist told us she suspected Zoey had DiGeorge Syndrome and recommended I have an Amniocentesis done. We agreed to get the amniocentesis done. A few weeks later we received a phone call with the test results, it confirmed that Zoey did have DiGeorge Syndrome. Once again, we meet with the Pediatric Cardiologist. She recommended we get an evaluation done at The Children’s Hospital of Philadelphia due to Zoey’s heart defect.
We made the drive from Virginia to Pennsylvania for our first appointment at The Children’s Hospital of Philadelphia. The team informed us that due to Zoey’s heart defects they would recommend we have prenatal/ultrasound visits every few weeks to monitor Zoey’s heart. As my due date got closer, the team told us that they want me to relocate closer to CHOP due to Zoey’s heart defects and due to my oldest son being born 3 weeks early. On February 22, 2014 I went in for my last prenatal visit. I was scheduled to be induced on February 25, 2014. During the visit the doctor informed me that I was in labor. I then called my husband who was stationed in Virginia and told him he needed to get down to Pennsylvania as soon as possible. Finally, our baby girl was born! A few minutes later the team took her to examine her and then took her to get an Echocardiogram (ultrasound of the heart). Three days later Zoey had her first major open heart surgery. Surgery was a success. The doctors noticed Zoey’s bottle feeding was not normal. A speech therapist came in to evaluate her and it was determined that Zoey was aspirating. A Nasal Feeding tube was then placed. A month later she was able to go home.
Zoey continued to have feeding difficulties. Months later I noticed Zoey’s breathing didn’t sound normal. It sounded like a “wet breathing.” Doctors kept telling us that it was normal due to her anatomy. One day while crying Zoey started to turn purple. I notified Zoey’s ENT specialist what was going on. ENT performed a bronchoscope to look at Zoey’s airway. ENT informed us that Zoey had Severe Tracheomalacia, her airway was narrow and floppy. The next day she once again started turning purple, I immediately took her to the ER. The next day A CT scan of Zoey’s airway was performed. They found out that Zoey’s airway was being compressed by the Subclavian Artery and she needed surgery right away. The Children’s Hospital of Kings Daughter in Virginia was not able to perform this surgery on Zoey due to her heart anatomy. They recommended CHOP do the surgery. At 6 months old Zoey had yet another heart surgery to relocate the subclavian artery. The day after surgery Zoey had a cardiac arrest and was intubated again. Several attempts were made to get the breathing tube out but Zoey kept having difficulties breathing on her own. The team said they would try one more time and if Zoey failed again they would recommend a tracheostomy. Thankfully Zoey did fine, a few days later we transferred back to The Children’s Hospital of Kings Daugher. A few days later Zoey had to be intubated yet again. It was then we were told she needed a Tracheostomy. Surgery was done and we immediately noticed how comfortable she was breathing. Everything was going good up until Zoey was having difficulties tolerating anything in her stomach and major pain and withdrawal symptoms. The team placed a PICC Line and Zoey was started on TPN for nutrition. This went on and on for month with Zoey just getting worse. I finally told the team at the hospital in Virginia that I wanted Zoey transferred back to CHOP to see if they could help her since they couldn’t. A few weeks later we were back in Pennsylvania. I then told my husband we needed to move to Pennsylvania to be closer to CHOP because they understood Zoey’s needs better. At that time my husband was no longer in the military. I ended up coming with Zoey to CHOP and since we had no family near by our oldest child was sent to stay with our family back in California for 3 months. My husband was able to get a job out here in Pennsylvania. While Zoey inpatient at CHOP we made the move from Virginia to Pennsylvania with the help of my in laws.
Within a month of being back at CHOP Zoey had made huge progress! I knew then I made the right decision. Due to Zoey’s feeding issues a GJ feeding tube (feeds into the small intestine) was recommended. Exactly 1 year later from when I took her to the ER back in Virginia Zoey came home with a Tracheostomy, ventilator and a GJ tube. By this time Zoey was around 18 months old. Zoey soon started getting Physical Therapy, Occupational Therapy and Speech therapy at home since she was globally developmentally delayed.
2 Years Old:
A year later we had noticed some odd behaviors in Zoey. We then consulted with a neurologist who then determined Zoey was having seizures. An MRI was done and it showed there was scar tissue on her brain from the cardiac arrest she had as a baby. This scar tissue was causing Zoey to have Complex partial focal seizures. Till this day Zoey still has seizures. Shortly before her 3rd birthday Zoey was able to come off the ventilator completely!
3 Years Old:
Zoey began crawling at 3 years old. She was also able to wean off the GJ feeding tube onto a G tube (feeds into the stomach). She was also able to switch from formula to a blended diet of real food through her feeding tube.
4 Years Old:
Shortly after her 4th birthday Zoey started to walk! This was very exciting for us. We also noticed Zoey was getting sick a lot and multiple infections. We saw an immunologist who then did blood work and it showed Zoey’s body wasn’t making enough antibodies. Zoey now gets weekly SubQ infusions at home to help keep her Immunoglobulin levels within normal limits.
Fast forward to the year 2019. Zoey has had a busy year to say the least. She underwent airway reconstructive surgery in order to be able to remove the tracheostomy. Had her cleft palate repaired and multiple bronchoscopes of her airway to make sure the airway surgery worked. She also started Kindergarten in August at a special needs school near our town. She loves Elmo’s World, playing Peek-a-boo, Mickey Mouse Club House, going for walks and chasing our cat around the house. Till this day Zoey is still non-verbal, feeding tube dependent and tracheostomy dependent. Although, the tracheostomy may be coming out soon! She is a very strong-willed and determined 5 year old who doesn’t take no for an answer.
What we’ve learned so far from this 22Q journey is to take one day at a time and most importantly ADVOCATE for your child. You as the parent know your child the best. Everyone’s journey and experience with 22Q is different. Also, joining 22Q groups on Facebook has helped us a lot. It lets us know we aren’t alone in this journey.
On a side note, Zoey's father Steven Lefler, does iRacing (computer based online racing simulation) and he is doing his part to help spread awareness. He has personalized the cars that he races with a custom paint scheme that includes The 22q Family Foundation colors and logo. The paint schemes will be seen by drivers throughout the world as it is used worldwide. Some of the races on the simulator are broadcasted on YouTube.