When Leila Adamson was born, doctors weren’t sure that she would live for even 63 seconds.
More than 63 months later, in July 2017, she will be in Madison, Wisconsin, along with her parents, Kari and James, and her sister, Madelyn, for the 31st annual conference of the Support Organization for Trisomy 18, 13 and Related Disorders, or SOFT.
Nearly 100 families from across the US and Canada are expected to attend this year’s SOFT conference.
Set up in 1980, SOFT provides “support and understanding to families…surrounding the diagnosis and care in trisomy 18, 13 and other related chromosomal disorders.”
Leila has trisomy 18. Most of us have two copies of each of our 23 chromosomes – one set inherited from our father, the other from our mother – in our cells. Leila’s cells, however, have three copies of chromosome 18, which can lead to high incidences of infant mortality and medical complications, like congenital heart problems and developmental challenges.
The most well-known trisomy is probably trisomy 21 or Down syndrome, which affects about one in 700 live births in the US. Trisomy 18, trisomy 13, and related disorders are all much rarer – trisomy 18, for instance, occurs about once every 7,000 live births in the US. Their relative rarity can make it difficult for patient families to access effective medical care and meet other families facing similar challenges.
SOFT conferences try to address these challenges by connecting parents and families of children diagnosed with these genetic conditions and partnering with various medical centers and health care professionals, says John Carey, professor and vice chair of academic affairs in the Department of Pediatrics at the University of Utah, and a co-founder of SOFT.
“The conference is designed to provide support and information for families who are going through the unique challenges of having a child with a SOFT disorder,” he says.
The clinical aspect of this year’s conference takes place at the Waisman Center at the University of Wisconsin-Madison, in partnership with UW Health and the American Family Children’s Hospital. The Waisman Center has 11 specialty clinics and a long history of research as well as providing care and services to individuals with developmental challenges. Clinicians, including cardiologists, neurologists, geneticists, and developmental pediatricians will volunteer their time to meet with the families and offer suggestions and ideas.
“It’s fantastic to be able to speak with specialists, maybe get a second opinion, and discuss different treatment options for Leila,” says Kari.
In addition to the free “clinics”, the conference is also an opportunity for families who understand our journey,” says James. “We can walk into a room, and Leila’s medical equipment could start beeping, and people won’t look at her like she was going to explode.”
“We met complete strangers but there were no barriers because of the common element of having a child with a trisomy,” says Kari. The families attending the conference are all looking for support and connections, but they may be at different stages of their journey, she says. “Some of them are pregnant, while others may have lost their child, but they all find a lot of comfort and healing when they meet other families and children.”
For the Adamsons, “it’s very exciting to see the older kids, and also fun to snuggle the young babies because we get to see how far Leila has come,” says Kari.
And Leila has come a long way. “She likes to jump and spin, she likes to spend time in her little sensory room with lights, and she loves her cartoons,” says James. At the mention of cartoons, Leila, who is non-verbal, gives a squeal of delight. Her joy is evident.
Leila’s three siblings have been her constant companions and friends, and there are sessions and activities at the SOFT conference geared toward siblings of SOFT patients. “When you have a special-needs child, your family’s life is different,” says James. “I think for our two older kids who have attended the SOFT conferences with us, it has been a great opportunity to be there for their sister but also forge close bonds with the siblings of other trisomy patients.”
The conference also includes several other sessions, such as workshops on the legal aspects of special-needs trusts and guardianship, CPR training, and communication using iPads and computers.
Carey is proud that the conference combines social, medical and informational support, which are all core elements of SOFT’s mission. “Ultimately, it’s all about the patients and their families, and I am not sure there has been anything in my career that has been as inspirational and as true to the core tenets of being a doctor as the privilege of being a part of SOFT,” he says.
Adityarup “Rup” Chakravorty, Waisman Communications