Harrison is a happy cheeky 5 year old boy who loves animals, dinosaurs, trains and school. Most of all, he loves playing with his friends.
One of Harrison's wishes is to ride a bike like his friends...
Harrison was born healthy in July 2010 but over the next few months, it became clear that something wasn't right. Harrison was unable to hold his head up until 8 months and didn't take his first steps until 26 months.
He was under an ENT (Ear, Nose and Throat) consultant who specialised in high risk cases for 3 years as Harrison suffered monthly with tonsillitis, ear infections, Recurrent otitis media with effusion (glue ear) and would stop breathing during night. The baby monitor alarm was a life saver. The noise was enough to stir him and wake us!
Harrison was referred to a child paediatrician where he was diagnosed as having severely marked Hypotonia and Hypermobility. He was also diagnosed with speech delay and global development delay. He has been receiving physiotherapy since a year old but Harrison's condition started to confuse the specialists as his condition and fatigue varied from day to day. Harrison trips/falls regularly, mainly to the right and is unable to walk distances.
Harrison was referred to DNA Genetics at Southampton General Hospital where he was found to have a Chromosome 2p16.3 micro deletion including the NRXN1 gene. Both myself and his dad have been tested and we do not have this deletion. The common features to this deletion are:
- Speech and language delay
- Behavioural difficulties such as autism spectrum disorder, ADHD and sensitivity processing disorder
- Global development delay (Children are likely to need support with learning)
His Genetic consultant wasn't happy that the deletion was the answer to all of Harrison's difficulties and referred him to Neurology.
A few weeks before Harrison's appointment, he had a bad fall into a door frame and required a CT scan in A&E. The scan came back clear for the impact of the fall but showed that the right side of his Cerebellum (Little Brain) had not formed (Hypoplastic right cerebellar hemisphere). In the space of where the Cerebellum should be, an arachnoid cyst has formed.
- Cerebellar damage produces disorders in fine movement, equilibrium (sense of balance), posture and motor learning.
An MRI confirmed the insult and loss of blood supply to the Cerebellum happened in the very early stages of pregnancy causing it to stop forming. A question was raised of whether the DNA deletion could have caused this? This is a question they do not have an answer to.
The Chromosome 2p16.3 micro deletion including the NRXN1 gene and Cerebellum abnormality is unique. We have agreed for Harrison’s data to be placed onto a big database called Decipher which is held at the Genome Park in Cambridge. This is shared with the whole of the world to further understand Chromosome changes.
Harrison has recently had a review of his multiple diagnoses by his Paediatrician and has been diagnosed with Ataxic Cerebral Palsy.
- Ataxic cerebral palsy is clinically observed in approximately 5-10% of all cases of cerebral palsy, making it the least frequent form of cerebral palsy diagnosed. Ataxic cerebral palsy is caused by damage to cerebellar structures. Patients with ataxic cerebral palsy experience problems in coordination, specifically in their arms, legs, and trunk. Ataxic cerebral palsy is known to decrease muscle tone. The most common manifestation of ataxic cerebral palsy is intention (action) tremor, which is especially apparent when carrying out precise movements, such as tying shoe laces or writing with a pencil. Like all forms of CP, there is no "cure" for ataxic cerebral palsy.
With all of the above considered, Harrison is progressing well in mainstream school with an Education, Health and Care Plan and 121 support teacher.
Harrison has recently been riding his cousin's disability bike and I have never seen him soo happy!
He is unable to ride a standard bike as he needs truck support, straps to support his feet to help with peddling and a foot drive system which standard bikes do not have.
Tomcat visited Harrison last week and fitted him for a bike! He took it for a ride and was soo excited!
I received the quote today and the total cost of the bike is £2310.00!
The bike will last him 5-6 years but as you can imagine, the cost was a shock.
A friend suggested setting up a funding site, so here I am. I would love to see the smile on his face again when riding a bike, his bike!
We will be applying for Charity funding towards Harrison's bike.
Depending on whether we are accepted and how much they are willing to fund, any extra money raised on here will be donated to the below:
'Unique' The Rare Chromosome Disorder Support Group.
Support and information for families of children with rare disorders http://www.rarechromo.co.uk/html/home.asp
Monkey Munchkin Childrens Fund
Our son Theo has what is known as X-Linked Hydrocephalus, a genetic condition requiring varying therapies, equipment & support. As he grows his needs will change. The NHS provides fantastic support, but that is limited, & this fund helps compliment that.
Any help is really appreciated.
Zoe & Jim x