KK Name: Annabelle Pallascio
Born: March 2, 2013 - Passed: November 17, 2015
Cognitive Age: 24 months at date of death
Therapies: Occupational, Physical, Speech therapies
Parents: Michel Fortin and Catherine Pallascio
Kabuki Symptoms: Coarctation of the aorta, hypoplasia of the left ventricle (pacemaker implanted), polymalformative syndrome, dysphagia and eating problems (tube-fed), GERD, hypotonia, developmental delay, bilateral hip dysplasia, cleft palate, bilateral hearing loss, bilateral ear tubes, lymphocyte deficit, immunocompromised, suspected early puberty, suspected dysgenetic encephalopathy
Non-Kabuki symptoms: Plagiocephaly
Annabelle's Story: Michel and Catherine were ecstatic when they learned they were pregnant with their first child, Annabelle, as most newly expecting parents are. They learned early on that Annabelle was going to run the show, before she was even born. They were told Catherine was a high risk pregnancy and were referred to a specialized children’s hospital. They knew their baby would need heart surgery soon after birth, but it was only after she was born that they learned the extent of the problems Annabelle would have.
For the first two and a half months of Annabelle’s life, Michel and Catherine lived in a small room at the hospital. When Annabelle was just 12 days old, she had her first open-heart surgery to close the pulmonary arterial duct, close a VSD, patch and enlarge the ASD and perform a tricuspid valvuloplasty. She underwent her second surgery just a month later. Annabelle developed a complete atrioventricular block following her first surgery and needed a pacemaker implanted to keep her heart functioning properly. Finally, a month after that on May 18, 2013, Annabelle was finally discharged from the hospital.
The major concern for Annabelle at this point was feeding. Due to her heart condition, hypotonia and cleft palate, breastfeeding was not an option, something that was difficult for Catherine and Michel to accept. As a new mom, it’s something to look forward to in bonding with your baby, so when things don’t go as planned, it’s very difficult to deal with. But they adjusted and did the best they could with feeding, attempting to get her to eat by mouth as often as possible. Unfortunately, Annabelle would not take enough orally to sustain herself and was tube fed through an NG tube. Doctors did not want to place a G-tube because of her pacemaker and the fear of infections.
After discharge, Annabelle still had many medical tests and doctor’s visits. Michel and Catherine’s schedule now revolved around making sure Annabelle made it to her appointments and ensuring her care went as needed. Otherwise, they were able to watch her grow and improve every day. She took her first steps at 18 months old at a family gathering on Labor Day. Michel says, “Her first hug was a magnificent moment that we will never forget.” She learned about 30 words and knew some sign language. She loved being sung to and playing music, with music being one of the key things to help calm her in various emotional states. She loved it so much that she even learned to press the piano keys to the rhythm of the melody of a children’s song called “Au Clair de la Lune” (Under the Moonlight, see video at the bottom of this page). Her parents were beyond proud!
While Michel and Catherine did not have much support from family and friends, save the occasional visit from Annabelle’s maternal grandmother who was a retired nurse and able to help out here and there, they were blessed with some aid and acceptance of a nearby institution designed to help families with special needs children. The place is called The Lighthouse - Children and Families. It is the most generous and only palliative care center for children in the province of Quebec. It gives parents respite, allowing them to take time for themselves, while being able to provide medical care for the children. They have a staff of nurses, physicians, physiotherapists, psychologists, cooks, volunteers and more. And there was no cost!
Annabelle loved The Lighthouse. Catherine says, “I didn’t have time to put her luggage down, she would take her baby stroller and Elmo and walk down the corridor to find other children and be in their presence. Even if she couldn’t communicate with them, both because she barely said words and because most of the children were severely impaired by their conditions, she would pat them on the leg and create contact with them. Empathy was her biggest strength and curiosity drove her. She didn’t know timidity or being shy, and she was often nicknamed “Little Star” at The Lighthouse and everyone there loved her as much as we did.”
The Lighthouse became a second family for them and a second home for Annabelle. Knowing they were there for her 24/7 was a huge help, and the facility still supports Michel and Catherine.
At the age of two, Annabelle was able to attend the community daycare, called Escale Famille Le Triolet, by herself and participated as much as the other kids her age did. She spent half a day there, typically in the morning, until Catherine would pick her up around lunch for a tube feed. Annabelle loved it there, too, and was happy to be dropped off to play with her friends.
In the fall of 2015, Annabelle was slated to have a second open-heart surgery. She had stenosis under her aortic valve. The procedure was supposed to be easier than her first one and with less risks. They went in the night before and stayed in preparation for the surgery, but ended up being sent home the next day due to lack of medical personnel and adequate equipment. This gave Michel and Catherine an extra three weeks with Annabelle.
A few weeks before the surgery, Michel and Catherine learned that while Annabelle had a developmental delay, the delay was only about 6 months and was not increasing. She had received her Kabuki syndrome diagnosis around one year of age, but by then they had already learned of her conditions and it was just a matter of putting a name to what they already knew.
Even though the heart procedure was supposed to be less risky, they still took lots of pictures the day before. They stayed with her as long as they could, holding her tight, signing songs and rocking to help calm her. They were terrified, but kissed her goodbye and watched her be taken away in her bed feeling helpless and like they had abandoned their daughter. Those feelings turned into guilt and anguish when they were called into a room prematurely. The room they were put in was one in which they knew bad news was delivered. Annabelle did not survive the surgery, and they were told she did not feel any pain or suffering.
“She is still with us in our mind, in our heart and in our house. Three and a half years later, we're still looking for her everywhere. Hoping to find something of her. A forgotten memory, an undiscovered photo, an previously unknown anecdote from anyone. It is the most difficult thing to do, in our society, but we do what we can to make sure that she's never forgotten. We miss her SO much, it is indescribable… We love you, Annabelle, our dearest daughter,” said Catherine.
And The Lighthouse that Annabelle loved so much has a commemoration ceremony every year for children who do not survive. The ceremony honors the children in the fondest of ways, and the families know that their children will never be forgotten.
Annabelle’s Favorites: "Annabelle loved to take her bath, to jump in bed as if it was a trampoline, play with balloons. She was eager to make contact with other people, especially other kids. She loved going to The Lighthouse and to the community day care. And Elmo was her favorite character, with Big Bird, Cookie Monster and Ernie! She would take her baby stroller and walk with them like a big girl. We are so proud of her beyond any words can describe.
For her evening routine, she would love that we read books for her. After her bath, she would have a sweet time in her indoor swing and she would sing songs along with us, like the famous Elmo song. Then we would rock her and sing songs to her, in a dimmed soft light. I would sing the song I made for her. She would say “encore maman, encore maman” (again mommy, again mommy)."
How Annabelle impacted the family: "We had to become experts in all sort of medical care, learn to be nurse, occupational therapist, physiotherapist... Being a Kabuki parent made us really understand the difficulties of having a special needs child and it made us realize the gigantic lack of resources and support for parents.
At the same time, we always saw Annabelle as the most beautiful child, everything about her was beautiful. Every features. We never saw her as being different, we saw that she was this unique loving child. Her contagious smile, her curiosity, her empathy, and her determination was everything for us and made us so proud.
The Kabuki syndrome cause has become close to our heart, even if we struggle everyday to continue on with life and to honour our Annabelle’s memory. Annabelle's death changed us the most. It certainly was traumatic since she was not expected to pass. Now everything becomes a reminder of her absence. Many things in the news, entertainment and social interactions remind us of the injustice of her passing. We feel betrayed and hurt that she did not get to live further after all of her successes, amazing progress and immense battle she endured. We live everyday the heartbreaking pain of losing her, it is unimaginable and unexplainable. We've become very sensitive and even more emotionally moved by other people’s tragedy."
Advice for Kabuki families: "Never give up. Your day-to-day efforts, how insignificant they may seem now will pay off later and your child will benefit from them. But, don't forget to take a break when you need it. Listen to your body and your mind and try to find sources of respite. We would give everything to be able to be with Annabelle and to love our child just like you do. We see every Kabuki child as being a brother and a sister from different parents to Annabelle. We see all of them as being related. We don’t have an explanation for that feeling. We just have all the love in the world for Kabuki children and their family. You have the most beautiful child and every moment is precious. We know the hardship. Where there’s life, there’s hope."
Advice for parents of “typical” children: "Don’t be shy or afraid of a Kabuki child, to talk to them or their parents, to ask questions. Although the emotional and work loads are sometimes difficult, parents of a Kabuki child would only love to share their child’s uniqueness. A Kabuki child will progress and grow as any other child, even if at a slower pace and differently. Kabuki is a condition, it’s not a person. And it doesn’t define a person. Kabuki children are a source of wonder and pride, as much as any other child. They are beautiful, wonderful and amazingly loving children."
Annabelle’s story is one of strength, courage, love and loss. She was an amazing little girl who lit up the room wherever she went and who was loved by many, family or not. She was every bit a Kabuki kid who was always happy, loved music, and whose smile was contagious. No matter what, her memory continues to live on through the love of her parents, and she will never be forgotten.You will always be in our hearts, and know you are loved! For more photos of the amazing Annabelle, please click here!