© 2015 Nevus Support Australia PO Box 262, Seacliff Park, South Australia 5049  
Two   years   earlier,   2008,   I   gave   birth   to   my   first   child,   Isaac,   which   was   rather   traumatic   due   to   me   having   a   retained   placenta   so   I   was   apprehensive about   giving   birth   again.   However,   I   was   really   looking   forward   to   that   overwhelming   emotion   I   felt   instantly   after   giving   birth   to   Isaac   and   the   immediate love   I   felt   as   a   mother   of   a   new   born   baby.      Consultants   kept   a   close   eye   on   the   pregnancy   with   Ava;   identifying   me   as   ‘high   risk’   due   to   the complications   during   the   birth   with   Isaac   and   his   birth   weight   of   9lb   9oz.      The   pregnancy   second   time   around   had   gone   as   well   as   the   first   time   and finally I went in to labour eight days over my due date.   It   was   like   history   repeating   itself   with   another   long   labour   of   18   hours   but   this   time   I   didn’t   need   the   pain   relief   as   before   as   the   final   stage   of   labour came quickly and Ava was born weighing 8lb 10oz on the 14th May 2010, 10.50pm. I was so happy that the birth had gone so well and I remember turning to my husband, Michael, who was crying, looking very overwhelmed. Whilst   one   midwife   took Ava   to   weigh   and   wrap   her,   two   midwives   stood   looking   at   each   other   looking   concerned.      I   panicked   as   I   thought   it   was   going to   be   the   same   story   and   I’d   have   to   go   back   down   to   theatre   to   have   the   placenta   removed   so   I   asked   them   if   everything   was   okay   and   they   told   me   it was   fine.      It   was   when   they   brought   Ava   to   me   and   the   midwife   was   trying   to   put   her   on   my   skin   that   I   first   noticed   her   body   seemed   to   have   a   huge mark   on   it.      Her   skin   was   pink   and   the   mark   appeared   to   be   dark   purple;   covering   at   least   half   of   her   stomach   and   back,   down   to   her   thighs.      I   asked Michael   if   he   had   seen   it   and   he   nodded.      I   asked   the   midwives   what   it   was,   unsure   if   it   was   bruising   and   they   said   they   didn’t   know   but   it   looked   like   a birthmark.   At   that   moment   I   didn’t   care   if   it   was   a   birthmark,   but   I   wasn’t   convinced   that Ava   was   going   to   be   okay. When   I   held   her   I   noticed   she   had   smaller   birthmarks   on   her   face   and   scalp   too.      These   were   almost black.      This   seemed   unusual   as   I   had   never   seen   a   baby   with   anything   like   this   before.      It   seemed   the professionals   felt   the   same.      Moments   later,   we   were   surrounded   by   doctors   who   proceeded   to   take Ava to   a   changing   table   in   the   private   room   we   were   in,   whilst   Michael   and   I   were   left   confused,   scared   and   in slight shock.  We overheard the doctors talking about melanoma which made us extremely upset.  Michael   had   to   leave   as   it   was   very   late   but   it   was   so   sad   that   he   had   to   leave   with   no   answers.      It   was difficult   announcing   Ava’s   birth   to   family   and   friends   as   we   were   unsure   how   to   celebrate;   we   weren’t sure   she   was   going   to   be   okay.      So   Michael   left   to   see   his   family,   but   before   he   did,   a   midwife   said,   ‘Well at least you don’t need to worry about her having one night stands, Dad.’ We were appalled. The   next   morning   we   were   told   a   doctor   living   in   the   area   was   coming   in   especially   to   see   Ava.It   was then   that   we   were   informed   she   had   CMN   (Congenital   Melanocytic   Naevi);   that   in   the   thirty   years   he   had worked   in   the   region   he   had   never   seen   it   and   that   they   needed   to   speak   to   specialists   from   Birmingham Children’s   Hospital   and   Great   Ormond   Street   as   they   were   experts   in   this   very   rare   condition.     As   he   told us   of   Ava’s   diagnosis   he   showed   us   a   picture   in   a   very   old   book   which   he   compared   the   appearance   of Ava’s   ‘giant   trunk   birthmark’   with.      It   looked   exactly   like   Ava’s.      Using   such   resources   to   inform   us   was concerning!  Michael   and   I   made   a   promise   to   each   other   not   to   use   the   internet   to   find   out   more   on   CMN   following   the advice   of   the   doctors.      We   agreed   to   wait   for   further   information   from   the   experts   in   Birmingham   (Birmingham   was   our   first   choice   as   it   was   closer   to home).      My   first   night   home   I   waited   for   Michael   to   sleep   and   that’s   when   I   broke   my   promise.      I   wanted   to   know   what   we   were   going   to   deal   with;   I   had to   be   strong   for   Ava,   Michael,   Isaac,   my   family   and   prepare   myself   (and   family)   for   the   unknown.      To   describe   the   emotions   I   felt   that   night   is   difficult but to put it simply, I was heartbroken.  I wanted it all to be a dream.  How were we going to deal with this? What was going to be the outcome for Ava? In   the   early   days   it   was   very   difficult;   as   we   found   out   more   we   realised   it   was   potentially   life   threatening.     The   consultants   were   also   learning   more   and more   and   advised   us   that   there   could   be   complications   with   her   brain   and   talked   about   the   possibility   of   her   having   NCM   (Neurocutaneous   Melanosis) where   the   pigment-containing   cells   are   found   in   the   spinal   cord   and/or   brain.      All   of   the   information   was   huge   to   comprehend   and   it   felt   like   I   had   to detach   myself   emotionally   to   begin   to   understand   what   was   going   on.      When   we   tried   explaining   to   people   about Ava’s   condition   we   found   that   many chose   to   understand   it   merely   as   a   birthmark   and   that   our   concerns   were   simply   cosmetic.      I   found   that   very   frustrating.         It   became   more   obvious   how rare   the   condition   was   as   we   still   had   so   much   to   learn.      Days   after   her   birth, Ava   needed   to   have   medical   pictures   taken   and   there   was   a   bed   waiting for   her   at   Birmingham   Children’s   Hospital.      The   plan   was   to   have   the   top   layers   of   her   large   naevus   removed   (scraped   off)   to   reduce   the   risk   of malignant melanoma and to improve the appearance of her birthmark which covers approximately 70% of her body. I   remember   coming   off   the   phone   in   floods   of   tears   as   I   really   had   no   idea   what   we   were   about   to   put   her   through.      It   broke   my   heart   that   this   wasn’t   a day surgery matter (who was I kidding?) and we would have to leave behind Isaac too.  I had no clue.  Of course, I just wanted the best for Ava. Three   weeks   after   her   birth   we   went   to   Birmingham   and   the   Professor   there   took   a   huge   weight   off   our   shoulders.      Because   she   knew   so   much   about CMN   it   was   a   relief   just   to   hear   her   speak   positively   about   many   cases.      She   decided   that   there   would   actually   be   more   cons   than   pros   if   we   were   to go ahead with surgery but it was our choice.  There was no evidence that it was going to help Ava or reduce the risk of malignant melanoma. I couldn’t wait to get back in the car for the 3 and a half hours drive back home.  There was no way we were going to take the huge risks and for what? The   next   steps   were   to   observe   her   development   and   watch   out   for   any   signs   of   sickness.      It   was   terrible   when Ava   was   sick   as   Michael   and   I   would worry   if   it   was   the   beginning   of   something   terrible   developing.      I   went   back   to   work   and   vowed   to   ‘get   on’   to   try   and   keep   everything   as   normal   as possible.     Ava   had   regular   checks   as   babies   do.      Her   health   visitor   became   concerned   about   her   flat   head; Ava   slept   so   well   during   the   day   we   would often   need   to   wake   her.      This   became   a   concern   as   we   would   worry   this   was   linked   to   her   CMN.      Following   that Ava   was   referred   for   physiotherapy   as the   health   visitor   was   concerned   about Ava   being   reluctant   to   bear   weight.     Ava   crawled   much   later   than   her   brother   and   now   as   time   went   on   we   soon felt   the   pressure   for Ava   to   begin   walking.      We   tried   not   to   worry   if   it   was   linked   with   her   CMN   and   tried   to   put   it   down   to   her   being   a   late   developer   but the physiotherapy sessions continued until she started walking. We   tried   using   various   creams   on   Ava’s   skin   as   she   would   thrust   her   body   and   rub   her   back   in   her   cot.      Her   skin   was   breaking   and   very   dry   so   we needed to apply steroid creams.  We’d get various advice on this but we decided to stick to the advice of the CMN specialists!!! Ava   had   three   operations   at   Birmingham   Children’s   Hospital   to   remove   the   largest   of   the   smaller   birthmarks   on   her   face   and   foot.      One   on   her   face   had to   be   done   in   two   steps.     Ava   was   given   gas   to   make   her   sleep   before   they   gave   her   the   anaesthetic.      We   cried   when   she   went   to   theatre   each   time but we had to keep thinking about what she would want.  It is difficult to make such decisions when all we want is the best for Ava. When   Ava   had   turned   one   year   old   I   had   a   call   from   my   mother-in-law   about   something   she   had   seen   on   TV.      A   young   lady,   Jodi,   appeared   on   ’60 second makeover’ and put forward her sister’s name to thank her for helping her deal with her life threatening condition.  It was CMN. She   recorded   the   episode   for   me   so   I   listened   carefully   to   what   Jodi   had   to   say   about   it.      It   was   amazing   to   hear   someone   talk   about   the   condition   with experience!  It was then that I learned about Caring Matters Now as Jodi founded the charity. I   searched   on   the   internet   and   I   came   across   so   much   more   information!   It   had   contact   details   of   local   members   who   support   families   and   it   even   had a   Facebook   page   for   families   of   those   suffering   with   CMN.      I   immediately   called   our   closest   contact   in   Bridlington   when   I   was   told   to   immediately   refer Ava   to   Great   Ormond   Street   Hospital.   So   I   did!      It   wasn’t   simple;   it   took   a   bit   of   paperwork   and   many   phone   calls   to   different   health   professionals   but the day finally came for her first appointment there.  Doctor   Kinsler   was   amazing.      She   got   information   from   Birmingham   and   knew   a   lot   about Ava.   On   our   first   visit   we   spent   a   long   time   having   pictures taken.      Ava   also   needed   an   x-ray   to   check   the   shape   of   her   head.      Even   simple   procedures   were   difficult;   Ava   was   very   young   and   wanted   to   move about.      We   had   to   grip   her   and   hold   her   down   to   have   pictures   taken   and   x-rays   whilst   she screamed   and   cried.      The   next   evening   we   received   a   phone   call   to   go   back   to   Great   Ormond Street   a   week   later.      Ava   was   sedated   to   have   an   MRI   to   make   sure   her   brain   was   normal.      It wasn’t   pleasant   watching   Ava   fight   the   drugs,   we   had   to   grip   her   to   stop   her   from   hitting everyone around the bed but finally she came back to recovery and she was fine on waking. It   was   an   awful   time   waiting   for   the   results.      During   that   time   I   found   a   lump   on   Ava’s   back.      It was   huge.   I   couldn’t   believe   one   day   there   was   nothing   and   the   next   a   lump   so   big   appeared.   I called    Great    Ormond    Street    where    they    offered    me    an    immediate    appointment    or    as    an alternative   to   get   it   checked   locally.      Whilst   I   was   on   the   phone   they   told   me   they   also   had   the results   back   from   the   MRI…it   was   normal.      What   a   HUGE   relief.      It   was   strange   that   I   felt   like   I wanted   to   be   so   happy   but   now   we   were   dealing   with   something   else   I   was   scared   to   celebrate.     Ava   had   to   have   an   ultrasound   scan   which   was   extremely   difficult.   She   screamed   as   Michael had   to   hold   her   down   on   the   bed.      The   results   were   difficult   to   interpret   as   they   felt   they   were unclear   due   to Ava   being   so   traumatised   and   not   being   still.      We   were   relieved   to   hear   that   this lump was completely normal with CMN and in fact in a very common place. Last   year,   Doctor   Kinsler   told   us   that   Ava   has   CMN   syndrome   which   is   the   term   they   are   using now    so    all    health    professionals    understand    that    Ava    has    CMN    with    the    exact    facial characteristics   too.      Doctor   Kinsler   is   tracking Ava’s   growth   as   she   is   growing   rapidly   for   her   age which is the focus for current studies linked to CMN. More   recently   Ava   has   had   extensive   problems   with   her   dry   skin.      She   now   uses   3   different strengths   of   steroid   creams   when   it’s   at   its   worst   as   well   as   her   emollient   during   the   day.      She also   has   medicine   to   make   her   drowsy   each   night   to   stop   her   from   scratching   so   much   and   to   ensure   she   gets   a   good   sleep   as   until   now   we   have   had sleepless nights since birth. Dealing   with   rude   comments   about Ava’s   naevi   has   got   easier   over   time;   each   time   we   are   out   as   a   whole   family   Michael   and   I   expect   a   comment   as this   is   all   we   have   experienced   since Ava   was   born.      I   have   never   tried   to   hide Ava’s   condition.      I   was   offered   private   checks   at   home   when Ava   was   a baby but I refused and stripped her at the clinic for her weight checks like other parents do. Moving house became a huge priority for us as we wanted to make sure Ava would be surrounded by caring and supportive staff at school. We   would   want   that   anyway,   but   knowing   how   supportive   everyone   is   at   Throston   Primary   School   where   I   work,   Michael   and   I   agreed   that   it   would   be easier for Ava whilst at school to be where I am and also where close friends to me are.  Their support has been invaluable. Ava’s   development   has   been   much   slower   than   average   and   we’re   trying   to   put   all   the   right   steps   in   place   for   her   but   we   are   just   amazed   by   her resilience.      She   is   growing   up   to   be   a   happy   and   confident   girl   and   that   is   all   we   want.      We   know   we   are   very   lucky,   not   forgetting   to   be   mindful   of foreseeable problems. Michael   and   I   have   found   some   stages   more   difficult   than   others   and   it   hasn’t   been   easy   at   all.   However, Ava   is   mighty   fine.      She   is   adorable   just   like her   brothers.      We   now   know   what   we   need   to   look   for   and   feel   reassured   knowing   we   can   make   a   phone   call   to   Great   Ormond   Street   Hospital   and   get an urgent appointment if we wish. Ava’s development and skin will continue to be monitored every 6 months at Great Ormond Street Hospital and at North Tees Hospital. I   cannot   imagine   going   through   this   process   without   the   help   from   this   charity.      When Ava   is   a   little   older   we   look   forward   to   attending   the   family   days organised   by   Caring   Matters   Now.      This   will   not   only   help   Michael   and   I   by   speaking   with   other   parents   going   through   the   same   but   it   will   help   Isaac understand   his   sister’s   condition   by   meeting   other   children   with   CMN.      Ultimately,   Ava   will   make   friends   for   life   who   she   can   share   experiences   with going through the same as her as she gets older.  None of this would be possible without Caring Matters Now.

Ava’s Story

By Emma Robins (Ava’s Mum) Published 2014
ABN: 23543860400
This information on this website is for general information purposes only. It is not intended as a medical reference. Please talk with your doctor for medical advice.