My heart breaks when I think about how Eliana may never see a rainbow or birds in the sky.
Let me tell you about our two-year-old daughter Eliana (or Ellie for short). We call her our “sunshine” because she brightens up every room she enters. She’s full of endless spirit and energy. She also has a visual impairment.
When she was just a baby, we noticed that Ellie wasn’t opening her eyes in certain rooms of our house. Her eyes also seemed to shift from side to side when she was trying to focus on something. We figured that these were normal behaviours for a newborn – it was just her way of learning about the world around her or perhaps she closed her eyes because she was simply sleepy.
Then one day, her grandmother was holding her and brought her into a bedroom where the blinds were closed. All of the sudden, Ellie opened her eyes wider and looked around. We started to make a link that perhaps the bright lights and sunlit rooms were affecting her eyes.
After visiting a variety of specialists and running genetic tests, we discovered that Ellie has a rare genetic disorder called Hermansky Pudlak Syndrome (HPS). This condition affects different body systems, and in particular, causes albinism which results in low vision, a nystagmus, and extreme light sensitivity.
The news of Eliana’s diagnosis left me shaken, anguished, and worried about her future. Every time I explained the situation to a family member or friend, the wound opened further.
One of my cousins has vision problems, and I remembered that she receives support from the MAB-Mackay Centre. I wondered if they could also help Ellie, and I immediately got in contact with them.
From my very first phone call to the MAB-Mackay, I knew we were in the right place. The care and time they took to learn about Ellie’s situation was unlike anything we’d experienced in the medical system. We felt heard and understood, which gave us confidence in the incredible team of therapists who started to work with Ellie. They were gentle, fun and optimistic, and gave her time to be a baby first, not just a patient.
Truthfully, I don’t know what we would’ve done if it hadn’t been for the MAB-Mackay. They made all the difference in Ellie’s life.
“In a time of darkness, the MAB-Mackay gave us light.”
– Paolo, Eliana’s father
Because she can’t see well from close or far, her therapies initially focused on building fine motor skills and hand-eye coordination. This included tasks such as reaching for small objects with precision, stacking blocks, inserting shapes into sorters, and properly holding a crayon to scribble. It was also crucial for Ellie to develop her gross motor skills, such as crawling and walking, to ensure that her visual impairment was not preventing her from hitting those important developmental milestones.
The team visited us at home, to help us adapt our environment for her safety and learning. Following their advice, we put green tape markers on our stairs to make them accessible and safer. They suggested ways to help with her light sensitivity, like installing blackout blinds, light filters for our windows, using the correct types of lightbulbs, and adjusting light fixtures to the appropriate heights. Because she loves to draw and colour, they gave her a slant board which raises her line of vision, reduces strain on her eyes, and helps with her posture since she has to bring objects very close to her eyes.
They gave us valuable techniques like calling out cues when there’s a step in front of her, by saying “big step” when she needs to put her foot out to feel the stairs, or “bump” when she’s walking along the sidewalk and there may be a hole or crack. We also learned the importance of high contrast colours. For example, when she’s eating, it’s important that we place her light- coloured foods (such as pasta, potatoes, or bread) on a colourful plate so she can easily find them. They suggested we even name the foods she was eating so she could associate the name and flavour.
Because of Ellie’s light sensitivity, her team encouraged me to overcome my fears and take Ellie to baby play groups in neighbourhood parks, suggesting I bring a pop-up tent or play in shady areas when possible. Getting Ellie’s first pair of glasses and dark-tinted sunglasses from the MAB-Mackay were game-changers, giving her better vision while making outside playtime more bearable.
Last year, as Ellie approached her first birthday, I asked her therapists for a few gift ideas that would help stimulate her vision. Within just a few days, they sent me a whole list with website links for items that would be age-appropriate and compatible with her visual impairment!
I’m very happy to say that Ellie’s confidence and love for life are amazing. She’s taught us that the only boundaries ahead of her are those that we create. I know that by giving her the right tools – like the ones given by the MAB-Mackay – we’ll continue to see a bright future for our daughter.
Our story doesn’t end here.
While Ellie’s determination makes her truly unstoppable, we face many real challenges every day. Now that she’s walking, we can’t let her out of our sight – especially when we’re in new environments – since she has trouble seeing steps or gaps in the ground. And even though she wears dark sunglasses and wide-brim hats outside, her eyes are usually closed because of her extreme sensitivity to light, which increases her risk of getting hurt.
Looking forward, we know that there will be many challenges ahead, particularly when she starts daycare and elementary school. You can’t imagine how reassuring it is for us as parents to know that the MAB-Mackay will be by our side to give Ellie all the support she needs. We are forever thankful!
Kristine, Eliana’s proud mom