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, 6 oz.. I suspected breathing problems but was quickly reassured. So, we started our new life as a family, and enjoyed every bit of our little monkey daughter.
When Ella was two months old, in October 2008, her breathing became very labored. I took her in to the clinic and then to the hospital. 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 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 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.
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 (in black and white here).
In April 2009, I created ELLA – Everyone Loves Little Angels TM in tribute to Ella, with the goals of 1) fundraising for BCCH and other causes benefiting sick children and their families to ensure they have the proper comforts and equipment made available to them such as rockers, beds for parents, DVD to entertain kids, books to read, toys to educate, etc. 2) providing support to bereaved families who have lost a baby or a child 3) ensuring that Ella’s diagnosis would be found so that, one day, doctors around the world would be well-enough informed of her symptoms and her medical case to diagnose another baby or child before it was too late to save him or her.
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 potential answers and they 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 present. 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, it appears, has not been documented to date.
By October 2009, I finally received a formal diagnosis for Ella, a diagnosis so rare it affects less than 1 in 1 million people, a diagnosis made up of two rare disease combined: Periventricular Nodular Heterotopia with Elhers Danlos syndrome. So my quest for families stricken by this disease started.
I’m so moved by your story. I’m so sorry about Ella. My wife and daughter have pvnh, as a result my wife is epileptic, has back trouble, and boruises easily. Our 7 yr old gets winded pretty quickly when she runs ( you can be sure I will have her checked! ) but other than them seeing pvnh in utero with a sonogram at 6 months and confirmed with MRI, other than some language issues, she’s been symptom free. Than you so much for creating this site and sharing your story, as hard as it was to read. we never scanned our scone child because we came to realize there’s nothing you can do for them anyway other than watch them.
Hi Joe, I am so happy to hear you found the site helpful. I am still working on adding pertinent information to it and it will be evolving, albeit very slowly. I encourage you to join our Facebook PVNH group, which now has 54 families who support each other. I created it 2009 after we received formal confirmation of Ella’s diagnosis, six months after her passing. There are other known cases now of PVNH and lung issues – 1 boy and 1 girl, both in Europe. Some of the kids in the PVNH group also have asthma issues so letting your medical professionals know can ensure your daughter will be properly monitored. If I can be of any help or support, or if you have questions about PVNH that remain unanswered, please do not hesitate to contact me!