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DiGeorge syndrome - One Family's Journey

By Kamber Goff

On April 24, 2019, I saw a post on Facebook in a New Mexico foster parents support group. It read, “CYFD is currently looking for a foster family that is medically trained on how to care for a child on a ventilator. The child is an 11-month old female that was ready to discharge from hospital 2/2019 but unable to due to no placement for her medically fragile needs. If you feel you are capable and trained and willing to care for this sweet baby, please contact…”

My husband and I did not fit the bill. While we had been licensed foster parents for five months and were in the waiting period between placements after saying several goodbyes to other little ones; we had zero experience with medical complexities or ventilators. We didn’t even realize that “on a ventilator” also meant that this baby had a trach. I don’t know why I didn’t just keep on scrolling, but I felt pulled to her like a magnet. My hands started shaking. I contacted all three of the contacts on the post along with asking my husband (who is way more “sane” than I am) what he felt. To my surprise, my husband said yes to asking for more information, and I was talking with the baby’s caseworker on the phone within a couple of hours.

When she called me, I felt so many butterflies in my stomach. I tried to keep my voice steady and did my best to sound confident. I don’t remember the conversation verbatim, but the gist was that this baby girl had a long list of medical complexities and more than 12 specialists that she would need to see ongoing. The salient diagnosis was “DiGeorge syndrome”. While her condition(s) were complicated by a number of other factors, most stemmed from the tiny deletion of the genetic material that is found on a typical 22nd chromosome at the location q11.2. The official diagnosis is 22q11.2 Deletion syndrome. Like most people, I’d never heard of it in my life.

After hearing the list of diagnoses (which sounded like a bunch of latin gibberish to me at the time), the caseworker insisted that we meet this baby before making a decision. We set up a time to go meet her on the weekend before our flight left for our Disneyland vacation, and I got to work googling this syndrome.

Many different names popped up during my search. Velocardiofacial syndrome (VCFS). Conotruncal anomaly face syndrome (CTAF). But those only describe certain characteristics of the genetic condition: 22q11.2 Deletion syndrome. It’s the second most common chromosomal disorder after Down syndrome. If someone has the deletion, there’s a 50% chance that they will pass it down to each child, but most cases are de novo, which means it was not inherited from an affected parent.

The symptoms and their severities run the gamut. While some babies never make it past infancy because of the severity of their medical problems, others with DiGeorge don’t even know that they have the deletion until their baby is born with more severe issues and they’re checked by a geneticist. The reality is that there is just as much diversity among the population of people who have DiGeorge syndrome as there is in the “typical” population.

It was explained to me that most of the defects that do exist occur along the midline. Think brain, palate, heart, reproductive system and anatomy, etc. People with DiGeorge syndrome are more at risk for seizures, heart defects, hearing loss, infections (due to missing or immature thymus), difficulty feeding and gastrointestinal problems, microcephaly, delayed growth, difficulty breathing, poor muscle tone, delayed development, and learning disabilities. They’re also more likely to be on the Autism spectrum, develop behavioral problems, have intellectual disabilities, ADHD, and/or develop psychiatric issues like anxiety, depression, bipolar disorder, or schizophrenia. There are also certain facial and physical characteristics associated with DiGeorge syndrome. These include small, low-set ears, flattened nose bridge, wide-set eyes, smaller hands and feet, and short stature. I was feeling a little overwhelmed looking at list after list of potential problems beside her already diagnosed list of conditions.

I barely slept the night before we went to meet her. We stopped at a Krispy Kreme to get the nurses who’d been caring for her for months a little something to say thank you, but I felt like I’d be sick. Only one of us could go in at a time because the other had to stay with our three children. It was too risky to expose her to everybody at once, especially if we weren’t going to be her placement. I signed in to the floor desk and was given her room number. I didn’t know what to expect. I saw all of the nurses side-eying me and trying to size me up. They were rightfully protective of their floor VIP (Very Important Princess). My mind was racing. What would she look like? Would she be feeling well? Was she in pain? Was I a complete fool to think that I could provide for her needs?

As I stepped into the room, I immediately heard the loud machine blowing air into a mask around her trach (she was doing a trial off of her ventilator). A very smiley, pretty nurse greeted me, and I walked over to meet the baby I had buried behind the lists of words that made up her diagnoses. She was eating through her g-tube and had to be still because of her reflux, and I was afraid to even touch her for fear I’d get her sick. She looked at me with her great big brown eyes and tried to figure out who this new face was. She had wild, unruly hair, the palest white skin from being inside practically her whole life, and was wearing the softest pink llama pajamas. She couldn’t roll or sit up like a typical 11-month-old; she’d been too busy fighting for her life to learn those skills. She kept looking back to her nurse for reassurance that everything was ok.

The baby’s nurse raved about her. About how all of the nurses absolutely loved her. How the baby always reminded her of her own daughter who looked so similar and is close in age. How they’d looked into fostering her themselves but couldn’t because of an upcoming move. She told me that the baby really was smart and that she thought she’d pick up signing quickly if she was taught consistently. The nurse showed me how she was straining to try to sit up to get a better look at her surroundings. She said that she slept so well and was the happiest baby around. I told the nurse that she didn’t need to “sell” the baby to me, that I could see how adorable and precious she was. She insisted that she actually did need to. So many people were scared off by her diagnoses and she needed to be in a family. I didn’t realize at the time that the Facebook post was a last ditch effort before she’d be sent out of state to live in a nursing facility.

After asking a million questions and having a little time alone with the baby, I reluctantly switched out with my husband and took the kids to buy her a little pink llama unicorn stuffy from the gift shop to match her jammies. I wanted her to have a little something to snuggle from us until we could see her again, either just to visit or to begin training. We left the hospital and drove to a hotel near the airport so we’d be ready for our early-morning flight the next day. I asked my husband what he thought. He’s a man of few but intentional words. He said, “It’s a lot. A lot of equipment. A lot that we’ll have to learn. But really, she’s just a baby.” Just a baby. Yes, that was exactly it. Once you stripped away all of the “extra,” she was just a perfect, precious, innocent baby girl who we knew we were already starting to love. So I texted the caseworker. “We met her. We’re in.”

It’s now been a year and a half since we met our daughter. There have been countless appointments, meetings, therapies, court dates, ER visits, and a couple surgeries to boot. To this day, she’s still just our baby. She’s hilarious, sassy, determined, a bookworm, a social butterfly, an avid signer (her nurse was right), and has the most kissable cheeks and nose in the world.

DiGeorge syndrome is a big diagnosis. It very often comes with a boatload of uncertainty, complexities, and a whole lot of work. But my daughter is not her diagnoses. She is a person first. If you’re facing this diagnosis for the first time or trying to learn how to better love and support someone with this diagnosis, please remember that fact. Next, realize that there are so many families who would love to partner with you and support you in this journey. You’re not alone. The syndrome occurs in approximately 1 out of every 4,000 live births. It’s rare, but in a world full of connection through technology, there is so much support and information available today that didn’t exist a couple of decades ago. There are so many more opportunities for people with disabilities that didn’t exist a generation ago. My daughter, like so many others with DiGeorge syndrome, is going to battle health concerns and developmental disabilities her whole life. However, she shows me every day how much her life is worth the fight.

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