Hannah

Age: 2

Duplications: 4p16.3 – 4p16.1 and 4p16.3

Lives in: East Yorkshire, England

  

When Hannah was born, she had the most awful, heart-breaking scream.  It was this, along with a list of other symptoms, that led her doctors to believe she had meningitis.  After a week in hospital and lots of tests, one test came back positive for an unrelated problem but they found no reason to explain why she was so miserable.  We simply could not comfort Hannah, she hated to be cuddled or touched and we were clueless as to how to help her feel better.  She screamed every minute she was awake for over four months but, thankfully, she has very slowly settled and calmed.

  

After a few months, we began to notice that Hannah was not developing as quickly as her little friends. She could not roll over or sit up without support.  Eventually, after lots of appointments and battles with healthcare professionals, it was agreed that she needed some further tests to discover why Hannah was still having problems.  

These tests discovered that Hannah has four genetic disorders.  Two of them are significant and are both large duplications on the 4p chromosome.  Because the exact duplications are believed to be unique, the health professionals are assuming that they are responsible for an abnormality in Hannah’s brain, hypermobility in her joints, hypersensitivity to sound and epilepsy.  Like many children with genetic disorders, we have no idea what Hannah might be capable of as she grows up.  It can be really difficult not having any clue as to the best or worst that Hannah might face but it does mean that Hannah writes her own book and we encourage her to simply do the best that she can do.  This uncertainty is probably the thing our family struggles with the most.  Because we do not know what Hannah might be capable of, we do not know what will happen to her when we are no longer here.  On a difficult day, that can be really hard to bear.

  

At two years old, Hannah is delayed in every way.  Physically, she has never stood unsupported, walked, crawled or shuffled in any way.  Since we started writing this, Hannah has sat herself up for the very first time.  She has a knack of doing something new at times when we are telling people of her progress.  She tries very hard to do all of these physical things and we are sure she will eventually walk.  She has special boots to help reduce the pain she feels from the hypermobility and she has had a walker for just over a month.  Now that she knows walking is even possible, she wants to practice, practice, practice! 

Hannah has very little speech which made it all the more special when Daddy recently asked her where Mummy was.  She pointed to Mummy and said “there”.  Together we are learning sign language and this seems to have given her a new lease of life in terms of communication.  She has even developed a couple of her own signs, particularly one that means “I want that”!  She can tell Daddy off for giving her a drink of water when she wants a drink of milk and she can tell us that she wants us to sing “five little monkeys” rather than any of the other songs that she likes us to sing over and over again.  Hannah LOVES us singing nursery rhymes and they have become a large part of our life when it comes to entertaining Hannah during her movement therapy exercises and physiotherapy.  These are therapies we do several times a day, in addition to the tasks Hannah’s portage worker and speech therapist give us to help develop Hannah’s understanding.  With this and Hannah’s very busy diary of appointments, there doesn’t seem to be very much time left to simply play.  This can all be hugely exhausting, particularly because Hannah isn’t mobile yet, but she is learning new things all the time and on our most difficult days, this gives us the motivation to keep going.  

Hannah is very, very cautious and gets easily overwhelmed in places or with people she does not know well.  She used to sob during and for a long time after her first physiotherapy sessions.  But, Hannah is also very, very determined and works very hard at all of her therapies even when she is scared or upset.  It is this that gives us hope.  Hannah is a great example of somebody who can “feel the fear and do it anyway”.  She is brave, she is beautiful and she is funny.  She is learning how to tease us and, perhaps because we waited so long to hear it, her laugh is the most wonderful sound in the world.
Hannah is a huge inspiration to us and she is teaching us to never underestimate her.