Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


Adam

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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 are small and there is a lot of extra teaching support. She also gets the chance to do more swimming (the school has its own hydrotherapy pool) and this is great as it is one of her favourite activities. She is also quite partial to Barbie, Fimbles and Tweenies and loves trying to catch our two cats!!

One of the ways I often describe dealing with Amie's needs is that although it is constant, the challenges you face change over time. At first, her medical stability was our main concern during the first 12 to 18 months but over the past few years this has changed to her learning ability and the more recent diagnosis of arthritis. No doubt this will again change over the next few years at least we won't get bored!!!

As a family we have definitely developed and become closer. We prioritise time to be spent together and have often been amazed at our coping levels! Whilst Amie can be challenging, we endeavour to lead as normal a lifestyle as possible. We still go abroad for family holidays, the pub for Sunday dinner, the zoo etc. and although it is often not easy for Amie to cope with these situations, we know we need to expand her learning experiences as much as possible.

Both of us have also developed. Sam decided to retrain as a speech and language therapist in 2001 and after three years of hard labour qualified in July 2004. Gary's job now frequently takes him travelling across to mainland Europe and he still manages to get at least one round of golf in each week.

It is difficult to say what things will happen in the future, but we know that by facing each new challenge with the determination and courage that Amie has displayed over the past five years we will meet them head on.