Liv’s Story
Welcome! Meet our family: Camilla, Henrik, Liv (10 years old), and Ida. We live in Sweden outside Gothenburg.
In the autumn of 2019, we learned that Liv has the gene mutation MAPK8IP3—which is the reason why Liv is Liv and has the challenges, but also the unique resources, to be who she is.
When Liv was about 6 months old, we started to get concerned about her development. On several occasions we asked about her development at the childcare center but always got the answer that children are different and develop differently. No one involved understood or confirmed what we as parents saw and felt.
When Liv was 1.5 years old, the doctor referred us to a specialist clinic for pediatrics for an investigation of delayed development. They in turn passed us on to the pediatric neurologist. This is where our journey to find the cause of Liv’s delayed development began.
Over the next 3 years, Liv underwent many different examinations, including a genetic test, but no cause for her development delay could be found. In the spring of 2015, she was diagnosed with a mild intellectual disability, which was later adjusted to a moderate intellectual disability. For us as a family, it was difficult and sad to accept that Liv was not “just” late in her development. In 2016, Liv was also diagnosed with ADHD.
Liv loves to swim and play with or be near water, but nothing beats being in the water for her. She thrives outdoors in all weather, always with a big smile. Outside, she enjoys the woods, jumping on the trampoline, swinging, digging in sand or soil, and riding a bike. Indoors, she likes creating and playing with loombands, beads, or stickers. She also enjoys simple games and watching movies on her iPad or TV.
Liv also likes crab fishing, riding a motorboat, roller coasters, and skiing. We have found adapted leisure activities in our local area, including riding and swimming, which Liv really enjoys and which also support her development.
Liv is usually happy and loves mischief and anything a bit crazy or exciting. She is resourceful and knows what she wants. She often finds ways to help people understand her and what she wants to do. Liv is social and enjoys interacting with people she meets. She has a big heart and wants everyone to feel included.
Our desire to know the cause of Liv’s diagnoses and difficulties made us continue to seek answers. In 2019, a new genetic study was performed. This time it gave us answers. It showed that Liv had a de novo variant of the MAPK8IP3 gene. It felt unreal to finally get an answer and know the reason. Of course, we googled the gene and found a fairly recently published article, “De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.” Through it we got in touch with other families, which is incredibly valuable.
Liv has moderate intellectual disability, microcephaly, thin corpus callosum, impaired balance, motor limitations—both fine and gross motor—impaired oral motor skills, and difficulty speaking. We use signs to support communication and a picture program on her iPad.
One of our family’s big challenges is Liv’s sleep. Liv has only slept a few whole nights since she was born. Currently, she wakes up about 2–3 times a night despite medication for sleep and a weighted blanket.
