Hi everyone, we’re the Van Dam family from Australia. My name is Nyssa my husband Peter, and we have Bronte 13yrs and Archie our DNM1 baby has just turned 5. We also had a little boy in 2011 Caelan who unfortunately past away at birth. The geneticists have found no link to his passing and Archie’s condition. We are also expecting baby no 4 in Aug 2017.
Archie was born on 20/06/2012 a very healthy baby. Because of our complications with our previous baby Archie was delivered by caesarean at 38 weeks. He was a healthy 3640grams and 50cm long with no complications.
We first noticed something was wrong when he had a seizure after his 6 weeks vaccination. We took him to hospital but were told it was probably just a febrile convulsion due to having a temp after his needles. We kept moving forward as if nothing was wrong and didn’t really notice any problems until he was about 5 months old when he seemed to lose head control, stopped rolling and started doing some very strange movements. Not like seizures (so we thought at the time) but his head would just drop forward or back and his eyes would roll. He would do a succession of what we thought were startle reflexes.
I started to video these strange behaviour’s and took the video into my GP who immediately sent us to our Paediatrician who then sent us straight to hospital. This is where our long journey begins. After an MRI and an EEG he was initially diagnosed with Infantile Spasms and was then treated by using high dose steroids for 3 months (prednisolone). This did nothing besides make him irritable/overweight and lose any development that he had prior.
Since our first hospital visit we have trialled a succession of anti-epileptic meds including Sabril (Vegabatrin), Keppra (levetiracetam), Topomax (topiramate), Lamictal (lamotrigine), Frisium (clobazam) and Zonisamide. None of which have been successful in the prevention of his seizures. We have also trialled the ketogenic diet which did reduce seizures and helped us to wean some medications but after a year Archie’s health seemed to deteriorate so we have moved to a Modified Atkins Diet (MAD).
In November 2015 after being part of a genetic study through Sydney Children’s Hospital we finally had a diagnosis of DNM1. Archie’s mutation is c.709C.T, p.Arg237Trp. We were excited to finally find a reason for his seizures and developmental problems but were shocked at how rare the condition was.
We have been doing continual therapy with Archie since he was first admitted to hospital. Including Physiotherapy, Occupational Therapy and Speech Therapy. We have tried a lot of alternative therapies and medications and I think a combination is really working for him at the moment. His last EEG showed that his seizures were typical of Lennox-Gastaut syndrome (LGS). We’re not sure how this relates to DNM1 or is it just a general description for the types of seizures he is having, much like the initial infantile spasms diagnosis.
Last October he decided to sit up all by himself and is doing a lot of practising sitting to stand (with lots of help from us) he has started trying to use a walker but has only mastered going backwards. Overall Archie is a very happy boy who every few months has a bit of an unhappy week or so but picks up after that. His general health is good and he has started to eat more solid food and will try to self-feed (often missing his mouth – but he’s trying!).
Our family were really excited to finally find you all and you’re Dynamos! We are really looking forward to hearing all your stories and learning what types of therapies and medications you have all used for treatment.
Thanks Nyssa & Peter