A wee bit of heaven drifted down from above, a handful of happiness and a heart full of love........
Author: Helen Steiner Rice
Author: Helen Steiner Rice
our journey with jess
After two years of battling to fall pregnant, we were delighted at the thought of having a daughter. Our angel, Jessica, was born 23 May 2006.
She was perfect and more beautiful than we could ever have imagined!
At six months, we were referred to a Physiotherapist for an assessment as Jess was not lifting her head as a baby of her age should. We were advised that Jess had Hypotonia (low muscle tone) and that she would require on going therapy. And so her physiotherapy and occupational therapies began.
There are many underlying conditions or syndromes associated with low muscle tone. Therefore, when Jess was around 9 months old, we were referred to a Neurodevelopmental specialist to determine what that condition may be.
Over the following months, Jess underwent numerous blood and urine tests, a CT Scan, EEG and MRI which all came back abnormal.
Jess was a generally content baby however, developmentally delayed, she was not reaching her milestones as she should. She started having Infantile Spasms; a form of seizure which we treated with anti-epileptic medication for a short time but we were advised by the specialist to wean her off it as it would interfere with the metabolic disorder testing that we were going to do.
When Jess was around one year, she was diagnosed with a condition called Hawkinsinuria. This is an amino acid deficiency where the body doesn't break down protein properly, instead it stores it and becomes toxic. We commenced treatment for this condition which meant a low protein diet where every meal needed to be calculated according to her daily protein allowance. We also had to start a series of supplements to make up for the certain vitamins and minerals that she would be lacking due to her new diet. Thankfully, Jess took well to being vegetarian.
Jess started nursery school at the beginning of 2010. She was in a special needs class which is incorporated within a mainstream school. She adapted well to this change and was known and loved by all the kids and teachers at her school.
The principal of the school referred us to a neurologist as by this time Jess was suffering from more intense, frequent seizures where she would scream, hold her breath and go blue in the face then fall asleep. We started her on anti-epileptic medication again which reduced the frequency and severity of the seizures. She still had a number of small seizures throughout the day which we called 'frights' and the occasional Infantile Spasm.
Jess started attending speech therapy at the school. She is very vocal however cannot say any words as yet. She babbles and laughs a lot. The therapist informed us that therapy would be a lengthy process with an uncertain outcome. Although Jess may never be able to speak, we may be able to get her to communicate with us in some way.
In 2011, we were referred to a specialist Paediatrician who ran another series of blood and urine tests, only to discover that Jess had been misdiagnosed with Hawkinsinuria. This professor advised us that after the extensive biochemistry tests that he had performed which had all come back negative, that Jess's condition must be genetic. So toward the end of 2011, we took Jess to the Geneticist who reconfirmed that we were misdiagnosed initially. We started slowly introducing protein back into Jess's diet and she was placed on a low GI diet to try and assist further with seizure control. During consultation, Jess's characteristics, behaviour, anomalies etc. were noted and then the Geneticist met up with a multi disciplinary committee to discuss possible syndromes. It was recommended that we do a MLPA chromosome test which screens for any duplication/deletion mutations and for Rhett Syndrome as Jess is very fascinated with her hands; which is apparently a common trait for this syndrome as well as Angelman Syndrome. Thanks to the funding received via this site, we were able to have all three of these tests performed which came back negative.
The Geneticist then advised that we send samples of Jess's blood to the Salisbury District Hospital in the UK for further chromosomal testing as their testing is far more advanced than ours in South Africa.
Finally, after six years of testing, we received a positive diagnosis. At this stage all we wanted was a name for Jess's condition and confirmation if there was any treatment available.
In December 2011, Jess's epilepsy took a turn for the worse. She would spend most of the day in a daze with no recognition of what was going on around her. Her Paediatrician was concerned that either she was having numerous small seizures that we weren't picking up or she was not coming out of a seizure properly when she had one. She had another EEG done and started a second anti-epileptic drug.
By February 2012, we had seen little change in Jess and decided to investigate the Ketogenic Diet. This is a high fat, extremely low carbohydrate diet. We made contact with a dietician in Cape Town and within a few weeks we had made it down there and Jess was admitted to hospital to start her off on the diet. Children are admitted to hospital when starting on the Ketogenic Diet as they are put into a 'state of starvation' by means of a specialised formula and this needs to be monitored. We were ecstatic, Jess went 21 days seizure free from inception of the diet!!
In the middle of 2012, we made the decision to take Jess out of school as she needs one on one attention and her therapies need to be carried out over the whole day. We found a wonderful care giver that looks after Jess during the week. She attends all therapy sessions with Jess and follows a roster throughout the week which include her exercises and play time.
Jess can sit however she does not know how to lie back down when she gets tired so she cannot be left sitting alone as she throws herself back. She does not crawl or walk as yet however she has a standing frame which she uses daily along with knee immobilizers to keep her legs straight when standing. She also wears splints throughout the day. Jess cannot feed herself and everything needs to be pureed as she cannot chew as yet. She is also tactile defensive which means that she doesn't handle different textures or sensations too well. Brushing her hair is a terrible ordeal for her every morning. We do have a sensory brush that we use on her to try and help her manage these activities and different textures better. Due to her physical and mental disabilities, Jess is still in nappies.
Currently Jess attends speech therapy once a week and physiotherapy as well as occupational therapy, once every two weeks.
Please follow our regular updates on our blog or Facebook and any new Fundraiser details on the Fundraiser page.
She was perfect and more beautiful than we could ever have imagined!
At six months, we were referred to a Physiotherapist for an assessment as Jess was not lifting her head as a baby of her age should. We were advised that Jess had Hypotonia (low muscle tone) and that she would require on going therapy. And so her physiotherapy and occupational therapies began.
There are many underlying conditions or syndromes associated with low muscle tone. Therefore, when Jess was around 9 months old, we were referred to a Neurodevelopmental specialist to determine what that condition may be.
Over the following months, Jess underwent numerous blood and urine tests, a CT Scan, EEG and MRI which all came back abnormal.
Jess was a generally content baby however, developmentally delayed, she was not reaching her milestones as she should. She started having Infantile Spasms; a form of seizure which we treated with anti-epileptic medication for a short time but we were advised by the specialist to wean her off it as it would interfere with the metabolic disorder testing that we were going to do.
When Jess was around one year, she was diagnosed with a condition called Hawkinsinuria. This is an amino acid deficiency where the body doesn't break down protein properly, instead it stores it and becomes toxic. We commenced treatment for this condition which meant a low protein diet where every meal needed to be calculated according to her daily protein allowance. We also had to start a series of supplements to make up for the certain vitamins and minerals that she would be lacking due to her new diet. Thankfully, Jess took well to being vegetarian.
Jess started nursery school at the beginning of 2010. She was in a special needs class which is incorporated within a mainstream school. She adapted well to this change and was known and loved by all the kids and teachers at her school.
The principal of the school referred us to a neurologist as by this time Jess was suffering from more intense, frequent seizures where she would scream, hold her breath and go blue in the face then fall asleep. We started her on anti-epileptic medication again which reduced the frequency and severity of the seizures. She still had a number of small seizures throughout the day which we called 'frights' and the occasional Infantile Spasm.
Jess started attending speech therapy at the school. She is very vocal however cannot say any words as yet. She babbles and laughs a lot. The therapist informed us that therapy would be a lengthy process with an uncertain outcome. Although Jess may never be able to speak, we may be able to get her to communicate with us in some way.
In 2011, we were referred to a specialist Paediatrician who ran another series of blood and urine tests, only to discover that Jess had been misdiagnosed with Hawkinsinuria. This professor advised us that after the extensive biochemistry tests that he had performed which had all come back negative, that Jess's condition must be genetic. So toward the end of 2011, we took Jess to the Geneticist who reconfirmed that we were misdiagnosed initially. We started slowly introducing protein back into Jess's diet and she was placed on a low GI diet to try and assist further with seizure control. During consultation, Jess's characteristics, behaviour, anomalies etc. were noted and then the Geneticist met up with a multi disciplinary committee to discuss possible syndromes. It was recommended that we do a MLPA chromosome test which screens for any duplication/deletion mutations and for Rhett Syndrome as Jess is very fascinated with her hands; which is apparently a common trait for this syndrome as well as Angelman Syndrome. Thanks to the funding received via this site, we were able to have all three of these tests performed which came back negative.
The Geneticist then advised that we send samples of Jess's blood to the Salisbury District Hospital in the UK for further chromosomal testing as their testing is far more advanced than ours in South Africa.
Finally, after six years of testing, we received a positive diagnosis. At this stage all we wanted was a name for Jess's condition and confirmation if there was any treatment available.
In December 2011, Jess's epilepsy took a turn for the worse. She would spend most of the day in a daze with no recognition of what was going on around her. Her Paediatrician was concerned that either she was having numerous small seizures that we weren't picking up or she was not coming out of a seizure properly when she had one. She had another EEG done and started a second anti-epileptic drug.
By February 2012, we had seen little change in Jess and decided to investigate the Ketogenic Diet. This is a high fat, extremely low carbohydrate diet. We made contact with a dietician in Cape Town and within a few weeks we had made it down there and Jess was admitted to hospital to start her off on the diet. Children are admitted to hospital when starting on the Ketogenic Diet as they are put into a 'state of starvation' by means of a specialised formula and this needs to be monitored. We were ecstatic, Jess went 21 days seizure free from inception of the diet!!
In the middle of 2012, we made the decision to take Jess out of school as she needs one on one attention and her therapies need to be carried out over the whole day. We found a wonderful care giver that looks after Jess during the week. She attends all therapy sessions with Jess and follows a roster throughout the week which include her exercises and play time.
Jess can sit however she does not know how to lie back down when she gets tired so she cannot be left sitting alone as she throws herself back. She does not crawl or walk as yet however she has a standing frame which she uses daily along with knee immobilizers to keep her legs straight when standing. She also wears splints throughout the day. Jess cannot feed herself and everything needs to be pureed as she cannot chew as yet. She is also tactile defensive which means that she doesn't handle different textures or sensations too well. Brushing her hair is a terrible ordeal for her every morning. We do have a sensory brush that we use on her to try and help her manage these activities and different textures better. Due to her physical and mental disabilities, Jess is still in nappies.
Currently Jess attends speech therapy once a week and physiotherapy as well as occupational therapy, once every two weeks.
Please follow our regular updates on our blog or Facebook and any new Fundraiser details on the Fundraiser page.