Sunday, May 22, 2011

Marching Into the Abyss

One by one, we are marching on. It is hard for me to believe that Miss Ava is officially a kindergartener. Tuesday night we attended her stepping up program (close to 95 preschool students from the district participated) and she did amazing. The kids sang and performed as individual classes and as a whole for 3-sets. They entertained us with an array from hand-jiving and singing to yoga and it was super cute. At the end they were given their stepping up diplomas and proclaimed kindergartners! Ava made it through the entire production with no melt-downs or over-stimulation, we ALL were so proud of her.

Thursday was her final day of preschool in Milliken. Next year, actually in June, we move on over to Pioneer Ridge in Johnstown. Hopefully we all survive this summer…

I finally received that letter I have been anxiously awaiting from the Inherited Metabolic Diseases Clinic late this week. It was lengthy and nicely outlines the numerous diagnostic testing, hospital stays, etc. that she has had in the last 5-6 years. It also spells out the next 3-tiers of testing and care based on the clinics recommendations should they have no diagnosis after the following; the first tier of testing consists of 12 items.

They are ruling out Retts Syndrome (no deletion/duplication analysis has been done in the past as it was unavailable) due to the screaming, not hands as I had thought. She doesn’t present this way clinically at all so this probably closes the door on this syndrome if the testing is negative.

There is also a lot of biochemical testing going on for the early onset epilepsy that bears no rhyme or reason to me as a layman so I’ll report that so far her homocysteine levels are mildly low, this level is usually high when outside of the normal range and it is too early to try and explain why. I’m learning that the heart and kidneys are going hand in hand with all their current suspicions.

The first guess the metabolic Dr. has to better explain Ava is Mowat-Wilson Syndrome (ZEB2 gene); less than 200 reported cases to date so the clinical stuff is really undefined in regards to standards. It’s a phenocopy of Angelman’s Syndrome and the first diagnosis I just might buy should the testing come back positive. She lacks the ear characteristics and digestive disease but does have digestion problems. She would also be the first case to have CVI but not the first with opthamalogical problems.

The neurologist suspects Epilepsy with Electrical Status Epilepticus during Sleep (ESES) and so do I. We will be visiting the Epilepsy Monitoring Unit (EMU) in the near future. The next genetic testing will rule out Rubinstein-Taybi and Goldberg-Shprintzen should the MWS come back negative. For you technical folks the next genes they will be studying are STXBP1, ARX, FOXG1, CDKL5, and POLG1 genes.

So we wait, and wait.

On a much lighter note, the first Colorado Ben’s Bells distribution was last week! I have a post to share soon, it was a wonderful experience. It was also the girls’ and mom’s first trip to Red Rocks.

The 3RD Annual Strides for Epilepsy Northern Colorado event was a huge success! We made around $21,000 and had a great turn out. WOW, do I ever feel the love! Ava’s Troops raised almost $3,000 of that total. A big part of our team funds were graciously gathered by my wonderful friend, Kirsten. We are touched deeply by the support we received for the event.

“The true meaning of life is to plant trees, under whose shade you do not expect to sit.” ~ N Henderson

Liz would like to report that her garden is coming along...


3 comments:

Robyn said...
This comment has been removed by the author.
Robyn said...

Fantastic work on the garden, Miss Liz, and congrats on "stepping up" Miss Ava. What beautiful little girls you are growing, Amanda.

TherExtras said...

Goodness, she looks very mature in that top photo! Congrats on her stepping up!

The blood testing fascinates me albeit I know much less about it than you. I have several blogs bookmarked - parents of children with Rubinstein-Taybi syndrome - if you want the urls, just ask.

Love gardening! Go Liz!

Barbara