Editor's Story, Health, Motherhood
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Why My Kids Are Getting Genetic Testing

INTRO NOTE:

A part of Balanced Life Aloha is this, the Editor’s Story.  It serves various purposes.

For one, it is basically a version of a journal for me (a weird, public type that also shares stories from my past).  Then, it’s to hopefully connect with others who may relate to my struggles, triumphs, and overall life experiences.  But the most unique reason for the story sharing, is for my babies.

I’m not sure if this train of thought would be considered morbid or not, but I have thought about how having my experiences and lessons, both failures and successes, recorded in this form, sort of assures me that if, God forbid, anything were to ever happen to me, these tidbits of knowledge and love would still be here for them to cherish someday.

I do have personal journals that I handwrite directly to each of them in. But with my ability to share such raw and impactful information PUBLICLY with the world on this channel, I’d like to think that THAT act alone, could offer them a sense of both confidence and humility — virtues that I so eagerly hope will be instilled within them as they become their own and explore the unique gifts that they both have to offer this world.

ANOTHER CHRONIC HEALTH DIAGNOSIS:

Two weeks ago, my daughter and I were diagnosed with a rare genetic condition.

Now although I initially would have liked to have been able to get some more research done in terms of this health condition before I shared, I figured that since this is a facet that is obviously not disappearing anytime soon (hello, DNA), I’m confident that those of you who are genuinely interested in learning more, will be able to from future posts here.

So, I’ll try (…try…) to keep the backstory brief.

What led us to this diagnosis, was my daughter’s complaints of leg pain starting back about a 15 months ago.

 

Yes, when she was just a year and a half old, she began to complain about her knees and legs hurting her.  These episodes happened in the middle of the night mostly, but also at random times throughout her days.

The first few times that it occurred, we thought it had been a certain pair of shoes that were hurting her feet.  But after we invested in the highest quality of supportive shoes, the pain continued.  Subsequently, the first few times that we had mentioned this to her pediatricians, they shrugged it off as no big deal.  At her 2-year-old physical I had discussed it in further depth, but still, there were no real answers.

It wasn’t until recently that we were taken more seriously; at her 3-year-old physical, I DEMANDED that our concerns be addressed further. See, the reason why it wasn’t ever alarming to her medical team from the onset, was because she had been a super healthy child all-around in other aspects.  There were absolutely no other symptoms that would otherwise warrant diagnostics such as x-rays or even further than that. Then, there was also the fact that her mother, ME!, suffered from leg pains throughout my life also, and still do even to this day.

The most recently seen doctors all agreed that she was too young to be experiencing “growing pains”, and also too young to be diagnosed with a more common childhood condition called, Patellofemoral syndrome (this is what I was diagnosed with as a teenager). So it was finally time to dig a little deeper.  She had some blood work done to rule out childhood arthritis amongst a few other things, each coming back with normal results. From there, we were referred to a geneticist to dive even deeper in our search for potential answers.

Our initial assessment with that geneticist was life-altering to say the least.  Surprisingly, he immediately started to assess ME! instead of Bella first. (I actually don’t know why I was surprised by this, GENETICS.. hellooo).

Anyways, he put me through a few physical tests and consequently diagnosed me with Ehlers-Danlos syndrome, the Hypermobility type.

There is a screening technique used to quantify joint laxity and hypermobility. It runs on a 9-point system and the higher your personal score, the higher the laxity. I performed certain movements, like bending over and laying my palms/hands completely flat on the floor without my knees bent, as well as bending my thumb down flat along the inside of my wrist. My score was 9/9. The Geneticist actually said, and I quote, “Yours is REALLY bad.”

He used this, amongst other diagnostic criteria, to render the diagnosis of Ehlers-Danlos syndrome to not just me, but Bella as well. Though at first, it really didn’t move me. It was like being told something (that I was very “flexible”) in which I had already known and been told my entire life. HOWEVER, then came the fact that I was actually misdiagnosed as a teen (with the Patellofemoral syndrome), that my joint pains were actually directly related to this chronic condition, and if I didn’t start addressing it now then I would almost certainly wind up with painful arthritis in years to come.

Even in hearing that, I wasn’t knocked off my chair. I mean, its pretty common to hear about people with arthritis as they age, am I right?

But then the geneticist explained that Ehlers–Danlos syndrome is a GROUP of genetic connective tissue disorders. It carries symptoms varying from mild to moderate, then to severe.  Severe being, life-threatening complications such as aortic dissection!!

HEARING THAT MADE MY STOMACH TURN. This could become really scary now.

So there are somewhere around 9 “degrees” of this syndrome, ranging from complications such as:

  • joint hypermobility
  • skin hyperextensibility
  • bruising easily
  • joint dislocations
  • scoliosis
  • joint instability (leading to sprains and injuries)

…then there is the most worrisome type,

The vascular type. And according to Dr. Shiel (a rheumatologist),

“In this form of Ehlers-Danlos syndrome, spontaneous rupture of arteries and bowel is a serious manifestation that can lead to death. Clubfoot can be present at birth. Skin laxity is of varying degrees. Veins can be very visible through the skin. It is primarily inherited as an autosomal dominant (directly passed on from one parent to child) genetic trait, but recessive (not seen in family members or only in one generation of members of the same family, meaning that an individual must inherit two copies of the mutation, one from each parent) trait inheritance has been described.”

Now everyone was wide-eyed, heart-racing worried.

Although neither of us had most of these described symptoms, there were a few things that raised some red flags. See, I have a history of cardiac “episodes”, such as PVCs, PACs, Tricuspid Aortic Valve Regurgitation, and a few others. And because of this, amongst a few other worrisome details, the geneticist ordered a full DNA panel for this genetic mutation (vascular type) and other diagnostic testing for both Bella and I.

These tests were then sent out to special labs, but we were told that the results take about two months to return.

Leaving the hospital that afternoon, my husband and I were both walking over clouds of dismay.  We didn’t know what to feel. Though we agreed that on the positive side of things, we were very fortunate to have access to healthcare that can employ such tests to comb our DNA and seek further answers.

But on the sadder side of things, there were almost an endless amount of worries flooding our minds as parents. We were inevitably playing back the conversations we had just had and trying to sort through all of the vital information.

We were told that Bella should not participate in sports (other than non-impact activities such as swimming). We were then scheduled for her to have a complete ultrasound of her heart anatomy, and told that she could potentially have to be a regular cardiology patient – for the rest of her life. It was stated that if Bella and I indeed had the vascular type, then that meant that my husband ALSO carried this genetic mutation, consequently meaning that our SON would then have to be tested as well and possibly face the same fate.

There was also talk about our relatives – siblings, nieces and nephews. How they could also be carriers. IT  WAS ALL MIND-BOGGLING.

I remember catching myself thinking, “Would it have been better to just NOT have known that we had this condition?”

It’s like I felt guilty of my continual push for answers to my daughters pain.

But after praying, the realization set in that there is no time to feel guilty. As parents, we have no other option but to be strong for our babies. And all in all, God has a beautiful plan. Heck, I’ve since read that ABRAHAM LINCOLN had Ehlers-Dalos syndrome! And c’mon, he still achieved some quite epic successes in his lifetime (Hello… Emancipation Proclamation??!!?)

So my back and forth attitude towards the entire ordeal, ultimately has just further fueled my fire burning for wellness advocacy.

I will find out more. I will research, plan, adopt, and adapt. I will persevere and so will my family.

 

So stay-tuned, as I will be updating ya’ll with more of the journey ahead…

BALANCEDLIFEALOHA.com

As Always,

x. Heather

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3 Comments

  1. Hi Heather! This is Kirstin the owner of Nature Bound. I too have EDS hypermobile type and it has been life altering! All the doctors appointments and medical information over consume you and sometimes it gets to be too much! My heart aches for you and your daughter, but now you know the reason and can provide better care for yourself. The pain is not all in your head… it’s all so real 💙 Please email me if you would like to talk further, I am an open book! xoxo

    Like

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