At a month old, Izaiah Rizzo, started having his first seizures (focal). After being put on Keppra, a common seizure medication and those seizures subsided. Doctors began testing him for many different things to try to give us answers as to why he was having seizures. After conducting a blood panel, we received the result that he was diagnosed with a very rare genetic disorder (WWOX gene mutation) which has the main symptom of different types of seizures happening in his life. After two months of the medication, he went in for a routine EEG follow up and found that he was then having a new type of seizure: infantile spasms (a detrimental type of seizure for a baby). We began a new medication (Vigadrone/Sabril).
On January 12th, 2022 we encountered the scariest moment of our lives. My husband, Will, saw our son blue in his car seat. I tried tapping him to wake him up but nothing. As I rushed to get him out, his body was limp and lifeless. My husband quickly laid him down and began chest compressions and breathing into him. It was a total of almost 2 minutes from noticing him blue to when he breathed again on his own.
There was an ER nurse where this took place and she said he was having seizures. About a minute long, and about 5 of them.
Another parent of a child with the same condition said her daughter also began having seizures that would drop oxygen levels and cause her to become unconscious.
Ambulance came and brought us to the hospital (CHOC). We were admitted for 24 hour observation, unknowing that it would become an indefinite stay until we could solve the issue at hand.
The cause of him turning blue is still unknown. Heart tests were ran though and all came back normal. He had several episodes of low heartbeat pulse but the dr said that they were still trying to figure it out.
At that point, the biggest worry they had was that he wasn't gaining sufficient weight. He was 6 months weighed not even 12 lbs.
At that point, the feeding team began discussing a g-tube being placed to help with feeding.
A week after being admitted, Izaiah again started showing signs of yet another type of seizure (Refractory). At this point, the feeding team is now also discussing the start of a ketogenic diet to also help with the seizures.
Little did we know this would become a life that we would be oh so familiar with as time went on...
We were released from the hospital for a short amount of time, getting adjusted to a medication and feeding schedule that seemed to be working for Izaiah. His seizures were slowly getting under control and he was finally starting to gain some weight. We had an appointment to return to the hospital for a 5 day stay to begin the switch to a ketogenic diet. He would have to be monitored closely during this transition to make sure his sugars were adjusting and his body was responding positively.
The day before his admittance, he was routinely tested for Covid to which we received a positive result. He showed no signs at that point and was still scheduled to come in.
A week into the month of February things were looking up. Some medications were switched out, others removed, keto formula was slowly going into effect, his cluster seizures were less frequent and less intense than previously noted and it looked like we would be going home soon. It was day 3 of our 5 day anticipated stay at CHOC and were planning to be released the day after next...
Day 4 took a turn for the worst. He was fussy, not eating, sleeping more and by end of the day, Izaiah's oxygen dropped and we were told that he developed pneumonia. He was moved into the intensive care unit and an N-gtube was placed since he was no longer taking bottle feeds.
For the next few days we watched as his health fluctuated. He was on 20L of oxygen and still hard at work to maintain his oxygen level in the 90s. They also had to constantly removed fluids and secretions that were forming in his lungs because he had been silently aspirating his formula and we hadn't realized it.
During this entire time, we pressed deep into God to give us the strength to continue on and have hope that things would look up. We filled his crib with written scriptures of healing and faith and drowned the room with songs of worship. We didn't know what was going to happen but we knew we served a mighty God who had our best interest at heart, regardless how hard it was at that moment for us..
The next day was a traumatic day to say the least. His oxygen dropped drastically even while on 30L and an X-ray showed air trapped between his rib cage and his lungs causing pressure in his lungs and collapsing them. We were rushed out and doctors and nurses ran in to begin operating on him and placing tubes in his chest to release the air and allow him to breath again. He was also intubated and placed on a ventilator.
Izaiah was in the hospital for 3 months after many many ups and downs a slow healing. He sent home with a myriad of medications, a g-tube for feeding an a trach in place to be best prepared for any respiratory issues to come. He had a full schedule and routine that would become my life to keep him at his best health.
I tell you all this, and not even all the updates in their entirety (you can see all the updates here: https://www.mealtrain.com/trains/goz49m/) because he is just 1 of about 140 cases of this ultra rare disease known as WOREE syndrome, effecting his 16th chromosome aka WWOX.
His story is similar to that of his wwox warrior companions. With so little information out there about it due to lack of research and extensive knowledge, this page was created to help fundraise and raise awareness to this disease in hopes for a cure.
There is currently a group of chientists and doctors working together to create a form of gene therapy.
From the main fundraising page:
Story
Walk with us for WWOX patients all over the world this February!
Join us in raising awareness and funds for WWOX-related Diseases by walking at least 16 miles this month.
HOW?
We will be tracking our progress on our page with you all (friends and family). You can also join you by sharing this page, your mileage and/or creating you own fundraiser page! When sharing on social media please share the link and use hashtag #walksforwwox24 .
WHY?
Walk, share and donate for a better future for children living with WWOX diseases by helping us fund critical research initiatives. The WWOX Foundation has identified promising therapies that could improve the lives of our little warriors and their caregivers. However, we currently do not have the funds to properly test and deploy these therapies. We need your help!
WWOX is a gene that codes for a protein that plays a critical role in brain function. Mutations of this gene can lead to ultra-rare forms of childhood epilepsy known as SCAR12 and WOREE Syndrome. These diseases first show up as seizures within the first few months of life. From the first seizure, symptoms continue to grow. Children with WWOX deficiency have many difficulties including eating, breathing, digesting and countless others. The majority of children have no speech or mobility and rely on their caregivers for every facet of their life. Children with the most severe type of genetic variants will not live through their childhood.
Currently, there are no approved treatments for children with SCAR12 and WOREE Syndrome. However, there is promising research that that could dramatically improve these children’s lives. To pursue these new research initiatives the WWOX Foundation needs your help. As a volunteer-run nonprofit each dollar donated goes toward our research and advocacy programs to create a brighter future for these children. Help us kickstart our 2024 research projects by donating and sharing!
Projects we seek to fund:
$25,000 – Creation of new stem cell lines to better understand the spectrum of the disease and screen for potential treatment options
$25,000 – Fund WWOX patient registry to gather important patient data to guide our research.
$75,000 – Drug Repurposing Screening Study to determine if any existing FDA approved drugs can be repurposed to improve symptoms of patients with WWOX deficiency
$250,000 – Conduct a small (~10 patients) clinical trial to determine efficacy of a targeted re-purposed drug candidate.
