Saturday, 27 April 2013

Super Brothers

Me and my brother are Super Heroes!

He wears a special Super Hero suit under his clothes, just like Superman.

I don’t need one.  But sometimes, when it’s cold, I wear a vest.

He has a special tube that goes straight into his tummy to give him food and Super Hero Strength.

I eat my dinner to make me Super Strong.  My favourite food is burger and chips.

He has a cool chair with wheels on so he can whizz around and I can run Super Fast.  Together we fight the baddies.

He doesn’t need to talk.  He uses the power of his mind to tell you what he’s thinking.  I can understand him the best though, because he’s my brother.

He tells me jokes that no-one else can hear and I tell him funny stories.

At night, when everyone is sleeping, he flies me all the way to the moon and we watch the aliens playing and catch shooting stars.  Then he flies me all the way back home again.

My brother is the best Super Hero in the whole wide world.

He’s the best brother too.

I love him all the way up to the moon and the stars and all the way back down again.

Cheeky (age 4) and I wrote this post together for Children's Hospice Week (26th April - 3rd May 2013).  Children's Hospice Week is the UK's only awareness and fundraising week for children with life-limiting conditions and the services, like children's hospices, that support them. This year, the focus is on siblings.  You can find out more by visiting the Together for Short Lives Website.

Friday, 12 April 2013

The Hunt for a Diagnosis: A Resolution of Sorts

It’s the final part in the trilogy: The Hunt fora Diagnosis, I’m sure you’ve been waiting in eager anticipation.  If you missed the initial instalments theriveting Science Bit can be found here and The Emotional Impact the lack ofdiagnosis had is here.  If you’re alreadyup to speed, or if you prefer starting at the end then read on ...

Little H’s lack of diagnosis left me feelingempty for some time.  I wanted a neatlittle label to share when people asked “What’swrong with him?”  It’s hard toexplain that the doctors just don’t know and that they have tried every testimaginable already.  People have beenshocked or angered on our behalf – “Howcan they NOT know what’s wrong with him?” And I don’t know the answer to that either. 

Not having a diagnosis makes for a lot ofawkward conversations and difficult form-filling.  Ringing up to access services, meetings withhead-teachers at special schools, discussions with other parents in waitingrooms: “What’s his diagnosis?”  “He doesn’t have one”.  DLA forms, application forms for funding allhave a question marked diagnosis:with a space of 2-3 lines to fill in.  It’svery difficult to fit H’s long list of symptoms into those little boxes.

So instead of a handy little ‘catch-all’ wordor neat little phrase to explain his myriad of symptoms and difficulties, I endup reeling off a long list of things he has ‘wrong’, things he ‘can’t do’ andthings that mark him as ‘different’ from the typical child.  It feels like I am betraying him, to sit inhis presence describing him as a list of things that don’t work the way theyshould.  My son is MORE than a list ofsymptoms. 

And if you are wondering, here are just someof the symptoms, terms and phrases used to describe Little H.  Some of them head up every letter we receivefrom medical and educational professionals, others appear occasionally.  It can, and does, make for pretty depressingreading at times.

  • Microcephaly with simplified gyrral patterns
  • Hypotonia
  • Complex karyotype with apparently balancedtranslocation
  • Medically intractable epilepsy
  • Recurrent infections
  • Severe global developmental delay
  • Severe cortical visual impairment (blind)
  • Gastrostomy fed
  • Profound and Multiple Learning Difficulties
  • Life limited
  • Life threatened

The last three on that list still hit me likea punch to the stomach when I read them.

The ‘resolution’ I referred to in the titleof the post isn’t about a sudden diagnosis that has been found for my littleboy, but more how I have come to accept, embrace even, that lack ofdiagnosis.  I’m not saying that therearen’t times when I still yearn to know the cause.  There are of course times when I return to googleand start typing in combinations of symptoms. H is due a genetics appointment this summer and I know that the lead upto that appointment will be filled with nervous trepidation and anxious nailbiting.  But for the most part we carryon our day to day without worrying about the ‘whys’ and just dealing with the ‘rightnow’. 

And how did I reach this state of serenelike calm, stress free acceptance, happy medium where I can accepthis lack of diagnosis and not let a yearning for a label/a cure control mythoughts?  Well it came in stages;firstly I realised that his treatment wouldn’t change – he has access to anumber of great therapists, doctors and consultants that help and support himin the best way they can.  Even with adiagnosis, they would be unlikely to do anything differently.  I realised that even with a diagnosis, it waslikely to be obscure and I’d still have very little to compare him to and evenif there were a number of children with the same genetic alteration, such thingsare often on a spectrum and what one child can or can’t do doesn’t necessarilyring true for another.  There will alwaysbe children that don’t fit the mould.  Ifound great support from SWAN UK and made wonderful friends, I doubt anothersupport group for a named condition would compare to the love and friendship Ihave received from SWAN UK. 

The turning point came though during adiscussion with Little H’s paediatrician. She wanted to discuss his prognosis, basically how long they expectedhim to live for.  For a number ofreasons, which I won’t go into here, Little H is unlikely to live to reachadulthood.  His paediatrician tried todiscuss how much longer we could expect him to be with us for and she comparedhim to similar groups of children: children with cerebral palsy, children whohave recurrent chest infections, children with epilepsy, children whose epilepsypresents like H’s.  “Ultimately”, shesaid, “I can’t give you a definite age like 5 or 7 or 11, with H being sounique, we just don’t know”.  Mr. M hadalready started bundling H into his pushchair as the conversation started, asshe focused on specific ages he was half way out the door.  We didn’t want to know.  We didn’t want to hear.

And with this lack of diagnosis, I feel, wehave been given a gift.  A gift of not knowing what the future holds forour son.  He may never walk, he may nevertalk, he may never sit, he may never stand. But he might!  And although we havethe fear that he might not reach adulthood, we have no idea how long he’ll bewith us.  We have been given the gift ofliving every single day as if it is his last without a big clock counting down. Instead of striving for a diagnosis, wejust deal with the day to day difficulties as they arise. We have learnt to seethe important things in life, to take pleasure in the simple things and to lovehim for who he is today, not who he may or may not become in the future.

So for now anyway, Little H’s lack of diagnosis is a blessing and as the famous saying goes: We aren’t waiting for the storm to pass, we are learning to dance in the rain.

Dancing in the rain

Thursday, 11 April 2013

The Hunt for a Diagnosis - The Emotional Impact.

As part of the SWAN UK blog hop and the first ever Undiagnosed Children's Awareness Day on Saturday 13th April 2013, I am sharing aspects of our lives and our search for a diagnosis for my son Little H.  Yesterday, I explained the science behind his lack of diagnosis.  Today I want to focus on the more personal aspects and the impact a lack of diagnosis has had on the family.


In all honesty, I knew from quite early on that there was something different about Little H.  There's just 14 months between him and his and older brother, so my experience of a newborn were still quite fresh in my mind.  He spent time in the neo-natal unit after his birth, for pneumonia, but was discharged after less than two weeks with no concerns.  Looking back, I suspect there were indicators that we all missed but instead we were relieved to be finally taking our baby home.  Nagging worries haunted me; he slept too much, he showed no signs that he was ever hungry, he struggled to feed, he never made eye contact; but these were all explained away by well-meaning friends, relatives and Dr's.  I convinced myself for a time that I was over anxious, that time in the neo-natal unit had held him back but as time went on I could ignore my fears no longer.

The strange thing was that as soon as the professionals started taking my concerns seriously, I changed my mind completely.  I didn't want the tests or the investigations.  I didn't want a label for my son.  I've worked with many children with autism in the past and I remember one parent explaining how she didn't want her son  'labelled'.  I tried, but failed, to understand.  The label didn't change her son, it simple enabled him to get the right support and helped others understand him.  He was the same boy with or without that label.  Yet as I contemplated the numerous tests to be performed on my own son, in the search for his label, I wanted to bury my head in the sand.  A label would make it all real somehow and despite being the lone voice highlighting his difficulties all along, deep down I'd just wanted to be proved wrong.  A label would change that.  A label would mean I was right.

The investigations began: MRI's, X-Rays, blood tests, metabolic tests, genetic tests - all to find out why Little H wasn't developing the way he should; why his head was so small, why he was so floppy, why he never made eye contact and why he struggled to feed.  I began to see a diagnosis as a positive.  I wanted a name for this 'enemy', this disease that had taken the son I expected from me.  I wanted to know everything I could about it so I could prepare a battle plan and fight to get my son back.  I embraced the idea of a diagnosis and I took to google in an attempt to find out as much as I could - forewarned and forearmed and ready to fight.

I distinctly remember sitting at the side of the hospital bed as the Paediatrician discussed the results of H's chromosome analysis (see 'The Science Bit' for details of that). Mr. M and I sat in stunned silence as she explained that his specific rearrangement of chromosomes was entirely unique and that the squiggles she had drawn on paper to illustrate his chromosome rearrangement was as near to a diagnosis as they expected to get.  I asked for a name, a label, but there wasn't one.  I left, clutching the piece of paper feeling bewildered and empty.  I still didn't know what was 'wrong' with my son.  I still couldn't explain why he wasn't progressing. I had no-one to compare him to, no one to ask for advice, no support groups to join.  There was just H; one of a kind.  I felt isolated and alone, wandering aimlessly in the wilderness, with no path to follow, no handy guidebooks to show us the way.  I was frightened.  Without a diagnosis we had no idea at all what the future might hold.  

Wednesday, 10 April 2013

The Hunt for a Diagnosis: The Science Bit.

The UK’s first Undiagnosed Children’s Awareness Day is on Saturday 13th April, so in order to do my bit and raise awareness for such a worthy cause, I’m going to take you right back to the beginning and explain my Little H’s lack of diagnosis.  Today’s the Science Bit – it’s all about chromosomes and genetics and translocations and things I’d no knowledge of until Little H came along and wowed us all with his own very unique blend of chromosomes!  (Don’t tell my A’ Level Biology teacher I’ve just admitted knowing nothing about chromosomes).

So ... How can Little H have a diagnosis of a rare chromosome disorder and still be undiagnosed?  Well it’s not that simple ...

Inside every cell of our bodies (except the red blood cells) we have a nucleus and inside this are chromosomes.  They're long and thread-like in structure and are made up of DNA and proteins.  Special stretches of DNA are genes and it is these genes that tell our bodies how to develop and how to function properly.

Apart from the egg cell in the female and the sperm in the male, each cell normally contains 23 pairs of chromosomes, that's 46 altogether.  They are named as numbered pairs from 1-22 and the 23rd pair are called the sex chromosomes, labelled X or Y.  Males usually have an X and a Y, whereas females usually have two X's.

Chromosomal abnormalities can occur when there are extra chromosomes (for example Down Syndrome) or missing chromosomes.  They can also occur when the chromosomes are rearranged and small parts of the chromosome are added or deleted - this is known as micro-duplications or micro-deletions.

Sometimes the chromosomes just get a bit mixed up - this is called a translocation and as long as there is no material missing or added (a micro-deletion or micro-duplication) then this shouldn't cause any problems at all.  Many normally functioning members of the public may unwittingly have these 'balanced translocations' with little or no effect.

H appears to have a balanced translocation.  In six different places, his chromosomes have broken and reattached somewhere else, though there is no evidence of any material missing.  On the face of it he shouldn't have any problems at all.  But clearly he does.  And since with every break point, the chance of losing a small amount of genetic information increases (even if we can't see it yet) the fact Little H has six mean that it is highly likely that at least one of these breaks is the cause of H's difficulties.  

To have chromosomes as dramatically rearranged as H's is quite unusual.  At present there is no-one else in the world with his exact rearrangement of chromosomes.  He is entirely unique!  In time, with greater chromosomal analysis we may be given a series of numbers and letters which indicate the specific point on the chromosome that is responsible for his special needs and then we may find someone else with a deletion in the same place, but for now, as far as we know, he is entirely one of a kind.

This post is part of a blog hop to raise awareness of undiagnosed genetic conditions for Undiagnosed Children’s Day on 13th April.  Please read and share this and the post below to help spread the word.