My pregnancy with Matheus was without any problems - it was perfect from beginning to end. My husband and I enjoyed every one of the nine months waiting for Matheus to arrive.
Our much desired and loved baby was born on December 18, 2018, weighing 3.330 kilograms, 47 centimetres tall and with an Apgar score of 9/10 and a Capurro of 38 4/7. He was beautiful and perfect.
Matheus presented some difficulties to breastfeed, but we were discharged and went home to start our life as a new family.
Gradually Matheus learned to breastfeed but he suffered severe reflux which led to him losing weight. The paediatrician decided to prescribe an artificial anti-reflux milk formula in an effort to address the reflux problem.
At 3 months Matheus had tremors in his left leg and also made strange closing movements with his left hand. As I am a nurse, I soon realised that something was wrong. We took Matheus to see a neurologist and in his first EEG a slight epileptiform wave was detected. We continued monitoring Matheus and noticed that the strange movements were occurring with increased frequency. The neurologist requested a 12-hour Video EEG (VEEG) and 10 seizures were detected. At the conclusion of the examination, Matheus was started on Keppra but unfortunately his seizures worsened a lot. This lead to Matheus being hospitalised for being cyanotic and experiencing a drop in saturation.
During Matheus' hospitalisation, a big investigation ensued to determined the cause of the epilepsy. All the exams and diagnostics turned out normal. After Matheus' hospitalisation we changed his medication to Carbamazepine along with Phenobarbital and finally the seizures were brought under control.
Matheus developed a little slower than other babies, but he vocalised, smiled and had movements in his upper and lower limbs.
Matheus' neurologist requested a genetic test and we received the report in April 2019. The results confirmed that Matheus had Early Epileptic Encephalopathy 28 (EEIE28) also known as WOREE Syndrome as a reuslt of a mutation of the WWOX gene. The mutations were homozygous in nature (two exact copies - one from mum and one from dad). This was the worst news I've ever received in my life and my heart broke. I couldn't believe that this could be happening to my prince. I felt guilty because my husband and I were first cousins. However, through my research afterwards, I determined that most parents with children affected by WWOX are not consanguineous.
I did a lot of research and went to see several doctors and each time we heard that it was a rare disease without treatment or cure at the moment. Through my research I found Karen Pratt in the US, another parent with children affected by WWOX mutations. Karen was always very generous with her time and we exchanged lots of information about our boys. I then found others parents through the internet and eventually found the WWOX Foundation and the WWOX Parent Support Group on Facebook.
Each time Matheus reached another weight milestone, his seizures returned and the doses of his anticonvulsant medications needed to be adjusted.
Matheus is currently treated with Carbamazepine, Gardenal (Phenobarbital), Pyridoxin (Vitamin B6), Vitamin D, Omega 3, Vitamin and Amino Acid Supplements made specifically for his needs. He also has Probiotics and a Vegan Protein called Whey Protein here in Brazil. He also uses Flixotide spray of which he takes two puffs twice a day to protect the lungs.
Matheus receives Physiotherapy, Phonotherapy, Occupational Therapy and Acupuncture on a regular basis. He also has monthly consultations with his Paediatrician, Neurologist and Genetic Nutritionist.
Over the months Matheus has stopped vocalising and nowadays he doesn't move too much. He has also developed scoliosis. I believe that all the medications also have a negative influence on development delay.
Matheus likes toys with lights, high-pitched noises and vibrating toys
Matheus is a lovely, beautiful and caring baby and we fight each day to improve his quality of life.
I believe that the battle with WWOX is great but our victory