Living With a Rare Disease

Rare Disease Day is a globally recognized day that highlights those that live with rare diseases.  The goal of the day is to work towards equity in social opportunity, healthcare, and access diagnosis and treatment.  While most of us think that having a rare disease is in fact rare, there are many people in our own community who live every day with a rare disease.

Hearts for Healthcare wanted to shine some light on one local family living with the realities of a rare disease.  We want to introduce you to the amazing Ava and her family – The Thiessen’s.  Here is their story:

February 28 is Rare Disease Day, and I, Jolene, am Mom to the sweetest four year old, Ava,  who  is one of approximately 50 documented cases world wide of people with a SPTAN1 gene mutation.

The pregnancy with Ava, was normal and uneventful, but that’s where the “normal” part of Ava’s story ends. At birth she had low APGAR scores, she didn’t cry, and she hardly moved- they gave her to me, and assured me that she was, in fact, alive and well. At home we noticed some difficulties. She made so much noise when she was breathing, and eating- she made this high pitch squeak almost all the time (which was diagnosed as silent reflux). Besides breathing, she hardly made a sound. And her eyes, they shook- side to side really fast, or rolled up in her head. “Something” wasn’t right.

It wasn’t until her well child check up a couple weeks after her birth that my concerns about things being different were validated. Dr. Stander, from the Lakeland Medical Clinic, took one look at her and had her booked in to see a pediatrician via Tele-health that day. The doctor didn’t notice anything as “off” in the video call but asked to see us in person a few days later.

We then traveled to Edmonton where a pediatrician saw her, and from there it was a whirl wind of appointments and tests. She had basic genetic testing done, a MRI, an EEG, and a saw an ophthalmologist. Most tests came back normal, including the genetic testing, but we were told at that point in her life (I think she may have been a month and a half old) she was visually impaired.

As days and weeks went on, more disciplines were added to Ava’s team. She received Early Intervention programming through the Health Unit, Physio and Occupational therapy through the hospital. We had big hopes for her to catch up, but that just didn’t happen. By eight months, Ava was still very much a newborn- and almost the size of one. She weighed 11 pounds at that point. She couldn’t eat solids, would choke if a bottle was offered and even struggled with holding her head up, even her trying to move her own limbs was a struggle. Because she was so small, and was having trouble eating we met with her pediatrician and had her admitted to the Stollery Children’s Hospital for failure to thrive.

At the Stollery Ava was given a feeding tube and finally started to gain weight. During her week long stay she was also visited by the genetics team, who arranged for Ava to get a Whole Exome Sequencing test done. It was from this test, and about eight months later (she was 14 months at the time) we learned the name of her condition- a SPTAN1 gene mutation.

Although her condition has a name, there isn’t much research that has been done on the disease, and each case seems to present differently. Our Ava is one of the more severe cases. At four, she struggles with head control, is extremely floppy (hypotonic), has severe global delay, only takes nourishment through a feeding tube. She has seizures, cortical visual impairment and is nonverbal. She needs 24-hour care and is rarely out of arms reach of someone at any given time. She is very much a forever baby.

Without much research on the disorder, no one can give us any information on it. We don’t know what the future holds, so we are doing our best to make her time with us feel comfortable, happy, and loved.

One thing I have learned over the past four years, is we are probably not going to be able to “fix” her or to “save” her. This is Ava. She is how she is. What we can do is love her and provide the care she needs. The journey through the rare world has been exhausting, challenging, and lonely. Yet it has been extremely rewarding. I have learned and continue to learn so much from Ava every single day. And we are so thankful for the community we live in and the love and support that is shown to our girl and family every single day.

If you want to learn more about Rare Disease Day visit