Her Daughter Tripped A Lot: The Mom Found Out It Was Due To Rare Genetic Disorder"It would have been easy to help my daughter if her disability is one of those I work on every day."by Ting V. Patriarca .
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In February 2020, my then 8-year-old daughter, Marin, was diagnosed with hereditary spastic paraplegia (HSP). She needed to undergo a couple of MRIs and a nerve and muscle test for it.
The diagnosis came as a shock — it was our first time hearing of HSP, a rare progressive genetic disease that affects the lower limbs.
Hereditary spastic paraplegia symptoms
Marin’s gross motor development was at par with her age — no delays that we could see. However, we noticed Marin had a tendency to trip more than usual.
She could not play with a jumping rope because she could not jump and get her feet off the ground simultaneously. She did not like ballet classes because she could not be on her tiptoes. And she requested to be carried whenever there was a lot of walking, so we always brought a wheelchair when we travel abroad.
These symptoms did not alarm us then. But when she began to walk unevenly, we knew something was wrong.ADVERTISEMENT - CONTINUE READING BELOW
Before her diagnosis, Marin could walk, although with an unstable gait. Fast forward to today, she can hardly walk independently, not even stand on her own! She can do so for only a couple of minutes with the use of an ankle-foot orthosis (AFO) brace.
Currently, Marin has thrice-a-week physical therapy sessions to address her nerve and muscle weaknesses. She also has a weekly counseling session to guide her emotionally in the adjustments that she is experiencing. But no matter how much we wanted interventions to be in full swing, we are constrained by the pandemic.
Then, HSP is a rare disease, so only a handful of research and support groups are available in the WORLD. None exists in the Philippines. The nearest support group I found had been in Australia. Marin still needs panel genetic testing that can only be done abroad, apparently.CONTINUE READING BELOWRecommended Videos
Creating awarenes for a rare genetic disorder
Oh, I have cried buckets for my daughter, and I have felt helpless. As a special education professional for almost two decades, I have been exposed to numerous cases of children with special needs such as those with autism, learning disability, ADHD, behavioral issues, cerebral palsy, and the like — but nothing like my daughter’s disability.
I asked God, “Why to give me something that I do not know how to handle?” But, I guess He wanted me to venture out on another path, an unchartered territory.
My daughter’s condition has made me realize my priorities, brought focus to what I need to do as a mom.
While I cannot take the pain away from her, I can advocate like I do already for kids with special needs in my job as a special education professional.
I can start the conversation going. I can bring awareness and understanding to this disability and get support for families in the same situation.
I have always trusted the plans of the Lord for me, even if sometimes it puzzles me. This Bible verse is what I hold on to ever since.
“For I know well the plans I have in mind for you, says the Lord, plans for your welfare, not for woe, plans to give you a future full of hope.” - Jeremiah 29:11
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