Feet up. Dancing to the beat of her own drums :)
My name is Yolaine Dupont and I am Ella’s Mom. I live in Vancouver, British Columbia, in Canada and thanks to Terry Hoey and his family, I am able to share Ella’s story with you today - in Belfast for Rare Disease Day 2012. But before I do, let me tell you about my involvement with rare diseases. I am an affected patient, a member and support parent of the Rare Disease Foundation and a member of the Canadian Organization for Rare Disorders. I founded Everyone Loves Little Angels and PVNH Support in 2009, and in September 2010, I was invited to participate in a day on Parliament Hill to sensibilize the Canadian elected government to rare diseases. In March 2011, I received a grant to represent PVNH Support at the American College of Medical Genetics Conference. And although Terry and I never met in person, we became great friends because of our common cause: the fight for rare diseases
Here is Ella’s story.
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 healthy at 5 lbs,7 oz. From the day she was born, I suspected breathing problems but was quickly reassured she was okay by medical professionals. So, we started our new life as a family, and enjoyed every bit of our little monkey of a daughter. But every once in a while, I noticed Ella’s breathing was off. And each time I brought it up to doctors, I was told she was perfectly healthy and not to worry.
When Ella was two months old, her breathing became clearly labored. An x-ray detected an anomaly on her lungs. At first, everyone was thinking Ella suffered from a viral infection. We were hospitalized for 3 days and discharged with antibiotics. Two weeks later a second x-ray showed a progression. Something was definitely happening to Ella’s lungs.
It took a few more weeks to confirm that Ella had end-stage emphysema on both lungs and that one of her lungs was grossly over-inflated, wrapping over her heart. By the time she was 3 months, Ella was in her 2nd hospitalization and facing a life-threatening disease. My perfect little daughter was plagued with an old people’s illness, and yet remained rosy, and happy – baffling medical professionals. Ella started 24-hour oxygen therapy to help her little lungs cope and we braced ourselves for a very rough ride, not knowing what really was happening to her.
Ella underwent a CT scan of her lungs, countless x-rays and blood work, a heart echo, skin and lung biopsies and a brain MRI among many other tests. She was seen by genetics, Ears/nose/throat specialists, infectious disease, rheumatology, neurology, cardiology, etc. At this point, doctors still had no clue what caused Ella’s problems. We were discharged because Ella was gaining enough weight and she would be more comfortable at home. Our return home lasted barely two weeks.
Ella’s breathing, even on 24/7 oxygen therapy, was still very problematic. She appeared to be de-saturating suddenly, and returning to the hospital, we found out she would dip as low as the 40s and 30s, when the norm is the 90s.
By December 2008, the medical team at BC Children Hospital had tried everything in their power to piece Ella’s medical mystery together. She did not appear to fit one single disease and remained undiagnosed. 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 work. At that time, Ella was intubated, and then put on a breathing mask before receiving a tracheotomy, where 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 most importantly fighting.
Ella hamming it up under her maskOn 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 her last breath. The emphysema had taken over her lungs. 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. In her short but oh so meaningful life, Ella touched countless people, and she continues to do so.
Though punctuated by illness, Ella's days were filled with love and laughter. 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!
But even after her death, her diagnosis remained a mystery. We had a few leads, but nothing concrete. So we requested an autopsy.
A few days after Ella died, I created ELLA – Everyone Loves Little Angels TM in tribute to Ella, with the goal of fundraising to provide support to families with children affected by rare diseases and bereaved parents. It was also my way of keeping Ella’s spirit very much alive.
At the same time, I was determined to get to the bottom of Ella’s disease. It took six months to get potential answers from the autopsy report which pointed very clearly to a rare genetic disease: X-Linked Periventricular Nodular Heterotopia (PVNH for short – 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, the obvious one, epilepsy, was never present. So, some on our medical team were still doubtful. For the longest time, some doctors thought Ella had suffered from Cytamegalovirus, otherwise known as CMV. But somehow I knew that what plagued Ella came from me.
Our genetics team ordered her DNA tested to confirm the findings. But because Ella had died, we were told twice that our medical system would not pay for the test that was only offered in one location in North America, in Boston. On the third ask, we finally were granted funding to test, a blessing because the lab would not take a personal payment from me. After waiting nearly 2 months, we found that not only did Ella have PVNH but the responsible gene which is usually mutated was entirely missing. This complete deletion had not been documented to date.
By October 2009, six months after Ella’s passing, I finally received a formal diagnosis for Ella, a diagnosis affecting less than 1 in 1 million people, one made up of two rare diseases combined: X-Linked Periventricular Nodular Heterotopia, Ehlers Danlos syndrome variant (or PVNH4). With it, came the conclusion from the pathologist that Ella did not have healthy lungs to sustain a 3-kilo baby and yet, she grew and lived until she was over 7 kilos. My little miracle!
From there, my mom and my own diagnosis were also confirmed. My mom, then 71, was mostly asymptomatic, and I now know all my long-term medical issues can be explained by PVNH4. Upon finding out what took Ella from me, my quest to connect with and help families stricken by this disease was overwhelming. I created PVNH Support, and today, there are 73 other families worldwide affected by PVNH/PVNH4 that support each other. Most patients are children and none show the same symptoms with the same level of intensity. Nonetheless, we all share the same feelings: we should not have to fight for diagnosis, for treatment, for a cure. I am no longer alone and neither are they, thanks to my angel Ella. We now help each other through our families’ ups and downs and educate each others and medical communities alike around the world.
And this past January, one of my biggest victories was achieved when a paper was published in Neurology magazine featuring our family case.
Had I not fought so hard for my baby girl’s diagnosis, many families would be living alone, and in the dark. The most common comment I hear to this day from just about every family affected by PVNH is “I though I was alone”. And this is true of any rare disease you encounter.
We may be rare, but together we are strong. And children like Ella and Cavan are the reason we all fight so hard, to give a future to children and adult patients affected by rare diseases.
To close, I’d like to borrow the words of Dr. Seuss: Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.
Thank you!
Ella's Story - Video for Belfast Rare Disease Day 2012
www.PVNHsupport.com
www.EveryoneLovesLittleAngels.com
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