Welcome to Holland

The outgoing speech therapist at Vista del Mar, Carol, told me about this poem.  It stuck with me and it's a lovely introduction to the life I had never imagined but now find myself living.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

c1987 by Emily Perl Kingsley. All rights reserved

The Day of the Diagnosis

Email below was sent to our friends and family.  I fully realize that it's a lot of information - but this is the condensed version of what I went through the morning the doctor informed us of our son's syndrome.

Everyone and their mother has asked me, "if there's anything I can do to help, don't hesitate to let me know".  Well, read the email below.  That will help.  When you read something you don't understand, Google it.  That's what I had to do.  You can help me by helping yourself to understand my child's condition.

Dear Friends & Family,

Darus has been diagnosed with Phelan McDermid Syndrome (22q13).  Jonas and I met with our UCLA geneticist, Dr. Barbara Crandall, this morning and learned the following:

Darus’ case is rare and different than the majority cases of PMS because of a change/mutation (not deletion) in the base of the SHANK3 gene on the 22nd chromosome.  It is heterozygous.  It is de novo – Jonas nor I are carriers.  The geneticist believes that this happened in either the egg or the sperm – preconception.  This would not have been detected w/ an amnio nor a Maternit21 test because there was no chromosomal change.  The chromosome microarray that was performed in March 2013 did not pick this up for that same reason.  We learned of this variant mutation via WES (whole exome sequencing) trio.

“The c.4065_4066delTG variant represents a deletion of two nucleotides resulting in a frame-shift and premature termination of the SHANK3 gene.  This variant has not been previously observed in the general population.  Phelan-McDermid syndrome is typically associated with terminal deletions of 22q13.3 encompassing the SHANK3 gene.”

Dr. Crandall seemed eager to point out that Darus does not present with many of the characteristics that typically accompany PMS.  She, however, could not confirm our hope that perhaps his case is/will be more mild than a more typical PMS case.

The SHANK3 gene has gotten a lot of attention recently, as scientists believe it could be connected to autism.  Given all of the autism research currently underway, this is encouraging to me.

There is an exploratory clinical trial that involves using intranasal insulin that has been proven to help typical PMS kids (those w/ the deletion not mutation).  There is a child right now, that has the same dx as Darus (mutation not deletion), that is going to start this trial.  We’ve asked to be connected to his/her parents.  I’m hopeful they will be open to speaking with us about their experience(s).

I’ve registered Darus w/ the Phelan McDermid Syndrome Foundation.  I’ve also connected with a few groups online that I hope will be able to guide us down this new path.  Last, but not least, there is a conference in Washington DC in November that is going to address the SHANK3 gene, and I hope to attend.

Overall, we're doing okay.  It's a lot to take in/absorb/process, but it's nice to finally have answers and a better understanding of our sweet boy.

If you have any questions/advice/words of wisdom, please don't hesitate to send them my way.  This has been and will continue to be a learning curve for us.

Thank you all very much for your support,

With love & gratitude,
Abby