Amelia

Age: 10
Duplication: 8p23 deletion with a 4p duplication (16.1; p23.1)
Lives in: Massachusetts, USA. Originally from Oxfordshire in the United Kingdom

Our daughter Amelia, age 10, is our first and only child. She has a chromosome disorder; 8p23 deletion with a 4p duplication (16.1; p23.1). Originally from Oxfordshire in the United Kingdom we are a British family currently living in Massachusetts, USA.
 
We noticed at around 6 months old that Amelia was not developing like other children of her age but it took us a long time to get a doctor to take us seriously so she did not have a proper diagnosis until the age of two and a half. There was very little information on her prognosis at that time and we were heart-broken for the family life that we thought we had lost and fearful of what lay ahead. 

  
But we need not have worried. Amelia is a wonderful and very special child. She has the most amazing and positive personality. She is a happy, affectionate and confident child who is dearly loved by all our family and by everyone who meets her. She is so determined, brave and tough considering all that she has to go though and we couldn’t be more proud of her.

She loves singing and dancing and has a real ear for music and she can find her way around an iPad better than we can! Amelia attends our local school where, despite her challenges and differences she has managed to make some nice friends. Fortunately the school is very inclusive and Amelia plays a very active part in contributing to the class room dynamic.

Classed as having a moderate to severe global development delay (we hate the term as delayed implies that she will catch up and unfortunately this is not the case) Amelia’s physical development, speech, language, communication and understanding are all affected. She can also get distressed by sensory stimuli and she still needs assistance with basic self-help skills. However as she is getting older all these areas are slowly improving.

  
She has a few medical problems to overcome including scoliosis for which she now has to wear a Boston Brace. But by far the biggest challenge for all of us was when she started to have seizures at the age of 8. Amelia suffers from generalized refractory epilepsy which basically means that there is no apparent cause, the seizures generate from all over her brain and it is drug resistant. This was life changing for all of us, much more so than the original diagnosis. Her chromosome disorder is who she is, but the seizures are an illness. They are relentless, they are debilitating and they are devastating. She started on the Ketogenic Diet a few months ago to try and control the number of seizures and reduce some of the very strong drugs she is taking. Early indications are extremely positive, but it is tough. Each meal has to be weighed, measured and cooked to exact instructions. Food is now medicine and controls everything that we do as a family. Amelia has always been a good eater but the diet is so restrictive and there is now so much of the food she loved that she can no longer have. Fortunately her strength of character has shone through and even though meals can be a battle, and we have a lot of moans, with lots of encouragement she gets on with it like everything else she is faced with.

It is tough because the future is unknown but we have learned to deal with each situation as it arises. We just want people to treat our daughter the same as any other child, for her to be able to have the same opportunities and life experiences but modified to accommodate her needs and abilities so she can be included.  We are blessed with a very special little girl and all we strive for is that she grows up happy, healthy, loved, independent and included.

February 2015