The Strength of a Mother to a Child With an Undiagnosed Rare Condition


Imagine countless trips to the doctors and hospitals just to be told there were no answers as to why the symptoms were occurring and sent home with a handful of referrals being passed between medical professionals like an envelope with no return address. Then imagine, this is your child and all the specialists you have been referred to have no answers. You have hit a roadblock, but as mothers we know when something’s wrong, and we will persist until we have an answer.

Finally you were given an answer; you were told this was a rare genetic condition but no one knew how to diagnosis it. All the symptoms were not related to this genetic condition, and furthermore there is no established “clinical term” for it. What would you do? Where would you go next?

I am a mother. I am not perfect. I have shouted. I have lost my temper and occasionally I need time-out.

I am me. I laugh at things I probably should not. I have felt loss, I have felt pain, I have climbed mountains and tripped over life time and time again.

I have lived through a divorce and have learned to love again.

I have been woken up, I have been pushed down and pushed up, I have thrown up, I have lived up and shut up — but I have never ever given up.

I will not let the unknown scare me. I will continue to climb and soar through life’s challenges. I am a fighter, a fierce worrier. I am me.

I have four children all uniquely special — a 4-year-old son, 5-year-old daughter, 6-year-old son and 7-year-old son.

My 6-year-old has a rare genetic condition 2p16.3 microdeletion — deletions at 2p16.3 involving exons of NRXN1 are associated with autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features.

My son has minor scoliosis, spinal bifida (the MRI could not pick up spinal bifida at the S1; this can only be seen on an x-ray), generalized weakness, hypertonia/hypermobility (upper and lower limbs), reduced muscle mass, back pain, speech sound disorder, swallowing difficulties, motor coordination problems/dyspraxia, fatigue, poor weight gain, mild gait, posture/balance problems, skin tags at the base of his spine, difficulties with core stability, ADHD and seizures.

Whether he has outgrown some of the above or it’s showing in a different way or being misdiagnosed is unknown. Through these challenges in life and the times when I felt lost and had no idea how to keep moving forward, I did… we did… we are and still are. We gain the power to have an unstoppable mindset.

The first time I held him, I felt a feeling deep inside something was off. I called for the doctor, who checked his breathing but affirmed he was fine. He said to brush off my worries. A mother’s instinct burst out and showed its true force in the form a fighter with extreme superhero strength, voice and abilities.

Ten minutes later I demanded an x-ray, to which I was advised against. However its results showed my son had a hole in his lung, which required him to be in a special care unit for five days until he recovered.

From this point in time, between endless medical visits, facing a broken marriage, studying, working, becoming a single mum, going through family court, finding love, new marriage and every other struggle in this journey called life, my story has become richer and fuller.

We all go face struggles, but we all get to choose how we respond. You are a living testament, standing proof of the human potential. Never underestimate the power of a mother’s love.

We want to hear your story. Become a Mighty contributor here.

Thinkstock photo by Koldunov


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