A rare parenting journey with our precious rare gem.
The birth of your second child is such an amazing time. You feel so excited and ready, because… hey we’ve done this before and know what we’re in for right?! That’s definitely how my husband and I were feeling as we awaited the impending arrival of our baby boy. We already had our 2-and-a-half-year-old daughter Alexandra and she brought so much joy to our lives that we couldn’t wait to do it all over again but this time with a son. Finally, our boy Mason had arrived and we were so in love and in newborn bliss with our boy. However, that feeling was short-lived, quickly things began to unravel. Mason was not meeting any physical milestones and at almost five months old still had no head control. We went to our pediatrician and she shared our concerns and ordered some tests. His blood work came back a little unusual and we were bought into the Queensland Children’s Hospital for follow-up tests. It was here that we learned that Mason has a very rare disorder called Allan-Herndon Dudley Syndrome also known as Mct8 Deficiency. Mct8 Deficiency is an X chromosome-linked disorder affecting mostly males. This condition affects the thyroid transporter's ability to transport thyroid hormones to the brain. A lack of these vital hormones results in physical and cognitive delays as well as other health complications. My husband and I were in complete shock and disbelief that this was happening. Our son had not been born healthy. The one thing every parent wants for their child was out of reach for us this time round. It was completely heartbreaking as we came to terms with the realization that our precious baby boy had a very serious disability. From here we were thrown into the daunting but amazing world of special needs parenting. An amazing community with such strong and inspiring parents and children. A community we are now so grateful to be a part of. Mason is about to turn three later this month. He has and continues to endure more than any almost three years should. He encounters many challenges, particularly physically as he has quite severe hypotonia and still struggles with head control. He is currently nonspeaking but he has his own way of communicating with us and is beginning to have some consistent words such as no and more. We were and sometimes still are heartbroken that Mason will never be able to achieve things his neurotypical peers will, but we are beginning to learn that Mason has his own timeline and unique way of living his life and this is something to be celebrated. Mason has taught us so much about what’s important in life and continues to teach us more and more every day. We don’t know what the future looks like for him but we know that his smile will continue to inspire people and melt their hearts along the way. Our family is committed to raising awareness for Mct8 deficiency, rare diseases, and disabilities. We hope that by continuing to share our story we can help to create a more educated, inclusive, and accessible world for our son and others living with a rare disease or disability. October 8 is World Mct8/AHDS day. A day for us to raise awareness for all the boys and families living with this disease in the hopes to improve the quality of life for our boys and one day hopefully find a cure. To learn more you can visit the mct8 foundations' website at the link .
