Amie

AmieGary and Sam Hawkesford are parents to Amie and live in Romsley, on the West Midlands and Worcestershire border.

Amie was born on 1st October 1999 following a normal and healthy pregnancy ... little did we know what was in store!!! At 36 hours old, as we were being discharged from the maternity hospital, paediatrician's found absent pulses in the lower half of her body a slight problem really!!

Following six hours in SCBU,a cardiologist from Birmingham Children's Hospital was summoned. Amie was diagnosed with an interrupted aortic arch, requiring immediate surgery. She underwent a seven hour repair at four days old remarkable that this could be conducted on a baby so small.

The diagnosis of 22q11.2 deletion followed shortly after that and with it a deluge of other problems. Amie had extremely low immunity, epilepsy, calcium deficiency, feeding difficulties and likely developmental delay ... but amazingly we went home after a month at BCH.

The early days were very unpredictable. We wanted to know exactly what the future would hold; how severe the developmental delay would be; would the repair to her aorta remain successful. Nobody could tell us and I think that this is the hardest thing as a parent that you have to face in the early days you just have to play a waiting game. Make sure you know what MIGHT happen so that you can be alert to early signs to enlist the help of the medical and health professionals.

Over the next couple of years, the extent of Amie's developmental delay became apparent in fact it has turned out that she has a severe learning disability. Medically she has remained quite stable. Her heart repair has remained strong (touch wood!!) although future surgery by catheter will be required to stretch the aorta where scar tissue is not growing at the same rate as the healthy tissue. One of her valves is also leaking so there's a chance that may need replacing.

Although her immunity remains low and she is susceptible to severe upper respiratory tract infections, this is managed at home by daily prophylactic antibiotic cover. Her calcium deficiency and epilepsy have now stabilised. Recently however, Amie has been diagnosed with Juvenile Idiopathic Arthritis which initially affected her knee joints but appears to be spreading to other joints (her ankles had to be treated with steroid injections in addition to the knees recently).

The arthritis has affected her mobility. Amie requires the use of a major buggy when we are out and about and although she can walk, at five years old she cannot climb, run, jump, dance etc... This is exacerbated by the fact that she is severely delayed in her motor movements Amie did not walk until she was 2 years three months.

Amie's main area of need is her learning disability. At five years old she is still not able to talk and her level of understanding is that of a 12 to 18 month old. However, she is very good at getting her point across and can be quite persistent if we get it wrong!!! Quite a little madam!!!

Amie's learning disability affects all of her functioning,for example, she is not able to make peer friendships, she has poor play skills (in fact, we have to force her to play!!), her eating skills are very immature (and exacerbated by poor fine motor control) and she finds it generally difficult to retain information.

Amie has been introduced to sign language and we have also attended a course. She is picking more and more signs up all of the time, but again, because of her learning disability and poor hand movements, her signs are unique!!! We think that the way forward for Amie's communication will be through the form of a symbol system so everybody can understand her.

Due to Amie's physical and learning disabilities, we have opted for a special school education. Given the fact that she is also quite fearful of other children (some of Amie's behaviours are on the autistic spectrum) this suits her fine as the class sizes