Help Ava Grace Beat the Odds #TeamAvaGrace

Ava Grace Chandler passed away peacefully in her mother’s arms at 12:15 AM on August 4th, 2022. She was 10 months old.

Ava Grace was born with an incredibly rare genetic difference called Kagami-Ogata Syndrome (KOS). Fewer than 100 children have KOS worldwide. KOS has many hallmarks that make survival at birth highly unlikely. Ava Grace beat those odds, then gave us 10 months of miracles, surprising and inspiring everyone she met with her smile and tenacity.

She loved to hold hands, anyone’s hands, to wave, to read stories (especially Pancakes! Pancakes! By Eric Carle and Whistle for Willy for Ezra Jack Keats), to play with her brother Jack and sister Cece, and to happily chew on stuffed animals, especially those with soft fur. Her favorite was bath time, which was a daily spa trip to her, complete with bows and pigtails for her gorgeous copper-red hair.

That red hair matched the fire inside, as she was the strongest little warrior any of us have ever seen. She was a pure and innocent expression of God’s love on earth, the greatest gift, and a wise teacher for all of us.

In her last hour on earth, her mama and daddy took her to the rooftop garden at Children’s Hospital of Alabama, where her mama held her, she felt a beautiful breeze on her cheeks for the first time, and her daddy read her Goodnight Moon under an open night sky.

She is survived by her parents Tonya and Joe Chandler and siblings Jack and Cece of Homewood; grandparents Tony and Debbie Johnson of Athens and Kathy Chandler (Jerry, deceased) of Anniston; and numerous loving Aunts, Uncles, Nieces, Nephews, and Cousins.

The nurses, respiratory therapists, doctors, and staff of UAB’s NICU (Blue Pod) and Children’s NICU also quickly became family, and they always will be.

Very little is known about Kagami-Ogata Syndrome, so Tonya and Joe, with the love and support of family, are starting a non-profit organization to support research, advocacy, and education about KOS. In lieu of flowers, please donate to Team Ava Grace, which will be used to establish the foundation:

https://www.gofundme.com/f/help-ava-grace-beat-the-odds-teamavagrace

Let the little children come to me, and do not hinder them, for the kingdom of heaven belongs to such as these. (Matt. 19:14)

What will separate us from the love of Christ? (Rom 8:35)

Whether we live or die, we are the Lord's. (Rom 14:8)

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Original description

Ava Grace Chandler was born on Tuesday, September 28th at 10:28 AM. She has an incredibly rare genetic condition called Kagami-Ogata Syndrome (KOS), also known at UPD14, which involves a random mutation of her 14th chromosome. There are only 81 cases documented worldwide, now including her. She’s been intubated and in the NICU since she was born.

Ava Grace has multiple challenges, the biggest of which is musculoskeletal abnormalities that make it very hard for her to breathe. She has “coat-hanger” ribs, which are unusually small and sharp, restricting the size of her lungs; she has an abdominal wall defect that makes it hard for her to do the mechanical work of breathing (she might be missing her ab muscles on one side); and she has dystonia, which is generalized muscle weakness that makes her tire out easily when she moves at all, including to breathe.

She will also likely have developmental and learning challenges; she only has one kidney; she has trouble swallowing and has a feeding tube; she has multiple joint contractures, including in her hands; she has severe scoliosis; she has shortened arms and legs; and she produces large amounts of thick mucosal secretions which make breathing and swallowing even more difficult.

KOS babies often do not survive past their first week of life, so she has already defied the odds. In fact, Ava Grace is making a habit of teaching us new things every day.

Because this condition is so rare, we don’t know what her long-term outcomes will be for sure. We do know that making it to her 5th birthday is a magic mark for longer-term survivability, but that she will require substantial support as long as we are blessed to have her.

She has taken on several nicknames already: Sweet Pea, Squishy, Bubble Guppy (for the secretions), and our Unicorn. Her older brother Jack and older sister Cece love her very much. They are processing all of this in their own way, which has brought its own set of challenges.

Prior to Ava Grace’s arrival, Tonya had several large obstacles of her own to overcome. In April, at 12 weeks pregnant and before we knew about the KOS, Tonya’s appendix burst. Because pregnancy limits the kind of imaging that can be done, the rupture went undetected for about a day and a half. During that time, she developed peritonitis and was on the verge of sepsis when it was caught. She had surgery to remove it and clean out the infection in her abdominal cavity. She came through and so did Ava Grace. Tough Mom, tough baby.

A few days after we left the hospital, we went to get a non-invasive genetic test to check for more common genetic syndromes like Trisomy 21. The test came back inconclusive, which was our first clue that something was off. We went to get an ultrasound and saw multiple soft markers for Downs Syndrome. We made an appointment with a genetic specialist to follow up. At first, we were told it was likely Trisomy 18, which is fatal. We were crushed. To be sure, we opted for an amniocentesis.

Then, the first genetic test, called the FISH, came back normal, ruling out all the trisomies. Then her karyotype, or full chromosomal scan, came back looking normal. We were cautiously optimistic that there had been a mistake, that Tonya’s surgery had somehow thrown off the genetic tests. The final step was to send the amnio, and samples of Tonya and my DNA, to a specialty genetics lab in Montana for a micro-array analysis. We waited for the results with some hope.

The results came back clearly indicating KOS / UPD14. Thankfully, it was the random mutation variety, meaning that I wasn’t a carrier, and we didn’t have to get Jack and Cece tested as carriers. We were transferred from Brookwood to UAB for care, since we knew the rest of the pregnancy would be especially difficult.

One of the difficulties with the pregnancy was severe polyhydramnios – an over-accumulation of amniotic fluid. Tonya quickly looked like she was carrying full-term twins, even in the second trimester. It made it hard for her to breathe and sleep. We had an amnioreduction, but the fluid came back within days. At that point, we were weighing a C-section and potential prematurity with Tonya’s safety and the challenge of a spontaneous birth since Ava Grace would require so much support immediately. Miraculously, we made it to 37 weeks. The C-section went smoothly, but Ava Grace was non-responsive when she was born with Apgar scores of 0 across the board. They did mechanical ventilation until she could be intubated a few minutes later. 29 days later, here we are.

We do not know when we will get to take her home, but we’re hopeful. She has already shown us so much.

We are very lucky to have insurance, but even with that coverage we have medical bills that are due immediately. This GoFundMe will help cover that substantial gap, help us pay for downtown parking at UAB (we are at the NICU everyday), help pay for specialty equipment that Ava Grace will need when we take her home, and help cover childcare for Jack and Cece when needed.

Thank you so much for your love and support. We all feel it deeply.

Go #TeamAvaGrace!