Ella’s legacy: Turning tragedy into an international advocacy network for PVNH

By Yolaine Dupont

Ella

She was born in Vancouver, British-Columbia at 39 weeks, weighing 5 lbs. and 7 oz. With a nearly flawless APGAR score, her father’s mouth and nose, along with my eyes and full set of dark hair. Just as I imagined she would be, Ella was picture perfect.

Still, I had an uneasy feeling. Ella was frail, and her breathing seemed off. I mentioned it to her doctor and nurse, only to be quickly reassured that all was okay. After five days, I took her home. But that upsetting feeling would not go away. The old expression “Mom knows best” turned out to be true.

By Ella’s second month, she was admitted to the emergency room and was diagnosed with bronchiolitis, following a few tests. After a short stay, we were sent home.

Two weeks later, cutting our trip to introduce her to family short, Ella went back into the hospital. A follow-up x-ray had shown a clear progression of lung disease, and doctors were careful to rule out food aspiration and the more scary diagnosis of cystic fibrosis. But nothing prepared us for what was to come.

At 3 months old, Ella “the Zebra” (as she became known) was puzzling doctors. Her lungs were badly damaged, plagued by emphysema. We were told she was too young for lung resection or a transplant, despite the fact she was struggling to breathe. Her saturation would suddenly drop as low as the 40 and 30s. Ninety-six is the normal saturation at room temperature.

After spending one month in the hospital, Ella came home again with tanks of oxygen, to be use 24/7. Her time at home lasted less than two weeks.

On Dec. 9, 2008, Ella was re-admitted to the hospital. She was moved to ICU within a day. A balloon was inserted in her right lung to relieve the pressure. It worked…for a few short hours. From there, Ella was paralyzed almost daily by medication to relieve her of the breathing problems. She was intubated, then put on bi-bap and c-pap, high flow oxygen cannulas and finally, in mid-February, Ella received a tracheostomy. Doctors really did not know what was causing her lung disease or how to treat it. Through it all, Ella smiled, played and danced in her bed. She let herself be rocked and very much be loved. Oh, and she grew. And as she grew, so did the plagued lungs.

On March 27, 2009, at the age of 7 months and 20 days, Ella died in my arms, surrounded by family and caregivers who desperately tried to save her.

I had already begun a quest to find all that I could on the leads that we had. With Ella gone, I was more determined than ever to find answers. I kept saying “Ella has laid out the puzzle pieces for us to solve.” All along, I had said whatever plagued her came from me. The best diagnosis they could make was CMV, or cytomegalovirus. However, an autopsy pointed to something else that was already on the list of findings but was never really investigated or explained to us. Six months after losing Ella, a DNA test sent to Boston Children’s Hospital, confirmed Ella’s diagnosis of X-Linked periventricular nodular heterotopia (PVNH) due to a filamin A (FLNA) mutation.

PVNH Support & Awareness was created in late 2009—originally started as my one person Facebook group. Within 24 hours or so, a mom from New Zealand found me. And then another from Germany did too. And another from the U.S. And so on.

Ella and Yolaine

Shortly thereafter, we found an old x-ray report for my mom confirming she, too, had PVNH. And then my own DNA test also sent to Boston, confirmed what I already suspected: we were a rare three-generation affected family. But there were no one else like Ella. At that time, her lung presentation was not in medical literature. My first outreach to Dr. Walsh back in 2010 paved the way to a strong collaboration with Boston Children’s Hospital.

Today, there are 185 families from 16 countries in the international non-profit support organizations I created. There are also 15 other children like Ella, with PVNH and life-threating lung disease – some older, and some younger. Most have had successful lung resection/lung transplants.

Throughout 2012-2013, I travelled throughout Canada, the U.S. and Europe to meet with some of the top researchers in PVNH, bringing awareness about PVNH, attending conferences and receiving training. I launched the first annual PVNH Disorder Awareness Day on August 7, 2012, which would have been Ella’s 4th birthday, with the support of eight of those medical specialists in eight different countries.

This week, as I remember the blessings of being Ella’s mom when she was by my side, I will be hosting the first World PVNH Disorder Conference in Boston.

I can’t bring Ella back. And I don’t think anyone would blame any bereaved parent for curling up in a ball and crying for the rest of their lives. I could have chosen that path. But that was not an option for me. Nor would Ella want that for me, I am sure.

By bringing awareness to PVNH and its sometimes debilitating symptoms such as epilepsy, lung disease, aneurysms, gastrointestinal and even psychiatric issues, I can try to prevent another tragic death. I can educate newly diagnosed families and doctors who are unaware of PVNH. I can work with PVNH specialists in Boston and those overseas to positively impact the story of other PVNH families. Selfishly, it allows me to keep Ella’s memory very much alive in my life and in my heart, as well as in the hearts of other PVNH families that come into contact with me and with PVNH Support & Awareness.

To learn more about the program that identified Ella’s condition, and is working to better understand PVNH through a multidisciplinary effort, visit the website for The Brain Development and Genetics (BrDG) Clinic at Boston Children’s Hospital.