Eric fighting SMA one movement at a time
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Eric’s story.
Eric was born at term with no complications at birth. He was a healthy little boy.
From two weeks old Eric started to suffer with severe reflux (unknowingly this was our first sign of sma) he was later diagnosed with a cows milk intolerance. Eric always sounded very congested and we were told this was because of the reflux.
With the feeding finally under control by 3 months old things were looking up for Eric.
But it was around this time that we started to notice Eric wasn’t moving his arms as much, and by 5 months old he stopped moving his legs. Doctors didn’t seem to know what what wrong with Eric. We were told several different reasons he wasn’t moving as much, such as him not doing tummy time, not doing enough floor time etc. His paediatrician decided to do some tests. She first arranged for him to have an mri scan on his brain. This came back normal (sma does not effect the brain) he also had some blood tests done which came back normal.
After speaking to Great Ormond street for advice they arranged for Eric to have genetic testing done.
Whilst waiting for the results of the genetic testing we started to experience some feeding problems with Eric. He suddenly wasn’t interested in feeding and when he did feed he would start coughing or fall asleep. Unsurprising he started to loose weight. In one month he had dropped from the 9th percentile to the 2nd. We then noticed that his chest had started to stick out on one side. After two waisted trips to the gp with no answers we decided to take Eric to A&E. He was then admitted to the children’s ward.
A chest X-ray showed Eric had been aspirating and had a collapsed lung this is due to his swallow becoming weaker. This was the last time Eric ate orally!
He was put on antibiotics as he had a vial infection.
We then got the results of Eric’s genetic testing. The day that turned our lives upside down. We were taken into a room and it was confirmed that Eric had Spinal muscular atrophy (sma) type 1 (the most severe type)
We were told that he probably wouldn’t live to see his second birthday and his condition will continue to get worse, effecting his ability to move, swallow and breathe.
However we were given one little bit of hope. Eric was excepted to take part in an extended access program for a drug called Spinraza. Spinraza is given by lumber puncture and he will have this done every four months for the rest of his life. The drug slows down the progression of the condition and can also reverse it. We were told that all children react differently to the drug and that there is a chance Eric May still not improve.
One week later Eric became very unwell. The decision was made to sedate and intubate him. He was blue lighted to an intensive care unit and was intubated for a total of 12 days. We were told that Eric may not be able to breathe by himself again.
Luckily after 12 days they decided to try to take him off and it was successful! He was then given his first dose of spinraza.
Eric struggled with his breathing and after weeks for fighting with doctors we managed to get him seen at a different hospital and he was given bipap (a type of non invasive ventilation) which he uses when he sleeps and when he is unwell. He was also given a cough assist machine as he is unable to cough effectively on his own.
Eric needs chest physio twice a day on daily basis to help keep his chest and lungs clear. This increases when he is unwell.
After 8 weeks in hospital we were finally able to start our new life at home, armed with a mountain of medical equipment and an army of professionals, some of which include 3 consultants, physiotherapist, occupational therapist, Speach and language therapist, dietician, community nurses and the list goes on.
Eric has now had 5 doses of Spinraza and the results have been amazing. He now has excellent use of his arms, he has a strong grip, a small amount of head control and is starting to move his legs again.
Without spinraza Eric would be completely unable to move. It has literally changed his life.
This means that Eric is literally learning to move all over again! He currently receives physio through the nhs but this is only 1 hour every 4-5 weeks and for Eric to reach his full potential we will need to access private physio for him. This costs £77 an hour. We are also looking into other therapies and equipment which may help him.
As Eric gets bigger we will need to start making adaptations to our house to make them wheelchair accessible.
Along with the help of some friends we will be taking part in a series of fundraising activities to help raise the money to meet all of Eric’s needs so we can give him the best chance possible and help get him moving again.
Thank you to everyone for your support xx
You can follow Eric’s story at:
https://m.facebook.com/groups/220014182249383?ref=share
Eric was born at term with no complications at birth. He was a healthy little boy.
From two weeks old Eric started to suffer with severe reflux (unknowingly this was our first sign of sma) he was later diagnosed with a cows milk intolerance. Eric always sounded very congested and we were told this was because of the reflux.
With the feeding finally under control by 3 months old things were looking up for Eric.
But it was around this time that we started to notice Eric wasn’t moving his arms as much, and by 5 months old he stopped moving his legs. Doctors didn’t seem to know what what wrong with Eric. We were told several different reasons he wasn’t moving as much, such as him not doing tummy time, not doing enough floor time etc. His paediatrician decided to do some tests. She first arranged for him to have an mri scan on his brain. This came back normal (sma does not effect the brain) he also had some blood tests done which came back normal.
After speaking to Great Ormond street for advice they arranged for Eric to have genetic testing done.
Whilst waiting for the results of the genetic testing we started to experience some feeding problems with Eric. He suddenly wasn’t interested in feeding and when he did feed he would start coughing or fall asleep. Unsurprising he started to loose weight. In one month he had dropped from the 9th percentile to the 2nd. We then noticed that his chest had started to stick out on one side. After two waisted trips to the gp with no answers we decided to take Eric to A&E. He was then admitted to the children’s ward.
A chest X-ray showed Eric had been aspirating and had a collapsed lung this is due to his swallow becoming weaker. This was the last time Eric ate orally!
He was put on antibiotics as he had a vial infection.
We then got the results of Eric’s genetic testing. The day that turned our lives upside down. We were taken into a room and it was confirmed that Eric had Spinal muscular atrophy (sma) type 1 (the most severe type)
We were told that he probably wouldn’t live to see his second birthday and his condition will continue to get worse, effecting his ability to move, swallow and breathe.
However we were given one little bit of hope. Eric was excepted to take part in an extended access program for a drug called Spinraza. Spinraza is given by lumber puncture and he will have this done every four months for the rest of his life. The drug slows down the progression of the condition and can also reverse it. We were told that all children react differently to the drug and that there is a chance Eric May still not improve.
One week later Eric became very unwell. The decision was made to sedate and intubate him. He was blue lighted to an intensive care unit and was intubated for a total of 12 days. We were told that Eric may not be able to breathe by himself again.
Luckily after 12 days they decided to try to take him off and it was successful! He was then given his first dose of spinraza.
Eric struggled with his breathing and after weeks for fighting with doctors we managed to get him seen at a different hospital and he was given bipap (a type of non invasive ventilation) which he uses when he sleeps and when he is unwell. He was also given a cough assist machine as he is unable to cough effectively on his own.
Eric needs chest physio twice a day on daily basis to help keep his chest and lungs clear. This increases when he is unwell.
After 8 weeks in hospital we were finally able to start our new life at home, armed with a mountain of medical equipment and an army of professionals, some of which include 3 consultants, physiotherapist, occupational therapist, Speach and language therapist, dietician, community nurses and the list goes on.
Eric has now had 5 doses of Spinraza and the results have been amazing. He now has excellent use of his arms, he has a strong grip, a small amount of head control and is starting to move his legs again.
Without spinraza Eric would be completely unable to move. It has literally changed his life.
This means that Eric is literally learning to move all over again! He currently receives physio through the nhs but this is only 1 hour every 4-5 weeks and for Eric to reach his full potential we will need to access private physio for him. This costs £77 an hour. We are also looking into other therapies and equipment which may help him.
As Eric gets bigger we will need to start making adaptations to our house to make them wheelchair accessible.
Along with the help of some friends we will be taking part in a series of fundraising activities to help raise the money to meet all of Eric’s needs so we can give him the best chance possible and help get him moving again.
Thank you to everyone for your support xx
You can follow Eric’s story at:
https://m.facebook.com/groups/220014182249383?ref=share
Fundraising team: Team Eric (5)
Mary Newell
Organizer
England
Ant Pacey
Team member
Adam Howe
Team member
James Woods
Team member
Vicky Oates
Team member
