2026-
Masen was born on May 25, 2013 in Surrey, British Columbia, Canada, a city just outside of Vancouver. Back in 2021 after diagnosis when we first shared our story with HCU Network America, from what we understood, Classical Homocystinuria (“HCU”) was not a part of the newborn screening panel at the time of Masen’s birth, however, that information was incorrect, and Masen was in fact among the approximately 50% of missed at birth scenarios. He was tested, but it came back as a false negative. Under the assumption Masen was perfectly healthy, we went home with our happy, and we believed healthy, newborn baby boy.
As a bit of background, it was just before kindergarten when we went for a routine eye exam and learned that Masen needed glasses. This wasn’t a big concern, and Masen rocked his new glasses. It was 2 years later during a further routine eye exam that our eye doctor became concerned and thus began months of further testing, blood draws and living in fear, until we finally got Masen’s diagnosis of Classical HCU at age 8.
Our world turned upside down as we learned of the health risks and of the tools in which to manage this new path. Masen learned the importance of his low protein diet, his formula intake, and essentially a whole new world for an 8-year-old little boy. Regular blood draws and the new diet and formula was not an easy transition, and we did our best to explain to him in an age-appropriate way as to why we had to make these changes.
Masen underwent two separate and painful eye surgeries to remove the lenses from his eyes due to being at a high risk of lens dislocation. This happened in 2022, and Masen has done very well with his contact lenses ever since.
Today, Masen is a healthy, active, funny 12-year-old. He is an avid hockey player, works hard in school and keeps us laughing every day. He loves his family, sports (watching and playing) and travelling. We have been on multiple vacations, including cruises and Disney, since diagnosis. If you asked him his favorite subject in school, he would say “recess and gym”.
It is extremely rewarding to look back over the last 4 years since diagnosis and see what we were able to accomplish by travelling and showing Masen he can still do so much while he navigates the diet and the difficulties that can come along with living with HCU. Having him continue in sports and social events while keeping his diet on track has been equally rewarding. Now that he’s older he very much helps keep track of his protein and by mid-day you we will usually hear him double check by saying “what am I at for the day?” so that he can plan his dessert and snacks accordingly for the remainder of the day. This routine has provided stability as he has fallen into a healthy pattern of what to eat and when. He knows he can manipulate his day by adding more medical foods if he wants to indulge in something a bit higher in protein that evening. He is learning to plan, and this is an extremely important part of the diet. We are very proud of him, and this is the exact scenario that we hoped we would reach back at diagnosis.
Further, what has come with time and age, is being more open with Masen about the risks of HCU. We do not wish to cause our son unnecessary fear and anxiety, but the reality is he must be aware and on the look out for more serious health concerns, such as blood clots. Having this conversation with our 12-year-old wasn’t easy, but it was necessary, and we believe it further drove home the importance of diet and formula more so than what he already understood. We feared this conversation back at diagnosis, but it went much better than we ever could have anticipated.
Masen prefers to drink his formula at home and remains very much under the radar at school and in sports and many social situations. We respect his choice not to discuss and share his HCU with those he doesn’t wish to. While our family and friends are extremely supportive, we
Mason is okay with that for now, Masen wants to go about his life and not draw any extra attention to himself day to day.
Having said that, Masen loves going to conferences and openly drinks his formula in front of everyone in those situations. The power of community and being a part of HCU Network America is more valuable to us than we could ever put into words. We are grateful to everyone here and would love to see everyone at the upcoming conference in July. We cannot wait to attend!
understand as his parents that while we like to share, educate and advocate, and
Masen from Canada
Masen was born in May of 2013 in a city just outside of Vancouver, British Columbia, Canada. At that time, Homocystinuria (“HCU”) was not a part of the newborn screening tests, but would be added approximately one year later. After getting a good report from newborn screening, we went home with our happy (and we believed healthy) newborn baby boy.
Masen was the sweetest baby and brought us so much joy and happiness. He ate well, slept well and was such an easy going and happy little guy. We never had any serious worries about his health or well-being.
Around toddler age, when Masen would catch a cold (which was really only once or twice a year), we would end up in the emergency room as he would often have trouble breathing. Over the years this occurred less and less, and in the past 2 years it has not been an issue. We keep an inhaler on hand in case he catches a cold, and we use it as needed. This can be common among many children, so this was never a red flag.
Just before kindergarten, we went for a routine eye exam and learned that Masen needed glasses. This wasn’t a big concern either, as again, it’s quite common and it also runs in our family. Masen rocked his new glasses, and somehow looked even more adorable than we already thought him to be! Masen thrived in kindergarten, making new friends and learning new things. However, within these first few years of school it became apparent that he was struggling with learning to read and write. It takes a little extra help and some hard work but Masen always catches up to where he needs to be when he puts his mind to it. He is a very hardworking kid.
During this past year, Masen’s vision prescription started to become worse and more difficult to keep up with. After a few eye doctor appointments, months of living in fear with many unknowns, and lots of medical tests, a very astute eye doctor made the decision to have our pediatrician send Masen for blood work. This is where our HCU journey began; we just didn’t know it quite yet.
Masen was officially diagnosed with HCU on June 25, 2021, at just over 8 years old. Our world was turned upside down as we learned of the health risks and of the tools with which to manage this new path. We continue to work hard daily to overcome the challenges that this diagnosis has brought us. Masen has always been a fantastic eater, and now most of his favorite foods will be items he will likely never eat again. While it has been extremely difficult to take away his favorite foods, Masen happily tries the new low protein foods that we are introducing to him, and we celebrate together when he enjoys something new. He has to endure bi-weekly blood draws in order for us to help keep him healthy. He drinks his formula daily without complaint and has memorized what supplements he has to take throughout the day and when. As his parents, we could not possibly be more proud of him.
Masen is an active, energetic, friendly and resilient little boy, who loves to play sports, watch Pokémon and make everyone laugh. His quick wit and sarcasm are brilliant. He is extraordinary in every way and braver than anyone I know.
While I said that Masen is resilient, we hate that he has to be, and we long for a day where his daily life will not have to be managed with such a strict diet and supplementation in order to stay healthy. Until then we will continue to celebrate our victories and take this new path that we are on one day at a time.
December 2021
