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 the 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 intercultural 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.

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 “The 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 the 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.

Liv loves to swim and to play with, be near water, but nothing beats being in the water for her. Liv thrives in the outdoors and is out in all weathers always with a big smile on her face. When she is outside, she likes to be in the woods, jump  on the trampoline, swing, dig in sand or soil and ride a bike. Indoors, she currently likes to sit and create and play with things like loombands, pearls or stickers. She also likes to play simple games and watch movies on the iPad or TV. Liv also likes to fish for crab, ride a motorboat, ride a roller coaster and ski. We have found adapted leisure activities in the local area: riding and swimming, which Liv really enjoys, and it is also good for her development.

Liv is a girl who is usually happy and who loves mischief and anything that is a bit crazy and exciting. Liv is resourceful and knows what she wants. She often finds ways to make people surrounding her understand her and what she wants to do. She is social and likes to interact with people she meets. Liv has a big heart and wants everyone to feel included.