This was sent to us by Jennifer, mother of 17-month-old Edith, who was recently diagnosed with BBSOAS. Jennifer and her husband Tim also have an older daughter Alice, who is 3 ½ years old. This is their story, in Jennifer’s own words.
Background to Edith being diagnosed
Pretty quickly after Edith was born, we started to notice things weren’t quite the same as they had been with our eldest. Edith was holding her head at an incredibly strange angle when lying down, was having trouble swallowing and with silent reflux. At 5 weeks the pediatrician referred us for physiotherapy (physical therapy) to help with her neck, and from there, as the weeks passed and she wasn’t gaining strength to hold her head or push herself up on her arms, we began to worry more.
Next came her eyesight. Edith didn’t smile and it was as if she couldn’t find us. She didn’t have the ability to focus her sight, and at 16 weeks the ophthalmologist prescribed her (pink!) glasses. This helped so so much. After a period of adjustment, she started to smile at us and could definitely see us. This felt like such a relief, and of course, joy!
Progressively over the course of weeks/months Edith missed milestones. She was confirmed as suffering from hypotonia and hyper mobility and we just knew something wasn’t quite right. We were referred to an absolutely wonderful neurologist at 5 months and from there we spent the next 7 months undergoing lots and lots of tests. Finally, she decided we should do genetic exome sequencing, and it was 2 weeks after Edith’s first birthday that she was diagnosed with BBSOAS.
The diagnosis was of course a brutal blow to us as parents. While we were worried something wasn’t right, we hadn’t let ourselves believe it. Suddenly being faced with a diagnosis, but because of its rarity none of our doctors have had a case, it felt like little answers to our big worries.
We quickly found the Foundation and were so fortunate that the 2022 NR2F1 Family and Scientific Conference in Orlando was within a few days’ time.
Following Edith’s diagnosis, we moved quickly to get her setup with more regular therapies. On a weekly basis Edith has physio/PT and occupational therapy. Edith doesn’t make a great deal of noise, so we have speech therapy every month, but mostly at this point we are just working on eliciting noises in response to cause and effect.
In addition to therapies, she has her specialist appointments with the neurologist, ophthalmologist, ENT (for hearing) and pediatrician. In September we also start at a children’s center for children with disabilities in London, in a weekly 2 hour multi-disciplinary/therapy session.
Edith doesn’t crawl properly yet, but she does an excellent ‘worm’ to get to where she wants to be! We’ve just been fitted for AFOs, so are hoping we can start to encourage some standing soon. Her hypotonia, coupled with extensive hyper mobility, are definitely a challenge. Our fears are not knowing to what extent she will be able to walk and talk.
As parents, Tim and I are both very action orientated people, and suddenly not having the answers to help or just knowing how to emotionally process it all is tough. Quite honestly that’s why Tim has got so active with fundraising. We need to feel like we are doing whatever we can to help Edith, and other BBSOAS friends out there.
As a Mum I extended my maternity leave (thankfully the UK are generous with leave) and have dropped down to part-time work as a Project Manager at a bank. To juggle appointments but also maintain a little piece of myself, this seemed like the best approach when I went back, but it remains a work in progress as we adapt and get used to what our family needs – including making sure we give enough time to just being a family and to our eldest daughter as well.
Edith is an adorable little girl. She didn’t react to Alice, her big sister for a long time, but once she did start to acknowledge her, she quickly became her favorite person and now adores Alice. Alice can get the best laughs from her! While Edith doesn’t make much noise, she has become a prolific waver! She looks at someone and waves and waits for someone to recognize and tell the person she is looking at. Then once they acknowledge her, she gives the best smile back.
As a family we are learning Makaton sign language. While she can’t do any signs herself yet, she now recognizes water, snack/food, and more. It’s really encouraging and is fun as a family as Alice gets really involved in wanting to learn different signs for things.
Carlie is the President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.