Our daughter Bailey was diagnosed with a Rare #ChromosomeDisorder, she has additional Chromosome material on Chromosome 15. She is #Tetrasomic 15q11.2-15
q13.2 and Trisomic 15q13.2 -15q13.3 Bailey was born via C section at 36 weeks, the pregnancy was good and without any issues aside from the fact that she was Frank Breech so not much movement in utero. Her #Apgar scores at birth were normal. There were no signs at birth that anything was awry until we started having suspicions when she was not reaching her milestones at around 14 months, she did not seem to react to noises and was a quiet baby. After an initial Neuro appointment, we were referred for genetic testing which revealed a Chromosome Disorder. We had already intervened with some therapies and by 18 months she was attending Physio, #Speech and Occupational Therapy every week.
The beginning was tough as you feel so isolated as parents with all these extra interventions but we were referred to an organization in the UK called UNIQUE who were a lifeline for us at the time. We immediately signed up as members and eventually became the representatives for them here in South Africa. They were able
to give us info on Baileys Disorder and network us with other families affected by the same Disorder around the world. Bailey showed progress throughout her Therapy sessions, we however never thought she would walk, she had stiff legs and a very wide gait and only started walking around the age of 3. She now runs and can climb jungle gyms like a monkey and has incredible core strength.
She has a very high pain threshold and is quite fearless. She was quite a sickly baby suffering from frequent ear and upper respiratory infections, grommets had to be inserted twice and we eventually lost count of the courses of Antibiotics received. Her #Immunoglobulin levels were tested at around 5 years and she started with Immunoglobulin infusions which assisted her body’s immune system and she is now able to fight infection with a lot more ease. She was diagnosed with Seizure activity
during her sleep and has been on Seizure meds for the past 5 years which they hope to start weaning her off if her next EEG is clear. She is currently 9 years old, can not talk fluently but has enough speech to communicate.
She attends a Special Needs School who teach her using the ABA method which has proven to be successful thus far. She has all her Therapies at school and in addition does Equine Therapy and Swims once a week. We integrate her as much as possible in
everything that we do as a family so that the outside world is not foreign to her as she grows up. We are not sure what the future holds but we live in hope that her language improves and that we can provide her with the necessary skills to be self sufficient later in life. Her favorite pastimes are to copy animal sounds, loves water play, winter or summer, loves to chase her sister around the garden, play with the leaves and the sand and knows how to give the BEST hugs. She truly is a gem in our box of life’s jewels.