Emerson's Story

Q. What condition was your child born with?

Emerson was born with what is called the most common rare genetic syndrome: 22q11.2 deletion syndrome (DiGeorge). This syndrome can impact virtually every system of the body. Some of his medical challenges include Tetrology of Fallot (congenital heart defect), bilateral hearing loss, bilateral clubbed feet, growth hormone deficiency and several other diagnoses.

Q. What were the biggest challenges that come with this diagnosis?

One of the biggest challenges of his diagnosis is that the cause of all of his complications come from a syndrome that so many people have never heard of. 22q11.2 deletion syndrome is the second most common (after DS) genetic syndrome but most people have never heard of it. People look at him and see a little boy and expect him to be healthy and typically developing; which isn’t the case. Another big challenge for us was in learning how to become first time parents alongside learning how to be his social worker, nurse, pharmacist, medical repair specialist, diagnosis specialist and all the other roles that come along with a medically complex child.

Q. How has this impacted you and your child's day-to-day life?

Emerson has 20 doctors/ specialists and 3 therapists. There’s almost always some kind of appointment and he spends hours every day working on his therapy goals with mom and dad. Emerson also requires a handful of daily cares such as caring for his g tube as well as nightly growth hormone injections. Because he requires a higher level of care, our family has to remain conscientious about planning our day and any outings we might attend.

Q. What do you wish others would know about your child's medical condition?

I really want to normalize medical tools and get people to not be so uncomfortable or apprehensive with them. I would love for people to not look at medical children and feel sad, but to see how strong and brave these kids are. I would also love for people to understand that just because some kids look healthy, there can be way more layers and “invisible” illnesses.

Q. In what ways has your child inspired you and others?

Everyday that Emerson is alive he impresses me. He has overcome so much that it’s hard for me to not get overwhelmed when thinking about everything he’s gone through and how far he’s come. When I was pregnant there was a point where doctors didn’t know if he would be compatible with life. Emerson had open heart surgery at 5 months old, underwent 8 weeks of serial casting to correct clubbed feet, has had 6 surgeries and numerous other procedures, receives nightly injections of growth hormone, has been in speech and physical therapy since a month old and spent months of his life inpatient. He has worked unbelievably hard to meet each and every inchstone and milestone all while remaining the happiest little boy possible.

Tell us a little about your child:

 Emerson is simply the sweetest little snuggle bug you could ever hope to meet. He loves to love and loves to explore the world. Some of his favorite things are going to the zoo, swimming, swinging at the park, reading books and playing with his babydoll (who he calls “mama”).