Our Story Begins...
After two years of battling to fall pregnant, we were delighted at the thought of having a daughter. Jessica was born 23 May 2006.
She was perfect and more beautiful than we could ever have imagined.
At six months, Jess was not lifting her head as a baby of her age should and we were referred to a Physio Therapist for an assessment. It was discovered that she had low muscle tone and so her physio and occupational therapies began.
Appartently there are many underlying conditions or syndromes associated with low muscle tone. 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, we were told that she suffered from 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 vitamins and minerals to make up for the certain things 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 last year. She is in a special needs class which is incorporated within a mainstream school. She adapted so well to this change and is known and loved by all the kids and teachers at her school.
We were referred to a neurologist by the principal of the nursery school as by this time Jess was suffering from more intense seizures where she would scream and hold her breath. We started her again on anti-epileptic medication and since then her seizures have become less frequent and severe however she still has a number of small seizures which we call 'frights' throughout the day and the occassional Infantile Spasm.
At school, Jess also attends speech therapy to try and get her to eventually communicate in some way with us. She is very vocal however cannot say any words as yet. She babbles and laughs a lot. She absolutely loves music and we can even pick up what are her favourite songs by the way she reacts when they are played.
We also took Jess to a Geneticist. During consultation, Jess's characteristics, behaviour, anomilies etc. were noted by the Geneticist and she then met up with a multi disciplinary commitee to discuss possible syndromes. It was recommended that we test for Rhett Syndrome as Jess is very fascinated with her hands; which is apparently a common trait for this syndrome. These tests have come back negative however further testing is required as she may still have the syndrome. Only 70% of the genetic defects of this condition are picked up in the inital testing. It was also suggested that we should test for Angelman Syndrome as well, as many of Jess's characteristics could possibly be linked to this condition.
Jess can sit however she does not know how to lie back down so she cannot be left sitting alone as she throws herself back. She does not crawl or walk as yet however due to the kindness and generosity of her school she received splints last year. We have also recently purchased her a standing frame and walker to assist her in learning to stand and walk. She also cannot feed herself and everything needs to be pureed as she cannot chew as yet.
Jess 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.
In December last year, we were advised after follow up testing for Hawkinsinuria, that she was misdiagnosed. We have therefore started slowly introducing protein back into her diet. Her dietician has now placed her on a Low GI diet that will assist with seizure control. This will be monitored on a monthly basis to maintain her weight gain and assess the frequency of her seizures.
We are now at a stage where we know that Jess is special. She is our little angel, however we would just like to have a name to her condition so we can be confident that we are doing everything possible to help her.
Unfortunatley due to financial constraints, we can only do the recommended tests when we have saved up the costing or received help from family. Also, according to the Geneticist, Jess does have a syndrome however due to the limitations in our Country; it is difficult to easily provide a postive diagnosis.
Currently, Jess needs to have the further testing done for the Rhett Syndrome as well as the Angelman Syndrome. We are also planning to start saving for her next splints that she will need toward the end of the year.
If anyone has the capacity to assist in any way at all, please find details of a bank account that we have opened in Jessica's name on the Contact Details Page.
Updates will be posted regularly of what the raised funds have been used for as well as any news that we have on Jess can be found on her Blog.
She was perfect and more beautiful than we could ever have imagined.
At six months, Jess was not lifting her head as a baby of her age should and we were referred to a Physio Therapist for an assessment. It was discovered that she had low muscle tone and so her physio and occupational therapies began.
Appartently there are many underlying conditions or syndromes associated with low muscle tone. 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, we were told that she suffered from 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 vitamins and minerals to make up for the certain things 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 last year. She is in a special needs class which is incorporated within a mainstream school. She adapted so well to this change and is known and loved by all the kids and teachers at her school.
We were referred to a neurologist by the principal of the nursery school as by this time Jess was suffering from more intense seizures where she would scream and hold her breath. We started her again on anti-epileptic medication and since then her seizures have become less frequent and severe however she still has a number of small seizures which we call 'frights' throughout the day and the occassional Infantile Spasm.
At school, Jess also attends speech therapy to try and get her to eventually communicate in some way with us. She is very vocal however cannot say any words as yet. She babbles and laughs a lot. She absolutely loves music and we can even pick up what are her favourite songs by the way she reacts when they are played.
We also took Jess to a Geneticist. During consultation, Jess's characteristics, behaviour, anomilies etc. were noted by the Geneticist and she then met up with a multi disciplinary commitee to discuss possible syndromes. It was recommended that we test for Rhett Syndrome as Jess is very fascinated with her hands; which is apparently a common trait for this syndrome. These tests have come back negative however further testing is required as she may still have the syndrome. Only 70% of the genetic defects of this condition are picked up in the inital testing. It was also suggested that we should test for Angelman Syndrome as well, as many of Jess's characteristics could possibly be linked to this condition.
Jess can sit however she does not know how to lie back down so she cannot be left sitting alone as she throws herself back. She does not crawl or walk as yet however due to the kindness and generosity of her school she received splints last year. We have also recently purchased her a standing frame and walker to assist her in learning to stand and walk. She also cannot feed herself and everything needs to be pureed as she cannot chew as yet.
Jess 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.
In December last year, we were advised after follow up testing for Hawkinsinuria, that she was misdiagnosed. We have therefore started slowly introducing protein back into her diet. Her dietician has now placed her on a Low GI diet that will assist with seizure control. This will be monitored on a monthly basis to maintain her weight gain and assess the frequency of her seizures.
We are now at a stage where we know that Jess is special. She is our little angel, however we would just like to have a name to her condition so we can be confident that we are doing everything possible to help her.
Unfortunatley due to financial constraints, we can only do the recommended tests when we have saved up the costing or received help from family. Also, according to the Geneticist, Jess does have a syndrome however due to the limitations in our Country; it is difficult to easily provide a postive diagnosis.
Currently, Jess needs to have the further testing done for the Rhett Syndrome as well as the Angelman Syndrome. We are also planning to start saving for her next splints that she will need toward the end of the year.
If anyone has the capacity to assist in any way at all, please find details of a bank account that we have opened in Jessica's name on the Contact Details Page.
Updates will be posted regularly of what the raised funds have been used for as well as any news that we have on Jess can be found on her Blog.
