The Outstanding Olive Mae Marquez

Our Little Love, Our Big Joy

Guest Post

by Brianna Marquez, Mother of Olive Mae Marquez, diagnosed with Cockayne Syndrome

My name is Brianna Marquez and my family and I reside in Corona, California. At the end of 2018, my husband, Christian, and I reconnected from our days back in high school. Things progressed rather quickly: we were engaged in less than six months, and then he and my stepdaughter moved in with me. We received a surprise positive pregnancy test a month later, and the rest is history.

On August 21, 2020, my little love Olive Mae Marquez, my youngest child, was born: in the midst of a global pandemic, weighing in at 6 lbs and 19 inches long. When I tell you she came out screaming and is still doing so at 16 months old, that’s an understatement! She is such a character.

My pregnancy was normal, other than Olive being breeched. I even went to a chiropractor to try and flip her, to no avail. She decided how she was coming out into this world and that was that. At one of my regular checkups at 37 weeks pregnant, my obstetrician mentioned that my amniotic fluid was low and told me she was going to refer me to a specialist. Well my fluids turned out to be fine but the specialist was concerned that my sweet girl had IUGR (intrauterine growth restriction) and sent me immediately to the hospital for monitoring. I was NOT prepared, there was no way she was coming out that day, I thought. Well, her heart decelerated once, and her mama was admitted. The following day I was scheduled for a C-section to get my little nugget out.

That whole night at the hospital, I tossed and turned, watching my husband sleep, wondering who I was going to meet the next day and how I was going to be as a mother. I won’t lie, I was nervous, but also extremely excited. The following morning at 10:50 a.m., our little best friend, Olive Mae, was born. Everything was fine with her but she had a bit of jaundice, so she had to undergo phototherapy for a little over a day. Then we had her newborn hearing screening test: she passed her right ear but just missed her left ear. We were referred to Providence to repeat her newborn screening at a later time.

After a few days in the hospital, we were finally on our way home, together, as a family. The next couple of weeks went by in a sleepless blur, as is the case with all newborns, and we were then back at Providence for another hearing test. This time Olive failed both ears – I was distraught, what could be the reason? We don’t have hearing loss in the family. I put the bad thoughts aside and waited for her next more thorough hearing test. Olive did in fact have hearing loss in both of her ears, one mild, the other a little more moderate. She was fitted for hearing aids – and we waited. I knew something was different about my girl, I just didn’t know what. She loathed tummy time, she wouldn’t roll but I said in due time, not every baby is the same. Her pediatrician would mention how small she was, but I didn’t care, she was joyful. We went on with life with her hearing aids, she didn’t mind them. I thought this is it, I can handle hearing aids if she can.

Then one day in May 2021, I was dancing with Olive in our living room while my husband sang along, and the light flitted off her pupil and all I saw was – gray. I immediately froze, put her on the couch and turned the light on, and noticed that the gray had consumed her pupil. Earlier that month, I noticed one of her eyes was going lazy, but I thought I would bring it up at her 9-month well check later that month. But because of the gray, the following day we rushed her to the pediatrician, which started our journey to figure out what was going on with our daughter.

Her pediatrician thought it could be a mass in her brain causing the gray in her eye, so we were referred to the Children’s Hospital of Orange County to get an MRI done of her brain, eyes, and ears. I waited, hoping with all of my might, that everything was going to be okay, that there would be nothing bad.

We were also seen by an ophthalmologist who confirmed Olive was unable to see in her right eye as the result of a cataract, and the bad lens would have to be removed. Thankfully her left eye was not affected because the cataract was still small. Olive had cataract removal surgery in her right eye at the end of July 2021.

Finally, we had her our appointment with a neurologist at Kaiser, our new healthcare provider. The neurologist pulled up the images of Olive’s brain and I immediately noticed something was off. Olive’s brain did not look like a normal supple brain; she had brain atrophy. Her brain had shrunk, and there was liquid surrounding it. The normal hills and ridges one normally sees in an average brain was not Olive’s, her cranial lines were soft and hardly formed. I started sobbing, it was so unbearably hard. What was going on? Why my daughter? Her optic nerves were also not fully formed. The neurologist then said we had to go to the geneticist to determine the underlying cause. The doctor told me to keep an eye out for seizures and regression – no mother wants to hear that. This whole time I thought maybe she had a mitochondrial disease, or something curable.

We took Olive in to see her new geneticist who diagnosed her with hypotonia right when she saw her. Hypotonia is a condition that makes it hard for children to create muscle mass, and Olive still wasn’t crawling or walking. Among her other delays.

They drew her blood and her initial genetic test came back normal but they wanted to do a more in-depth test that involved collecting blood samples from my husband and me. We waited, and waited some more, and then we finally received the results. My husband and I were both at work – we work for the same company but at different locations. I went to the back as soon as I received the call from Kaiser and three-wayed my husband to join us on the phone. The woman on the other end, from the geneticist’s office, told us that they found out what’s going on with Olive, and that the test came back with results.

I said, “There’s no mitochondrial disease, right??”

“No, there wasn’t.”

My husband and I exclaimed in joy, relieved.

“But we did find something else...”

The air got quiet. Okay, what is it?

“Your daughter has a very rare genetic syndrome.” My heart started racing, my husband and I became deathly silent.

“Olive has Cockayne Syndrome Type 1.”

She began explaining what it is, what effects it will have on my child, and then she said life expectancy was around 10-20 years for her type, if that, and it varies from child to child. I lost it. My husband and I couldn’t handle it, it couldn’t be true. How? How is it even possible, Olive is supposed to outlive me!

We hung up, and rushed home to pick up our baby and we just sat there holding her, wishing there was some magical potion or cure that I could give her, that I myself could take the ailment from her - but I can’t, and I’ve accepted that. So we had her diagnosis – now what? We have continued with our life, obviously keeping a close eye on her but not acting any differently. Why should we? She doesn’t realize what’s going on, she’s ready to take on the day!

Olive had started physical, occupational and early intervention therapy to help her with her delays and we still do her weekly sessions. She hates it, truly, but I’ve seen such great progress with simple things like her using her pincers to grab food or signing “more” in sign language to me. She absolutely loves to walk, everywhere, anywhere, she’s there if you’re there and holding her hand. She does not let her disability get her down. She isn’t regressing, she’s PROGRESSING! She is so smart and capable.

We treat every day like a gift. Every day that she wakes up happy is enough for us. Olive is so resilient; she makes me stronger, if that’s believable. She is my beacon of light in this sometimes dark and unknown time.

We don’t act like there’s a looming timeline; we act like every day is a day closer to finding a cure. We live in a world where possibilities are endless, and I know we will beat this debilitating disease. One way or another. Olive knows it - and so does her family.

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To make an end-of-year donation to Riaan Research Initiative and help us beat Cockayne Syndrome for Olive and other children, please visit riaanresearch.org/donate.

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