1 in 100 million
What exactly is Trisomy 9 Mosaicism? We (Kyle and Candice), like most others, had never heard of it until Friday, 29th July, 2016. A doctor called Kyle with the news that Anastasia had “an extremely rare chromosomal disorder called Trisomy 9 Mosaicism (T9M).” The doctor couldn’t give us more details because she and her colleagues had never seen T9M before.* She set up an appointment for us to meet with a geneticist on Monday morning.
Our next week was consumed by Google searches of T9M to find out what it could mean for us, our family and our little girl who was still fighting for her life in the NICU. There isn’t much information available because it’s believed that there are only 150 people in the world with T9M. The little information we did find, however, was not encouraging.**
In just a few minutes, we went from envisioning our twin daughters walking to school hand-in-hand, squabbling over their favourite foods and playing together to wondering how long Anastasia would live and what her quality of life would be.
The geneticist made it sound even worse than we had anticipated and suggested that we consider stopping the adoption process. But we had already spent every day of their lives (two months) with both girls, willing them to survive, giving them names, finding tiny clothes for them to wear, holding them and proudly mailing baby photos to family and friends. We knew the twins shared a unique bond with each other. The specialists believe Athena kept her sister alive. One of the reasons T9M is so rare is that it usually ends in miscarriage or stillbirth. But Athena shared nutrients and blood flow with Anastasia while the twins were in-utero. Athena, who lives up to her namesake, continues to encourage and protect Anastasia.
We went ahead with the adoption and never looked back. But it hasn’t been easy.***
When strangers ask “what is wrong with your daughter,” the simplest answer is that she has something like Down Syndrome. But that answer is far from complete, because T9M is more severe. Down Syndrome is Trisomy 21, which means instead of having two copies of the 21st chromosome, there are three copies. Similarly, Trisomy 9 has three copies of the ninth chromosome instead of only two. Apparently, the lower the chromosome number, the rarer the syndrome and more severe the effects, making Trisomy 9 one of the rarest and severest trisomies.
Full Trisomy 9 is always fatal and the babies die during the pregnancy or shortly after birth. Trisomy 9 Mosaicism is what it sounds like-some of the cells are affected by the extra chromosome, but no one knows for certain if the extra copies are in the little toe or the brain. This makes it impossible to predict T9M outcomes. Some T9M children can attend school and don’t have many health issues. The oldest known person currently living with T9M is 27-years-old. Others only live for a few months and require lifelong medical care. The frustrating aspect of a mosaicism diagnosis is that the doctors can’t tell us what to expect. It’s a “wait and see” approach. We have been told that by Anastasia’s third birthday we will have a better idea of her possible life expectancy, health and cognitive capabilities. From what we have learnt caring for Anastasia over the past 22 months, we believe Anastasia is in the more severe category.
Anastasia’s health challenges, which seem relatively common to other T9M children include:
Dysphagia-inability to swallow
Vocal cord paralysis
Bronchomalacia
Tracheomalacia
Laryngomalacia
Obstructive apnea-she stops breathing when she sleeps
PDA (Patent ductus arteriosus)
ASD (Atrial septal defect)
Hypotonia
Dyskinesia
Kyphosis
Cortical visual impairment
Suppressed immune system
Anastasia also has the following health issues, which are not as common for T9M children:
Pulmonary vein stenosis
Cerebral ventriculomegaly – enlarged ventricles with fluid on the brain
Craniosynostosis
Epilepsy
Hypertension
Morgagni diaphragmatic hernia
A future blog will explain Anastasia’s medical equipment and medications that helps us manage all of the above diagnoses. Needless to say, our home health nurses have become members of our family, and we are in daily contact with Anastasia’s team of doctors and therapists.
It has been the hardest 22 months of our lives, and it would be wrong to say that we wouldn’t change anything. However, we know Athena and Anastasia are extraordinary and have already inspired many people beyond our family. We hope Anastasia will live for decades, rather than years, and are determined to give her the best life possible while she is with us.
Finally, some people wonder why we are doing all this to care for a fragile, special needs, adopted child. There is something that people who know Anastasia recognize and find moving. She is HAPPY. Anastasia wants to be here. She values simple things in life. She giggles when she realizes that we are taking her home after a hospital stay. She strokes our dog’s fur and smiles. She loves car rides and winks at people as we drive past. She cuddles her favourite Elmo toy and nothing makes her happier than listening to the radio while she sits in the sun. Thank you for being interested in her story.
* Out of Anastasia’s 18 doctors, only one of them has seen T9M before. We are all learning how to help Anastasia together.
** Since our initial Google search to find out what T9M is, we have become members of “Unique: Understanding rare chromosome disorders.” The foundation published one of the only papers written about T9M: Trisomy 9 Mosaicism We also joined a T9M Facebook group that has provided a staunch support network of several other T9M families around the world. The families offer advice, information and encourage us through all of Anastasia’s surgeries and hospitalizations.
*** The adoption process was arduous, but it was finalized by a judge in 2016. The judge set the date and time, and ironically the court hearing turned out to be 12 years to the exact day and even hour that Kyle and I first met in London. We also named the girls long before we knew Anastasia Grace’s diagnosis. Recently, we discovered that in Greek mythology, the Goddess Athena had a disabled sibling just like our fierce, little Athena and Anastasia.
