I met little Adriana on Instagram a couple months ago. Like Jaxson she has a rare genetic disorder–so rare that there are currently only 28 individuals diagnosed with DHX30. She is one fierce little girl and it is amazing to watch her progress. Her Mama is also a fierce one, she is a full-time caregiver to Adriana and her 91-year-old great grandmother. She is such an inspiration!
What is DHX30?
Due to how rare DHX30 is there isn’t a lot of information to go on. However based on the 28 individual’s symptoms they do have a little information:
- Feeding difficulties
- Facial dysmorphism
- Ataxia gait
- Developmental delays
Adriana was diagnosed with a gene mutation on the DHX30 gene September 25th, 2018. Pregnancy was uneventful, and perfectly normal. We all tease Nikki, my sister and Adriana’s mom, that labor was so easy, she sneezed her out! On March 14th, 2016, Nikki welcomed her first little baby girl into the world! She is the first grandchild to our Mom, and is spoiled rotten! She is my 5th niece, but I always knew she would need a little extra love.
Adriana began to miss milestones
We started to notice at about 3 months that she was missing milestones, and her pediatrician quickly intervene and got us connected with the child development center. We have had a child development worker since Adriana was about 5 months old. She has walked us through every step of the way, and has brought other specializes onto our team!
They needed a special approval from the government
We were quickly going to too many appointment to count, to figure out why Adriana was missing her milestones. We started to see a physiotherapist, occupational therapist, feeding team, neurologist then eventually adding in a speech therapist. We also started regular visits to BC Children’s Hospital in Vancouver for test after test. We did a EEG, MRI and lots of blood work. Everything came back normal! Eventually they had narrowed it down to something genetic. At that point we did the simple genetic test that was offered in Canada… nothing!! We then had to wait for special approval from the Canadian government to do a more in depth genetic testing.
We got approved!
We got approved, went down to BC Children’s Hospital, submitted our blood work and waited. After many months, we finally got the call that they had the results! We booked our appointment, and for about the 30th time, made the trek to Vancouver and sat with Dr Horvath. She read the report, told us Adriana had a gene mutation in the DHX30 gene, and informed us that they would answer as many questions as they could, but there wasn’t much to be known. She gave us a copy of the report and sent us on our way. That is when the googling began. I read that report a dozen times, googled every other word to try to figure out what it meant. What this meant for Adriana and our family. I google DHX30, and gene mutations. I googled whatever I could to get more answers. All that came up was medical report after medical report with big long words that I couldn’t even begin to understand.
How Social Media helped
I eventually found a Facebook group of the other families worldwide, which has been amazing! They are incredible to lean on for answers, since none of our doctors had ever heard of DHX30. After lots of research, we discovered that there are 28 people worldwide, and so far Adriana is the only one in Canada that we know of. She is non-verbal and uses a walker to walk as she is hypotonia, she has intellectual disabilities. She had a point where she had difficultly feeding, but we are lucky that has improved. She also has a very high pain tolerance, and will often pull out her hair. We are very excited as we have the opportunity to meet the doctor who discovered this gene mutation, Dr. Lessel, as well as other family in September.
Hope for the future
We are working on bringing as many families as possible together to meet in person, as they have really become some of our best friends. We are very hopeful for Adriana’s future, and no matter what she is loved endlessly. She is a very happy little girl who loves to read, and play with lights. She points out every tree we pass, and always signs ‘tree‘ to let us know! She has changed so many lives for the better, and we will help her through her journey of life, and hopefully help others along the way as well. Thank you so much for the opportunity to share our experience and journey with others, as we work to spread awareness!
You can find this amazing little girl:
For more information about DHX30:
Some may ask why I decided to use my blog to share stories–I am going to let you know why… As a mother of a Rare Disease little boy I know how important it is to raise awareness and to amplify their voices. We are their advocates and their teachers, if we don’t do it who will?
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