Global Genes Summit

Global Genes held their fifth annual summit this past week and I had the opportunity to attend.  It was an incredible experience, so much so that I’m already signed up to attend next year!  In addition to meeting all of the wonderful rare gene advocates, researchers, scientists, doctors, etc., I also had the pleasure of meeting fellow PMS Advocates: Diane Linnehan, Mary Cobb, Briana Vartanian and Liz Horn.  The summit has inspired me to work harder towards finding help for my son and all of our children.

One of my biggest takeaways from the meeting was that I am proud to be a part of the Phelan McDermid Syndrome Foundation and Family.  I learned that there’s a typical course of action that happens when one is diagnosed with a rare disease.  If you’re fortunate, others have gone before you and cleared the path.  If not, it’s suggested that one start an advocacy group, begin a natural history study, set-up an international registry and identify biomarkers.  These are all necessary steps before one can move forward with developing better therapies/cures for your rare disease.  You can imagine why I was PhelanLucky – we already have all of these items in motion!  A big thank you to all of the parents and advocates that have tirelessly cleared the path in front of us! 

Now, it’s time for us all to make sure we’re sharing complete information within the PMSIR.  If you have not already registered, and/or if it’s been awhile since you’ve updated your information – please don’t wait any longer.  Our families truly depend on your input as do our scientists and researchers.  Just think – the data, including your child’s genetic report, that you supply has the potential to hasten the development of new therapeutics and, eventually, cures for PMS and related disorders! 

Individually, we are one drop, together we are an ocean.

 

EEG Results

Results from Darus' EEG are in. Abnormal activity has been detected. They didn't see any seizures, but the abnormal brain waves (spikes) indicate it's possible he is having seizures periodically. Anti-seizure medication (Lamictal) has been prescribed. We will follow-up w his neuro in 3 weeks.

I am sad but am thankful that we caught it and can start to treat it. And, if his brain begins to function better, we might see improvement in other areas.

Additionally, I'd like to thank the few PMS moms that private messaged me their concerns of absence seizures after they watched a video that I had posted of Darus on our PMS support group page.  (It's also posted here on 8/18/16.)  

(For the benefit of other parents - and to help me remember as well - it's been suggested that we slowly but surely ramp up to a therapeutic dose of 125 mgs/daily.  It will take us 10 weeks to get to this dose.  Darus is currently 6 years old, 48" and 63 lbs.)

2nd 24-Hour V-EEG

Today marks the second time my brave little boy has been hospitalized to undergo a 24-hour V-EEG.  I am proud to report that Darus has been a complete champ this go around!!  He laid still, mostly, for the 45 minutes that it took the technicians to glue 25 leads to his head!  He hasn't tried to escape our 'hotel room' and has been extremely tolerant of the mummy wrap on his head and the revolving door of doctors, nurses, clinicians, residents, etc.  The test is well underway and he's now snoring away in the hospital bed next to me as I type.

 

2016 PMSF 24 Hour Giving Challenge

This Friday Darus will undergo another 24 hour V-EEG at Mattel Children's Hospital. In addition to the regression you can see below, Darus has suffered regression in other areas. The EEG portion of the test will continuously record Darus’ brain waves, which will then be analyzed for any anomalies that might be causing the regression. Please consider showing your support of Darus and solidarity of our greater PMS family by 'liking' the 2016 PMSF 24 Hour Giving Challenge page. Thank you for your consideration! (Special thanks to PMS dad Rick and PMS mom Jennifer – and all others – that have worked tirelessly to put this together to afford PMSF this incredible opportunity!)

Traveling Emily from the UK

Emily Feddersen has travelled hundreds of miles from the UK to meet her Phelan-McDermid brother, Darus, as part of her raising awareness trip around the world. The Lagunoff Family is #PhelanLucky that we were invited to host her here in Los Angeles! Our first outting with Ms Emily was to Will Rogers Beach (where parts of Baywatch was filmed!), our favorite beach!

Please 'like' this page to follow her journey ::https://www.facebook.com/365daysphelanlucky/

 

 

Caroline's Cart

I sent the email below to our local grocery store manager.  Here's to hoping he'll see the value in getting a cart like this for his store.  I was quite surprised to see that although there are a few hundred Caroline Carts in California - not a single one in Los Angeles.  Here's hoping we'll be the one to change that!

 

Dear Mr. Kim,

I hope this email finds you well!  My family and I have shopped at your Ralph's store since moving to Westchester in 2011.  Our son, Darus, has Phelan McDermid Syndrome and shopping with him has become increasingly difficult.  He used to fit in the cart, which made things doable, but he no longer fits, and trying to wrangle him while pushing a cart and filling it with groceries has become nearly impossible.  

I realize I could buy groceries online, but, honestly, we really like going to your store and I believe it's good for our son as well to have the social interaction.  Your employees have all been super kind and friendly!  We always say hi to Jerry in the produce department, buy our sliced Boar's Head turkey from Bernard in the deli and get checked out by Sylvia - everyone's favorite cashier!

I've recently heard about Caroline's Cart:

http://www.carolinescart.com/

Have you heard of it?  I'm writing to you today in hopes that you might consider obtaining one for your store so that we can continue to shop there.   

Thank you very much for your consideration,
Warm regards,
Abby

"Momomom"

Darus' language seems to come and go.  Sometimes he's willing to repeat many words that I ask him to say ... and other times he's not.  I got this video this morning before we left for school.  Prior to my taking the video he was actively repeating words I'd ask him to say.  As soon as I got my camera out, he got kind of shy.  The original video was 38 seconds, of me coaxing him to say momma.  I cut it down to what you see here - which I think is 18 seconds.  I've watched the video many times and it's interesting to me to watch his eyes/eyebrows move with his mouth.  

About 45 minutes after this video was taken, I was dropping him off at his classroom and at the door, through tears, and with some verbal prompting from his teacher, he managed to say, "bye mum".

Momomomom ... Darus talking.

First Day of Kindergarten

Darus started kindergarten today!  Words cannot express the joy and pride I felt as he confidently walked from the car to the school yard to his classroom.  It was only his second time ever at this brand new school yet he navigated with such precision.

I know many might take this rite of passage for granted, but not me. It was a very difficult decision for us to make.  We left behind a very special special needs school that he had been attending (the last 2 years) to join the ranks of a bonafide LAUSD public elementary school.  I'm thankful to all that have gone before us to make this day possible!  I've felt warmly welcomed by the Walgrove community and look forward to being an active part of it! ‪#‎walgroveelementary‬ 

Project Believe by Karen Haberberg

I first heard about Project Believe earlier this year via another PMS mom in Canada. I contacted the author, and as luck would have it, she had planned to be in Los Angeles in June.  We were honored to have met with her and to have been included in the project. 

The author, Karen Haberberg, is a NYC photographer that has been moved to help those of us that are dealing with rare genetic conditions. The Kickstarter video below explains it all, much more eloquently than I can:


Please watch the video and if you are able, please consider backing the project!

#careaboutrare #phelanmcdermidsyndrome #globalgenes #globaldevelopmentaldelay