Zoe Pryce
Zoe and Dean's Page- Max Appeal
Fundraising for Max Appeal
Story
Thanks for taking the time to visit our JustGiving page.
Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.
We are running the Great North Run for Max Appeal, as our son, Jacob, was born with 22q.11 deletion syndrome.
22q.11 Deletion Syndrome effects everyone with the diagnosis in many different ways and can range from very mild to very severe. It can effect every organ in the body, some may never get diagnosed, whereas others so severe it effects every aspect of their life. Jacob is an absolute trooper! We didn't get his diagnosis until he was almost 5 (the Summer before he started school). The last 2 years have been an emotional rollercoaster and We’d love to give back to a charity who picked us up and introduced us to friends We’d otherwise never have met.
Jacob thankfully does amazingly well however he fights everyday to overcome things this hidden diagnosis effects. This is the 2nd most common genetic condition, to down syndrome, however many people have never heard of it.
Summary of what 22q.11 is.....
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition. Signs and symptoms may include: cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. 22q11.2 deletion syndrome is caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominantmanner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.
Please dig deep and donate if you can! I've now got to figure out how to run a half marathon?! (Zoe x)
Thanks so much!
Zoe and Dean!
xxx
Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.
We are running the Great North Run for Max Appeal, as our son, Jacob, was born with 22q.11 deletion syndrome.
22q.11 Deletion Syndrome effects everyone with the diagnosis in many different ways and can range from very mild to very severe. It can effect every organ in the body, some may never get diagnosed, whereas others so severe it effects every aspect of their life. Jacob is an absolute trooper! We didn't get his diagnosis until he was almost 5 (the Summer before he started school). The last 2 years have been an emotional rollercoaster and We’d love to give back to a charity who picked us up and introduced us to friends We’d otherwise never have met.
Jacob thankfully does amazingly well however he fights everyday to overcome things this hidden diagnosis effects. This is the 2nd most common genetic condition, to down syndrome, however many people have never heard of it.
Summary of what 22q.11 is.....
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition. Signs and symptoms may include: cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. 22q11.2 deletion syndrome is caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominantmanner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.
Please dig deep and donate if you can! I've now got to figure out how to run a half marathon?! (Zoe x)
Thanks so much!
Zoe and Dean!
xxx