A day in the life: living with Bardet-Biedl syndrome—Tessa’s story
Written by Veronica Arvidson
Diagnosis
When our 11-year-old daughter, Tessa, was born we saw early on signs that she may have a genetic condition. She was born with extra digits on each of her hands and feet. She began gaining weight rapidly as an infant and she was not meeting any milestones like crawling, walking or talking on time. All the above symptoms led us to seek genetic testing for a variety of genetic syndromes. When she was just a year old the test came back that Tessa had two mutations (changes) in her BBS2 gene, and she was then diagnosed with Bardet-Biedl syndrome (BBS).
BBS is a rare syndrome with 1 in 250,000 people born with BBS in the world, and about 3,000 people in the United States.1
BBS can affect a wide variety of things in the body including: visual impairment (blindness) caused by retinal abnormalities; obesity, typically apparent by age one; polydactyly (extra fingers or toes); kidney malformations (which can lead to needing a transplant); heart issues; balance issues; learning disabilities; diabetes; constant hunger; developmental delays; behavioural problems; neurological problems; high blood pressure; speech disorders; dental anomalies; lack of a sense of smell; flat, wide feet; no arches, thyroid problems; strabismus (lazy eye); short stature relative to parents’ height.1
Of those symptoms, currently, Tessa suffers from 13 symptoms so far, at just 11 years old, and we just don’t know if or when she may suffer more.
Learning our new normal
As BBS is a rare syndrome, and being it was 10 years ago, we had to do our own research on what this diagnosis entailed for our baby girl as the doctors we saw early on had not even experienced anyone with the syndrome before, and that scared us even more. We had no idea which type of doctors she needed to see, what her life may look like, or even what our next steps should be.
Over the few years following Tessa’s diagnosis, we found a family support group on social media and got Tessa early interventions in preschool and elementary school and got her on an individualised education program (IEP), which made a significant impact on her life. In the last few years, we found and started attending annually the only clinic in the US that specialises in BBS, located in Marshfield, Wisconsin, and there we have been fortunate to be able to see doctors who are well-versed in BBS, which has led us to learn so many things about BBS.
Our life today
Our everyday life is far from typical, and you never know from day to day what to expect. So, you learn quickly to become easy-going. We have a plethora of appointments that Tessa needs to attend on a regular basis, including for physical therapy (PT) and occupational therapy (OT); mobility and Braille; speech and language; cardiology; nephrology; behavioural therapy; endocrinology; orthopaedics; ophthalmology; along with visits to her primary doctor.
The main hardship that affects our family and Tessa is that she is slowly losing her vision. It will continue to go slowly until it is gone. As parents the hardest thing is watching your child’s world slowly get dark as she loses her sight, and she is not always able to see our faces.
We are trying to give her as many visual memories as we can before it is completely gone. She has constant hunger that she needs a daily injection to manage, and she struggles with learning and behaviourally. Her IQ is lower than her peers so making friends in school is very hard for her. We as a family help Tessa manage all her appointments, medications, therapies, and so on.
Being parents to a child with a rare syndrome has been one of the hardest but also most rewarding things I have ever done in my life. When you get a diagnosis for your child, the stages of grief you go through are life-long and can be scary and lonely. I am glad now with where social media is at, we can connect with families all over the world who have children with BBS. It helps the days feel less alone and you have this support system that understands what you’re going through.
Tessa is the happiest, most caring and loving child. Her favourite thing to do is sing; it brings her joy and comfort. She has been in singing lessons for six years and has performed for the last five years at our local telethon that raises money for our community.
There is no cure for BBS. Our main goal is to give her the best quality of life she can have. She may not be able to ever leave our home and ever live on her own, drive a car or be fully independent from my husband and me.
My goal as a mother of a special needs child is to be an advocate for her, be everything she needs me to be, to bring light to her rare syndrome and be a voice for other families who are scared or struggling with their diagnosis. This year I am looking forward to becoming more involved with the BBS Foundation in helping upper Mid-West diagnosed families and provide the support that they need.
Editor’s note: Please get in touch if you would like to share your own “a day in the life” piece: hello@rarerevolutionmagazine.com
