Sienna
Sienna's Story:
When a parent dies, you lose your past; when your partner dies you lose your present, when a child dies, you lose your future. - Anonymous
My husband and I have been blessed to be able to conceive with no issues. I had a very healthy and uncomplicated pregnancy. I had a 36-week ultrasound appointment scheduled to confirm fetal positioning as our baby was breeched at 34 weeks. During this appointment, they noticed she was measuring small for her gestational age (below the 10th percentile). Nonetheless, her profile/well-being score was 8/8 which means that amniotic fluid is great, fetal movements and fetal heart rate are normal. No concerns with the blood flow from the placenta. I was sent to do a repeat ultrasound at 37 weeks on July 24, 2020 and it was confirmed that she is indeed measuring in the 7th percentile. The OB assessed me, reviewed my prenatal report (everything was normal) and conducted a non-stress test on the baby. The non-stress test and her well being scored revealed she is healthy. Given that I am considered full-term, OB recommended that I get induced as they cannot determine why she is measuring small for her gestational age.
On July 26, 2020, I gave birth to my beautiful daughter Sienna Grace Millete Toader in Toronto, Canada. On the same night she was born, she was taken to the NICU at SickKids as she was having challenges with breathing and was experiencing bradycardia episodes. The doctors also suspected a genetic/chromosomal abnormality based on her features. We were supposed to spend the first night together as a family, but instead, our daughter spent her first night at SickKids while we remained in the hospital until the following day when I was discharged. Coming home from the hospital with an empty carseat and spending the first night at home with an empty bassinet were one of the hardest and difficult moments however, this was only the beginning of our painful journey. We never had the opportunity to bring Sienna home.
The diagnostic testing revealed that she developed hydrocephalus progressively after birth and was born with an abnormal brain tissue and dysmorphic brainstem (responsible for basic primitive/vital motor functions such as breathing, regulating your heartbeat, swallowing, eating and sleeping) which explains why she didn't have the drive to breathe on her own and relied heavily on non-invasive breathing support. Taking into consideration the findings from her brain MRI in combination with an underlying genetic disorder, the doctors anticipated that she would not have a normal development, challenges with movement, cognition and her understanding. They expect to be on the moderate to severe end. Because her brainstem is abnormal, she may not have the drive to breathe by herself and may be completely dependent on oxygen support or if she's completely not having any respiratory drive she will need something invasive like tracheostomy which is an artificial airway (permanent airway) and will need a ventilator with that to breathe and requires constant monitoring. Unknown if this would be for life but there is a possibility. The Neonatologist team told us that she would not be able to live a normal life or have a quality of life even with invasive medical interventions such as tracheostomy and feeding tube. It was also advised by the Neurologist that going through a brain surgery to drain the excess fluid would be futile because of the fact that she has an abnormal brain tissue and brainstem. Based on their clinical findings and other babies who have presented in a similar manner, they have enough information to say that her life will not be normal. While they don't have the genetic testing result to tie everything together, they have enough information to know that her prognosis will be a lot more challenging than others. Even if the genetic testing comes back, it will not change her current medical state. At the time, they did not have the diagnosis to explain what caused her medical condition left us anxiously waiting for the genetics test result, praying and hopeful that one day we would get the answers we all have been waiting for.
We were asked to make an impossible and unimaginable decision -- redirect to end-of-life care or proceed with invasive medical intervention.
Sienna fought with extreme determination to spend as much time with us as possible. She passed away peacefully in our arms on Aug 25, 2020.
Sisi was a fighter, she was strong enough to come into this world so she could live to meet us, feel our warm hugs and kisses, smell our scent, hear our voices and feel how much Mommy and Daddy love her.
On Dec 15, 2020, our prayers have been answered and we finally have an answer. We received Sienna’s autopsy and genetics test results. They conducted a Trio Whole Exome Sequencing (WES) which tested my, Ed's and Sisi's DNA. Trio WES is a highly complex and extensive genetic test that identifies any changes or mutation to the DNA. The test revealed they found a "change in spelling" or mutation on Gene ASXL1 in Sienna. In Sisi, only one copy of this gene was working. She was diagnosed with a very rare genetic condition called Bohring-Opitz Syndrome (BOS). The severity of the medical conditions associated with this disorder is unique to each child. We learned during our call with SickKids that there are about 60 BOS cases published in the scientific literature. It has a high infant mortality rate and a lot of the medical conditions they saw in Sienna is consistent with the reports of published cases. Genetics do not yet have a full understanding of all of the possible medical complications that can go along with BOS as it is rare. While they do not know everything about this condition, they do know it has less than 1% recurrence risk. This means that our risk is no more or less than the rest of the population if we were to try again. The trio WES confirmed that neither Ed or I carry the ASLX1 gene pathogenic variant as tested in our blood. As such, she did not inherit the gene pathogenic variant from either of us. It was simply a spontaneous mutation at conception on the ASXL1 gene. There's really no other explanation for it. Although the recurrence risk is very low, they provided options for future testing including invasive testing such as CVS or amniocentesis. Both of which have 1% and 0.5% risk of pregnancy loss respectively. The other options are no testing outside of the routine pregnancy screening and ultrasound given that it's a low recurrence risk and the other option is IVF. Life expectancy with this genetic disorder is not clear as BOS is a more newly recognized condition with most individuals currently being children. As such, genetics don't yet have enough information to know about expected lifespan. In terms of cases published in the scientific literature, roughly 30% of individuals have passed away in the newborn and infancy period.
Trio WES also revealed another variant in Sienna on gene FBN1 which was maternally inherited from me. At this point, it's not clear if the variant is benign (working properly, not causing any medical issues, and just a unique variation) or pathogenic (not working properly, causing medical issues such as Marfan syndrome) because I am otherwise healthy.
Ed and I feel a huge sense of relief with the results from a recurrence perspective. We feel a sense of acceptance and finality of Sienna's death. More importantly, we feel more at peace with our decision albeit a decision that no parent should ever have to make. This is a HUGE step for us to move "forward" whatever this means. We truly believe that Sisi had to come the way she was so she can show us the love and countless blessings our family, friends and strangers have bestowed upon us. Sienna has changed us forever and transformed our outlook in life. Our cherished Sisi will continue to live her legacy by contributing to research.
Sisi loved being outdoors and listening to music. She enjoyed being held by Mommy and Daddy while we read her stories. Even though she would get fussy when the nurses un-swaddled and undressed her, she settled down the moment we held her skin-to-skin. She loved being in our arms. She hated her baths but loved head massages. Our Sisi will be remembered by the nurses at SickKids as the strong-hearted girl who was sassy and not afraid to speak her mind with her dinosaur noises. We were told that she was a night owl and loved to party at night in her crib. She slept throughout the day and was awake through the night – reminiscent of when I had her in my belly.
We admired her strength and perseverance especially during the final days of her life. She had a strong heart and held on so strong so she could give us more time to spend with her, hold her tight in our arms and create more lasting and meaningful memories. Thank you Sisi for the gift of time, for allowing us to spend every waking moment with you, sleep next to you, sing you lullabies, read you bedtime stories, and take our first walk as a family.
Although her time here on Earth was very short, Sienna brought all of our friends and family closer and stronger together. She showed us the strong and unbreakable bond we have with our friends and family through their outpouring love and support during our darkest and most fragile moments in our lives. She has touched so many lives in unspeakable ways. She taught us to deepen our faith in God, patience, strength, courage, and selfless love. God speaks to us in mysterious ways and may not always understand his plans but I believe that, that was God’s purpose in bringing Sienna into our lives.
Despite the profound heartache and immeasurable pain we feel, and the void left in our hearts, we are truly honoured that you have chosen us as your parents. You are God’s greatest blessing and now our guardian angel who will forever live in our hearts and etched in our memories. We will continue to celebrate, remember and honour you. You will always be a part of us and our family. We love you…ALWAYS and FOREVER.
Goodbye my Sisi. We will miss you tremendously and cannot wait for the day when we can all be together again in the Lord’s Kingdom of Heaven.
Ed and I are forever grateful to the doctors, nurses, musical therapists, and members of the Paediatric Advanced Care Team (PACT) at Sick Kids and Emily's House for helping us spend meaningful time and making memories with our cherished Sisi. Sienna will forever live in our hearts and souls, she will be remembered and celebrated and above all, missed tremendously by all of us.
Sienna's Obituary: