Tuesday, March 22, 2016

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.

Monday, March 21, 2016

An Orion Favorite: The HOPSA dress

I enjoyed attending Active Learning workshops here in Austin so much I went twice and I would go again. There's always something I overlooked or a new perspective on play for kids with additional needs that I realize. All our kids' job from birth to 5 years old is to PLAY! In Orion's case, we'll encourage him to keep on playing no matter what. We can see he tries new things physically and he enjoys it immensely. His glee is contagious!
“When I was 5 years old, my mother always told me that happiness was the key to life. When I went to school, they asked me what I wanted to be when I grew up. I wrote down ‘happy’. They told me I didn’t understand the assignment, and I told them they didn’t understand life.” -John Lennon

Here's a 5-minute snippet of the hours and hours over days that Orion spends playing in the HOPSA dress.

Disclaimer: It is very important to note, you really shouldn't let your kid play in equipment without the security harnesses it provides.  Don't try this at home, folks!

Thursday, March 10, 2016

The Cogswell-Macy Act: If It Were Already A Fact in 2012

Original photo by Clare Cassidy Photography, artwork by Heather Withrow.

If the functions of the Cogswell-Macy Act were already in place in 2012, two years after Orion was born, believe it or not, we may still be living in Maryland today!

In a nutshell, the Alice Cogswell-Anne Sullivan Macy Act is an improvement on IDEA (Individuals with Disabilities Education Act) particularly for students who are deaf and hard of hearing, blind and deaf-blind.

Texas is a hidden blessing, though.  It's a different kind of beautiful than I'm used to growing up in the Seattle, Washington area.  Austin is bisected by "Lake" Austin, just like the shipping canal, Lake Union and the Ballard Locks bisecting the Emerald City. Both cities don't have a professional basketball team.  Both cities have city-favorite post-secondary institutions in University of Washington and University of Texas. However, the resources available for my children are not similar to what is available in Texas.  Again, if the Cogswell-Macy Act features were already in effect nationally, the entire state of Washington would be educationally viable for my sons.  I would have had a great case for us to move to Seattle to join the rest of my family in the region where several generations of my extended family lived/lives.

Our situation in Maryland in 2012 was that with the diverse needs of our 3 children, no matter how we strategized it, only two out of our three children would have appropriate support and education in school. Our oldest son, Skyler, is Deaf, our hearing daughter is a KODA (hearing Kid Of Deaf Adults), and our youngest son, Orion, is DeafBlind.

We looked at 5 other states across the USA, the programs and services were so diverse. Coming out on the top for at least the Withrow family's needs, were the Texas School for the Blind and Visually Impaired (TSBVI), the Texas DeafBlind Outreach, and the Texas School for the Deaf (TSD).  Quite an impression was made on my husband and I seeing the qualified personnel working with Deaf and hard of hearing students at TSD and interveners working with deafblind students of various abilities at TSBVI.  What we saw was exactly what our DeafBlind son, Orion, needed to thrive in a learning environment!

Interesting tidbit: Thomas' father, Thomas, Sr., was born and raised in Dallas.  He graduated from Texas School for the Deaf in 1949.  He would've been so pleased he has grandsons at TSD today.  Thomas, Jr. was also born and raised in Dallas but since TSD was an overflowing district placement-only program at that time, his parents were unable to send him to TSD. Because of that, they moved the family to Maryland to enroll at MSD.  Thomas was 10.

Back to the main story line.  Sadly, the consistency and continuum in support and qualified personnel, both for Deaf and hard of hearing and deafblind students, as seen in Austin, Texas is not seen in all fifty states! 

Family members of deaf blind children in other states have contacted me (and I'm glad to help!) for advice how to get their DeafBlind child the appropriate support he/she needs. 

What is the point of having a free and minimally appropriate public education if you don’t have qualified personnel ready to help make it “stick” in a concrete, non-abstract way? 

We parents are not asking for a Cadillac education.  Even with a good ol’ Ford education what good is it if you can’t ‘see’ it in order to drive it?  That’s where trained and qualified personnel can and will make a difference!

"What you do makes a difference, and you have to decide what kind of difference you want to make."-Jane Goodall

Ah, I can dream of this happening in all fifty states, can I?  I'll dream and keep on trying to do my part for our children.  Sometimes I feel like a little speck with a little voice... but then I remember Dr. Seuss' Little Cat Z who has "Voom" in his tiny striped hat?  (In "The Cat in the Hat Comes Back", Voom went on to clean up all the mess the Cat in the Hat, plus the other cats B, C, D, etc. did! Everything!)  So, we need a Voom... no, a bunch of Vooms to make a boom for our children who have similarly-sized (a.k.a. low-incidence) "disability"! 

Who will be our Thing D and Thing R introducing the Cogswell-Macy Act on the Senate floor?
A Cat In The Hat with a mobility cane.
Illustration by Heather L. Withrow, 2016.
(Description: illustration of the famous tall red and white hat, sticking out of the bottom of the brim are black feet, black tail and a black hand holding a mobility cane.)

I know there are voomers out there.  Keep on vooming!  Deaf, blind and deafblind children should be able to get their free and appropriate public education exactly where they live. They should not have to move to the state next door or across the country.

Cogswell-Macy Act Information

Watch H.R. 3535, including sponsors by party, in govtrack.us: https://www.govtrack.us/congress/bills/114/hr3535

Wednesday, March 9, 2016

Families of DeafBlind Children for the Cogswell-Macy Act (VIDEO)

This is a video project I wanted to do to show who are behind each deaf-blind child: their families!  Who also makes a difference in deaf-blind children accessing their education? Trained teachers of the deaf-blind and interveners!  

Families of deaf-blind children were so gracious sharing their family and school pictures with me for this project. I was deeply touched and happy to put together this video and get it out there.  Orion's big sister, Anastasia, narrated this video!

The video was released on March 2, 2016, the same day 100 people were on Capitol Hill visiting our US Representatives and Senators to talk about this important bill that needs to happen.

Description of the narration/subtitle/images is underneath the video at it's main location in YouTube.