Avery Grace

Avery Grace

Thursday, February 25, 2016

Not. Again. News about our precious special needs kids.

I feel like I've been hit by a bus.  A familiar bus, but not the exact same bus.  Similar, but different.  And I am oh so weary of different.
We've been on such a high lately!  Paxton's fast and miraculous recovery from his brain surgery to place his VP shunt has been nothing short of spectacular.  In two short months he is starting to walk and talk up a storm.  We REALLY felt like our boy was catching up!  On his way to neuro typical town!  Headed to complete recovery!  Then... BAM.  A sucker punch.  Rewind four months.

Four months ago our geneticist, who is familiar with our family because of Avery and believe it or not, Presley, ordered a WES test on Avery and Paxton.  Because it was a Whole Exome Sequence test, the lab also had to have blood from me and Bryan, to determine if any abnormalities they might discover were inherited from either one of us.  It was a precaution.  To rule out any other reasons for Paxton's delays other than his diagnosis of hydrocephalus. The test is EIGHT THOUSAND dollars per kid.  Thank GOD, our insurance covered most of it. In the meantime, we celebrated Thanksgiving, had a little brain surgery for our boy, went to Atlanta for an awesome Christmas, and came back home to start schools, therapies, and for me and Bryan to get back to work! We were in a zone- moving onward and upward.  Then yesterday happened. Gut check.

A big, thick envelope arrived from the geneticist.  What a shitty job a geneticist has delivering such life altering, devastating news.  So I guess that's why were were sent the written form.  First, the interesting/(not as devastating news):  Avery holds a diagnosis of Rett Syndrome from the leaders in the field.  90% or more of Rett cases have a mutation on the MECP2 gene- but she doesn't.  Hers is a clinical diagnosis, meaning, she has enough characteristics to qualify, but all the genetic testing we have had done in the past yielded no explanation.  Until yesterday.  Apparently, a few isolated cases of girls with Rett Syndrome have a mutation or deletion called 22q13 Deletion Syndrome, or Phelan McDermid Syndrome.  It fits Avery to a T.  Severe Autism like symptoms, seizures, motor difficulties, scoliosis, dystonia, non-verbal, not toilet trained, teeth grinding and constant chewing of clothing or hands.  It is actually a relief to finally have an explanation for her differences, and to learn that it is a "de novo" pathogenic condition, meaning, NOT INHERITED and "disease causing." So HALLELUJAH!  We didn't actually do ANYTHING to cause our daughter's struggle.  It's a genetic mystery. Damn.

Then, there was another genetic mystery.  Fuck.  I can't do this.  Not. Again.  Not another one of my beloved children.  Precious Paxton.  It seems our sweet baby boy also has a "de novo" genetic mutation on the DNMT3A gene that changes the amino acid arginine (R) to tryptophan(W).  Sound confusing?  I agree.  Unfortunately, his syndrome, termed "Tatton-Brown-Rahman Syndrome," is associated with a pattern of intellectual disability including seizures, scoliosis, and congenital heart and brain defects.  Paxton's diagnosis is COMPLETELY different and unrelated to Avery's diagnosis.  Are you fucking kidding me? Excuse my language... actually, if there has every been a time to over use the word FUCK I think that time is now.  If you don't like it, fuck off.

So there you have it.  Our happy train to progress town was just hit by that bus.  I know we will heal.  We will be repaired but never, ever, ever be quite the same.   I feel mad, and sad, and mad.  I don't want to talk to anyone, but the best thing I have ever done for myself was to go to work today and be useful.  Thankfully, I LOVE my job, and help lots of kids and families who need it. But I am spent.  I am angry and exhausted, and "devastated" doesn't begin to cover it.  Could things be worse?  Absolutely.  So, I am reminded, once again, to shift my focus to gratitude.  In my head I know that I should still be celebrating my beautiful children and all that they CAN do. And I will.  I will get back there.  But bear with me.  I have been down this road and am NOT looking forward to it again.  In the word of our genetist "it seem's highly unfair for a family to have TWO unrelated de novo mutations in their children."  I couldn't agree more.  And if I am happy about anything, it is to have some answers that will lead us to the right doctors and therapies for our beloveds.  Pray for us as we battle insurance companies and financial challenges to get the RIGHT care for our special kids.  Keep us in your thoughts, if you will, as we face the coming days of depression, sadness, and heartache.  We may keep our distance, but we need you in our corner.  Loving us.  Lifting us up when we are weak.  And helping us find our strength, courage and joy in the days to come.

Paxton: http://www.tbrsyndrome.org/individual-profiles.html
Avery: https://www.researchgate.net/publication/275664951_De_novo_SHANK3_mutation_causes_Rett_syndrome-like_phenotype_in_a_female_patient

Christmas letter 2015

There are so many beautiful reasons to be happy. 

There is a peace that comes with caring for those who are suffering.  No matter what they must endure, the humility and purpose that arises from delivering compassion, love, and even mundane daily support can uplift us, even in the most dire of circumstances. 
I waited to write this letter until the (hopefully) last of the Beeson health struggles of 2015 had a resolution.  My beloved baby boy, Paxton, was released from the hospital yesterday following brain surgery last week to treat his hydrocephalus/ventriculomegaly.  Little man endured the surgery like the super-hero that he is, and he is busy resting and recovering in the secure arms of daddy’s lap as I sit here at my computer screen.  When we got home yesterday, I couldn’t wait to see all of my girls, and begin the tasks that I all too often complain about.  Meal prep, helping with arts and crafts, refereeing hourly spats between my middle two loves, and helping Avery complete every single aspect of daily living from feeding to diapering to self-care and mobility assistance.  In doing so, a calmness overcame me, as I realized the crisis of the moment was over, and together we could celebrate just BEING.  Without drama, fear, or anxiety.  In that moment, and a thousand others like them, I am reminded of the magnitude of grace, love, joy, hope and kindness that surround and encompass me daily,  And that whether I choose to recognize it in the moment or not, there is always, always something to be grateful for.

Like all of you taking the time to read this, the six of us have had a year of ups and downs.  Our hearts are stronger for the aches they’ve endured, and our hopes are fueled by little leaps of progress and by keeping perspective in mind as we march forward in our journeys both individually and collectively. 

Avery is 9, and since many of you always ask, she is still lovely, silly, sassy and easy though her mind and body are wrecked by Rett Syndrome.  She doesn’t speak a word, but seems to connect a little bit more each year, and though she is taller and heavier, making caring for her sometimes more cumbersome and difficult, she is innocent and precious.  She still loves her ipad(s) and lounging around at home.  She also tolerates many hours of therapies, and gets to ride horses on the weekend when the weather permits. 

Kaylin is 7, and precocious and bright.  She loves to swim, play volleyball and basketball, play with her siblings, carry her brother around, and be right in any argument.  She is an excellent speller, learning to be a good friend, and is going to be an awesome babysitter one day. She gets to participate in “sib-shop” this year, which offers support for special needs siblings. We are so grateful for this program. It’s fun and fascinating to watch her find her way in this world. 

Presley is 5- how on earth did that happen so fast?  She is also a shining light in our family, and is quite the jokester.   She LOVES to swim and takes dance classes- which are adorable and hysterical to watch.  She is learning to read and spends most of her free time playing with babies, asking questions, or watching you-tube kid videos promoting new toys.  We love this little fashionista. 

Pax-man will be TWO in January.  He is quite the character.  He loves throwing balls (and pretty much anything else he gets his hands on), watching his sisters, being the center of attention, being held by his momma, snuggling, and Mickey Mouse.  He is learning to walk and talk and is so much fun to be around.  The kid smiles ALL the time.  Though developmentally delayed due to the differences in his brain, this boy makes up for it in personality, and we have all the hope in the world that the surgery he just endured along with awesome therapists, doctors and caregivers will afford him the most awesome opportunity to THRIVE.

Bryan and I are blessed to both have jobs/careers that we love, and are very thankful to be able to come together for date night about once a week to remind ourselves how much we also really do love each other.  Four kids, especially ones with needs like ours, is a lot- but we wouldn’t have it ANY other way, and though it is often chaotic and loud, our lives are made from the moments we care for each other in everyday living.  I’m always telling my girls that the MOST important thing we can do in our life is be kind.  Kind to ourselves, our loved ones, our friends, acquaintances, and strangers.   So many of you have reached out to us in our hours of need.  We have literally been SHOWERED with kindness over the last year.  From well wishes to prayers, to meals, to watching our kiddos, THANK YOU.  From the depths of our hearts, thank you.  For not only showing up, but for showing our kids that kindness matters.  You made our spirits bright.  And in a holiday season that was shadowed with fear, you brightened it with hope, cheer, and love.                
Lots of love-  Bryan, Jenny, Avery Grace, Kaylin Joy, Presley Hope and Paxton Graham Beeson