Summer's Story

Our beautiful and perfect Summer James was born on February 23, 2023 at 11:58am. She is truly one in a billion. 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 30, 2023, we received the diagnosis that would forever change our lives, Summer suffered from a genetic disorder called Brat1. An extremely rare diagnosis that currently only has 18 known cases, with the first known case discovered in 2012. 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 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. The genetics specialist said she has never seen this happen before… ever. Summer is literally 1 in 7.86 billion.

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 4, 2023, 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 5, 2023, 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. She fought a hard battle.

We can't thank you all enough for all of your support during this very difficult time.

All our love,

Doug, Sarah & Penny