A mum has spoken of a heartbreaking illness that has left her two-year-old son battling seizures.
Asher McGarrity, was diagnosed with CDKL5 deficiency disorder in 2021 after his mum Ruth and father Lee fought tooth and nail for answers after he began suffering from seizures at four to five weeks old.
The condition is described as being a mutation in the CDKL5 gene which helps tell the body how to create protein in order to make the brain work- it causes issues with mobility and sight. At first the family were told that it was just reflux after seeing an epilepsy specialist but they felt that something was amiss.
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Doting mum Ruth describes feeling patronised over this period and says that she felt as though her concerns were being brushed aside. But when Asher went for a routine hip scan when he was 12-weeks-old, a medical specialist witnessed him having one of his episodes.
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He would jolt forward and go red in the face whilst his eyes bulged out - something his mum described as being a terrible experience. The woman carrying out the scan said to Ruth that she felt it was a seizure and began to get the ball rolling on Asher getting the correct care.
The family were kept in before being sent over to the Edinburgh Sick Kids where the young boy was diagnosed as suffering from seizures. From there, the family had to go through six months of regular blood work and genetic panelling to get a firm grasp on what was happening to their son.
“Asher was diagnosed in 2021 with CDKL5 deficiency disorder. This is a mutation in the CDKL5 gene which helps tell the body how to create protein to make the brain work," Ruth said.
“It's known for its hard to control seizures and severe developmental delays. It occurs more commonly in girls but when it arises in boys it tends to be more drastic.
“Asher started having seizures at four or five weeks old, but we were told at first that these were reflux and not seizures. I remember thinking he had maybe just tweaked a nerve when they first started but then they kept on happening.
“We took him to A&E but unfortunately did not have any videos to show what was happening. We were met with the typical patronising comments asking if this was my first child and saying they were probably normal baby movements.
“After we saw an epilepsy consultant we were told again that it was reflux but I felt as though something was not right. When he was 12-weeks-old we took him for his routine hip scan and it is there where a woman saw him having an episode.
“He would jolt forward and go red in the face whilst his eyes would bulge out. It was scary and horrible looking.
“Thankfully the woman carrying out the scan agreed it was a seizure and that something was not right. She started the ball rolling and we got kept in before being sent over to Edinburgh the next day where he was confirmed as having seizures.
“They gave us an initial epilepsy diagnosis but Asher still had to go through a lot of blood work and genetic panelling over a period of six months before we got a more in detail diagnosis.”
Ruth said that her son began to have more dangerous seizures that are understood to cause brain damage. He was initially prescribed clobazam, but Asher’s epilepsy team decided to add in a medicine called keppra as the seizures worsened.
She said that his illness can be relatively drug resistant and that the clobazam and keppra were only able to help a little but did not control it. This led to her putting Asher discovering CBD oil through other parents in her position which led to him having nine days seizure free.
As a result the family are trying to fundraise around £5,000 in order to secure funds to continue the CBD treatment and to explore future trial treatments.
“His seizures are at their worst level between 3-6.00pm. We are seeing a little progress but he is also suffering from a visual impairment where his brain cannot understand what his eyes are seeing”, she said.
“As a parent you do not want to see your child in distress. He used to cry for hours and hours. At times I would have Asher and his sister, Elodie, crying on my knee at the same time.
“I think how do we manage this? We do have support from friends and family but it sometimes can feel very lonely.
“We have to pay around £200 a month for the CBD which has improved his health but the dosage will have to go up as he gets older. Alongside this we have to go to a private physio to get him intensive sessions that he needs to build his muscle tone up.
“There has also been a promising trial in treating his condition in rats and we want to be in a position to be able to explore this if it could help him in the future. That is why we have organised the fundraiser as well as a fundraising event for the end of this month.
“Every milestone - or ministone which is what we call them - we celebrate. He has managed to eat puree food despite the fact that a lot of kids in his condition are tube fed.
“I just feel sorry for him as we have friends and family who have kids that are a similar age and it is a wee shame that he will struggle to build a relationship with them due to his health. I also feel sorry for his sister as I have to care for Asher full time and I need to ensure that I spend time with her to let her know that she is loved.
“I had to quit my job in order to care for him full time. I had a dream the other night that he was sitting on the floor and he turned and started crawling towards me.
“Even if he could see and just smile at me, it would make me so happy.”
The Glenrothes family are hosting an event on November 26 to raise money for Asher’s care. For more details on how to attend or support this, please visit the event site here.
To donate and help the family raise £5,000 for Asher’s care, please click on their fundraiser here.
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