Colton was born on the 7th June 2021 at 35 weeks after a complicated pregnancy. This included diagnosis of absent ductus venosus at 20 weeks gestation, followed by maternal bedrest, and 3x/week ultrasounds, BPPs and NSTs, partial placental abruption and ultimately too low of fluid triggering emergency c-section.

 

Colton spent 30 days in NICU with respiratory and feeding distress. After NICU discharge things at home were going well until at around 9-12 weeks old he began having difficulty eating. Colton ultimately had spent 157 days in the hospital during his first year of life.

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Colton became very ill with Respiratory Syncytial Virus (RSV) in October 2021 (when he was 4 months old), where he spent a week in the ICU due to complications. Two days after our return home we noticed Colton starting to do these “twitches”. We immediately brought him back to hospital where he was hooked up to an electroencephalogram (EEG). After a 24 hour scan the neurologist told us that it was likely just developmental “hiccups”. We were sent home with a suggested follow up the following month.

 

Colton's twitches increased from 3-5 times a day to over a hundred. In our follow up with a neurologist they told us that he would grow out of the twitches and likely something bigger is the issue. We were disappointed in the response because it just didn’t seem right, especially as our other children never presented that way. These twitches continued to progress until our worst day. At the end of November 2021 our whole family had Covid, including Colton. Surprisingly though, Colton had the least amount of symptoms.

 

As my husband Paul and I took turns taking naps and watching the kids, Colton began to have his twitches, but this time they became very violent then Colton went limp and blue in Paul’s arms. It took an ambulance over 30 minutes to get to our home. Once Colton was hooked up to oxygen his colour slowly returned. Once hooked up to another EEG we got our devastating diagnosis. Not only was Colton having a seizure, his EEG was significantly worse than it was just a month and a half prior. The same doctor who told us not to worry came to tell us that he has infantile spasms and to prepare for a difficult life ahead.

 

We went months trying to figure out the right medications, all while Colton fought illness after illness. Colton's status seizures always came in conjunction with a respiratory illness. After getting the rhinovirus (common cold) that sent him to month-long hospital stays and several intubations. We demanded for more tests to be done to better understand what was going on. 

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Colton was diagnosed with CRELD1 in February 2022. Colton's diagnoses have accumulated over the last year and include infantile spasms/ epilepsy, status epileptics, adrenal insufficiency, failure to thrive, low tone, global developmental delay, moderate to severe bilateral neural hearing loss, G-J placement and eats through J port, submucosal cleft palate, immature eye development, and acute respiratory distress/failure.

 

Colton had a port-a-catheter placed at 12 months due to difficult IV placements. He has been admitted to PICU several times and has had three emergency intubations for both seizure and pulmonary causes and several respiratory illnesses over his first year of life.

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Due to Colton picking up so many illnesses, he had an immunology panel test done to better understand the level of his immune function. Colton’s IGG and IGB numbers were found to be extremely low - basically his body doesn’t remember when he’s had an illness and so he can’t build immunity because he can’t keep those good cells around. Colton was started on Intravenous Immunoglobulin (IVIg) infusions once a month to help boost his immune system. It's very early days, but Colton has had a positive response to the infusions, in terms of more energy and alertness. We are hoping to see more positive results for Colton with his IGG levels as the infusions continue. 

 

Despite this list of difficulties, Colton is the strongest, most resilient boy we’ve ever met. He smiles and coos, loves to hold our hands and be snuggled. He is adored by his three older siblings. There is no greater love or commitment to creating a pleasurable and positive atmosphere by our family. He - along with the other CRELD1 Warriors - bring absolute joy to our lives. This has been an incredibly difficult year and we couldn’t have done it without the support of our other parents.