Ruby’s Journey Part 1

Hypopituitarism

Ruby’s story with Hypopituitarism – by her mum, Marla.

Ruby is a wild, adventurous, sweet, fun-loving 4-year-old girl who also happens to have a condition called congenital Hypopituitarism.

Ruby’s journey to diagnosis was difficult, she had stopped growing in utero at 37 weeks and was delivered urgently. Then just twelve hours after birth, she wasn’t feeding normally, and it was soon discovered that she was hypoglycaemic. Within moments, paediatricians and nurses swarmed the room, rushing her to the special care nursery, where she spent the next five days being monitored.

Ruby improved enough to go home, yet her symptoms persisted. She continued to become increasingly tired and wasn’t feeding well and we returned to hospital many times to be told she was ok and that we were most likely just nervous as first-time parents after our initial experience. Then at 5 weeks old we took her to the GP who took one look at Ruby and called the hospital right away, she was lethargic, still jaundiced and becoming very dehydrated.

Following a long and stressful wait in emergency, Ruby was admitted under the Paediatric Endocrine team, and extensive testing began. She was so unwell at that point that she didn’t even cry during the many blood tests, stimulation tests, heel pricks, or the MRI.

Her diagnosis of Hypopituitarism, caused by an ectopic posterior pituitary, was a pivotal moment. We had a wonderful Endocrine Nurse who explained the ‘Hormones and Me’ booklets to us and talked us through the various medications Ruby would require, as well as her emergency management plan. The implications of the diagnosis for her present and future were overwhelming to say the least.

Ruby started on cortisol and thyroid hormone replacement medications immediately and the difference in her was instant and amazing, she really came to life! It was beautiful to see her smiling, awake and feeding!! It felt like we were meeting her for the first time. At 18 months old Ruby started on growth hormone which was another huge adjustment. However, the benefits were quickly apparent, not just in terms of her growth. She had more energy, slept better, and began growing!

Apart from times of illness when she needs increased cortisol medication, we have settled into a new normal and have been able to enjoy our baby girl and watch her cheeky personality emerge. Initially, when Ruby was diagnosed, we feared there was no hope for improvement. But now, 4 years on, seeing her as a happy, adventurous little girl, so full of life, we are overwhelmed with happiness and hold so much hope for her future.

Today, as Ruby’s fourth Christmas approaches, we reflect on her incredible journey. She has grown from a tiny, vulnerable newborn in a hospital bed to a spirited and joyful child. Her laughter fills our home, and her infectious smile and energy is a testament to her resilience.

Find out more about Ruby’s Journey in Part 2 of her story.