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Rare Diagnosis

Rare Diagnosis - 3 Things I Wish I Did Differently... Genetics, Rare Disease, Rare Conditions, Syndromes, Caregiver Support. Positive Parenting Specialized.

Our Rare Diagnosis Story

Our rare diagnosis story is full of drama.  If you have a rare diagnosis, I pray yours came more peacefully, without our heart wrenching circumstances.  Life can be so full of unexpected circumstances.

Our Rare Diagnosis story began by trying to get our oldest son diagnosed properly.  He was seven years old.  Almost everyone working with him thought he might be on the Autism Spectrum.

The first “stop” if you will, in our Rare Diagnosis Story, was found when our son was having speech therapy.  “He’s may be having mini strokes or seizures,” the speech pathologist declared.  “Get him into a neurologist as quickly as possible.”

You can read this story in more detail in this post: Early Symptoms and Incomplete Diagnosis, and lastly The Puzzle Starts to Reveal a Picture.  Long story made short: the first neurologist, passed us off to another one.  The second neurologist ordered a huge panel of blood work.

More Drama for Mamma

I didn’t really consider the blood work.  The doctor stated she was checking for genetic disorders.  Everyone thought our son was autistic.  I figured his blood work would be fine.  There wasn’t a blood test for autism.

A nurse from our local children’s hospital urging me to come to the hospital first thing Monday morning.  All weekend was “Suspense-ville.”  Was it cancer, was it terminal, was it chronic… what was it?

Monday morning we were there 8:00am sharp, worried to the core.  They gave us the genetic “Rare condition.” Our son was the fourth child at this hospital to be found with the same chromosomal issue. Their prognosis was scary.  Many kids were on feeding tube, ventilators, not able to walk, and they had heart defects.  They had already scheduled us with GI, cardiology, and genetics.  We began seeing all these specialists that week.

They gave me pamphlets about facial features, heart conditions, and different foundations that they felt would be helpful for me to join.  Guess what?!?  They were all wrong about his diagnosis.  The genetic mutation was so new, they steered me the wrong way.

My son has a duplication, all the information they force-fed me was about the deletion side.  Hindsight, I am relieved for my son.  Yet, my heart grieves for the other families affected more critically (another reason why I blog)…

My Response

I cried for days because the doctor’s said they really couldn’t predict my son’s future.  There weren’t enough viable cases to know.

As we went to specialist after specialist, getting “Green,” lights that the genetic condition had not affected each body system, I began to relax a bit.  I googled the diagnosis.  I read reports.  It seemed there was a 40% greater chance of our son being on the Autism Spectrum after having this mutation.

Our doctor again had told us the opposite.  She said he probably isn’t even on the spectrum, this is all genetics.  My thoughts grew dark, dim  as I imagined my “bad” genes did this to my baby.  I began hating myself.

However, I was pregnant with our youngest.  My gynecologist refused to deliver our baby without me being tested for the genetic mutation myself.  My blood work came back clean.  He didn’t receive the mutation from me!  I felt relieved, at peace that however it happened it was going to be okay.

Hindsight, What I Would Have Done

  1.  I would have been clear headed, calm.  Upon receiving the Rare Diagnosis, I wish I would have hugged my son and reassured him everything was all good because he was in the room during most of the discussion.  I wish I would have been more advocating and insisted that his dad needed to take him for a walk.
  2. I would have gone to the specialists, one, a week at a time.  My son battled being afraid he was dying with so many EEGs, EKG’s, xrays, scans, and such.  If I were a child, I would have been worried too.  The Neurologist had the alarm that our son might fall dead at any minute, which made us be in crisis mode too.  Again, I wish I would have been calm, looking at the situation.  Our son was almost eight, if he hadn’t keeled over yet, come on!
  3. I would have joined a Yahoo Support Group much sooner.  Upon asking questions, I realized my joining the foundations for my son was frivolous.  Families in Asia, Australia, and Canada, not to mention Pittsburgh, had a much greater understanding of the differing symptoms between the duplication individuals, and those with deletion.  The Yahoo group was my grounding anchor.  They kept me sane.  I would ask about my son’s behavior.  They helped me understand what was possibly the genetic stuff, sorting out what was just kid stuff.


No matter what, find our tribes, like the yahoo support groups.  Find people who will help you through as you help others through too.

Never forget your kids are your precious babies, no matter how a condition may change their behavior, appearance, or development.  I started to lose sight of this.  Panic filled my heart, it spilled over to my son.  He sensed my fear, which means I was not holding it together well enough.  We all are human.  No one is perfect.

The number one thing I wish I would have done better was to be calm.  The doctor’s apprehension caused me much ado for nothing; which is not cool, bro!  Looking at our life, I should have known the possibility of our kiddo keeling over forever was slim to none.  However, I took it all hook, line, and sinker.  I was freaking out.

If any of my readers get or have gotten a Rare Diagnosis, please take a few deep breaths.  Realize you or your loved ones are still the same.  Become grateful for every day, every moment.

In closing, consider this: “None of us can control the cards dealt to us, but we sure can play one heck of a game.”  Make the most of whatever it is.  Celebrate the good.  Get through the bad.  Our storms can’t last forever.  The sun will shine soon, one way or another.

Thank you for stopping by today, please come back again soon.  Blessings to you and yours today and always,


The Real Ending…

PS: Click here for a list of Rare Diseases and Genetic Conditions, but please don’t dwell on them.  Preserving over this negativity, wondering if this fits or this, won’t help you have fantastic days.  Trust me, I know.  Just posting this in case someone wants to see if their Rare Gig is listed or not…

Please share any Rare Conditions your family may be experiencing if you feel comfortable in the comments below.  Share what has helped you cope, please.  This information is helpful for me, as well as others.  Hugs to us all!  Hug our babies too, they are the true Champions.




I live in Columbus, Ohio USA, grown up here all my life. I love yoga, walking, riding bike, reading, bargain shopping, serving at church. Usually though, I'm napping in a doctor's office waiting area with one or two of the Fantastic Four Children. My passion is helping other families with extra health, behavioral, and learning issues like mine. Let's enjoy life... TOGETHER. It's more fun that way =)!

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