Macy was born via an elective c section due to breech presentation on the 16th October 2019.
I had a relatively good pregnancy besides some horrible morning sickness in the first 18 weeks. However, at my 32 weeks scan it was picked up that Macy was in the 97th percentile and it looked like she had mild ventriculomegaly. We paid for private scans through a top ultrasound provider here in Western Australia and they confirmed that there was nothing wrong and we were reassured at 32 weeks and again at 36 weeks that Macy was a healthy baby.
Macy was born at 4,540 grams and was extremely puffy and swollen. Her Apgar scores were 9 & 9, she breastfed straight away and seemed like a very chilled “easy” baby. The only strange thing was that she didn’t cry. Twelve hours after Macy was born the midwife came in to help lift Macy out of the bassinet and put her on me for a feed and it was at this time that we noticed something was not right. Macy was shallow breathing and her eyes were deviating and shaking, she was taken to the nursery where it was confirmed her blood sugar levels were low.
This continued in to the next day and the midwives were unable to maintain her sugar levels. She was also twitching a lot and we thought this was due to her sugar levels. Little did we know she was having seizures. Macy was taken in an ambulance to Perth Children’s Hospital 36 hours after she was born. Before Macy was placed in the ambulance, she started lip smacking, eyes shaking and her arms and legs were jolting. It was apparent something wasn’t quite right.
The next few days at PCH felt like a blur. Macy had every test done, including a lumbar puncture at not even 48 hours old. The results came back that her white blood count seemed high so she was started on medication to treat meningitis whilst a bacteria sample grew in the lab over the weekend. An ultrasound also showed small pockets of fluid in her brain.
Macy was connected to an EEG machine that was on 24/7 to ensure she wasn’t having seizures, but it showed that she was having minor seizures that were only lasting 5 seconds. She was placed on a seizure medication. The EEGs also showed that Macy had “bland” background activity. She never really moved and just laid there with her legs in a frog like position.
On the Monday it was confirmed that she didn’t have meningitis so an MRI was done, I remember us waiting so anxiously for these results. On the Tuesday afternoon we were called into a private room with two doctors, there was a brain model on the table and the doctor explained that Macy's MRI showed a thin corpus collosum, reduced white matter and what they explained as thicker grooves in one section of her brain - likely due to an underlying genetic condition.
That was probably the worst moment of our lives. I can’t even describe the pain and heartbreak we felt. Blood was taken from Macy and sent to Genetics WA for genetic testing to be done. We met with the genetics team here in Perth who originally suspected that Macy may have an overgrowth syndrome so they would start the testing there.
The next week at PCH consisted of more EEG’s which showed no apparent seizure like activity, blood tests, eye tests, physio, ultrasounds etc. before we were finally discharged 10 days later and on our way home.
The following week we presented to the emergency department once again as every time we fed Macy, milk would just pour out of her mouth from 10 minutes to 2 hours after a feed and this was EVERY FEED. We were sent home with a feeding plan but nothing improved. Macy would twitch a lot and make these jerky movements all the time, her eyes would also look to the right and shake side to side. She also slept a lot, and still hardy moved.
The week after we went to emergency twice in regards to her feeding. She was not keeping anything down and on the third time we were admitted to the ward, we met Macy's dietitian and speech therapist who added a milk thickener and a slow teat for her bottle. Three days later we were discharged with another “plan” to try help her feeding.
We persevered for a few weeks at home trying the feeding plan but nothing improved and Macy had gained around 100 grams in 4 weeks, she wasn’t even back at her birth weight.
The last week of November we were admitted to PCH for the third time for a total of 9 days this time. Another EEG was done as Macy was very unresponsive and "out of it". It was picked up in this EEG that Macy was having seizures. We were discharged with a seizure medication and a new feeding plan, and were told to watch her closely.
Six days later things got worse. It was becoming more evident that Macy was unable to swallow milk as it seemed to just pour back out under-digested, and she couldn’t even tolerate her medication. She was also having seizures that lasted around 10-15 seconds and came in clusters.
Another trip to emergency followed where we were admitted for the 4th time. Macy had seizure after seizure. More EEGs were done, including an overnight EEG. A large dose of seizure medication was given but Macy was still having seizures. She slept for 3 days and hardly moved during this time… Things were not looking good. However on the 4th day the medication seemed to be working and Macy was a lot more alert and kicking her legs around.
We asked Macy's neurologist if Macy reminded her of any other patients she may have treated in the past. She said Macy reminded her of a little girl who unfortunately passed away. If Macy had had the same condition as this child it would be extremely rare. It was clear that Macy would have to be tube fed due to her low muscle tone. We were sent home with two seizure medications and we learnt how to tube feed Macy.
The next 8 days at home Macy was on continuous feeds which she tolerated and she was slowly putting on weight. We didn’t notice any further seizure activity. However, it is likely Macy did have seizures when asleep or just lying there of which we were not aware of. Things took a turn for the worse in the week leading up to Christmas and we were once again back in the emergency department. After spending a day in emergency ward we were told to increase the dose of one of her medications and were sent on our way. Over the next 9 days Macy had over 50 seizures a day from what we could see. We tried our best to manage this from home while speaking to the neurology doctors. We unfortunately couldn’t control the seizures and we were once again admitted to hospital. Another anticonvulsant medication was added which helped and after 4 days we were sent home.
Each hospital admission seemed to get harder and harder as it reconfirmed that there was something seriously wrong. We had heard it all at this point - that our child wouldn’t be able to do anything, that she will be extremely disabled and probably not live for very long. We really needed an answer. We needed to know what exactly Macy suffered from.
The month of January was a better month for Macy. She was now on 4 hourly bolus feeds which she tolerated. The medication also seemed to be helping. She started to vocalise a bit and moved a little more with some days better than others. However, at the end of January Macy's seizures returned. They were now lasting for longer that 3 minutes and struck in horrible clusters of seizures. Once again we were readmitted to PCH and a fourth seizure medication was added.
At the end of February, we received a call to meet Macy's neurologist as her genetic test results were back. The tests confirmed that she had WOREE syndrome. We were devastated. Nothing quite prepares you for that news but we were also relieved that we finally had some answers. We are extremely grateful that the neurologist who was allocated to Macy had treated another girl with WOREE syndrome and was able to pick this up so early.
Macy is unable to sit, roll, has no head control, vocalise, grab things, she has paucity of movement (hardly moves), she still has seizures and has now started having infantile spasms.
She has scoliosis and rib hump which is quite bad for her age, respiratory issues and is tube fed.
The last 6 months have consisted with half of our time spent at Perth Children’s Hospital with either admissions, emergency visits or appointments. Macy is part of the early intervention program at Perth Children’s Hospital here in WA and they have provided amazing support to us and Macy, she receives physio, OT & Speech.
It’s been a crazy whirlwind and not the journey we ever expected, nothing prepares you for this, to say this has been the hardest 6 months of our lives would be an understatement.
We have learnt that we have to take the good with the bad and really just enjoy every moment we have with her as we don’t know what the next day will bring. Macy LOVES cuddles and will really cuddle into you, she is obsessed with chewing on her hands and will wake you up at all hours of the night with her loud chewing, she loves music and laying under her play mat listening to all the different sounds, she loves going for walks and having the fresh air blow in her face, she also gives the most amazing beautiful smiles and will stare at you with her big beautiful eyes, she is generally really happy and that’s all we can ask for.
She is the sweetest little soul and we will do absolutely anything for her, we haven’t lost hope and do hope that one day soon maybe not in Macy’s time that there will be a cure for WWOX.
We hope that by sharing our journey and raising awareness it may help other families out there going through the same thing, I know we have found great comfort in talking with other families with WWOX.