September 30, 2016 | Danielle W.
We are lucky, at least that’s how we feel after every visit to the children’s hospital. Our kids are mobile, they express love and snuggle, they giggle uncontrollably and look normal….. at first glance. We are lucky but we’re also challenged.
Jaeli was 15 months old, not walking or babbling as she should be, that alone is not unusual. However we also noticed very subtle eyelid flutters and eye rolls. The first Paediatrician we saw dismissed us as neurotic first-time parents and told us to go home. We were already pregnant again and dissatisfied with that advice. The next thing we did was the first step of our epic diagnostic journey.
We took our toddler to the emergency department of the Royal Children’s Hospital. Within an hour, our suspicions were confirmed, our baby had epileptic activity manifesting as eyelid myoclonus seizures. With this first clue, we thought epilepsy explained all of the symptoms, a belief we held for the next 3 years.
Intractable epilepsy – a medical term we became very familiar with. We watched our toddler’s seizures intensify and become more frequent, her sleep always disturbed, violent mood swings and self harming behaviour. Over 5 years, we have tried 15 different anti-convulsants, in the belief that they would help. Not only did the meds not help, more often than not the side effects were extremely damaging.
The only emotion worse than feeling helpless, unable to protect and help your child is the guilt of medicating them unnecessarily. We forced medicine into Jaeli in the belief that it would help her only to find it did more harm than good. The first anti-convulsant we tried caused toxicity in Jaeli after a few months and sent us to hospital.
We became very familiar with dosing, crushing, hiding and monitoring the efficacy and side effects of various medicines. By the time we had tried 10 anti-convulsants, Jaeli’s seizures were the worst they had ever been. She was having hundreds of seizures every day. She couldn’t eat or walk without suddenly dropping to the ground or flinging her food across the room. We were losing faith in Western medicine. We tried alternative therapies and the ketogenic diet- an extremely controlled diet requiring a hospital admission.
We saw three neurologists before finding a world leading clinician; Professor Ingrid Scheffer, several speech therapists, were lucky to find a fantastic OT, brilliant Paediatrician, Physiotherapist, Genetiscist, Behavioural Psychologist, Psychologist, Osteopath, Metabolic Doctor, Toxicologist, ENT, Chinese doctor, Environmental Doctor, Dietitians, we even reached out to modern medical detectives like Best Doctors and Crowdmed looking for a cause that would lead us to a magic cure.
The more specialists we saw, the longer our list of problems became. We found a long list of problems ranging from chronic obstructive sleep apnoea, poor motor planning, heavy metal toxicity, hypotonia, ataxia, PICA, sensory processing problems, autism and the list goes on. The more we found out, the more confused we were. With an unknown or rare condition, before being useful, every new clue raises the questions- is this relevant?, did we create this symptom inadvertently while trying to help?, is this just a side effect of one of the meds?
During this time, Dr google was not very useful.
We felt like we were racing the clock. The early years are so important for development and the longer the seizures persisted, the more damage was being done. Our vision of our normal little girl was slipping away with every failed anti-convulsant.
Dali hit all of her milestones in her first year of life but by the time she was one, we knew exactly what the subtle eye rolls meant. ‘Heart breaking’ doesn’t do the emotion justice but heart breaking is the only term that feels remotely apt. Instead of losing some of your heart when you go through an experience like this, it feels more like a weight- a chronic heaviness of heart and mind. One there is no relief of, or escape from. We had learnt a lot about what did and didn’t work with Jaeli but unfortunately the list was heavily skewed to what didn’t work. We still had no idea what we were dealing with or how to successfully treat it.
Now our list of challenges include; insomnia, intellectual disability, impulsiveness, ataxia, autism, severe speech difficulties, fine and gross motor problems, confusion, irrational behaviour, sensory issues, PICA, mood swings and epilepsy. All of this in 2 children. We are restricted in what we can do as a family but we try to have fun together and instil a sense of belonging and unconditional acceptance in the girls.
In February this year, following Whole Genome Sequencing on our family, we finally had a genetic reason for all of these challenges, SYNGAP. A six letter word that spelt the end of our search for the ‘Why’. We can now invest all of our energies in helping our children and in doing so, hope to help the other 100 SYNGAP families across the globe.
We are more informed now than we ever have been yet still so far from making a difference in our kids lives. Our dream is to change the status quo. We won’t accept this as our normal, we want our children to be happy, seizure-free, to be heard, to feel fulfilled and connected to their world.
Our journey in numbers
2 daughters, 12 symptoms, 4 seizure types, at worst – 52 seizures every hour, 16 trialled anti-convulsants, 2 diets, 5 homeopathic supplements, 20 specialists across 11 different specialities, 7 therapists, $50k spent looking for a cause, 5 years on the diagnostic odyssey, 1,775 disturbed and worried nights, > 250 appointments equalling 14 working weeks of appointments, 45 blood tests, 10 urine samples, 2 lumbar punctures, 600 blood ketone measures, 3 anaesthetics, 3 MRIs, 5 EEGs, 15 nights in hospitals, 2 sleep studies involving EEGs and 24/7 video monitoring, 2 visits to A&E, 1 ambulance ride, 22 differential diagnoses, 27 therapy and treatment ideas explored, 1 emotional roller coaster, 1 diagnosis & now real hope