My 11-year-old son Sebastian is an amazing boy who possesses incredible strength and makes me smile every day. He is a sweet, friendly, and caring boy, who wants to have lots of friends, play sports, and do what every other child can do. However, unlike most children, Sebastian faces the daily challenges that come with suffering from progressive ataxia and leg spasticity of an unknown cause.
Sebastian started experiencing unexplained strabismus when he was three years old, as well as stiffness in his legs and delays in his speech. Our family was referred to neurology and ophthalmology doctors at Boston Children’s Hospital and our rare disease journey began.
As a parent of a child living with a rare disease, the journey has been exhausting, overwhelming, upsetting, and scary. I cannot even imagine how Sebastian feels because he is a boy of few words, and he tends to keep a lot of his feelings to himself. Do not get me wrong, Sebastian has a tough exterior, but he has feelings and hurts like anyone would. Life is not easy in general, and we just need to take each day as it comes.
Although the journey has been tough, I still live with hope and gratitude. Hope for the day that perhaps the doctors, genetic tests, or research studies will be available to provide the answers as to the cause of Sebastian’s disease, how we can properly treat Sebastian, and so that he is not in pain and can live a happy and fulfilled life. We have so much gratitude for the staff at Boston Children’s Hospital, who have been amazing to our family throughout this journey. Sebastian has an amazing medical team, who go above and beyond for him and our family. I also have incredible gratitude for Sebastian’s siblings, Thijs (aged 13) and Stella (aged 7), who help Sebastian without being asked, by opening things for him, helping him get dressed, or simply helping him with his walking. Thijs and Stella told me once that they do not do things for Sebastian because they have to, but they do it because they want to (it was a proud mom moment for me).
Our family did not receive any diagnosis for Sebastian until October of 2020 and our diagnostic odyssey continues. Multiple blood tests, MRIs, and genetic tests have yielded little or no results. Our family is signed up to multiple research studies, but we have been warned research studies can take many years and there is little chance of yielding results. It is frustrating when you get the test results of no information. You are happy because nothing “bad” has been found, yet you are discouraged because you have no information and are no closer to finding out what needs to be done to help your child. I am a proactive person and I hate surprises, so this rare disease journey has changed me not only as a mother, but as a person. I need to be strong for my husband and all my children because we need to come together as a team. I know in my heart we can get through anything in life if we are strong and support each other. It will not be easy, but I need to believe that better days are to come.
I do not know what the future of this disease will look like because there are a lot of unknowns. Ataxia is a rare disease with many different types and no cure. The cause of Sebastian’s disease is not known. The doctors have a possible diagnosis of hereditary spastic paraplegia – type 15 of which there are less than 50 cases known worldwide. We are lucky in that one of Sebastian’s doctors is a specialist in this disease.
Sebastian’s symptoms have gotten progressively worse over the last two years. The disease impacts his vision, his speech, his ability to walk, and his gross motor skills. He has had trouble breathing and experiencing unexplained shaking. Sometimes he experiences trouble eating. He receives assistance at school and undergoes physical therapy, speech therapy, and occupational therapy.
Our family will continue to take part in every research study possible in the hope that it will assist not only Sebastian, but any other person fighting a similar disease. I share our story because a rare disease can be a lonely journey. It can be hard to find other families and children going through the same thing. I share this journey to encourage parents to keep going and to be strong. It is okay to take time to cry and be human, because we cannot always be superhuman and on autopilot. I do not like to show my emotions in front of others including my husband, but I will just lock myself away for a few minutes, have a good cry, wipe away the tears, and get on with my day. You need to take care of yourself in order to take care of others.
Rare disease is not a death sentence. I will do everything in my power to support Sebastian as well as his siblings in following their dreams. We may need to be a bit more creative, and it may take a bit longer for Sebastian to accomplish things, but the sky is the limit for my son! Anyone who meets him and gets to know him is a lucky person because he is a super strong boy with a heart of gold. He takes each day as it comes and tries his best, which is all that our family can ask for.
The National Organization for Rare Disorders (NORD) is committed to telling the stories of patients and families with rare or undiagnosed diseases and helping them live their best rare lives. If you would like to share your story, contact NORD here.
