Tuesday, 7 June 2016

Pontine Tegmental Cap Dysplasia

Patrick was born with a very rare condition called Pontine Tegmental Cap Dysplasia.

Despite his health issues, little Patrick has fought to stay by his twin's side.

Patrick's mother kindly agreed to an interview with me in relation to her son's condition so as to help raise awareness of it.


The Interview:

What is Pontine Tegmental Cap Dysplasia?
A rare brain condition known in 19 others in the UK, the parts of the brain that are affected are the cerebellum, the brainstem and the pons.
Most children with this condition have one sided facial palsy and a rare eye condition called corneal anesthetisa (no nerves in the eyes) this means my son Patrick is at risk of corneal ulcers and can go blind easily.

When was Patrick diagnosed?
Patrcik is a twin, we went for our 20 week scan where they noticed issues with his kidneys which can be tell tail signs that something is wrong with the brain! Patrick has only one kidney they doesn't function as well as it should.
We were told he wouldn't make the pregnancy from MRI scans when I was pregnant.
We decided to let him lead his own path and make his own journey and he made it past delivery and he's now 15 months!
He was diagnosed properly after a MRI scan at 4 days old.

How was a diagnosis made?
MRI scan and genetics doctor on the neonatal intensive care unit

What symptoms did he / does he have? Patrick has right sided facial palsy, one kidney, corneal anesthetisa, epilepsy, high and low muscle town, unsafe swallow and is fed via gastrostomy (feeding tube in his belly) he has global development delay, auditory noropathy (hearing impairment) he is a happy soul to say he has had a rough start!

What is the cause?
The cause is unknown!
It's believed not to be genetic but big studies are going on in England and America that I know of to try and find out what the cause is.

Is it hereditary?
No, there are no families reported to have more than one child with this condition, it's life limiting so no one with this condition that I know of has been able to reach adulthood and have children

What treatment did he / does he receive?
He has a paediatric consultant that sees him regularly keeps his medicines up to date and he sees his eye consultant kidney consultant and neurologist! Together they all try and keep things up to date.
He has physiotherapy and an occupational therapist too who are helping so much!

What support is available?
We have 16 hours a week for carers to come into our home to help care for Patrick.
We space it out so we can do the morning school run and leave him at home with them for his medicines and they help with bathing and physiotherapy.

What is Patrick's prognosis for the future?
His condition is life limiting, we do not know how long we have our little miracle boy but he has brought us so much.
He is so brave and he has fought so hard for his life and he's just starting to enjoy it, he smiles and interacts he is amazing!

What advice would you give other parents/guardians who's child is recently diagnosed with this condition?
Because it's so rare I searched and searched to try and find families with kids like my boy and I did!
I'd say it's a rough road ahead and the first year is the hardest but you will be the only person that knows your child!
Don't be afraid because your a special needs mum!
Take it all in because you sure don't know how long you have these little miracles for!
Life's about making memories and yes it breaks my heart everyday that my twins can't play together but now I forget the negatives and focus on the positives! Each day is different and brand new.





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