Why the phrase "Curiosity Killed the Cat" Haunts Me

Seven years old…our son.  Bilateral Persylvian Polymicrogyria, Lennox Gastaut Syndrome, Polymerase Gamma 1 Mitochondrial Disorder, Osteogenesis Imperfecta, Nephrocalcinosis, Neurogenic Bladder, Dysphagia, progressive, degenerative, palliative, terminal…our son.  Cute as a button, infectious laughter, extra-long eyelashes, blushed cheeks, prefers blondes, lover of country music, baseball player, first grader, wordless but wise, morning person…our son.  Feeding tube, bowel management program, cathing regimen, ventilator dependent, suctioning needs, tracheostomy tube, percussion vest treatments, wheelchair, fifteen specialty physicians, therapies, therapies, and more therapies…our son.

Dog?  Not our son.  Cat?  Not our son.  Family pet?  Not our son.

Parenting a child with so many complex medical needs has made my husband and me no strangers to well-intentioned but rather ignorantly blissful commentary about our son.  Somehow I still struggle to wrap my mind around how well-meaning people find common ground with our “plight” by comparing my son’s struggles to the struggles and needs of their beloved pets?  I understand that we are not always terribly relatable, and that sometimes the effort to be relatable is just that - effort.  However, I am never receptive <understatement of the century> to the notion that somehow my son’s sensory seeking behaviors – like his love of chewing his fingers nearly to the bone – are somehow the same motivations that your beloved “Fluffy” has for chewing.  By the way, shopping at the local pet-store for “chew toys” for my son is not something we will ever do, but thank you for the kind suggestion and we are thrilled that you were able to find some long-lasting squeaky toys for “tough chewers” like Fluffy.

I have established that our son is not your pet – he is not our pet either –he is an awesome little human being with infinite value who has taught us a lot about love and acceptance and I fear he is beginning  the end of his courageous battle against mitochondrial disease.   So why exactly does the phrase “Curiosity Killed the Cat” haunt me in the darkest recesses of my very sleep-deprived brain?  The same places where I store up the seemingly endless nonsensical scenarios of doom which always involve breaking my two front teeth in half or my irrational anxiety of  burning the house down because I threw a piece of burnt toast in the trash and maybe I threw it on top of a dry paper towel which might spark and catch on fire which will then result in our house turning into a pile of ashy dust and what insurance company will cover a house burnt down by toast???  <deep cleansing breath>

Seven years of countless tests, hospitalizations, procedures – DIAGNOSES - more tests, more procedures, more hospitalizations and now we come full circle investigating yet again for more diagnoses to explain possibly another rare condition without a cure.  What is it that drives our rather fierce need to know even when we are well aware that nothing will change the outcomes?

This week my husband and I were given the “option” of having a sedated brain MRI for our son to investigate some new symptoms that have recently developed - mainly some really disturbing muscle spasms, neuropathy, and increased seizures of a variety we have never experienced with our son and we thought we had experienced every seizure known to the medical world: tonic, tonic clonic, complex partial, infantile spasms, grand mal, subclinical, myoclonic, absence, status epilepticus…but what in the heck are these facial-like seizures??  Are these seizures at all?  We wanted to know, but sedation and mitochondrial disease do not play nicely together and after some fairly unfortunate past sedation attempts we are hard pressed to find an anesthesiologist – even in one of the top children’s hospitals in the world – who will sedate our son unless it is a life or death situation.  Is this life or death?  Well, we don’t know??  Maybe?  To us, yes?  The advice of many of our son’s trusted physicians against further investigation left us confused, and for the first time during our seven years as parents, left us somewhat hopeless.  Was our medical team so sure that the risks of further testing far outweighed the benefits of knowing a little bit more about disease trajectory?  Was the potential to perhaps slow disease progression not enough to take the risk?  For the first time ever, our son suddenly felt like a cat, and were we really going to kill him just out of curiosity??  Was our “NEED TO KNOW” actually going to kill our son, when all we have ever wanted was to save him, desperately so?

I was having an existential crisis about my own son who I had established LONG AGO was definitely not a dog, and definitely not a cat, despite the failed attempts from others to equate him as such, but who doesn’t know that “curiosity killed the cat”??  For a moment I thought, well CRAP, did our doctors think Owen was a cat too?  I don’t even LIKE cats!!!!  My husband and I found ourselves just sitting there in clinic staring at each other, hunched over, staring at the doctors, staring at each other, staring out the windows, staring at the bleak tan walls decorated with whimsical pictures painted and drawn by able-bodied children, children whom my son would never become  – and there it was a drawing of a patchwork cat.  We continued to sit there as wordless as our son - but definitely not as wise (and I swore I could smell toast burning down the hall).  Perhaps our son was a patchwork cat?  Perhaps we intimately knew about some of the pieces of who he was, but that we would never know what the red spotted patch, the yellow zigzag patch, or green striped patch were truly made of?  Would it matter if we knew?   Would it change that he is still a patchwork cat made up of many different materials and fabrics.

Somehow we found ourselves in a ship that always seemed to have a good sense of direction, even in the stormiest seas, but all of the sudden it felt like we were sinking.  The decision was laid fully on us about diagnostic testing and the admirals of our ship – our trusted physicians - wanted nothing to do with the direction we wanted to sail.

“How do you want to proceed mom and dad?”
"It is up to you mom and dad?”
"You understand the risks don’t you mom and dad?”
"You understand this won’t change the outcomes of his disease mom and dad?”
"Mom...mom...mom...mom...mom???"

Why can’t they ever look at dad or say dad first?  Oh the pressure!  I ran my tongue roughly across my two front teeth to make sure they were still steadfast in place.  The agonizing, aching, anxiety swelled up in the pit of my stomach as I said, “I want to know, let's do the testing”.

Today, our son had a sedated MRI and we are awaiting the results, the results that will not change the outcomes of my son’s life, but results that might help us know if we need to change the direction of our ship even if it is against the advice of our admirals.  The results that may or may not help us better define the green striped patch on our patchwork cat.  Our quirky little man is smiling and doing well post sedation and desperately showing everyone who enters his room his IV site and how much he is “suffering” from it with a rather dramatic furrowed brow and IV arm waving in the air.  We are thankful he did well.  We are thankful we made the decision even without our physicians approval, because our son is not a cat.  He is Owen.  Our son, with many patches - some we know very well - and others we will likely never understand the fabric of which they are made.  Curiosity killed the cat…but our son is not a cat.



Fellow Mommies of Miracles, when it comes to our most medically fragile children...do you think we will have the wisdom and discernment to know when to say "enough is enough"?  Should we ever say it?  Should we resist our need to "know" if we also know that the outcomes will remain unchanged?  How do we weigh risk when the stakes are already so high?  Please comment and discuss.

Searching for a Diagnosis - Hints and Tips

Some children with special needs may receive a diagnosis very early in life. Either in-utero, or at birth. If a child has obvious physical or medical issues such as a heart defect, a cleft palate, or respiratory issues, then a thorough medical “work-up” is generally undertaken. Some of these children may go home from hospital with a diagnosis in place.

For others, the road to a diagnosis can be a long and difficult one.

“Not all genetic or developmental difficulties are obvious in-utero or at birth” says geneticist and pediatrician Dr David Coman. You might start to suspect a problem because your baby has difficulties with feeding, won't make eye contact, has difficulties with sleeping, isn’t meeting developmental milestones or perhaps has started to regress.

Some parents may quickly recognise a problem, and immediately start to seek answers. Other parents may take longer before they begin to look for answers. This can be due to a range of factors, including the severity of your child's symptoms, awareness of normal developmental milestones, and available supports. If doctors are dismissing your concerns with words like “she's just a slow developer”, “he's just a fussy baby” or 'boys can take longer than girls”, then it can be easy to brush your concerns under the carpet. After all, most of us have been brought up to believe that those in positions of authority know best. That doctors have the answers. That if there is something wrong, they will recognise it and diagnose it. Unfortunately that is not always true. As the parent of a child with special needs, you will more than likely find yourself having to push for answers, question those in authority, and ask for second, third or fourth opinions.

Familiarise yourself with normal developmental milestones. The internet can be a valuable tool for this. There are many available resources that you can access simply by searching for “developmental milestones”. The “Milestone Moments” booklet is one example of such a resource. This booklet is published by the Center for Disease Control and Prevention, and developed in conjunction with the American Academy of Pediatrics. It contains great detail, including “red flags” for developmental delay, and hints and tips on how to encourage your child's development.

While early difficulties don’t always mean your child will have ongoing problems, according to Dr Coman, “developmental delay is always a red flag that should prompt input from a medical professional. It can be ‘global’ in that it affects all aspects of the child’s development (fine motor, gross motor, social, speech and language skills), or it can be confined to specific developmental fields.”

Also, trust your intuition. If you feel that all is 'not quite right' with your child, then reach out, get the ball rolling, and start looking for answers.

Sometimes it may be difficult to reach out – you might be afraid to have your suspicions confirmed. But denial and avoidance won’t help your child. While none of us dream of having a child with special needs, having a diagnosis for your child can be useful for many reasons. It can help you to know what medical issues may need to be monitored. It may give you some understanding of the long term prognosis for your child, and specific challenges your child is likely to face. It can help you to access appropriate early intervention and supports. And it can allow you to connect with other parents who have children with the same condition, so you can share your highs and lows, exchange hints and tips, and benefit from the knowledge of families on the same journey. Don't be afraid to reach out and search for answers. If your child does indeed have special needs, there is much to be gained by knowing exactly what you are dealing with.

Finding Help

If you suspect that your child may have some genetic or developmental disorder, speak to your GP or pediatrician. Come to the appointment with a written list of your specific concerns. Request a referral to a developmental pediatrician or geneticist.

Your doctor may brush off your concerns and suggest that you return in a few months time, so they can better determine whether a referral is necessary. This may be your first taste of experiencing what it is like to have to advocate for your child. Trust your instincts. Time is precious. Early intervention is invaluable. If you believe that further investigation is required, put your foot down. Insist on a referral, and don't leave until you have one in hand.

Prepare carefully for your specialist appointments. Write a list of your specific concerns, including developmental and physical issues, as well as behavioral problems. Simple dot point lists, separated by headers, are generally easier to read than long paragraphs. It is recommended that you include the following categories:

• Details of pregnancy and birth


• Your child’s developmental milestones and when they were attained


• Any physical anomalies you have noticed


• Behavioral problems


• Feeding Issues


• Sleeping Issues


• Family history

It can also be useful to take health records and pictures of your child at varying ages to the appointment. For older children, information from the preschool or school can be extremely valuable.

Update the information on a regular basis and give a copy to every specialist that you see.

Take notice of the specialist's reaction to the information that you have prepared. Are they interested in reading it? Grateful that you have taken the time to prepare? Or do they seem annoyed by your diligence, and treat you as an over concerned parent? If you believe your doctor isn’t taking your concerns seriously, consider finding another doctor. “You shouldn’t feel afraid to voice your concerns,” Dr Coman says, “and know there are no silly questions.”

Keep records of each of your appointments, who you saw, and the reason for the appointment. The number of appointments you need to attend may grow quite quickly. It can be helpful to keep good records from the start, rather than trying to “piece it all together” later down the track. The “Appointment Log” template, developed by Mommies of Miracles, is a great tool for this purpose.

Sometimes (often!) you may find that doctors have long waiting lists. When time is ticking away, and you are desperate for answers, this can be really disheartening. Some tips that may help you to get in the door more quickly:

• Always speak kindly to the medical receptionists - they are the gateway to the doctor.


• Ask to be placed on the cancellations list. This can sometimes reduce your waiting time by months.


• Once on the cancellations list, ring back every few weeks and politely enquire as to whether there have been any cancellations.


• Ask for email or postal details. Send in your dot point list outlining your child's issues. Include a cover letter stating how concerned you are about your child, the impact that not having a diagnosis is having on your family, and your concern that your child is not receiving appropriate early intervention. In one instance, we were told we could expect to wait between 12 and 18 months to be seen by a specialist Child Development Clinic. After I sent my pleading (yet polite) email, including the long list of Sophie's issues, we were given an appointment within two weeks!

If you aren’t getting answers, don’t give up. It took several general practitioners, two pediatricians, a developmental pediatrician, a speech therapist, occupational therapist, physiotherapist, audiologist, ophthalmologist, pediatric dentist, two hospital admissions, a visit to the ER, countless hours of internet research and three geneticists for us to finally obtain Sophie's Kabuki diagnosis when she was 20 months old. It took another year before we obtained her Asperger's diagnosis. During the course of that time I was accused of many things, including being a neurotic first time mother, being over-concerned due to having post natal depression, and, believe it or not, “delusional” because I thought that my child had a genetic disorder. I started to question myself. If all these doctors thought Sophie was fine, perhaps I really WAS crazy! But I knew in my mother's heart that something was wrong. So we kept looking until we found doctors who were prepared to listen and take us seriously. For us, persistence was key.

Research on the internet, talk to other parents, keep looking for answers. By the time we received Sophie's diagnosis I was an expert at “Dr Googling”. Some doctors were frustrated by my insistence on trying to find answers on the internet. But researching can help you to become familiar with medical terminology, to rule out some syndromes, and to find ways in which you can help your child's development without having a diagnosis. We found doctors who were happy to listen to the information we had discovered. And ultimately, those were the doctors who put us on the road to a diagnosis.

If you do receive a diagnosis, you may find yourself experiencing mixed emotions. Even though I had fought so hard to find answers, I shed some tears when we received Sophie’s official diagnosis. It was undeniable now. This was not something that was ever going to go away. The diagnosis was a mixed blessing. It destroyed that final bit of hope that perhaps I was overreacting and everything would be okay, but there was definite relief. I could finally stop searching for answers. And receiving a diagnosis restored my faith in my “mother’s instincts”.

Remember - a diagnosis doesn't change who your child is. He or she is still the same child, with the same likes, dislikes, strengths, weaknesses and cute quirks they have always had. The things you love about your child remain, regardless of what their diagnosis may be. A diagnosis does not change your child – it gives you the ability to educate yourself about your child’s condition, and to take appropriate steps to help them reach their full potential.

Before finishing up this post, I'd like to reach out to those parents who may have been searching and searching, and still haven’t been able to obtain a diagnosis for their child. Unfortunately, some children will remain “medical mysteries', despite all your best efforts at finding answers, and even with the best doctors on board. While I can't imagine how difficult this must be, never forget that there is plenty that can be done to help your child even without a diagnosis. Prior to Sophie's diagnosis, we simply had to work on a “treat the symptoms” basis. Physiotherapy, occupational therapy, speech therapy, horse riding therapy, behavioral therapy. All of these things and more can be done without a diagnosis. There are also support groups for parents who have a child without a diagnosis, including Syndromes Without a Name (SWAN) USA, and the Facebook forum “Syndromes Without A Name (SWAN) International”. You are not alone! The fact that you are looking for answers shows you want the best for your child. With your love and support, your child will reach their highest potential, with or without a diagnosis.

If you would like to read more about our journey to a diagnosis, I would be honored for you to follow our journey on my personal blog about Sophie.

Blessings to all.