Doctors Wouldn't Diagnose My Daughter, So I Had To
Words: Lia McPherson, As Told To Anthonia Akitunde
When doctors kept giving this mom symptoms and not answers, she began her quest to name her daughter’s illness.
Listen to Lia’s story here, or read it below.
Musician and dancer Lia McPherson and her boyfriend of nine years Jeremy Bautista had a familiar plan: get married, get their careers and their finances on the right track, and then they could think about having a baby.
“We were always in this mindset of ‘We're not ready,’” Lia explains.
Oh, and since she had a medical issue that affected her fertility, having a baby was the last thing on her mind when a trip to the doctor’s office revealed the unexpected: The nausea she’d been feeling wasn’t a side effect of her medicine, but a pregnancy symptom!
“I just broke out in a sweat, because we weren’t planning for this,” she says now, laughing. “But I was happy, too, because I was like, This is kind of a miracle.”
After “several talks,” Lia and Jeremy ultimately decided to move forward with the pregnancy. But at the 20-week anatomy scan, the expecting family soon learned doctors had detected a few abnormalities in their baby girl, Phoenix: She had a cleft lip and a heart defect.
But what did it mean? Would Phoenix be healthy once those issues were addressed via surgery, or did it mean she had a bigger health issue?
Doctors wouldn’t give Lia a clear answer. That appointment marked the beginning of Lia pushing for more information. It took several months after Phoenix was born for Lia to determine what her daughter actually had: CHARGE Syndrome, a disorder that can encompass a number of “malformations” in the eye, heart, nose, genitals, ears, and overall growth.
Here, in the first of a three-part story, Lia tells us about her difficult pregnancy and Phoenix's birth story.
I just had this weird feeling that something wasn’t right.
I was talking to all of my friends who had kids, I was talking to my sisters: "What can I do to feel better about this pregnancy? I feel like I'm worried way too much."
Some of them said, "It’s natural to worry. You’ll get over it once you start to see the ultrasounds. Once you see her more, you'll get over those jitters.” But it just never went away.
At the 20-week scan we had two appointments that day: One was with the OB to check her heartbeat and make sure she was growing well, and then the second appointment was the anatomy scan.
The first appointment with the OB was great. Her heartbeat was great. The OB said, "Now it’s time for you to start looking for cribs."
We were all on this high, and then we went to the ultrasound. When she was doing the scan, I saw that Phoenix’s lip was a cleft. In my mind, I was like, Sometimes it looks like they're missing an arm… maybe it's one of those things. But part of me knew it wasn't.
She left the room, and it seemed like an eternity that we were sitting there. Then she came back, and said, "Ok, we saw several issues."
And I was like, Damn.
‘It Felt Like The Twilight Zone…’
The doctor was pleasant.
"We see that she has a cleft lip, we don’t know if a [cleft] palate is involved,” she said. “We see that she has something called tetralogy of fallot [a rare heart condition]. And she’s also small for her age. If it was just one or the other, we wouldn’t be concerned because these things can be fixed and repaired. But the fact that it’s multiple things means that it could be something more."
I was frustrated. All the doctors kept saying “It could be other things,” and to me, things are like a pencil or a television. There was never anything concrete— “It could be maybe this syndrome or that"—to paint a real picture for us.
So I said, "Ok, so what do we do?" It was never in my mind to have an abortion.
She said, "Well, typically people get an amniocentesis just to cover all bases to confirm that it's not a bigger disorder that’s fatal."
We talked to a genetic counselor and she was just the bleakest person in the world.
"This will be at least two surgeries, and I'll just let you know that even if you go to the cardiologist, he’s very optimistic. He may not be the best person to help you in this situation."
We were like, Well, what's wrong with optimism? It just felt like The Twilight Zone.
The high-risk doctor I saw every week was pleasant, but he always kept saying, "Well, what are you guys going to do? What is your decision? What are you going to do, what are you going to do?"
I told the genetic counselor, "I’m not armed with enough information to make a decision. When you see these types of things—cleft lip and heart defects—what is that indicative of? Is there any sort of syndrome that you've seen that encompasses the two?"
It’s not enough for you to say, “A lot of parents don't want their kids to have surgeries" or "You have to think about her quality of life.” I needed to hear something like, “In my experience, this looks similar to this or that syndrome.”
She said, “I often see this with DiGeorge syndrome kids."
It wasn’t until later that I learned that a lot of syndromes have these two things and we could’ve been pointed to have FISH tests done for other syndromes. But the only one we got was DiGeorge because I pushed the genetic counselor for more information. We also got the amniocentesis, which is an umbrella for thousands of syndromes. Both of them came back negative—nothing, no other syndromes.
Up until 32 weeks, New York State allows you to terminate. We didn’t get the genetic results back until the 25th hour. We went in that day and we knew that we could be making that decision.
I told Jeremy, “I did look up DiGeorge. They said 90-some-odd-percent of DiGeorge children develop schizophrenia and things like that. That bothers me. It's not the lip, it's not the heart, it's not the surgery that bothers me. I don’t want Phoenix to suffer in that way."
[Editor’s Note: According to a 2015 study, “between 25 and 30 percent [of people with DiGeorge syndrome] are diagnosed with a psychotic disorder.”]
We ultimately decided we wouldn’t move forward if she had DiGeorge.
We go in there and we thought at that point she didn't have anything else. Instead of saying, "These are the results," the first thing the doctor said was, "What is your decision?" And we're like, "We don't have any test results to make a decision."
So they’re looking all crazy, and scramble to find the test results.
“"Oh, well, congratulations,” he says, “we don’t see anything else."
That's when we decided, we're in for the long haul, we're dedicated to this journey. Let’s make a conscious decision right now to just be happy.
‘Fine Line Between Joy And Pain’
I started to follow a cleft mom group on Facebook, trying to arm myself with information, and I became a part of the tetrology group. We had meetings at NYU with the cardiologist and the cleft team.
The more we started to learn about these issues, the more I started to get a bit worried. Not fearful, but worried about the pain she would have to endure.
The pregnancy—just from the first trimester to that 20 week scan—was nightmarish. But from 20 weeks to 38 weeks when I had her, Jeremy and I became stronger in our relationship and it was just a better feeling.
Then things kind of turned upside down when she was born. From day one, it’s just been walking this fine line of extreme joy to extreme pain.
The minute she was born and I heard her cry, I was just so happy and so relieved that she had made it and she was here. She was in NICU for eight days.
Babies whose oxygen levels aren't great are called “blue babies,” and they need heart surgery right away. Phoenix’s cardiologist assumed through all of the scans and prenatals that she wouldn’t need her first heart surgery until around four months old.
Well, that wasn’t the case. She wasn’t blue, but her oxygen levels were dipping into the 60s and sometimes the 40s—healthy is like 99. She was dipping. They knew it wouldn’t be 100%, but they weren’t expecting them to be dipping so low. That was my first indicator that, Hmmm, something is not adding up.
When she was born, we had all these special bottles that the cleft team gave us for her to adapt to drinking milk. Even though kids who are born with clefts may have this learning curve for drinking, they can drink perfectly fine just as long as they have the proper nipple and the proper bottle.
But she was having issues drinking. I was like, "This is not what the cleft team explained to me!" Finally she adapted to this bottle called the Pigeon, but she wasn’t drinking the full feeds like she was supposed to.
They were saying "It's probably her heart. She has to work 10 times harder because her heart is not functioning at full capacity."
I was piecing the puzzle pieces together and was like, Hmmm, there's something missing.
After being in the NICU for eight days, her cardiologist was like, "Nah, she has to have a heart surgery right away. It can't wait. Her oxygen-saturation levels are just dipping too low."
Eight days later we were rushed to NYU. We already had a heart surgeon on deck, but that was the heart surgeon who was supposed to be operating on a four month old. They scheduled her for the surgery three days later. She went in, and we were just a mess. We. Were. A mess.
I had her via C-section, so I could barely walk. I just had major surgery, I’m a mess just physically, and then having my daughter—who is 11 days old and only 4 lbs 11 oz at the time —go into open-heart surgery was just like... It just broke us down.
She did really well from the heart surgery. I was expecting a long stay at NYU, but we were there for 22 days total. We were there every day. We did not let an hour go by without somebody being there. We saw how hard it was to thrive for the other babies who were either left alone or didn’t have people visiting them.
Plus we were just kind of not trusting of everybody. Some nurses just would not be communicating with each other. Sometimes things would be missed. We were just like, "Somebody has to be there in case they need some sort of information from us." And we just didn’t want her to feel alone.
Newborns have to get a hearing screening before they leave the hospital, and they have to get a vision screening. We didn't get a vision screening, but we got this hearing screening and she failed the hearing test.
It’s not something that’s abnormal because a lot of babies—typical or not—have fluid in their ears, or they may be disoriented a bit because they’re used to hearing beeping all the time, especially if they’re NICU kids.
We were told to expect a failed test because it's easier for her to get fluid in the ear because of the cleft. Our cleft team said, “She'll get some ear tubes and it'll be all good."
But something again told me, I don’t know... something’s missing.