Help Aaron to go to rehabilitation center
Donation protected
Hello, I would like to introduce myself and my little boy. My name is Irina and I am 26years old, my little angel is Aaron and he is 4 and half years old.
A little bit of pre story:
My son was a planned child, and I was on cloud 9 when I found out that I was finally pregnant. My pregnancy wasnt difficult during the first 20weeks.
On the second scan the doctor told me that the water in my sons brain was a bit enlargent. Normal is up to 10mm, but its was 11.2mm and 11.3mm. I was very scared and I had no idea what it meant. They decided to check me every 4 weeks, so I had to go back to hospital for the scan every so often until my due date. On my second appointment I have questioned my doctor "What should I expect?
Is my son will be disabled? The answer I got was "Your child will be just slower than others". I remember this words like it was yesterday. I never thought that it might
be that "slow". 4 weeks before my due date I had Bell’s palsy where half of my face just was paralysed. I was so down, no one could tell me about this illnes, how long it takes to cure or if it fully cures at all. I was on prednisole for 7 days as I was still pregnant and dont want to hurt my child by taking any meds. My son was born naturally 4 days later than my due day.
My boy was born with no problems during labour. We were discharged from hospital on the second day. We were advised to come back for a hearing test as one of his ears did not pass the test.
After a month we were back to check his head for the fluid, and the results were within normal. The future hearing test was passed as well. My boy is growing, gaining weight. At age 3 months, I have noticed that Aaron was not holding his head by himself and that was first alarm in my head. I did not panic as I am not a doctor to put diagnosis. In follow up check up
I spoke with Health Visitor about the problem, then we started to monitor him. Months were passing and Aaron little by little started to improve but slowly.
At age 8 months he would not sit or wouldn’t even try himself only if I would sit him up and be next to him as he could easily fall and hurt his head. He started to crawl at age 15months and was very unsafe so we used to wear a helmet for him to protect his head.
Our first holiday when he was 10months changed his life and mine. B&Q, family around, great weather, sun, and my son starting to vommit, had convulsions and had been unconscious. My dad took us to hospital. I thought my heart will stop. My son started to have epileptic seasure with every fever. Since this holiday every time he catches a bug, or had high temperature we would end up being in hospital. It lasted for about 2 years, hard years of panic, worries and stress. He was put on medication called Levetiracetam, it is an anti-epileptic drug, also called
an anticonvulsant. Now my boy is 4.5yrs and he is 22month seizure free. Hope he is outgrowing it, as kids might outgrow till age 6. He had lots of diffrent tests done which I will write a bit later. He is not talking, but he understand a lot and communicates mainly by noises and some simple actions. He is not toilet trained.
He tries the best to learn to use a fork and spoon, he has progress however I still have to feed him. At the moment his problems are:
Hipotonia(low muscle tone)
Global Development Delay,
Epilepsy.
At around age of 2 the doctor refferd him to X-ray his hips where we found out that his right hip is at risk of dislocation. He is still monitored until now and at the moment it is not getting worse or better. He attends a special need nursery and this year was accepted to the same school.
About his walking, he does pull himself to standing and cruise a lot, but his legs
are turned inside and because of hipotonia he does not stand for long. But within all this time he is always improving, he shows good progress. Slowly, very slowly but he gets there.
At nursery he using a pacer, it is special walker. He wears splint most of the time as well.
He has lots of specialist involved and everyone try to help as much as they can, but no one can give me any information about his diagnosys.
The tests and results my wee Boy had:
*Mutation in SCN1A gene(associated with prolong febrile convulsion) - Did not show any known pathogenic mutation in this gene.
*EEG - showed intermittent epileptic discharges, it indicates the risk of developing epilepsy but does not indicate that events Aaron had so far were epileptic.
*MRI and CT 2018 - Aaron has normal brain structure as seen on MRI and CT which was done following a prolong seasure.
*CGH microarray - is normal, which loos at the complete compliment of the chromosomes and DNA He also had a specific test of exclude Fragile X syndrome and sodium channel 1A,
which was negative and this can be useful in cases of prolonged febrile seisures and epilepsy.
Metabolic Cause - Aaron had investigations to look at metabolic cause and we have excluded several conditions including of his plasma amino acids,normal urine organic acids
and normal urinary mucopolysaccharides. He also has normal long chain fatty acids in the plasma and normal ammonia urine, urea andelectorytes creatinine, liver function tests and bone
profile.
*Panel of GENES(that cause early onset form of severe epilepsy) - No change in any 104 genes has been identified that explain Aarons symptoms.
*MRI 2019 - showed incomplete myelination in some parts of the brain.
*Development GENES( comparing mothers, dads and sons development genes) - ongoing test.
I would love to be able to take Aaron to the rehabilitation centre in August 2020. The objection of rehabilitation is to improve the quality of life and independence. One of the goals is to develop the ability to walk and speak as well as self-care ability, but also strive to achieve non-dependence on family members.
In case of rehabilitation for Aaron, the main objective is to avoid severe disability in the future and to aid normal physiological development as much as possible.
Any help will be much appreciated and thank you for your time reading our story.
A little bit of pre story:
My son was a planned child, and I was on cloud 9 when I found out that I was finally pregnant. My pregnancy wasnt difficult during the first 20weeks.
On the second scan the doctor told me that the water in my sons brain was a bit enlargent. Normal is up to 10mm, but its was 11.2mm and 11.3mm. I was very scared and I had no idea what it meant. They decided to check me every 4 weeks, so I had to go back to hospital for the scan every so often until my due date. On my second appointment I have questioned my doctor "What should I expect?
Is my son will be disabled? The answer I got was "Your child will be just slower than others". I remember this words like it was yesterday. I never thought that it might
be that "slow". 4 weeks before my due date I had Bell’s palsy where half of my face just was paralysed. I was so down, no one could tell me about this illnes, how long it takes to cure or if it fully cures at all. I was on prednisole for 7 days as I was still pregnant and dont want to hurt my child by taking any meds. My son was born naturally 4 days later than my due day.
My boy was born with no problems during labour. We were discharged from hospital on the second day. We were advised to come back for a hearing test as one of his ears did not pass the test.
After a month we were back to check his head for the fluid, and the results were within normal. The future hearing test was passed as well. My boy is growing, gaining weight. At age 3 months, I have noticed that Aaron was not holding his head by himself and that was first alarm in my head. I did not panic as I am not a doctor to put diagnosis. In follow up check up
I spoke with Health Visitor about the problem, then we started to monitor him. Months were passing and Aaron little by little started to improve but slowly.
At age 8 months he would not sit or wouldn’t even try himself only if I would sit him up and be next to him as he could easily fall and hurt his head. He started to crawl at age 15months and was very unsafe so we used to wear a helmet for him to protect his head.
Our first holiday when he was 10months changed his life and mine. B&Q, family around, great weather, sun, and my son starting to vommit, had convulsions and had been unconscious. My dad took us to hospital. I thought my heart will stop. My son started to have epileptic seasure with every fever. Since this holiday every time he catches a bug, or had high temperature we would end up being in hospital. It lasted for about 2 years, hard years of panic, worries and stress. He was put on medication called Levetiracetam, it is an anti-epileptic drug, also called
an anticonvulsant. Now my boy is 4.5yrs and he is 22month seizure free. Hope he is outgrowing it, as kids might outgrow till age 6. He had lots of diffrent tests done which I will write a bit later. He is not talking, but he understand a lot and communicates mainly by noises and some simple actions. He is not toilet trained.
He tries the best to learn to use a fork and spoon, he has progress however I still have to feed him. At the moment his problems are:
Hipotonia(low muscle tone)
Global Development Delay,
Epilepsy.
At around age of 2 the doctor refferd him to X-ray his hips where we found out that his right hip is at risk of dislocation. He is still monitored until now and at the moment it is not getting worse or better. He attends a special need nursery and this year was accepted to the same school.
About his walking, he does pull himself to standing and cruise a lot, but his legs
are turned inside and because of hipotonia he does not stand for long. But within all this time he is always improving, he shows good progress. Slowly, very slowly but he gets there.
At nursery he using a pacer, it is special walker. He wears splint most of the time as well.
He has lots of specialist involved and everyone try to help as much as they can, but no one can give me any information about his diagnosys.
The tests and results my wee Boy had:
*Mutation in SCN1A gene(associated with prolong febrile convulsion) - Did not show any known pathogenic mutation in this gene.
*EEG - showed intermittent epileptic discharges, it indicates the risk of developing epilepsy but does not indicate that events Aaron had so far were epileptic.
*MRI and CT 2018 - Aaron has normal brain structure as seen on MRI and CT which was done following a prolong seasure.
*CGH microarray - is normal, which loos at the complete compliment of the chromosomes and DNA He also had a specific test of exclude Fragile X syndrome and sodium channel 1A,
which was negative and this can be useful in cases of prolonged febrile seisures and epilepsy.
Metabolic Cause - Aaron had investigations to look at metabolic cause and we have excluded several conditions including of his plasma amino acids,normal urine organic acids
and normal urinary mucopolysaccharides. He also has normal long chain fatty acids in the plasma and normal ammonia urine, urea andelectorytes creatinine, liver function tests and bone
profile.
*Panel of GENES(that cause early onset form of severe epilepsy) - No change in any 104 genes has been identified that explain Aarons symptoms.
*MRI 2019 - showed incomplete myelination in some parts of the brain.
*Development GENES( comparing mothers, dads and sons development genes) - ongoing test.
I would love to be able to take Aaron to the rehabilitation centre in August 2020. The objection of rehabilitation is to improve the quality of life and independence. One of the goals is to develop the ability to walk and speak as well as self-care ability, but also strive to achieve non-dependence on family members.
In case of rehabilitation for Aaron, the main objective is to avoid severe disability in the future and to aid normal physiological development as much as possible.
Any help will be much appreciated and thank you for your time reading our story.
Organizer
Irina Ganecka
Organizer