Our Waardenburg Syndrome Connection

The first part of this post was originally written in May 2012 while we were still living in Maryland, I just found it in my private journal. Orion was 21 months old at that time. The information that reflects Orion's genes is the same with one new exception. He's unofficially not the only child with this.

May 2012

During our last visit at the National Institutes of Health I learned both copies of Orion's MITF (microphthalmia-associated transcription factor) genes are mutated.  One copy of my MITF genes is mutated, we have stumbled upon why I am Deaf.  I did go to Gallaudet's Genetics Clinic while I was a student there (the clinic is now closed).  The result then was that I didn't have the famed C-26 gene (Connexin-26) that they frequently tested for.  I was among the "20-30 percent of those who were deaf due to unknown causes". 

That's me in the middle sitting next to my little brother, Jeremy, and Forrest, a neighbor, laying on his side behind us. Photo taken probably in 1980-81.
My parents learned sign language for me.
No one knew why I was deaf... until I had Orion many years later.

We've made several trips to NIH's National Eye Institute to be evaluated, photographed, scanned, blood drawn upon the request of their bow-tied guru genetic ophthalmologist, Dr. Brian Brooks, and his team.  They zeroed in quickly on what gene to check. (Children's National Medical Center also sent out a couple blood samples to be gene-tested for other syndromes and they came back negative.) Samples of Orion and my blood were drawn on our 2nd trip and a few months later confirmed our MITF genes were affected.

During creation, each baby gets a copy from each parent to form 2 copies.  One copy of my MITF gene is deviant, excessively creative, non-comformist.  This is likely a de-novo mutation (first generation).  Orion's MITF genes went up one notch with both coming back with a mind of their own.  The whole genetic and physical makeup of Orion is a first of his kind.  The man behind the bow-tie said you can actually call it the "Orion Syndrome".  Sounds like a sci-fi flick!  However, it won't be named that way officially but we family members can call it any way we want in our house.  Tentatively and unofficially we are referring to this syndrome as Waardenburg Syndrome Type 2a+ (note the plus).

Everyone has 2 copies of the MITF gene. Everyone. 

If you have a mutated copy of the MITF gene on the short part of the 3rd chromosome, you have Waardenburg Syndrome type 2a.  That's what I have.  On NIH's website, the information is fascinating, especially when the description of the MITF gene and pigmentation issue makes sense related to Orion.(http://ghr.nlm.nih.gov/gene/MITF) This is where it gets fuzzy for me.  The way I understand this, because both copies of Orion's MITF genes are affected, it's something more and since its the first time it's documented in a human, we don't know what else that may be different for Orion. You would know what to expect during the lifetime of a person with a not-as-rare syndrome.

It's as if Orion is waving, "Hi, Mom."
A black and white MRI image slice done at Children's National (DC) showing one of Orion's hands when I was around 6 months along in my pregnancy.  Dark fingers are outstretched, amongst dark vessels and a lot of white areas.

I was truly surprised that we discovered quickly how Orion was deafblind.  As soon as we knew his eyes were seriously undeveloped in-utero more than 2 years ago, we wondered, "What happened?"

(He was diagnosed in-utero as having bilateral anophthalmia but after a visual inspection and another MRI following his birth the diagnosis was changed to bilateral microphthalmia.) I checked the labels of chemicals or paints that I thought I might have used around or before the early weeks of pregnancy.  Nothing appeared dangerous.  I'm glad the mystery is gone and it's not something stupid I did (if I did anything stupid).  It's all in the genes.  If we'd known beforehand about our genes and our odds of having a deafblind child, that probably wouldn't have stopped us anyway.  

It was fine with me that no one could figure out why I was Deaf.  The cause was .00000001 of who I am.  During our quest to find answers regarding Orion, we "accidentally" stumbled upon why I am Deaf.  "Oh, OK.  Cool.  Ohhh, that explains it.  Fascinating.  All right."

Thomas may have also been misdiagnosed all these years with branchio-oto-renal syndrome.

Orion's sister, Tasia's blood was drawn even though the genetics team suspected her copies of the MITF gene were intact.  Tasia's intensive eye exams, photographing, scanning came back normal. Thomas and Skyler will pay them a visit later this month and offer up an arm each to the lab technician.  Once Thomas wraps up with Bow-Tie, and the remaining gene test results come back the team will have the whole picture.  They are planning on putting together an article for a scientific journal.

Update in March 2016:

During summer 2012 we learned Thomas and Skyler have identical mutations on one copy their MITF genes!  I was impressed that it can actually be tested.  They could see and attribute Orion's genetic "misspellings" to each parent, one of Orion's MITF genes matched mine, and the other matched Thomas'.  Remarkable!

Tasia's MITF genes were unaffected, therefore she doesn't have Waardenburg Syndrome type 2a. She's not even a "carrier".

Orion on his platform swing,
sporting his blue long leg cast on
his right leg. August 2015.

If a couple, both having Waardenburg Syndrome Type 2a, have children, they could hit any one of three possibilities: 25% chance of a hearing child, 50% chance of a deaf child with Waardenburg Syndrome Type 2, and 25% chance of a deafblind child. That's exactly how it turned out for our family. Skyler is Deaf, Tasia is hearing and Orion is deafblind.

Before the end of June 2015, Orion was the only one of his kind.  Now he has a younger "buddy" in Clarisa Vollmar (you can find her page on Facebook, "Clarisa Vollmar", and you can read my blog post about the two at Two Of A Kind!).  I also kind of covertly set up on Facebook a page 2 years ago called, "A Mom's Musings: Orion the Kid" and started using it again. One day the two white-haired deafblind beauties will meet.

Thomas, Skyler and Tasia flew from Texas to Maryland to visit Dr. Bow-Tie in August 2015 for further testing, check-ups and a skin biopsy.  Orion could not go at that time since he was sporting a lovely blue long leg cast that would've made traveling unpleasant for him.

Orion and I finally went to NIH in October 2015 for the same testing our family members already did. Orion did amazingly well. We went to meet dear old friends and pay a visit to a legislative aide in the office of Texas Senator John Cornyn to share information about the Cogswell-Macy Act. It was a terrific trip and we've always appreciated our interaction with Dr. Bow-Tie's team (he wasn't wearing bow ties this time) and our stay at NIH's Children's Inn was a home away from home.

Our Family's Thoughts On Publishing Genetic Information

Since the beginning, Dr. Bow-Tie's team was interested in publishing an article about the genes behind Orion.  We were reluctant about that information becoming public.  As the short years went by, we realized the benefit of having this information out there was to be able to connect with someone else. Who knows if there's another family out there with a child like Orion, not realizing what he/she had? We gave NIH permission to publish their findings.  They had a few more tests they wanted to do before actually publishing, such as ruling out certain genes WS2a could be misunderstood for.  One popular assumption by just looking at Orion is that he has albinism, which he doesn't have. In the middle of all that, Clarisa was born!  She and Orion looked like they could've been siblings.  Ironically Clarisa's family is not one that is "way out there, unseen" but a family we already knew in the Deaf community!  (Note: Any questions about Clarisa's genes can be answered by her family.)

My Musings

I know in the future there will be more Orions and Clarisas, especially in the Deaf community since I believe many of us have Waardenburg Syndrome and don't realize it. Just like Thomas and I didn't know we had until our little wizard Orion was born. 

Orion and Mom do a selfie on the trampoline.
Image description:  Brown haired, sunglasses-wearing mom has white-haired Orion sitting in her lap. Orion's face is visible from the shoulders and up. The bottom third of the photo is the trampoline, center third is a wood fence, top third is the blue sky partly covered in tufts of white clouds.

Two Of A Kind!

In 2012, when our family lived in Maryland, I wrote a post on June 1, 2012 about then 22.5 month-old Orion titled, "There's No One Like Orion" and talked about "Orion Syndrome".

Now I can say there's two of a kind!

There are pictures of both Orion and Clarisa here and I will tell you who is who at the end of this post.

Beautiful baby #1
(Image description: Seen from the chest up to the head, a white haired day-old infant, eyes shut laying atop a textured blanket.)

Beautiful baby #2
(Image description: Seen from the chest up to the head, a white haired infant, eyes shut, a pink binky lays nearby.

In Wisconsin on June 30, 2015, a Deaf couple, Justin and Rachel, who we knew from our days in Maryland, gave birth to their fourth child.  Their new daughter, Clarisa Delilah Vollmar, was born with amazing white hair and her eyes were yet to be seen.  Our mutual friends were immediately busy tagging the adults of both our families on Facebook.  What are the odds of two families, each with a DeafBlind child with white hair born years apart in different geographic locations, knowing each other prior to the arrival of Clarisa?  The Vollmar family knew of Orion when he was born, too! Our older kids played together occasionally before the Vollmar Family moved to the midwest when Orion was around a year old.  Who knew the circumstances of Clarisa's birth would reconnect us?

After my first reaction of shock learning that there was another kid exactly like Orion in Clarisa, I was so happy for Clarisa and her family.  My joy was flavored with knowledge of the challenges that lay ahead of them as our family started traveling on our path with Orion almost 5 years before (Orion turned 5 on July 19th, 2015).

Photo #3: A swaddled baby burrito!
(Image description: A baby's head is covered in a fashionable pink and white hospital cap, is sticking out top of the "papoose" wrap, along with a hand peeking out.)

Separately, I showed the picture Clarisa's parents posted of her on Facebook to Orion's big siblings Skyler and Anastasia. When asked who that picture was of, both replied, "Orion."  They were so surprised and amazed, too.  Someone like Orion?!

Even to us parents, it's remarkable how similar and gorgeous our littlest ones are.

Genetics

Back in 2012 we learned from our NIH National Eye Institute visits in Bethesda, Maryland which genes had a part in Orion being deafblind.  From that, we learned how it was that the rest of us were deaf, except for our hearing daughter. I will share more in a separate post.  Clarisa's genetic story may or may not be similar, but looking at these kids and looking at both families and the fact there are Deaf siblings, the answer seems pretty simple: the same genetic dance happened for her.

Challenges and Joy

The seas of raising a DeafBlind child is not easy, our two families will have a lot in common, yes, and our children will guide us on their own journeys that may look very different, or actually parallel in experience. Every DeafBlind child, even with similar etiologies who could pass as cousins or even siblings as seen here, is different!

Photo #4: Another swaddled baby burrito!
(Image description:  baby's head, covered in a fashionable pink and white hospital cap, is sticking out top of the blanket wrap, laying content in the newborn warmer.

Talk about the discovery of the final frontier!  Gathering information* without our distance senses (sight/hearing)!  Exploring the dark depths of our oceans, mysteries of the human mind, putting ourselves in the perspective of our young children, as well as learning of strategies, information and experiences of the parents, friends, role models and professionals who "sailed the seas" before us.  We have first row seats experiencing the little, yet burning magnesium bright, accomplishments of our DeafBlind children.

*Gathering information: The best in-a-nutshell description of deaf blindness I've seen is that it's an information-gathering disability.

Identities in the photos:
#1: Orion
#2: Clarisa
#3: Clarisa
#4: Orion

Clarisa's dad, Justin, put these photos together side by side to see if friends could tell the two kids apart.

(Image description: Text on top reads, "Can you guess which is Clarisa or Orion?" Two head shots of two separate newborns wearing blue/white/pink striped hospital caps. The one on the left wrapped little fingers around an adult's thumb; the one on the right is being kissed on the forehead by a female.)

Orion is on the left, Clarisa is on the right.

There's No One Like Orion

Cool water and a Mom-shade on the last day of PIP, May 31, 2012. (Kendall School)

Orion has Orion Syndrome.  This is not an official syndrome, or at least not yet, or it'll be some other name.  There's no one like Orion, of course, and apparently no one has seen before the genetic/physical make-up like Orion's.

During my last visit (with Orion and Tasia on 5/29/12) at National Institutes of Health's National Eye Institute in Bethesda, MD, I received some fascinating information.  A couple genetic tests have come back with definitive results.  We're waiting for the rest of the family's blood to be drawn and checked to complete the genetic picture behind Orion.

Now, I am very curious, here.  Since it's said that Orion's the first of his kind, I want to be certain of that.  I'm wondering if there's a d/Deaf person out there, with amazing white hair at birth or at a young age, very poor vision and not an albino.  (Or if they've been mislabeled as albino...) If there is, has he/she been checked out for a certain gene?  I have seen such a man in a glance a long time ago but know none personally to inquire.