Monday, 30 May 2016

Type One Spinal Muscular Atrophy (SMA)

Kelly Harrison and her partner Luke James are the proud parents of Kaydee Harrison and Vinnie James.

Parenting a child is the hardest job in the world and even more so when the child has an illness.

Kelly and Luke's son Vinnie is diagnosed with Type One Spinal Muscular Atrophy and despite this condition putting a strain on their family, they have fought and continue to fight every step of the way to help their little boy.

In order to help raise awareness of Vinnie's condition Kelly has kindly agreed to an interview with me.

I wish Kelly, her partner Luke, their daughter Kaydee and their son Vinnie all the very best for the future.


The Interview:

What are your names and ages?
My name is Kelly Harrison and I'm 33. Vinnie's dad is Luke James, 34.
I have Vinnie James who is 14 months and Kaydee Harrison who is 6.

When was Vinnie diagnosed with Type One Spinal Atrophy otherwise known as SMA?
Vinnie was diagnosed with SMA at 9 weeks old.

What symptoms did he / does he have?
He was floppy with no head control and couldn't bare weight on his legs.

How was the diagnosis made?
He was seen by a neuromuscular consultant who made a diagnosis by looking at him and was later confirmed by a blood test.

Is there a cure?
There is no cure.

Is the condition hereditary?
It's a genetic disorder where both parents gave to carry the faulty gene, 1 in 40-60 carry it.

What treatment/medication is available to him?
There is no real treatment or medication, just ways to help him clear his chest and keep his breathing stable by using a ventilator called bipap and keeping his airways clear with suctioning.

Please explain in detail what a typical day of caring for your son Vinnie is like?
A typical day is:
Get up and put Vinnie's nebuliser on to loosen any mucus that has been built up through the night.
We do chest physio to loosen it and suction his airways to remove the loose mucus.
We then do some physio with play using special devices called Angel arms and legs which are weightless so he can move.
He sleeps 12-2.
We then repeat chest physio after his nap.
We go out most days or if it's raining we stay in and Vinnie loves the tv.
He baths at 6 then has a nebuliser plus chest physio before going to bed around 7.30.
We feed him via a pump feeding system and an ng tube every 4 hours.
Through the night we have to get up to turn him every 4 hours or more as he gets uncomfortable.

What is Smnrx and what is its process?
The drug smnrx is administered via lumbar puncture and helps the smn 2 gene to replicate what the smn1 gene does.
Vinnie is missing the smn1 gene which produces the bodies protein for motor neurone survival.
By producing more protein it can restore movement and prolong life.

Please explain to me about the petition?
The petition was started by Charlotte Russell as we are trying to get the drug released early to all SMA children as results from phase 1 and 2 have been amazing.
The drug has been tolerated and the children have been reaching milestones where children not on the drug have been weakening and dying.

Vinnie is hooked up to a ventilator and feeding tubes, why?
Vinnie is on a ventilator around 22 hours a day, we are weaning him back to his normal 17/18 after an illness plus he is teething which produces more secretions which impacts on Vinnie's time off the vent as he has no swallow so can choke whilst not ventilated.
Vinnie has had a Feeding tube since 6 months old when he had his first serious illness.
He needs the ventilator to keep his airways open and help with chest expansion development.
Without bipap Vinnie would of died a long time ago as it allows them to rest and keeps them healthy.
He has a feeding tube as he has an unsafe swallow which can lead to aspiration.

Please tell me about the fundraising page?
We have Vinnie's fundraising page to raise money and awareness.
The money we have raised so far has bought us a wheelchair assessable vehicle as the government do not help children with mobility until the age of 3 and Vinnie cannot travel in a normal car seat and it's better to travel flat.
We use the money for family trips, equipment and more private physio as the NHS only supply this every other week.

What is the SMA Support Organisation Act?
SMA Support is a charity that offers support and some funding for SMA families.
I don't use them personally as the paperwork is ridiculous and it's easier to fundraise.

What advice would you give other patents/guardians in a similar situation?
My advice would be to fight fight fight. The NHS are not proactive, they wait until the child is critically ill before training parents in chest physio, suctioning and they do not give bipap.
If these steps were taken after diagnosis children would be living longer and more healthier.
Things need to change and soon and we nearly lost Vinnie because of this.
I educated myself in SMA as knowledge is power and not many doctors can test my knowledge or my passion.


Help & Support:


Featured Publication:


PLEASE Sign The Petition:


PLEASE Donate, Big Or Small - Every Little Helps:


No comments:

Post a Comment