We are a family of 4 people Kátia Cristina, my husband Neilton Pimentel, my daughter Letícia Pimentel and our handsome 14 year old boy Pablo Matheus. We live in São Paulo, Brazil.
Apart from morning sickness, my pregnancy with Pablo Matheus went very well apart from the 7th month when I contracted a urinary tract infection. I had to rest to ensure that Pablo Matheus would be born prematurely.
Pablo Matheus was born in June 2006 weighing 3,190 kilos, 48 cm tall with an Apgar score of 9/10 and a Capurro score of 39. He spent his first night in the neo-natal ICU as he was suffering from reflux but we were discharged the next day as the reflux improved.
When we arrived home, Pablo Matheus did not exhibit any major issues. He was a very peaceful baby and it was very rare to see him cry. He did however experience some difficulty breastfeeding and would spit up some milk after each feed. It was only after he had his first consultation with a paediatrician that a scintigraphy exam was ordered to assess for the presence of reflux. The result was positive and he started taking a medication called Digesan.
At the age of 4 months Pablo Matheus had his first seizure and my world collapsed. He became cyanotic we immediately rushed him to the emergency room and he went straight to the ICU. I was so afraid to see my baby full of devices. He spent 10 days in the ICU and a further 9 days in the hospital. The doctors prescribed Phenobarbital and we were discharged and went home feeling very insecure and in fear. Pablo Matheus remained seizure free for 2 months.
After this brief reprieve, Pablo Matheus’ seizures returned. We once again rushed him to see the doctors and several tests were done but all came back normal. He was prescribed many other anticonvulsants and our journey of hospital admission after hospital admission started. He was intubated 3 times while he was a baby and for 5 years we spent more time at the hospital than at home. My daughter who was already 5 years old at the time had to stay with relatives because I was not able to be home with her.
A neurologist from our health insurance company referred me to a teaching hospital here in São Paulo, where they had a specialist epilepsy department. Even though Pablo Matheus was being treated at this teaching hospital for 12 years, nothing really helped and the root cause of his condition was still unknown. The only thing that was done through the years was to increase the dosage of Pablo Matheus’ medication.
At the age of 3 I decided to enrol Pablo Matheus in school even though it was very difficult for me to leave my little one at school. As the years passed, the intensity of the seizures reduced although we still didn’t have seizure control. Pablo Matheus continue to have more than 10 seizures a day. We continued to make changes to his medications to try and reduce their frequency.
Despite all the challenges, Pablo Matheus was a very active child. He crawled up and down on the couch, fed by mouth and even walked with our help.
In 2018 Pablo Matheus started to sleep all the time and he wasn't even eating properly. We took him to the emergency room as we were really worried. My insurance company agreement required us to go to a new unknown hospital, however upon getting there, they had my son's medical record and everything appeared to be well organised. We talked to the paediatrician about all the symptoms my son was experiencing and the paediatrician thought it was better to admit him to be able to do further tests to investigate what was happening. We spent one night in a regular room but the next day he was transferred to the ICU, as his condition significantly worsened. The paediatrician informed us that he could suffer respiratory arrest and that he had to be intubated. I was in so much despair to once again see my son in that situation. My son was suffering and I was unable to do anything for him.
It was a difficult time for us because it is was an unknown hospital with unknown doctors. But we met with the neurologist who was there to examine my son who did a fresh review of all his medications and some changes were made. We also had a 24 hour electroencephalogram examination and the ketogenic diet was started. With the change of medication and starting the ketogenic diet, Pablo Matheus suffered very bad constipation and went for many days without using the toilet. We talked to the doctor about the possibility of having surgery to control the seizures, including the option of a vagus nerve stimulator. Subsequently Pablo Matheus was scheduled to have the VGS implant and had the operation and the procedure went well.
We were also seen by a speech pathologist during the hospitalization. The speech pathologist requested swallow test to check whether he suffered dysphasia. This was confirmed and it was decided that Pablo Matheus should have a gastrostomy. It was really difficult for me to accept the prospect of seeing my son eat by means of a gastrostomy, but surgery went well.
Following the operation, Pablo Matheus was admitted to the ICU to remain under observation for one night, but things turned out differently. We ended up remaining in the ICU for 7 days because one side of Pablo Matheus’ lung collapsed. Luckily he was very well taken care of by everyone in the ICU and after we were transferred to a general ward, we were counting down the days to go home. Eventually the big day came and we were discharged. We went home with joy and happiness to begin our new routine.
During the time of Pablo Matheus’ hospitalization, a genetic exome test was ordered as the doctors wanted to find the root cause for his seizures. It took the hospital 1 month to get the result of the exome test. When the day came to see the neurologist to receive the results, we had the hope that my son did not have any serious genetic mutations. However, when we came to hear the results our world collapsed. If I could I had dug a hole to throw myself into, I would have. Two heterozygous variants were found the WWOX gene. The diagnosis was Early Childhood Epileptic Encephalopathy 28 (OMIM # 616211) also known as WOREE syndrome. The doctor told us that it was a degenerative disease with no cure. The best I can do is to comfort to my son. It was a difficult time in our life.
My son started to regress and didn't play anymore, didn't smile, didn't interact with anyone and was bedridden. All developmental gains were lost. In 2018 we took him out of school and I stopped working to take care of Pablo Matheus full-time. But at least I can take care of him with much love and affection, and gratitude to God for still having my son.
As the days passed. Pablo Matheus’ condition worsened and it seemed as if he lost the will to live. We once again took him to the neurologist who thought he may be suffering some sort of depression due to everything he went through during the hospitalization and with his new routine. In May 2019 we started to notice that Pablo Matheus’ breathing was really bad and we took him to be examined by the paediatrician. All the tests conducted were normal, but his oxygen saturation was really low at 87. The paediatrician asked us to arrange a consultation with another specialist to determine what was happening, but one night after we finished his feeding, Pablo Matheus became cyanotic. We immediately rushed him to the Sabará Children's Hospital where he had previously been hospitalized.
While we were being screened in the emergency room, his saturation dropped to 82 and kept dropping further. He was immediately admitted and had an x-ray which confirmed he had pneumonia. He was rushed straight to the ICU where he received oxygen to help his breathing. Many difficult moments followed and nothing seemed to improve his situation.
The doctors started various medications and performed many further tests but eventually he had to be intubated yet gain. It caused me so much pain to see my son suffer so much. At some point I thought that were going to lose him, his condition was so bad. I talked to Pablo Matheus and told him that I will understand if he wanted to rest. I said I would love him forever and I handed him over to God. The doctors considered doing a tracheostomy to ease his breathing, but I didn’t agree to proceed. I consulted the physiotherapist and asked if there were no other means to help him breathe and she said yes. I asked the doctors about the other alternatives and agreed to try.
They decided to un-intubate him to see how he will react and by the grace of God my son did really well. He was breathing in room air by himself. Nobody in the ICU could believe that he was able to breathe by himself but God restored my prince's health. So many people were praying for him. Pablo Matheus was hospitalized for a further month until he fully recovered.
My son's life totally changed, his smile returned, his is playing again and interacting with us. He continues to be fed via his gastrostomy but this has turned out to be very good for him as has gained weight and body mass. At present he is treated with Rufinamide, Topiramate, Nitrazepam, Keppra and has the vagus nerve stimulator. While we still do not have full control over his seizures, they have improved a lot with the vagus nerve surgery and especially the introduction of Rufinamide. Pablo Matheus receives home care and uses a Bipap machine when sleeping. He sees a physiotherapist from Monday through Friday and we are trying occupational therapy for his scoliosis. He also sees a paediatrician every 15 days and a nutritionist once each month.
Pablo Matheus is very fond of toys with music and loves to listen to Marília Mendonça, Patati and Patatá, Moana and the Backyardigans.
During my ongoing quest to find more information about my son's diagnosis, I found the WWOX Foundation and the WWOX Parent Support group on Facebook. I am so thankful for having met all the other parents around the world and to know that we are not alone in the fight for our children. I also believe that we will soon have some good news in regards to the research being conducted on WWOX by the WWOX Foundation’s Scientific Team.