Amy was born on the 20th of March 1998. Amy arrived 10 days early with no visible problems. Her head seemed out of proportion with her body, but the doctor wasn't concerned about it. At the start, I fed Amy myself, but Amy didn't appear to be taking much so we stayed in the hospital for about a week. Amy was losing weight, and by 10 days old, the midwife was concerned and went off to her friends one Sunday night to get some formula. Amy was reluctant to drink formula too, and was fed every 4 hours, but each feed took about an hour and a half to two hours. Amy never finished a bottle and by the end of the feed had only consumed about 3 or 4 ounces. This went on for 15 months. Amy was and still is hypotonic and was unable to sit or hold her head up unaided. Amy also appeared to be having some sort of reaction to most of the solid food offered, i.e., rash, tummy upset and a change in behavior after eating. She would often become distressed.
At 15 months, Amy's Gastroenterologist suggested Neocate and a milk-free diet. Amy had her first bottle in the hospital and downed it in a oner! From there, her mobility started to improve quickly, she was sitting unaided and holding her head up, which progressed to crawling and pulling herself up. Amy was having weekly physio sessions at the time, before and after.
Amy was diagnosed with allergic Enteropathy around the same time. It was difficult to pick out what was fine to eat and what wasn't. It became obvious that some foods caused behavioral issues afterwards; milk had been the worst. Looking back, I think this was seizure activity and possibly pain.
Amy went on to have lots of testing over the years.
She has had an ongoing problem with food and drinking, and as she's gotten older, is more reluctant to eat or drink. She will go months without eating and hasn't drunk for about 3 years. Before Gastrostomy was fitted, Amy would go 8 or 9 weeks of eating and drinking just enough to get by then 4 or 5 days of taking nothing orally. It became a cycle and Amy would need to be in the hospital on a drip, her blood sugar would be very low, and she would be in ketosis. Amy would be seizure free at these times. It looked like some kind of detox. Amy is now on Elemental 028.
Amy had a spell of chronic fatigue that lasted about a year and a half when she was younger; then it just stopped. She would sleep as soon as she sat down, up to about 20 hours a day. I had taken her to a homeopath but that may have been just coincidence, I don't know.
Amy has Focal Epilepsy, sometimes spreading to Tonic Clonic. It started with Absence Seizures at about 18 months (could have been a bit before that), but they presented like day dreaming. Amy mostly then had Tonic Clonic seizures, often for a prolonged amount of time. Amy had years of mostly Partial Seizures, and now, more recently, its Tonic seizures, sometimes spreading to Tonic Clonic. Her last EEG recorded seizure activity all night with 21 waken episodes that were Tonic seizures. Amy has had two 3-month sessions of Immunoglobulin Therapy to see if it would help her Epilepsy. The first one worked quite well for a while; the next one didn't.
At present, Amy takes Perampenal, Lamtogine and Clobazam for her Epilepsy. The Perampenal has, unless it a coincidence, stopped the day time sleeping. There is usually an improvement at the start of new medication for her Epilepsy, but it's sadly short-lived.
Amy has very little in the way of verbal communication, but when she has a virus, she's much better, i.e., calmer, focused, seizure-free, able to walk with less support, appropriate use of language (usually one or two words. When Amy has an infection, her Epilepsy is worse.
Amy's symptoms recorded over the years are:
Amy is very sociable and enjoys the company of others, and thrives on being taken out her usual routine. She is a happy, cheerful, sociable person who usually has a smile for everyone.
At 15 months, Amy's Gastroenterologist suggested Neocate and a milk-free diet. Amy had her first bottle in the hospital and downed it in a oner! From there, her mobility started to improve quickly, she was sitting unaided and holding her head up, which progressed to crawling and pulling herself up. Amy was having weekly physio sessions at the time, before and after.
Amy was diagnosed with allergic Enteropathy around the same time. It was difficult to pick out what was fine to eat and what wasn't. It became obvious that some foods caused behavioral issues afterwards; milk had been the worst. Looking back, I think this was seizure activity and possibly pain.
Amy went on to have lots of testing over the years.
She has had an ongoing problem with food and drinking, and as she's gotten older, is more reluctant to eat or drink. She will go months without eating and hasn't drunk for about 3 years. Before Gastrostomy was fitted, Amy would go 8 or 9 weeks of eating and drinking just enough to get by then 4 or 5 days of taking nothing orally. It became a cycle and Amy would need to be in the hospital on a drip, her blood sugar would be very low, and she would be in ketosis. Amy would be seizure free at these times. It looked like some kind of detox. Amy is now on Elemental 028.
Amy had a spell of chronic fatigue that lasted about a year and a half when she was younger; then it just stopped. She would sleep as soon as she sat down, up to about 20 hours a day. I had taken her to a homeopath but that may have been just coincidence, I don't know.
Amy has Focal Epilepsy, sometimes spreading to Tonic Clonic. It started with Absence Seizures at about 18 months (could have been a bit before that), but they presented like day dreaming. Amy mostly then had Tonic Clonic seizures, often for a prolonged amount of time. Amy had years of mostly Partial Seizures, and now, more recently, its Tonic seizures, sometimes spreading to Tonic Clonic. Her last EEG recorded seizure activity all night with 21 waken episodes that were Tonic seizures. Amy has had two 3-month sessions of Immunoglobulin Therapy to see if it would help her Epilepsy. The first one worked quite well for a while; the next one didn't.
At present, Amy takes Perampenal, Lamtogine and Clobazam for her Epilepsy. The Perampenal has, unless it a coincidence, stopped the day time sleeping. There is usually an improvement at the start of new medication for her Epilepsy, but it's sadly short-lived.
Amy has very little in the way of verbal communication, but when she has a virus, she's much better, i.e., calmer, focused, seizure-free, able to walk with less support, appropriate use of language (usually one or two words. When Amy has an infection, her Epilepsy is worse.
Amy's symptoms recorded over the years are:
- Severe learning difficulties (Amy has a good understanding, I think)
- Seizure disorder
- Macrocephaly
- Behavior difficulties (I think seizure activity)
- Dietary restrictions
- Allergic Enteropathy
- Allergies - Amy's lips swell with any type of antihistamines although it does help with allergic reactions
- Adrenarche
- Accelerated bone age (two and a half years when she was younger; it's all come good now)
- Autistic features - this is more about cycles of wanting to do the same thing during play. Amy appears quite into certain things for a while then it goes. This includes grass, water, helium balloons, balls; she can become completely focused on these things.
- Nephrocalcinosis and episodic Frank Haematuria
- Amy has spells, sometimes quite prolonged, of appearing not well, and often we don't know what's causing it. During these times, she gets upset (may be pain, but she has a high pain threshold); she can self-harm; becomes withdrawn, sad and tired; and doesn't eat at all. She can become very pale and have cold feet and hands, even though the rest of her body is hot. Lorazepam is administered because its so violent and out of character. Some antibiotics stop it, but no infection is ever found.
Amy is very sociable and enjoys the company of others, and thrives on being taken out her usual routine. She is a happy, cheerful, sociable person who usually has a smile for everyone.