Thanks for taking the time to visit our JustGiving page in honour of our daughter Amalia who was recently diagnosed with Growth Hormone Deficiency.  We are raising money for the Child Growth Foundation which supports children and their families affected by rare growth conditions. 

Amalia was born in October 2019, a healthy baby in the 50th percentile in weight and height. During her first year she was happy and hitting most milestones but over the course of 2020, her height and weight slowly dropped down the charts. On her first birthday, she measured in the 4th percentile while at the same age, her older brothers were in the 75th.  When we brought this up with her doctor we were dismissed and told, 'Don't compare Amalia to your sons. Girls are different.'  Still, Amalia wasn’t crawling or walking so we were referred to a physio therapist.  Amalia would cry inconsolably during the physio appointments. It felt as though we were torturing her. The physio told us that Amalia was strong and capable, 'just lazy'.  

In December we still felt something wasn’t right and saw several paediatricians. The doctors seemed baffled but reassured us that all of her blood tests were normal, she would just be small.  We desperately wanted to believe this but had an inkling something was wrong.  By January of 2021, at 16 months, Amalia had fallen off the charts in height and weight and still wasn't crawling. We were referred to a nutritionist.  The nutritionist gave us terrible advice.  She suggested we feed Amalia cheerios for breakfast and add Nestle chocolate powder to her milk at night.  We ignored that advice but increased Amalia's calories.  Adding calories to her diet didn’t help her gain weight or grow any taller so we began Google Medicine - Turner Syndrome? Kidney disease? Dwarfism?  Nothing seemed to fit but no one could tell us what was wrong.

In February, an injury turned into a blessing.  Amalia had a minor fall and fractured her femur.  A fracture seemed strange for such a small fall.  We were finally able to raise the alarm and our paediatrician began to take us seriously.  He mentioned that Amalia might have a rare genetic disease and ordered more blood tests and a full body x-ray.   All came back normal, but sleepless nights and daily research ensued. We pushed to see an endocrinologist.  At this point Amalia was 4 standard deviations below the bottom of the growth chart. The endocrinologist was the first doctor to acknowledge our concerns, but thought that her growth was probably just delayed. He recommended we wait 6 months and evaluate Amalia’s growth over time.  We politely disagreed.

We were lucky to stumble across the Child Growth Foundation website and started to suspect that Amalia could have a growth disease. After speaking to a friend in Italy whose son has a growth condition, she recommended that we see Professor Mehul Dattani at Great Ormond Street Hospital for Children. During our first appointment, Professor Dattani was compassionate and thoughtful.  He suspected a growth hormone issue and organised a Glucagon Stimulation Test to measure the amount of growth hormone produced by Amalia's pituitary gland. This test and a subsequent MRI confirmed her diagnosis of severe Growth Hormone Deficiency. The MRI shows that Amalia is missing the posterior part of her pituitary gland and has a very small anterior pituitary, the brain's control center for all of her hormones.  Over time, other hormones may fail and need to be replaced.  Though this was not news most parents would welcome, for once, we felt monumental relief.  Finally we had an answer!

In May of 2021, Amalia started daily growth hormone injections and she has transformed.  We have seen major changes in Amalia's appetite, coordination and strength. Growth hormone affects everything from metabolism and bone density to muscle development. Though tiny, Amalia is now back on the charts for height and weight. She began to crawl just two weeks after starting growth hormone treatment.  We are told that she will reach a normal adult height and we were thrilled to see her take her first steps a few days after turning two.  We are so grateful to God that we found Amalia’s incredible doctors and have access to modern hormone treatment.  Amalia surprises us daily and surprises most strangers when she speaks in full sentences.  This is usually followed by wide eyes and, 'How old is your baby?'

This Christmas, we are raising money for continued research and funding for growth conditions in children. There are countless children across the world without access to life-changing growth medicines and most doctors are not aware of growth diseases.  Please consider donating a small amount to change the lives of these children and their families.

Thank you for all of your support.  Have a Merry Christmas!