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

3 comments:

Alice Clark said...

Hello Jennifer and Bryan,
I just got home from work and saw your post about this unexpected, most challenging news. My heart breaks for both of you. I offer my prayers for both of you and for your adorable babies. I continue to be in awe of the amazingness that you to demonstrate as parents. I firmly believe that God picked the two of you to be the parents of your tribe because of how loving, caring and strong you are. Please know that you are thought of often and cared for deeply.

I had the blessing of knowing Jennifer in high school and she was always caring and friendly to me. It's an honor to remain her friend even if only via FB most of the time. Sending hugs from Atlanta to all of you. Love, alice

Kristen Rhoads said...

My dear sweet friend, it pained me so to read this news.I absolutely hate it for you.I know there are no words to help right now and I know your mad as he'll and sad at the same time.I live you so much and I am here. I'm here if you want to call someone and tell them to "Fuck off!" or if you just want to cry or simply be on the phone in silence. My continued thoughts and prayers are with you always. I love you and your crew so much.

Julia Chalker said...

IN YOUR CORNER! ♡