Thursday, August 8, 2013

Chr18 family conference 2013 Savannah, GA

A bit of background...
Abby's primary diagnosis is Chromosome 18q- mosaicism.  She was diagnosed prenatally and we were fortunate to find there was already a group of people with similar diagnosis who had formed a registry and begun research in San Antonio, TX.  We met the group for the first time at a conference in Niagara Falls when Abby was two.  It was a very encouraging time to see so many kids who were functioning so well.  It gave us a lot of hope and fueled our quest to find all the therapy and doctors we could to help her. 

The next year we got my parents & little brother to attend with us in Hershey, PA.  Seeing all the kids and where Abby was headed seemed like a good thing to share with the people who would be doing life with us.  It was a really great time once again.  We learned a lot and made some great connections! 

As the years past after that, I became therapy mom and Andy was research Dad.  We spent endless hours trying to help Abby progress like we saw so many other kids (with her chr deletion) doing.  We had a list serve group we followed, but after time left it and any contact with the registry altogether.  It was too painful to watch or hear about all the kiddos progressing while we largely stood still.  Abby made progress, but walking at six was vastly different than her peers who "walked late" at three.  Speech and other developmental stuff followed similar patterns and playing the comparison game at any level wasn't real helpful.

Fast forward to this year...
The conference moves regionally each year to give as many an opportunity to attend as possible.  It happened to be in GA during the time we planned to be there so it seemed like a no brainer.  Being pregnant with #4, it seemed like a great opportunity to reconnect and learn from other parents around the country. 

We walked into the hotel lobby, surrounded by chromosome 18 kids running around, hugging their friends, laughing and chatting away...
I quickly put my sunglasses on because I couldn't stop the flow of tears
These kids weren't like my girl... 
why did we come?... 
could I stop crying?
I had to keep reminding myself that we still have a lot in common.  I kept preaching to myself what I tell other parents all the time, "We're really not that different.  Our struggles are just different."  
I wasn't feeling it and fought to keep my composure that whole first night as people kept asking for Abby and we tried to dance around the subject.  Not wanting to tell everyone that she probably couldn't handle the change of coming here or that we would've had to constantly peel her hands from pinching, scratching and hair pulling in order to be present. 
She's twelve but functioning around a year. 
I said it aloud a few times, but stopped because it seemed to puzzle most.  From a crowd eager to learn from other parents, we really didn't have a lot to offer.  We spoke to some younger parents of little ones, but didn't know what to say to them either.  We didn't want to scare them.  We've seen the range of development, but truth be told, I'm often glad I didn't know back them what I do now.  They need hope more than anything, but my philosophical beauty with who Abby is and how she impacts others isn't exactly something they can take with them and hold on to yet.
I have compared my Abby to their kids for years.  It's really unfair to do to any kid regardless of their ability, but I've spent years with guilt locked away inside wondering if we missed something or if more hours of therapy could've bridged the chasm between her and the functioning kids I was watching.  Even though I know better, it will eat at me from time to time...

The first session rocked our world right off the bat.  It was a research update.  It detailed the body of knowledge that has been accumulated from all the participants in the research.  They are now able to tell us so much more about how the different sections of the 18th chromosome affect our kids in different ways.  It was really interesting but a bit frustrating as Abby still just didn't fit...
Until they got to the section on the TCF4 gene mutation (Pitt Hopkins).  I found the PH group earlier this year and thought Abby had a lot of similarities, so We saw a genetic counselor and geneticist to get some guidance, but as fascinated as they were with the new developments, they really weren't any help at all.   
The Pitt Hopkins group is very small and mostly just a bunch of confused parents trying to figure it out... much like us.  I joined their list serve last year, but rarely look at it because we've been unable to get a diagnosis because of Abby's mosaicism (some cells are affected and others not affected at all).  The blood tests only look at 20 cells which isn't enough to find anything and her blood seems to be the least affected altogether.  Her neurological cells seem to be the most affected, but not an area they would take and study.  The more we looked into it the more we found a fit as we looked at the pictures of the kids & read about the kids.  I was letting go of the need for a diagnosis, but wondering if it would be helpful for others to have our experience without knowing for sure. 

what does Pitt Hopkins mean for Abby?
It's not as if these stats are surprising, but the reality of them in black and white was tougher than I'd expected. 
These two specifics still leave a lump in my throat...
•Average Development: 4-11 months
•25% lowered life expectancy
Reality is she is developing better than those stats.  She is relatively healthy, but it changes the future outlook drastically. The session on planning for her care after we are unable to do it or gone altogether was overwhelming, and the reality of her dying before us may be best, but... All this info at the same time was simply  too much to take in.

I was hopeful to get some pointers on behaviors, but found all the info beyond where we were or most likely would ever be. We got a moment with the presenter afterward just to hear a logic that had been lost on me up to this point...  Abby is functioning around a year of age... there is no behavior plan for a one year old...  we need to find ways to restrain her and isolate better... 
That sucks

Endocrinology took a big breath and said her development is unlikely to progress much at this stage...
This is our life.  It's unlikely to change much.  We don't give up trying, but we must hold progress lighter than we did and focus on managing.  I've kept hoping through these stages to pass.  How many times have I looked into her eyes and asked her what she needed just to be met with a blank stare? 

This week I cry. 
I take it in, let myself cry... and slowly hand it off to someone who can help us continue to find purpose in this life we've been given. 
I let him make something beautiful out of the mess before me instead of trying to pick up those pieces and put them together myself.
I trust in what I don't see and find peace in Him rather than what I feel. 
This is the plan of action... a work in progress... rather than a reality I'm walking in... I stop fighting and constantly analyzing the "why's" of Abby's aggression and looking for better ways to keep her busy, restrain, and isolate if needed.  Relieving myself of the guilt of not having those answers and not being the supermom who can always calm her or figure out what is wrong or right.  Not letting myself get frustrated with her and knowing she has answers locked away that we may or may not find.  Hoping and praying for peace in her, but still enjoying the smiles, hugs and giggles and not focusing on the other as much as possible.  Realizing how much energy and emotional strain I spend on things I cannot control... letting go... again and again...

Lest you think it was all tough, there were a lot of really high points...
•Feeling useful to help others through the pains of this life similar to ours. 
•Connecting with another Pitt Hopkins family
•The possibility of getting testing through the research center
•helping prepare for the future
•Meeting some local families from GA, SC & MN
•Answers to some of our questions
•time away together :)
•Visiting Savannah and Tybee island
•Watching the other siblings at the conference and giving us hope and direction for our younger girls
...we learned a lot of things we weren't looking for that will be helpful :)

We took walks between sessions and enjoyed our time together. 

Sibling panel

Spanish moss... Neither Spanish nor moss but beautiful all the same :)

1 comment:

  1. I was waiting to hear about the conference :) I love you sis!


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