Saturday, April 13, 2013

Syndromes without a name....

As everyone is now aware, today is national 'Undiagnosed Children's Awareness Day', so I thought I share some information about Lyla's unknown condition.

Lyla's symptom or abnormality list is a long one, some are quite obvious, some are only obvious to the doctors who are looking for them and some are internal, which are only know about through blood tests, scans, etc.  We have heard a number of possible diagnosis's for Lyla, some extremely rare, which many specialist were even unaware of, to some of the more common, like cerebral palsy.  Not one of these conditions Lyla shows enough or the right symptoms for, or tests have been performed and like many, for some reason, all come back as 'normal'.  We have said from the beginning  it is just 'Lyla Poppy Syndrome', which could well be the case.  

People have said to us an overall diagnosis doesn't change anything, that is true, in some ways, but a diagnosis can provide us with information that can assist us and Lyla in terms of care, treatment, medication, development, or outcomes.  A diagnosis may also provide us with the information we need to know before we decide to expand our family - is it genetic and what are the chances of this occurring again. 

Lyla's symptoms are congenital, meaning they were all present at birth, since then some have worsen while some are not quite as severe as they once were.  Here are Lyla's most obvious or visual symptoms list...

  • Brain formation - first thought to be Polymicrogyria is now Open Bilateral Opercular Syndrome, from my understanding it means the space that divides the left and right hemispheres is larger than normal.  This affects muscle functioning in the face and throat, like listed below.  There is some other brain abnormalities, which I cannot remember.
  • Eyes - ptosis (droopy upper eyelids) due to this, people often assume she is sleepy.  Ophthalmology is also convinced she cannot see - which is absolute bullish*t!  Next appointment is in May, so I will keep you updated.
  • Breathing 
    • Stridor - a loud, high pitched noise which is normally heard while inhaling.  Caused by a 'floppy larynx, it is not as obvious as it once was, which was with every breath, it is really only heard now when she is upset.
    • Airway spasm - discovered during a endoscope procedure
    • 'Blue episodes' - This for a LONG time, and still to this day, is one of the major issues we have; often triggered when Lyla is upset and is associated with the above to breathing problems and possibly her brain.  Lyla's airways start to close causing her to not get enough oxygen and turns blue.  Once, I have had to perform CPR on her because she didn't get a breath in, in time.   We now carry O2 with us in case. 
    • Apnoea - long space between breaths, usually happens while sleeping, and may be due to her brain not always reminding her to breathe. 
  • Feeding - Lyla has always been fed through a naso-gastric feeding tube, as she has no suck / swallow reflex.  One of the main questions I am asked by people is 'when will she eat normally'. This is really the million dollar question, but also the least of my worries.  It's not that she is not interested in eating, she just can't... She does not understand it, therefore can't.  There is also a chance of aspirating (inhaling in to her lungs), which has never actually be tested or confirmed, but for that reason we've been told to give her nothing orally.
  • Spasticity - in arms and legs, which causes increased muscle tone (stiffness - hypertonicity); involuntary movement (leg spams - clonus); limited & delayed movement; contractures. 
  • Scoliosis - Lyla's spine is curved and has worsened over time; she also has 2 forms of scoliosis - kyphosis (curve protruding out of her back) and right thoracic scoliosis (spine curving to the right).  Her right curve, when last scanned, was almost at an 80 degree curve, so quite severe. 
    • Hypotonicity in trunk (weak muscle tone)
  • Bilateral hip dysplasia - both hips are dislocated
  • Global developmental delay

Here are some 'Syndromes Without a Name' [SWAN] links 


  1. Lyla is a beautiful little girl blessed with wonderful parents and family, thankyou for sharing her journey with us Jess xxxx Love Sonya

  2. Love your blog Jess. I agree with Lyla's sight :-) Kylie N

  3. What a beautiful girl, you are truly blessed and she is so lucky to have you with such a positive attitude.
    I didn't know so many were undiagnosed. I know it may not change anything but a 'name' may help you explain her difficulties to others.
    Came here from tweet from mummy pinkwellies.
    I am mum to gemma who is nearly 3.she was a micro preemie who survived NEC and had an NG tube for 2 yes.we are so lucky she is doing well and no lasting problems.her NG and tiny size caused a lot of pitying looks and questions. Like you we were and are pleased she is alive that any issues to others we accepted and were grateful.
    Look forward to reading more about Lyla Poppy,what a beautiful name.

    Sam x

  4. Wow, although you probably have it down to a tee by now, I reckon you must be juggling a lot of things here - it's hard staying on the ball all the time where your child's health is concerned.
    She is one pretty chick, and you sound such supportive loving parents.
    Great that you are letting people share your story.