Avery Grace

Avery Grace

Tuesday, December 27, 2016

2016 Holiday Letter

2016.  There was laughter and yelling, joy, heartache, adventure, stress, hard work, kisses, hugs, tears, and a whole lot of love.  There were sleepless nights in hospital beds, and magical trips spent with loved ones and friends.  The good days far outweighed the bad, and time marched on as it always does.  If you know me via social media, this holiday letter may seem redundant.  But, any chance I get to share our story of hope, perseverance, unique needs and the raw, hard and sometimes beautiful reality of disability and disease- offers me the opportunity to heal, and hopefully make someone out there feel a little less isolated. So here goes again… The 2016 Beeson holiday letter.

The year started off strong!  The middles (Kaylin, 8 and Presley, 6) were thriving in school.  Presley was making us laugh every single day, finishing up her last year of preschool, (how is she in kindergarten already), Kaylin was making friends, playing volleyball and acing her spelling tests.  Avery was steady and surrounded by her loving teachers, therapists and caregiver- all who have known and loved her for several years, and Pax was astonishing all of us with his miraculous recovery and rebound from his brain surgery in December 2015 where his neurosurgeon placed a VP shunt.  Shortly after his second birthday in January, he began walking and talking in short phrases.  We were on cloud nine.  Those days were so blissful.  Then came some harder days.

At the very end of February we received a letter from a geneticist that rocked me to my core.  Avery (10), Paxton (2), Bryan and I had all had blood drawn in October for Whole Exome Sequence testing to determine any new genetic abnormalities that might explain their (Aves and Pax’) delays/disabilities.  New advances were being made all the time, and though all previous genetic testing for Avery yielded no meaningful results, this time was different.  It was, quite frankly, a relief to finally have answers for Avery’s condition.  Avery has a mutation on the SHANK3 gene on her 22nd chromosome causing a condition called Phelan-McDermid Syndrome, or 22q13.  She is still followed by Rett Syndrome specialists since she fits the clinical diagnosis criteria, but now she is also seeing researchers, neurologists and many other specialists specific to her new diagnosis.  We are so hopeful and prayerful that time, precious time, will bring forth new treatments for her struggle.  She is such a delight in so many ways, but is so limited in her ability to function independently at all.  She still needs assistance in every single part of her day from diapering, feeding, walking, hand washing, any self care etc.  She is our silent angel.  Also in the letter (the part that quite literally brought me to my knees) was the information that Paxton also has a genetic mutation.  His genetic mutation is on the 2nd chromosome, and is associated with an intellectual disability, seizures, which we also got to experience with him (first time) and Avery (as usual) this year, overgrowth, risk of cancers/leukemia specifically, as well as possible heart and brain abnormalities. His condition is called Tatton-Brown Rahman Syndrome, or DMNT3A.  This was a BIG blow. Our kids each have a very (VERY) rare, and different, pathogenic genetic mutation- and neither was was “inherited.”  What are the odds.  It all just seemed like crazy, bad luck.  My heart was broken that day and in the few days that followed.

Just like we alway do, we picked up the pieces and began to learn. Time was spent researching, seeking out doctors/specialists, trying to help our two medical mysteries as much as we could, while still trying our best to find regular, everyday joy with all four of our little lights.  This family tries hard not to leave out our “typical” little blessings. Presley and Kaylin were enjoying their individual activities, as well as gaining interest in participating in the therapies that help Avery and Pax. They love to hear from Avery through her communication device on her iPad, and to help Paxton gain speed in his motor and cognitive abilities.  Both middles were happy and healthy, thank God.  In the late winter and spring, Paxton was sick (ALL THE TIME) and we added a few new diagnoses to his growing list.  Asthma, Eosinophilic Esophagitis-  all of which landed us in the hospital several times for pneumonia, fevers, vomiting.  Our beloved nanny took an ambulance ride with Pax following his first full blown seizure-  and we were left scrambling as to why he couldn’t seem to get well.  On a developmental level, however, that warrior baby boy continued to thrive.  And we were so thankful for that.

Gratitude is the glue that holds my sanity together.  In July, we were lucky enough to get to spend a few precious weeks in Georgia.  Soaking up the sun with family and loved ones- enjoying a bit of normalcy in our less that “normal” seeming lives.  The end of summer brought new hope as Paxton started school at St. Phillips Episcopal, our favorite preschool,  Presley and Kaylin were in kinder and third at the same school, and Avery was back with her tribe of supporters at her school.  Avery’s interest in drinking enough fluids was waning at this time, and in October, she had a G-tube placed in her abdomen to improve nutrition/hydration. She glided through that like the champion that she is, always reminding us of her strength and grace. The button on her belly has actually been a blessing.  It is nice not to worry so much about her intake, as now we can control it when needed. In November we learned that Paxton has a primary immune disorder (another new diagnosis) and will need IVIG transfusions monthly for the foreseeable future.  We are battling insurance now to get that started- and are trying to wrap our brains around yet another diagnosis we weren’t expecting and that no kid should have to battle.  His immunologist did some research on Paxton’s specific genetic mutation, and believes that the genes next to his mutated genes are responsible for his lymphopenia, or lack of T-cells.

On a lighter note, Bryan and I both love our jobs, and even had a few quick getaways to Vegas and NYC.  And we still regularly enjoy date nights about once a week.  We could NOT do any of this without a tremendous commitment of help- and we are beyond grateful that our kids are so loved and cared for by the amazing April.  She makes our lives so much better- and brings lots of laughter, organization and creativity in to our home every day.  Speaking of support, I couldn’t possibly write about this year without mention of my mom.  If you know my mom then you know she works hard, loves fiercely, and is about the best caregiver of physical and emotional support out there.  Though she lives in Atlanta, we have been so so lucky to have her come visit and help us frequently (about every 6 weeks.)  She gets our “hard” and she jumps right in to the chaos.  We are extraordinarily blessed to have her, and countless other family members and friends who love, support and cherish us. I know it is cliche, but it really does “take a village.” On our bumpy and windy road we have been offered such profound kindness and grace.  No word of support goes unnoticed or unappreciated.  Truly.

Heres to being connected to you, our friends and family.  Though we many not see you often, you matter to us.  Nothing is ever lost to the heart, which is why we can pick up where we left off the next time were together and know our feelings for each other have not changed even though our hair continues to grey and our faces have a few more lines.  May your new year be blessed with connections that fill your life with joy, gratitude, peace, love and laughter.  

May your road be full of wonder and magic, may you find enriching time with friends and family, and may all your Holiday wishes come true.  
Bryan, Jenny, Avery Grace, Kaylin Joy,

Presley Hope and Paxton Graham Beeson

Kaylin 8

Paxton 2

Avery 10

Presley 6

Tuesday, April 5, 2016


My brain has been all wrapped up in labels.  I am a word girl, and a girl often times pretty riddled with anxiety, so when I can't make sense, or better yet, can't change or have any control over something, I go over and over and over it in my mind, slowly making myself crazy.  I have read the letter my kids' geneticist sent regarding Avery and Paxton over 50 times at least.  I have already clocked in dozens of hours of new research... just since the end of February, trying to make sense of it all.  But it doesn't make sense.  It's a statistical anomaly.  I have had several sleepless nights, and gone over and over the words in my head, and I keep coming back to the fact that two of my children are now categorized by the "level" of their intellectual disability.  One profound.  The other mild to moderate.  So then I google what all that means.  Mild to moderate.  Doesn't sound so bad right?  Wrong.  Even when you have a precious child on the most severe end, it still aches pretty deep when the outcome isn't what you hoped this time around. Even though "intellectual disability" sounds nicer, it is still what I grew up understanding as "mental retardation."  It still means he will struggle. In a way that children just shouldn't have to struggle.  It's so cliche to say it, but it is just. not. fair. 

We've had a rough week.  Paxton got sick first.  A random fever, that led to his first ER visit of the week, then another visit the very next day when he took an ambulance ride after having a big bad seizure, scaring the crap out of all of us.  Kaylin got a fever a few days later, landing us back at the dr for answers, where Paxton tested positive for strep, and here we are, on day 9, and Presley is upstairs with a 105 fever, while I am hoping and praying that Pax and Kaylin are finally on the tail end of this beast.  Anyway, all that to say, I am tired.  And weary.  And overwhelmed at the stress we all have worrying about a fever causing another seizure, missed school for my kids, missed work for me, and the relationships I damage by talking while exhausted and making decisions based on fear and hurt.  But I digress.  Today Paxton also had his annual ECI evaluation, and I was supposed to attend a meeting about Kaylin at her school to prepare for her IEP.  Yep, you heard that right, Kaylin also has an individualized education plan to address her pragmatic (social) delays.  It's A LOT. 

All four of my children have some type of label.  They are boxed in to a category, but it's not what defines them.   Be it a medical diagnosis, (multiple in Avery and Paxton's cases) or a learning difference, all of my kids have been assessed, tested, and examined over and over again.  And even though professionally I have been on the opposite side of the table hundreds of times, it still never gets easier to watch or hear where your child falls when they are categorized as being "different" or "delayed."  I have always sought knowledge to ensure my kids' are getting all that they need, but in doing so, have sometimes overlooked the MOST important label:  awesome kids.   I need to take a break from the computer, from the research, from the worry and the stress, and just remember how incredibly blessed and lucky I am to be their mom.  I remember when Avery was first diagnosed with autism at age two, I kept thinking:  "I just want to move to an island with my little family where we can just be normal."  And now, eight years later, and I still just want to feel at peace. To take a deep breath and not worry every moment about every small decision I make on their behalf.   I can't do that as long as I hold this sadness, anger, fear and stress, but I can take some tiny steps towards that goal, starting with letting some of that go.   I hope and pray that my kids feel and know how special and important they ALL are, regardless of ability and skill.  That they are beautiful, loving, and wonderfully made.  Would I take away their pain and suffering in a minute if I could?  You betcha.  But I can't control that.  All I can do is to keep trying my very best to ensure that my kids know they are simply- awesome kids. That's a category I can wrap my brain around. 

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