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Meet Joesph

Joseph Michael Kendrick, was born on May 9 2009 after an unremarkable pregnancy at 42 weeks in Greater Manchester, UK. At birth he was noted to be very quiet, but thought to be otherwise healthy.

Over the next couple of days, however, he rapidly deteriorated, stopped waking for nappy changes and feeding, and fell into a coma. Joseph was immediately taken to PICU (Pediatric Intensive Care Unit), where they began testing him to find the cause of his lethargy and low muscle tone.

After six frantic days, his parents, Emma + Paul found out that Joseph had a severe form of a very rare genetic, metabolic disorder known as NKH. Emma + Paul were absolutely devastated.

As if they didn’t have enough to worry about, they were then told that Joseph was unlikely to live past day 10. And, if he did, he almost certainly wouldn’t reach his first birthday.

Thankfully, Emma + Paul had their families around them. Their unwavering support got them through those dark first few days. Every day we would stand around our little boy’s cot praying that he would wake up, open his eyes or cry. They were told of a special medicine – sodium benzoate – which may help to wake Joseph up and remove some of the glycine from his brain, but not from his cerebral fluid.

Eventually, on day 13, Joseph finally ‘woke up’, he started crying, and he seemed to act more like a ‘typical’ little baby. They were able to change his nappies, feed him via his ng tube and cuddle him. To them, that was everything. Emma and Paul were told that Joseph was very jerky due to a kind of seizure called a myclonic jerk and, if he lived, these would turn into other types of seizures.

Joseph did get through those horrible early days in hospital, and they were able to take him home after about a month. They had a very worrying year waiting for him to become as poorly as we had been told and to stop breathing – but thankfully he never did.

Joe has now reached eleven years old, and is doing remarkably well despite his condition. He still has frequent seizures, but takes medicine to help control them. Joe ate orally till he was 4 years old but now has a gastrostomy for milk and medicines which is much easier to feed him through. Joe still manages tasters of food when he’s well and particularly enjoys yoghurt and ice cream in the Summer.

As parents, Emma and Paul are very proud of their strong and resilient little boy. He has done so well and so far has exceeded all expectations. Joesph has shown he wants to fight all the way – and his parents are determined to fight on his behalf to help create awareness of this devastating condition, find a better treatment for him, and one day find a cure for NKH.

As such, Emma and Paul founded Joseph’s Goal in October 2012, which has grown into one of the leading NKH charities.

Joseph’s Goal funds research at UCL, under Prof. Nick Greene. As such, Prof. Nick is making great strides in gene replacement therapy – the defective gene in the brain that causes NKH has been identified, and the task now is to find a route to replace it with a healthy gene. Prof. Nick has acknowledged that funds received from Joseph’s Goal have significantly accelerated his NKH research.

There is, at last, some light at the end of a very dark tunnel, with real grounds for optimism that better treatments for NKH are not far away.

Joseph’s Goal is still the only NKH charity in the UK and is now the biggest fundraiser in the world for NKH research. We are hopeful that this year will be the year that breakthroughs in NKH research are made, and Joseph’s Goal is determined to maintain our level of fundraising and support to make this happen.

www.josephsgoal.org
Read about Prof. Nick’s research
Follow Joseph’s Goal on Facebook
Donate to Joseph’s Goal on justgiving

Meet Daisy

Daisy + Family

Daisy was born on the 4th June 2019 in Birmingham, UK. She made her arrival at 40+6 weeks after an uneventful pregnancy. Daisy initially appeared to be a healthy baby, passing all her newborn screenings and was able to go home when her Mum, Toni was discharged.

The next morning Toni raised her concerns to their doctors as Daisy appeared very sleepy, was feeding poorly and didn’t cry! Later on that day Daisy was transferred to Neonatal Intensive Care Unit.

Over the next few days Daisy deteriorated was feeding poorly and having difficulties breathing on her own. After trying different breathing aids it was decided Daisy needed to be ventilated. She was moved to the Intensive Care Unit and was ventilated for almost 3 days.

On Day 9 (diagnosis day) Daisy was doing much better – she was now completely breathing on her own (hurrah!). They thought she was getting better, little did her parents know the next conversation with the doctors was about to change their lives forever.

Daisy was diagnosed with NKH, and in that second everything changed. Toni and Adam were told Daisy was unlikely to survive her first 6 weeks and almost certainly wouldn’t see her 1st birthday. Well, Daisy has just celebrated her 1st birthday.

Daisy brings so much joy. Their life is not easy and everyday comes with its challenges but to see Daisy reach milestones they were told wouldn’t happen is inspiring. Daisy is our hero, she touches the hearts of everyone she meets.

Follow her journey on Facebook: Daisy’s Diary with NKH

Meet Mikaere

Mikaere Hulance + Family

Mikaere was born October 2016 in London, UK. An hour after birth his breathing was shallow, and his limbs were floppy, like a rag dolls. He was whisked up to NICU and his oxygen needs escalated. From nasal prongs, to C-PAP to ventilation. Within a few days he was in a seizure coma, had lost all his baby reflexes. He hadn’t cried, opened his eyes, or fed.

It took eleven days to diagnose Nonketotic Hyperglycinemia (NKH). Despite the grim prognosis (early death, severe intellectual and physical disability, seizures) and a six week stay on end of life care in Hospice, Mikaere recently celebrated his third birthday (take that, nay-saying doctors!)

He’s achieved milestones not thought possible, enjoys music, drums and dancing fruit. He is very vocal and is able to communicate his needs (despite being nonverbal), he’s very social and likes to be busy. He prefers Banana Pudding over Chocolate, bubbles over sensory play and bells over anything else. He’s likes swimming and is due to start nursery in a few months.

While it hasn’t all been roses (the special needs path is not an easy one) Mikaere is well loved, and brings an incredible amount of joy to his family and friends.

Team Mikaere actively supports Joseph’s Goal in fundraising for a gene therapy cure, and has raised over £170,000 in support of Prof. Nick Greene in the UK.

Follow #TeamMikaere on Instagram
#TeamMikaere on Facebook
#TeamMikaere Blog
#TeamMikaere on JustGiving

Elly (Mikaeres Mum) wrote a children’s book: Eva the Adventurer.
Available on Amazon in over 20 languages, all proceeds go to NKH Research.

Meet Arthur

Arthur Bace + Family

Arthur was born on the 12th of March 2017 in Gloucestershire, UK. His parents, Charlene and Ashley were over the moon to introduce Arthur to his big sister Ellie.

Two days after birth, now at home, Charlene and Ashley noticed Arthur didn’t open his eyes. He’d never cried, was extremely floppy and didn’t move his limbs. After voicing their concerns, Arthur was admitted to hospital and ventilated due to rising CO2 levels.

After 10 agonising days, many tests (including a lumbar puncture and an MRI scan) Arthur was diagnosed with Nonketotic Hyperglycinemia (NKH). This was unheard of, and a complete shock to his parents.

With the support of the doctors at Gloucester Royal Hospital, his parents made the decision to remove Arthur’s oxygen tube and let the little man fight, and he did!

Arthur continued to beat the odds, celebrating his 2nd birthday in March 2019 and going on a family holiday to Disneyland Paris. Sadly, two weeks after returning from this holiday Arthur began to deteriorate. He was transferred to Acorns Children’s Hospice where, on the 2nd of May (NKH Awareness Day), Arthur passed away in his Daddy’s arms.

At the moment there are some medications used to treat NKH, but they are very harsh on tiny bodies and don’t work in all cases. Arthurs family and close friends are now working hard to help fund research into NKH and hope this will enable a cure to found for this genetic condition.

Follow Arthur on Facebook
Arthurs Just Giving Page
Arthur on Twitter
Gloucester Live Articles about Arthur