A Journey of Hope: Our Family's Story with SPTAN1 Mutation

Logan and Iris with big brother Jude

Hello and Welcome!

As any parent to a medically complex child can relate, when we learned about our twins' SPTAN1 mutation, and that there was no treatment, we felt hopeless, confused, broken. Over time we also felt anger, devastation, fear, grief, you name it. That first year or two was like treading water in the middle of the ocean, barely keeping our heads above water, barely surviving each day. Sometimes I think, if it weren't for my son Jude, I wouldn't have been able to pull myself together again. Because of him, I was forced to "fake it." I was determined not to let his sisters' medical needs overshadow his childhood, and that gave me a reason to keep going.

Once I was forced to live, to make an effort, I began to find connections to other families, information about treatments and scientific advancements in gene therapy, and in turn, hope. However, I also realized it was really, really difficult to do this! Getting up out of that hole and finding a path forward took a lot of time, not only because I was struggling with my own pain and mental health, but because the rare disease community is very disconnected. Everyone and everything seems to operate in a silo. My goal in creating this website is to help bring this SPTAN1 community just a little bit closer through knowledge, support, and hope.

Our Journey Begins

By the time we received the results of our daughters' whole exome sequencing, including the SPTAN1 mutation, they had already been diagnosed with cortical visual impairment, hypotonia, dysphagia, and epilepsy. Learning about SPTAN1 simply provided a reason for all these disorders. But it also provided a new level of despair; there was no treatment for this rare gene mutation. On top of that, for our daughters' particular variant, there were no known cases over the age of 8 years old. It felt like a death sentence for my beautiful, innocent angels, and I realized that I would have to one day watch not one, but two of my children die. That pain of that realization has never left, and that fear is always in the back of my head.

But how could I just let that happen? How could there not be something I could do?

That's when I began my search, diving into whatever articles I could find at the time, and then contacting the names within these publications. I found a family in Brazil with website and a fund for their son, a specialist in Germany who agreed to meet with my husband and I via Zoom, and a researcher in Australia working on an actual therapy for this mutation. I found a Facebook group of families impacted, and finally, we found a team of research scientists in Texas willing to do the work and attempt to create an antisense oligonucleotide (ASO) gene therapy for Logan and Iris.

I have never been more grateful in my life; never felt such relief or hope. And although it is a long journey, at least it is something.

Building a Support Network

I have always been a fairly optimistic and positive person. I've always considered myself resilient. However, my mental health was put to the test these past few years. When my husband and I decided to start a family, we conceived our son very easily. It was a fairly easy pregnancy, and he was an angel of a baby. But when we decided to try again...it was a completely different experience. Not only did I suffer two complicated miscarriages, but we then learned I had a blood clotting disorder that would require blood thinners in my future pregnancies. However, we moved forward, and much to our surprise...TWINS! Unfortunately, this pregnancy was not so easy, and it ended with 76 days straight on hospitalized bed rest. After that nightmare, and once the girls were here, I thought the worst was over. But for my daughters, it was just beginning of a series of challenges.

Again, I have always been positive, and I truly thought I would bounce back once this pregnancy was over. Unfortunately, I never got the opportunity to do so, as we went straight into caring for medically complex twins. I started to realize how much I wasn't "myself" and how "disconnected" I felt. I began to lose hope, I was irritable with friends, and I had no interests. I was forced to leave my career to care for my twins, and my life was completely unrecognizable, as well as wrought with worry and fear.

I realized I had to get help. I began cognitive behavioral therapy and eventually anti-depressants after being diagnosed with post traumatic stress disorder from my hospitalization and situational depression. Happy little me has PTSD and depression! I couldn't reconcile that with who I thought I was, but the signs were all there; I just didn't see them.

I have a point in sharing this, I swear. The point is...I am not alone. There are other parents going through the same rollercoaster of emotions, the same shock, anxiety, grief, depression, and there is comfort in finding each other. Finding friends in the SPTAN1 community has been so uplifting, and so I hope this website can also help foster connections among affected families.

Spreading Awareness and Advocacy

The rare disease community is small, and there is a need for ongoing awareness about SPTAN1 mutations. If it weren't for the interest of a team of researchers in Texas after I had contacted sooo many people, we might not be on this path towards effective treatment, and if it weren't for the advocacy of parents in general, these treatments might never be created. It is so important to get involved, get your friends and family involved, and spread the word to help others. Not only are most of these treatments funded by small foundations and private donations, but they are propelled by advocates; parents and loved ones of those living with a gene mutation.

Looking Ahead

I plan to share our journey towards treatment as we go, and I invite others to contribute. I would love to hear about other families' experiences and hopes for advancements in treatment options and research. I am optimistic and finding joy in my daughters as they are, but I am still hopeful for an improved quality of life in the future. I encourage anyone reading this to join the community and embark on this journey with us.

That said, please share any suggestions or feedback about this website and what we share, as it is a reflection of this amazing and resilient community to which we belong.