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Luka, our little light, and his twin brother were born prematurely and spent time in the NICU. Other than polyhydramnios in pregnancy and needing a bit of time to grow bigger in the NICU, Luka’s early days, while still tough since his siblings couldn’t come to meet him in the NICU in 2020/2021, did not set off any red flags in the medical world. After leaving the NICU, however, Luka’s medical journey was filled with many unknowns. As parents of three other kids, we noticed unique differences in Luka. He was at a different stage than his fraternal twin in development and had some other markers (e.g., single palmar creases, hypotonia, strabismus, & a few other physical features) that had us wondering. However, these were initially brushed aside by a family doctor and, without a lot of other regular appointments due to the pandemic, went unnoticed. He got glasses at 6-months old and had eye surgery to correct his strabismus. We eventually got the right support with physiotherapy and occupational therapy through the NICU follow up team and his delays in motor skills, speech, and other milestones led to him being diagnosed with Global Developmental Delay when he was one.

The answers for the physical and development unknowns came in spring 2022 when he was found to have a genetic deletion called FOXP1 Syndrome, a very rare neurodevelopmental disorder that can affect motor, neurological, speech, and organ development. While Luka is the only one in Saskatchewan that we know of with his specific condition, and only one of a handful in Canada, the diagnosis still brought some comfort and answers as we started to connect with a global community of just over 100 in the world with his rare condition.

The year of his diagnosis brought many positives as it felt like we had a more clear path working with the great Alvin Buckwold Child Development program team but it also brought more challenges as Luka struggled with sleep apnea, illness, and had to go to emergency a few times that year - once for a hernia (which eventually led to a successful surgery after the initial surgery was delayed due to him being too ill) and another hospital visit when he got quite sick with RSV and pneumonia. There were also a lot of tests or checks that didn’t always bring the “all clear” answers we were hoping for. Among other things specialists are keeping an eye on, his kidneys are being monitored for abnormalities and his brain MRI has led to some concerns (more on that below). As a mom, I start to tense up whenever a clinician or surgeon mentions a “1 in a million” chance as Luka had already ended up on the “1” side of those equations.

The biggest surprise, though, was when, in addition to FOXP1 Syndrome (which in his and most cases is due to a non-hereditary spontaneous genetic change), Luka received a new un-related hereditary genetic diagnosis in early 2023. After losing two teeth at age one with no explanation, it was discovered that he has a rare disease related to bone development called Hypophosphatasia. Thankfully he has a milder version of this genetic condition but it still affects his teeth and increases his risk for fractures and bone pain. Having two rare conditions diagnosed along with multiple surgeries in a year was a lot to take in.

Going through the process of questions, tests, waiting for answers and the "is now a good time to talk about the results" cycle more than once was certainly emotional as a parent. However, we're so thankful for the entourage of doctors, specialists, and therapists that support Luka as he bravely tackles new challenges. In addition to his amazing developmental pediatrician and pediatrician, he's been referred to an endocrinologist, a couple neurologists, a nephrologist, urologist, cardiologist, respirologist, ENT, specialized Pediatric dentist, eye surgeon, general surgeon and more. He has some really special professionals looking out for him.

These days, Luka (now two-years-old) has regular therapy with SLT, OT, and PT at Alvin Buckwold and goes back to the hospital quite often to see various specialists or get certain tests. For one of the first times in my memory he had a test that provided an “a-ok” result (a recent echocardiogram). His brain MRI was not so optimistic. Actually just three days after getting home from the hospital from having his adenoids tonsils removed (in hopes it will help his obstructive sleep apnea), we got a call from a neural surgeon about some MRI findings that require a second special brain MRI to investigate. That seems to be how things have gone for our family these past few years… only a few days to “breath” between new medical news or uncertainties. Speaking of breathing, Luka was also recently diagnosed with asthma and unfortunately had a little asthma attack during his last surgery so we’ve added that as another concern/special consideration for when he does have to go under anesthesia (which seems to be frequent these days).

Despite all the worry and the time spent going to appointments, we are thankful for the things Luka can do and the way his sweet smile and energy bring joy to those he meets. His motor skills are coming along as he tries to keep up to his older siblings and twin (or tries to toddle away from us at the park!). While neurological development, learning , and speech are areas that are particularly affected by his FOXP1 Syndrome, we're excited that he's learning some words and how to communicate. He loves music and seeing his little body bounce to the rhythm is one of the cutest things. We anticipate there'll be challenges and potentially other medical diagnoses and adventures in Luka's future but we're learning to take things as they come.

Luka's name means light and he certainly has taught us a lot about finding the light in any circumstance. His smile can light up a room and he really is our fearless little fox!

Reading the stories of other kids with FOXP1 syndrome or brave Little Wonders in this program has been a great source of support and inspiration. Meeting or hearing about other families’ journeys has been very humbling. While the journey we’re on is not one I would have ever imagined, I also never imagined the amazing people that would be there to walk along with us.

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