I’ve got a teenager!
My daughter Ella Dupont Bedassie was born full-term at 39 weeks on August 7, 2008. Although she’d be slow to grow in-utero, Ella was born naturally and by all appearances healthy at 5 lbs, 6 oz.
I suspected breathing problems from day 1, but was quickly reassured. So, we started our new life as a family and enjoyed every bit of our little darling daughter.
By the time Ella was two months old, in October 2008, her breathing became very labored. I had questioned her health multiple times flanked by lactation practitioners who saw what I saw, but could not convince doctors to listen. She spent Thanksgiving in hospital, was released and I hoped for the best.
Fast forward to the end of that month, and we had to rush back from our trip to introduce her to family. It was then that our world flipped upside down…
I took her in to the hospital for testing. An x-ray detected an anomaly on the lungs and further investigation confirmed that Ella had end-stage emphysema on both lungs and that one lung specifically was grossly over-inflated, wrapping over her heart. By the time she was 3 months old, Ella was in her 2nd hospitalization at BC Children’s Hospital.
In late October, Ella had started 24-hour oxygen therapy to help her little lungs cope and we braced ourselves for a very rough ride and what would become nearly 6 months of hospitalization.
By December 2008, the medical team at BCCH had tried everything in their power to piece Ella’s medical mystery together. Based on her symptoms, she did not appear to fit one single disease and the emphysema remained without a root cause. Every single test we did came back normal including genetic testing. Even a breakthrough procedure of inserting a balloon into her inflated lung to relieve the pressure did not have the desire effect. At that time, Ella was intubated.
In January 2009, the tube was replaced by canulas again and then by a mask. Finally in February, Ella received a tracheostomy (a tube inserted in her neck with a direct connection to her trachea). As Ella slowly grew bigger, her lungs continued to deteriorate and it became clearer than ever that she might not survive. But Ella kept smiling, playing, learning and fighting. We had started sign language. She had a menagerie of stuffiest in her hospital bed. She danced in her bed. And had tons of people cheering her on, and trying to heal her.
February was hopeful. I remember giving an interview for the hospital fundraising drive saying doctors indicated we may be able to go home in August, around Ella’s birthday. But March brought on more problems. As Ella grew, her lungs deteriorated.
On March 27, 2009 – 4 days after being baptized in the Intensive Care Unit, Ella passed away peacefully in my arms, surrounded by family and amazing caregivers who desperately tried to save her life until the last moment. Ella lived 7 months and 20 days – most of it in the hospital. Had it not been for her very obvious medical equipment, you would have never known she was sick, let alone on borrowed time.
Ella was a bright, vivacious, fun little girl who loved to smile, dance to the beat of her own drums and play with everyone she came in contact with – her spirit far, far bigger than her little body! I was fortunate to be able to stay with Ella 24/7 in the last week of her life and sleep in the same bed as my baby girl for the last 48 hours. We also benefitted from the wonderful and selfless services of the Now I Lay Me Down to Sleep foundation – a professional photographer, Jane Eaton Hamilton, donated her time to capture amazing moments with Ella.
At the same time, I was determined to get to the bottom of Ella’s disease, as were our medical team. It took six months to get a clearer direction and it pointed very clearly to a rare disease: X-Linked Periventricular Nodular Heterotopia (or PVNH – where gray matter does not migrate to its proper location in the brain causing short circuits in development). Ella had not shown all the symptoms. In fact, most of them were not clearly present, or so we thought. Our genetics team ordered her DNA tested to confirm the findings. Not only did Ella have PVNH but the responsible gene which is usually mutated was entirely missing. This had not been documented before.
By October 2009, I finally received a formal diagnosis for Ella, a diagnosis so rare it is believed to affect less than 1 in 1 million people. A rare disease: X-Linked Periventricular Nodular Heterotopia with interstial lung disease, caused by a deficiency in the gene FLNA. So my quest for families stricken by this disease started and PVNH Support & Awareness was born.
Out of love. Out of necessity. So that no other families is put in my shoes.
By now, you understand that Ella is no ordinary teenager. I like to say she lives on a pink cloud, surrounded by angels like her. And she helps guide me on a mission, propelled by her life’s purpose: to positively impact the lives of families affected by PVNH and other neuronal heterotopia disorders.
I’ve now lost count of the number of interviews and scientific articles about Ella and about my mission. But I know I have much more work ahead with research being at the centre of it all to improve diagnosis, care and treatments.
-Yolaine, Ella’s Mom
