Wednesday, May 9, 2012

Sierra, Isaac

I met Sierra when Maya was 2 months old, and we became fast friends.  Her daughter Isabella is 3 months older than Maya, and they became BFFs as well (they kinda didn't have a choice ;)).  Beyond being just a generally amazing best friend, she has supported me through post-partum depression and anxiety (three times, woooo!), convinced me that I was a good mom when I felt like the furthest thing from it, been "on call" for two births, provided amazing pictures of our family, and helped Michael and I to beautifully document Milo's birth.  My kids are as comfortable with her as they are with me (I think they prefer her some of the time!).  Milo even flirts with her and she is one of the few people he will let hold him.  She is a shoulder to lean on and the first person I think to call when my kids do something funny or cute or frustrating.

The past year and a half has been amazingly challenging for Sierra, and she has been stronger than anyone I know.  Her son Isaac was born with Trigonocephaly and underwent a pretty extensive cranio-vault reconstruction at 6 months old.  The surgery lasted 12 HOURS and was beyond stressful for Sierra and Walter, and I felt helpless watching them wait and pray and wait and pray some more for him to come out of surgery.  After the surgery, a cascade of challenges arose and Sierra dealt with each one head-on and with a determination that impressed me.  After months of doctor visits and beginning therapies for what seemed like unrelated struggles, Isaac underwent another surgery to remove his adenoids, and also had a scope and biopsy.  The doctors ran a bunch of bloodwork at the time, mostly to see if they could pinpoint a reason for Isaac's lack of weight gain.  One of the tests they had run was a genetic panel, and when Sierra and Walter (her husband) found that it had come back abnormal, time seemed to slow down and speed up at the same time.  The following day they received the diagnosis that God had been slowly preparing them for ~ Isaac has Alfi's Syndrome, or 9p minus (which Sierra explains much better than I could, at her blog).  It is an extremely rare genetic anomaly that symptomatically is somewhat similar to Down's Syndrome but, as I said, extremely in 300 known cases in the *world*.

Now, Isaac.  Isaac is an amazing, funny, smart, stubborn, energetic 2 year old.  He is easily one of my most favorite people and seeing the progress he has made over the past year makes me jump for joy and brings tears to my eyes.  Sometimes I read Sierra's blog posts several times over (stalker alert!) just to re-experience his little moments and successes.  The first time she posted pictures of him standing (even though I had seen it in person!), I couldn't stop staring at my computer screen.

Sierra and Walter never imagined that they would be parents of a child with special needs.  Noone does.  But they have stepped up to the plate and done their research and do all they can to give Isaac every opportunity, while also trying to ensure that he is not defined by his diagnosis.  One of the unique challenges they have come up against is that there is not a lot of information available to them about 9p-, and, unlike Down's Syndrome, there is only a very small support community of families that are scattered around the US and the world.

So...why have I written all of this?  Well, this post has actually been in the works for a LONG time, but I never knew what to say or how to say it or what was appropriate for me to share because it's not my information.  I am the friend in the situation, and I try to balance offering help and support with not being annoying with offering my help and support :)  Isaac (and Sierra, Walter, Isabella) is family to me, and I would do anything for him, but it's hard to know *what* to do.  But now I have an opportunity to do something very small (but hopefully useful :)).  The Chromosome 9p- Network is having a fundraiser, and because Sierra can explain better than me, I quote from her blog:

Hence, the need for this fundraiser. The Chromosome 9p- Network strives to share new information with families and also connect families in order for them to offer support with one another. We have some idea of what the future will hold for Isaac, but on the other hand, there is so little research, that many questions are left unanswered. The 9p- Network is a non-profit organization and made up of parents who work really hard to reach out to other 9pminus families. Any amount of money you are able to donate will allow funding for the annual Yearbook that is printed for each family and also the planning and preparation for the Triennial Regional Conference (which we look forward to attending!).

As printed on the invitation I was supposed to send in the mail:

You are cordially invited to
The 9p- Springtime Tea
In honor of 

Isaac K.

Our tea is given you see, 
To support our 9p- families.
Your funds will allow our programs to blossom, 
so we can help our children, who are awesome!

It's the most delightful benefit you will ever attend, 
And it's just support and love that you will send.
On Sunday, the 13th of May
We'll have a tea, so save the date.

No cookies to bake or silver to lend, 
No linens to launder or beg from a friend. 
You don't have to worry about what to wear, 
And no car fare or parking to give you a care. 

So here is a tea bag, don't put it away.
(pretend you have a tea bag, okay?)
Mark your calendar and remember that day. 
Sit down and relax, sip the tea at your pleasure, 
Your generous gift will always be treasured. 

Place: Home Sweet Home
Date: Sunday, May 13, 2012
Time: At your convenience
RSVP: Give with your heart

9p- Springtime Tea Donation
Donor Name: 
In honor of:
Donation amount:

Please make all checks payable to Chromosome 9p- Network
*Donations from outside the U.S. should be made in U.S. currency or through PayPal at
All donations are tax-deductible. 


And just from our family, thank you for reading our story and supporting our family! 

Sierra, Walter, Isabella, Isaac, and Stella

Please consider even a small contribution to this foundation...anything you can give will make a difference for kids like Isaac :D


After Isaac's tonsillectomy ~ he stayed in the bouncy chair in pretty much that exact position for about 24 hours.  I think he figured out that if he acted really pathetic, he would get to watch as much TV as he wanted ;)

1 comment:

Gisela said...

Thank you for your moving post, Sarah, and being a such a loving and supportive friend to Sierra (and family). You were at the hospital with them when even I couldn't go. Thank you for all your caring and doting on little Isaac.
from Isaac's Oma