neil_patmore
02-19-2009, 09:12 AM
Hi I'm new here and would like to tell you about my daughter Sophie:
Sophie was born a healthy newborn baby and developed completely normally for her first few months. At about 3 months of age she became chesty, we took her to the doctor who said she had a virus and would recover. She did not recover and after a couple more visits to the GP, she was admitted to A&E for observations due to a worsening stridor when she breathed. Over the space of 4 days she became very floppy and was transferred to St Georges hospital in tooting where she underwent an array of tests to try and determine the cause. We were in hospital for 12 weeks when Sophie started showing signs of recovery, we were discharged with oxygen and an NG tube whilst we waited for the investigation results.
We had been home for 6 weeks when two days before Christmas ‘07 Sophie’s NG tube split. We took her to the local hospital to have it changed and during the process, Sophie suffered a Cardio Respiratory arrest. She was intubated and transferred back to St Georges PICU. Further tests were carried out to determine the cause of Sophie’s floppiness during which time Sophie failed extubation 3 times. A muscle biopsy was performed and whilst we waited for the results Sophie was also given a tracheotomy.
6 weeks later the muscle biopsy results returned. We were told that Sophie had a vacuolar myopathy with lipid storage and that all her mitochondrial enzymes were severely deficient and her prognosis was extremely poor. We were told that had these results been available before the tracheotomy was performed, the hospital would never have performed the operation, Sophie would have been extubated, inevitably ending with her passing away. We was also told that now Sophie had a tracheostomy and would require long term ventilation, it would take up to 12 months to be discharged from hospital due to the complex care needs.
My wife and I agreed that we did not want Sophie to spend whatever time she had left in PICU and so we contacted CHASE, our local children’s hospice and 2 weeks later we were transferred there for transitional care and training. CHASE did a fantastic job and managed to get us home within 8 weeks. We have been home for nearly a year now!
Sophie is now 20 months old and for the most part is a happy, playful and intelligent little girl. She is still very floppy and is permanently connected to her vent. She cannot speak, swallow and suffers from autonomic issues but she knows what she wants and how to get it - above all else, she is adorable.
Tests are ongoing to establish the cause of Sophie’s problems. It’s agreed she has a mitochondrial disease but it’s still to be determined if that is primary or secondary to something else.
Sorry for the long post!
All the best,
Neil.
www.thesophiestory.co.uk (http://www.thesophiestory.co.uk)
Sophie was born a healthy newborn baby and developed completely normally for her first few months. At about 3 months of age she became chesty, we took her to the doctor who said she had a virus and would recover. She did not recover and after a couple more visits to the GP, she was admitted to A&E for observations due to a worsening stridor when she breathed. Over the space of 4 days she became very floppy and was transferred to St Georges hospital in tooting where she underwent an array of tests to try and determine the cause. We were in hospital for 12 weeks when Sophie started showing signs of recovery, we were discharged with oxygen and an NG tube whilst we waited for the investigation results.
We had been home for 6 weeks when two days before Christmas ‘07 Sophie’s NG tube split. We took her to the local hospital to have it changed and during the process, Sophie suffered a Cardio Respiratory arrest. She was intubated and transferred back to St Georges PICU. Further tests were carried out to determine the cause of Sophie’s floppiness during which time Sophie failed extubation 3 times. A muscle biopsy was performed and whilst we waited for the results Sophie was also given a tracheotomy.
6 weeks later the muscle biopsy results returned. We were told that Sophie had a vacuolar myopathy with lipid storage and that all her mitochondrial enzymes were severely deficient and her prognosis was extremely poor. We were told that had these results been available before the tracheotomy was performed, the hospital would never have performed the operation, Sophie would have been extubated, inevitably ending with her passing away. We was also told that now Sophie had a tracheostomy and would require long term ventilation, it would take up to 12 months to be discharged from hospital due to the complex care needs.
My wife and I agreed that we did not want Sophie to spend whatever time she had left in PICU and so we contacted CHASE, our local children’s hospice and 2 weeks later we were transferred there for transitional care and training. CHASE did a fantastic job and managed to get us home within 8 weeks. We have been home for nearly a year now!
Sophie is now 20 months old and for the most part is a happy, playful and intelligent little girl. She is still very floppy and is permanently connected to her vent. She cannot speak, swallow and suffers from autonomic issues but she knows what she wants and how to get it - above all else, she is adorable.
Tests are ongoing to establish the cause of Sophie’s problems. It’s agreed she has a mitochondrial disease but it’s still to be determined if that is primary or secondary to something else.
Sorry for the long post!
All the best,
Neil.
www.thesophiestory.co.uk (http://www.thesophiestory.co.uk)