These are a few of the faces leading the way in the new world of BRAT1-related disorders. They are the pioneers for this Ultra-rare disease.

Antony was born on November 09th, 2021, at 39 weeks via C- section after a very healthy pregnancy. All my exams and scan were normal, and we didn’t expect that we were going through the worst moment in our lives which was losing our love, Antony. 

When he was born he didn’t cry and I knew at that moment that he will never go home with us. 

In the last 2 weeks of my pregnancy, I felt some extra movements, he was moving much more than normal but he was moving so I thought that I shouldn't worry about it. 

Since he was born he started seizing and also he was very stiff, he went straight to the NICU. After two days in the hospital where he was born, he has transferred to the NICU of a children's hospital, and then the doctors started with every exam that we can imagine and there was no answer why he was non-stop seizing. 

The doctors tried every single medication to stop his seizures and nothing worked, he was sedated so he stops his jerking movements for a while but the eletrocefalogram was showing that his seizures never stopped. 

After one month at the NICU, we receive his whole exome sequence, it was a very detailed genetic exam, so it was confirmed that our loved boy had two copies of a gene that calls BRAT-1 and there was no cure and no treatment. 

Even though I feel that I will never bring him home I was so devastated, I was questioning, why my son? Why my family? He was the most wanted boy in this world, he was my life and I was going to lose him. I was out of the world the entire time. 

While Antony was here, we gave him so much love. We spend 60 days at the Nicu with him and his last brief was in my arms, We will never forget him. He will be our love forever. 

- Luanna, Antony’s mom

Our first daughter Caitlyn Rose Ward was born on the 27th January 2014 and she was perfect in every way. The pregnancy and birth was uncomplicated, other than respiratory issues when she was born which the nurse had said was normal due to the morphine they had given me to manage labour pains. She had her first seizure within a few hours, and as the days went by they became more frequent. All her tests were normal, so we were still hopeful that the seizures would settle down and we would take her home. She spent her short time on earth in hospital, so were grateful that we could take her outside to the garden where she felt the wind on her face a few raindrops on her cheeks. Our little girl passed away at only 31 days old. 

Our second daughter Cailee Grace Ward was born on the 11th May 2016. Just like my previous pregnancy, it was uncomplicated and uneventful but we went into it with caution. Our biggest fear became reality when I held her in my arms and noticed her left foot was twitching, and she was rushed straight to the Children's Hospital. She presented with the same physical features as Caitlyn, which we now know were consistent with the Brat 1 gene. As the weeks went by, her developmental delays became more apparent. We tried whatever medication was available to help with her seizures. These medications would only suppress them for a short period before they came back, eventually we stopped counting her seizures after she was having at least 50-100 a day, all we could do was hold her and make feel safe and loved. She fought bravely until she gained her angel wings at 8 and a half months old. 

Over a year after we lost Cailee, we finally received answers and found that my husband and I were carriers of the Brat 1 gene mutation. As the mutation is rare, it was never included in the epilepsy panel at the hospital at the time but with more cases being found, it has now been included which I hope will allow better treatments for the children, assist in future family planning and closure. Through the help of IVF and genetic testing, and after years of loss, we now have our healthy, very active 4 year old son, Rylan. 

- Donna, Caitlyn & Cailee’s mom

Chloe was born 3/10/21 at 3:32p, 6 weeks ahead of her due date. At first they thought she just had premie lungs so her initial days in the NICU were focused on assisting her breathing so she could eventually breathe on her own. We thought she seemed "stiff" at birth, but the dr just thought it was the startle reflex that babies are born with. Days later the same dr thought we needed to have genetic testing performed. Her breathing wasn't improving and was requiring more support. As we waited for the test results, Chloe started to have seizures. We started her on medication, but the seizures continued to increase in frequency and severity. When she was 6 weeks old we received the genetic test results and received her diagnosis of BRAT1/RMFSL. Her symptoms were considered severe due to their onset at birth and the available research papers indicated she wouldn't survive more than a year, likely only a few more months.

We brought Chloe home from the hospital in hospice care on 5/6/21 (our wedding anniversary) so she could meet her big sister and see sunshine. We took her for walks and tried to make her last days filled with love. Family and friends got to meet her, hold her, and love on her. She went to heaven on 5/16 at 3:18a. We miss our sweet Chloe everyday.  

- Jamie, Chloe’s mom

My sweet little big girl. Erin Alexandra Porter Mortier. Mi niña, mi cachibachita, mi amor bonito.

She was for me, just as probably any other special needs parent could say, the strongest and most patient child I could ever dream to share a life with. And yes, we shared a life for almost three years. For two years, eleven months, and fourteen days Erin and I were inseparable, except when a surgery or an MRI needed to keep us apart. We shared hugs, we shared tears, songs, movies, therapies, long nights, long baths, trach care hours, walks around the neighborhood and near the beach, Christmases, Halloweens, and birthdays; and I long for each of them as they were not enough and I would give anything today to share one more moment with her.

I hate having to write about her life in the past, but that is what most parents of children with a BRAT1 gene mutation face every day. Undiagnosed most of the time, these babies have passed away because there is no cure for their condition; mainly because there is not enough research. BRAT1 gene mutation is as rare as they come, and then again not rare enough since in the last five years I have connected with many parents sharing a very similar experience.

As I have been trying to tell you about my baby girl, I have ended up in a rabbit hole of research documents about BRAT1 mutation, epilepsy, developmental delays, and any other medical terms of similar severity you can imagine. The truth is Erin was more than the sum of all of them. She was an amazing baby that came to this world fighting even before she was supposed to. Since day one she needed to be poked and probed more than a usual newborn, and after that she and I would have a six-month residency in the NICU of one of the most recognized children’s hospitals in the US.

She was born by c-section at thirty-seven weeks and she was little. It was the time of Zika, and everyone was scared of it, so believe me when I say that every doctor who saw her in the first twenty-four hours considered that she too was a Zika baby: microcephaly, clubfoot, rigidity, tremors, and parents that would travel for a living to all of the unwanted tropical destinations at the time. But instead, she had a gene mutation in the BRAT1 gene created by two recessive genes that her dad and I carry and passed onto her.

This was all explained to us when we received a diagnosis. She was a month and a half old and got accepted as the first neonatal patient in a clinical trial for a rapid whole genome test after endless weeks of probing that could not explain what she was going through.

A part of me wants to say we were lucky, we were privileged, we were blessed to know what we were facing; and then again, a side of me remembers the pain, the immediate and surmounting grief when told that a cruel condition would take her away from us sooner than later. I remember asking the doctors for information, for guidance about this monster that was coming for our daughter, and seeing their faces covered in defeat as they would tell us they did not have more information than what a Google search could give.

From that moment on, her dad and I decided that Erin would guide us and that we would do anything we could to find treatments and therapies that could offer her the best life possible. Her doctors were treating symptoms, so it was up to us to look for alternatives and to bring any ideas to them that could potentially give her a better chance. We tried many, and probably not enough. Time was against us and her condition progressed very rapidly after her second birthday, mostly because a pandemic surprised us, and we were forced to live in a tight bubble where routine appointments and specialists were now sporadic or through virtual channels.

Erin lived almost three years with a rare disease called Rigidity and Multifocal Seizures Lethal Neonatal (RMFSL). A disease that is not yet part of the NORD (National Organization of Rare Diseases) database. A condition that hopefully one day soon we will learn more about and how to not just treat it, but prevent it as well. 

- Mariana, Erin's mom

Quinlan was born in August 2014. The pregnancy was routine, nothing seemed out of the ordinary except some low fluid for the last couple weeks of pregnancy (something we now know could have been related to his diagnosis), but nothing to be alarmed about at the time. Within minutes of him being born the doctors noticed he was very tense, unable to stretch his arms and legs very far, and had microcephaly (a smaller than average head size). After an MRI at 24 hours old, nothing seemed out of the ordinary and we were sent home with therapists scheduled to come to the house to work on his muscle tone every week. Little by little we noticed milestones not being hit, and different symptoms popping up (no tracking, taking long to eat, not gaining much weight, etc). Four months later we were rushing Quinlan to the emergency room because he had turned blue. After doctors could not figure out what else it could be, they did an EEG to test for seizures and sure enough he was having hundreds of them.  This lead to a prolonged hospital stay with no reason as to why he was now having respiratory issues, on top of seizure activity, developmental delays, with tense muscle tone, and microcephaly. 

Multiple genetics test were done and nothing came back concerning, although everyone knew something was different with our sweet boy.

At 14 months old, a whole genome sequencing was done, testing my husband as well as myself, and that came back with the answer we were looking for. Quinlan had a mutation of the Brat1 gene (some also call it RMFSL or a Brat1-related disorder). At that time, Quinlan was the oldest living with that severity, and the 7th ever known to be diagnosed. We received the answer we were looking for, however, it changed nothing. We would continue to treat his symptoms and love him every minute of every day. 

Quinlan was leading the way and we were there to follow.

After just about 300 days in the hospital, Quinlan came home. Our house turned into a mini ICU with meds, a feeding tube, ventilator, and oxygen, along with nurses coming daily to help take care of our sweet boy.

Quinlan passed away at home on January 30, 2017 at 2 years, 5 months and 1 day old. 

While there has been some advancements in the diagnosis of children with the Brat1-related disorder, there is still a long way to go for this, and many other rare diseases. 

- Lindsay, Quinlan's mom

Our beautiful and perfect Summer James was born on February 23rd, 2023. She was born at 38 weeks. She came out quiet. Not a peep. But all her vitals were perfect. She did skin to skin contact for 90 mins with me. It was pure bliss. Due to her weight (4lbs 7oz) she had to take a trip to the NICU for observation. It quickly turned into a beautiful nightmare that would last 41 days. 
From the get go we noticed Summer’s joints were very stiff, almost like she was still in utero. But with PT we assumed that would be a hurdle we could overcome. On her 3rd day of life, while in the NICU at Christiana, she had her first seizure. Immediately she was started on seizure mediciation. It didn’t work. So she was started on another and it worked, but only temporarily. It was a constant battle of medicines and sedation to keep the seizures at bay. 
She was having difficulty with eating due to her unknown diagnosis at the time, so we made the decision to transfer to Nemours Children’s hospital for G-tube insertion surgery. On the day of her transfer she had a cluster of multiple seizures. She was given a sedating dose of medications to safely get her to Nemours. At that point, our new goal was to figure out why she was having the seizures. It was clear from the beginning that there was something neurologically challenging with Summer causing a series of issues. Stiff joints, difficulty eating, not able to cry, multiple types of seizures & other oddities. The wonderful Neurology team got a plan together for the seizures and the Genetics Specialist ran blood work on Summer, Doug & myself to figure out what genetically was causing Summer all these cruel ailments. 
While we waited, Summer continued to grow like a weed! Gaining weight, growing out of clothes and overflowing our hearts with so much love. 
Her seizures also got worse and more frequent. Medicine wasn’t helping. The only way to describe it was torture. Torture for Summer and her little body and torturous as a parent to see your perfect baby suffer. 
On Thursday, March 30th we received the diagnosis that would forever change our lives, Summer suffered from a genetic disorder, Brat1. The average life span with this horrible disease is from 4-5 months up to a year, depending on severity. Due to Summer’s symptoms, we were told she was on the severe end of the spectrum and we didn’t have much time. The seizures were going to continue to get worse and medicine would not be able to stop them. 
What made this blow even more difficult was finding out that my husband, Doug, was not a carrier of the Brat1 gene. Together, we were a perfect match to make a child with no similar genetic dispositions. Meaning, I was the only carrier of the gene and when Summer was created she spontaneously duplicated the gene. This is the first documented case of this with Brat1.
Over the course of the next few days our goal was to get Summer home to live her final months with her big sister, Penny, and allowing our family and friends to love on her. On the morning of Tuesday, April 4th, Summer was showing signs of distress. We knew she didn’t have much time. The medical team worked promptly to get us discharged immediately. We brought her home on hospice care Tuesday afternoon at 4pm. 
Over the next 24 hours Summer fought hard. She was snuggled, sang too, had her sissy change her diaper, heard her family laugh and cry, and got to enjoy the smell of her home. 
At 4pm on Wednesday, April 5th, Summer passed quietly in her our arms. Just 6 days after her diagnosis and the day before her 6 week birthday. She was at peace. Her little body  that fought so hard for 41 days was finally at rest in our arms. It was never enough time.

With every breath we take, our hearts long for Summer to be here. Our hearts are broken and empty. We find comfort in knowing her body is at peace. 

- Sarah, Summer’s mom

Our son Wyatt was, and is, one in 1 million in more ways than one. With absolutely every single odd stacked against him, our little warrior made it through for two months we will cherish for the rest of our lives. Ali’s water broke early at 23 weeks. The doctor told her she would likely deliver within the week. Wyatt held on for 6. He came into the world via c-section at just a few days over 29 weeks gestation.  He came out crying and breathing with minimal respiratory support to everyone’s surprise. After a relatively uneventful month in the NICU, Wyatt developed unprovoked, intractable seizures that were resistant to all medications. His vital signs were becoming more irregular, and he required extensive respiratory support.  Over the course of several weeks, our brave cowboy was poked and prodded more than any adult human we know. And like the true warrior he is, he handled it all with a brave face. With the sweetest demeanor and most calm, loving energy, you would never know this little boy was so sick. Through the efforts of the incredible NICU staff and modern-day science, we were all able to finally get an answer for his mysterious symptoms… A very rare, genetic anomaly with a prevalence of less than one in 1 million.

After receiving the fatal diagnosis, we decided to lovingly remove all support and pursue comfort care only. Wyatt spent his last 24 hours surrounded by family. He was able to meet his big sister Nellie, all 3 aunts, and all living grandparents. He spent his last night in bed, in between his mommy and daddy, and sailed off into the other realm with a sendoff of Over The Rainbow and Freebird. There, he was greeted by his Grampy who he was named after. 

While he was not here for a long time, we all learned so many valuable lessons from this incredible human being.
Thank you, Wyatt, for teaching us to live each day with purpose, to focus solely on what’s in front of you… the right here and the right now…to Win The Day. 

- Ali, Wyatt’s mom