‘We don’t know what’s going on.’ Fear took over my body. ‘But I barely know him yet!’ No one could pinpoint what it was.’: Woman births baby with genetic mutation, ‘He was the purest soul’

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“To talk about my son, Quinlan, is to talk about the purest soul I’ve ever known. He was a child like no other and would light up any room he was in. His life was short but he taught so many of us more than anyone else could, without ever speaking a word.

Quinlan was born in August 2014 after a pretty simple pregnancy. Nothing was out of the ordinary until moments after he was born when doctors noticed his muscle tone was very tight. In fact, we never got an accurate birth length because his legs never fully stretched out.

Courtesy of Lindsay Weekes
Courtesy of Lindsay Weekes

The next day, doctors came into our room to tell us they would be transferring him to a larger hospital in the city for an MRI. We cried, Googled (when we knew we shouldn’t have), and said good-bye to our baby as he made his way in an ambulance. We followed shortly behind, my brother driving because neither my husband nor I could stop crying enough to focus. I remember getting to the hospital and thinking, ‘I barely know him and he’s already been taken away from me,’ while fear took over my entire body.

Courtesy of Lindsay Weekes

Three days later, we were discharged from the NICU and told nothing was wrong and he would need some therapies to stretch him out. This was the greatest relief at the time. An amazing team of Early Intervention therapists was assigned to come to our house once a week to stretch him. We continued to notice little things, like he had a smaller than average head size, he wasn’t gaining weight as fast as an average newborn would, and he wasn’t tracking objects. All things that weren’t alarming, but something to keep an eye on.

Fast forward four months, New Year’s Eve going into 2015, we noticed his lips turning blue. We immediately rushed him to the local emergency department where it was determined the best course of action would be to transfer him to Boston Children’s Hospital to figure out what was going on. Within 24 hours, our son was diagnosed with having seizures. Our four-month-old son was having seizures. This was not how we ever imagined welcoming in the New Year.

Courtesy of Lindsay Weekes

We ended up staying in the hospital for 28 days. He was put on three different seizure medications, sometimes needing oxygen, gaining a feeding tube, and after many tests, a diagnosis of ‘we’re not sure what is going on but he will probably never walk and talk’ was given to us. Our world turned into a whirlwind.

After coming home, we were getting used to our new ‘normal’ of learning how to feed our child through a feeding tube and monitoring for any additional seizure activity. That was not Quinlan’s plan. Sixteen days later, Quinlan was back in the hospital with RSV, a respiratory virus that can be very dangerous for little kids. The ICU quickly became our home away from home. What we thought would be a few days, or maybe a couple of weeks, ended up being a nine-month hospital stay that changed our lives. Because of the RSV, Quinlan’s seizure activity started acting up and additional seizure medications were added. More tests were done to see if we could get to the bottom of his seizures, microcephaly, developmental delays, respiratory issues that included his oxygen quickly dipping to unsafe levels, and a new symptom of uncontrollable body temperature. There was something going on and no one could pinpoint what it was. It was decided, at nine months old, the safest route was to do a tracheostomy to give him extra breathing support through a ventilator for those unsafe drops in oxygen levels he was having sporadically.

Courtesy of Lindsay Weekes

Within nine months, our lives went from bringing home our newborn, who needed a bit of extra stretching for his tense muscles, to having a child with seizures, on a feeding tube, and a ventilator with no diagnosis. To say we were scared is an understatement. My husband and I tried taking on the role of doctor to figure out what was going on with our son, throwing out questions and suggestions to get any answers we could, but answers that no one had.

For the next seven and a half months, Quinlan was going between Boston Children’s Hospital when he needed a bit more medical attention, and Franciscan Children’s Hospital, where we were learning all the necessary medical knowledge in hopes of bringing Quinlan home sooner than later.

Courtesy of Lindsay Weekes

In October 2015, the answer we were looking for came. Whole-genome sequencing was done to determine if there was indeed something genetic going on. They took DNA from myself and my husband to match against Quinlan’s. Sure enough, something was found. It was a mutation of the BRAT1 gene, a genetic mutation that correlated to each of these symptoms Quinlan was experiencing. Unknown to us at the time, my husband and I are each a carrier of this gene mutation, which was then passed down to Quinlan. We soon found out each of our children would have a 25% chance of having this BRAT1 mutation. Quinlan was in that 25%.

Courtesy of Lindsay Weekes

Now, having the answer we had been looking for, unfortunately, came no changes. This genetic mutation was so rare, it is believed Quinlan was one of the first ten children ever diagnosed, ever. The longest a child had lived with the severity of the symptoms Quinlan had at that time was one year old. Quinlan was then one year and two months old. He was now the oldest known living person with this disease at the severity he had. All we had now was hope. Hope he would continue to beat the very small odds. Hope more research would come out about this new ending. Hope we could continue to fight this for a very long time.

Courtesy of Lindsay Weekes
Courtesy of Lindsay Weekes

A month after his diagnosis, we were finally able to bring him home. We were trained in all of the medical equipment Quinlan now relied on, the times and doses for each of his medications, and any emergency steps we would need to take should something happen. Our living room turned into a mini ICU, complete with his bed, ventilator, oxygen, feeding pump, and nurses coming in and out of our house every day. Our kitchen turned into a mini pharmacy with all of his seizure medications, vitamins, gas medications, nebulizer treatments, and special formula for his feeding pump. Medications were given around the clock. He needed eyes on him 24 hours a day in case he had a seizure or a respiratory issue. It was a lot, but we wanted nothing else than to have him home.

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Family and friends were constant visitors. My sister even moved in with us to help take care of him and love him like he was her own. Nurses who took care of him at the hospitals became like family and would come to visit and get a dose of Quinlan. The support and love were endless.

Early in the morning on January 30, 2017, when Quinlan was 2 years, 5 months, and 1 day old, our lives changed. The overnight nurse yelled for us frantically to call 911 as Quinlan had turned blue and had stopped breathing. I was screaming his name over and over with no reaction. The EMT’s came and rushed him to the hospital. We got to the hospital and the words no parents should ever hear were being told to us by the doctor. ‘I’m sorry, we couldn’t save him.’ He was gone.

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The days were filled with family and friends coming to comfort us and cry with us. My days were filled with complete shock. We decided to hold a Celebration of Life service for Quinlan. Hundreds of people came to celebrate him, wearing bright colors to show the light that he gave to everyone. Everyone from friends and family, to doctors and nurses, work colleagues, and friends of friends came with such touching sympathies and kind words. It was beautiful.

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Months after Quinlan’s passing, my husband and I knew we wanted to bring Quinlan’s sibling into the world so we started the process we decided would bring us the most peace. We began the IVF process with PGD and PGS testing. These two tests would confirm whether or not the embryo’s we created would have any chromosome abnormalities and/or the same BRAT1 mutation Quinlan had. While we understand this is not the road some people would take, we knew this would at least give us some peace of mind bringing another little one into this world.

Courtesy of Lindsay Weekes

After one round of IVF with genetic testing, we had one healthy embryo to transfer. That one healthy embryo is now our almost-two-year-old son, August, named after the month his big brother was brought into the world. We feel so incredibly lucky the process worked on the first try and we now have Quinlan’s little brother to share with the world and to share Quinlan with.

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It breaks my heart to know the two will never get to wake up together on Christmas morning or play catch in the backyard. And we will never have a picture of my two boys together. But there is such a connection between my two sons no one could ever take away. They look like they could have been twins, with the same gorgeous brown eyes and head of amazing curly brown hair. I see a part of Quinlan when I look at August and it’s a comfort I never thought I’d have.

A piece of our family will always be missing. To be able to share Quinlan’s story and just how special he was is something I live to do.”

Crabapple Photography

This story was submitted to Love What Matters by Lindsay Weekes. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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