What did you do this morning?

An innocent enough question, right?  Well, I woke up at 4:48 AM.  Darus is pretty bossy first thing in the morning and full of spirit and energy.  This morning was no different.  Pee had leaked out of his diaper.  I got him out of his evening jumpsuit and straight into the bathtub to clean and warm him up.  I stripped his bed and put the items in the washing machine.  Only to return to see -- our first ever -- code brown!  Ugggggggggggghhhh.  Jonas came to assist.  Darus, of course, thought it was funny and wanted to keep sloshing around and wouldn't get out.  I finally had to pull him out of the tub.  Brought him into the shower in my bathroom while Jonas worked at cleaning up the bathtub.  Overall, I guess, it wasn't that bad, but it sure sucked as it was happening.  All of this and it's only 5:15 AM.  We watched some cartoons and ate some breakfast and then it was off to the beach for a stroller walk and playtime.

I managed to get in 5 miles all while keeping Darus happy in his stroller.  Not an easy feat.  Now that he's getting older, he often times will only tolerate a few miles.  He had fun playing at the park by the beach and then we got a message that some friends were down at the Venice pier so we headed back that way.  Darus had a blast playing in the sand and chasing the ocean waves.  We played until nearly 11 AM and then we headed home. 

Judging Eyes & Condescending Sighs

While out for a walk this morning with Darus we encountered a judgmental and ignorant person. She took one look at Darus and then looked up at me as she sighed and shook her head and said, "really?". I'm not sure if she was questioning why my 6 year old (really, he's 4, but looks like he's 6) was stuffed into a jogging stroller or because it was, in fact, sprinkling? In any event, Dear Ignorant Woman of 76th Street, my son has Phelan McDermid syndrome. He wakes at 5 am every morning. Walking is one of the few activities we mutually enjoy together for a sustained amount of time. Your judging eyes and condescending sighs are uncalled for and I cannot believe I didn't question you!? I was in shock.

In an effort to help wash away this ignorance, please do an act of kindness today.

 

Medical Marijuana

We are once again considering medical marijuana for our 4 year old.  I imagine to some, this might seem crazy - but then again, giving a 4 year old an anti-psychotic drug like Risperdal seems crazy as well, right?  Decisions I never dreamed I, as a mother, would have to make. 


Challenges at School

I got a call form Darus' school last night asking if I could meet with them this morning.  In brief ... the meeting was very difficult and kind of even crushing.  The teachers and staff are really struggling with Darus and his behaviors and trying to keep him present and engaged.  Apparently they are seeing aggressive behavior and they are concerned about him hurting other kids and the staff.  It was so tough to hear ... but, they were very kind, nice and gentle with their delivery ... and, I really do truly believe they CARE and they want what's best for Darus.  For that, I have to be grateful and thankful.  Below is the email I sent to the directors recapping our meeting. 

Thank you both, very much, for having the meeting with me this morning.  It was very tough for me to hear what you had to say, but I did hear you loud and clear.  And I'm so thankful that you shared with me and I'm so thankful that you're willing/wanting to be our parenting partners.  Jonas and I feel like we've won the lottery by having Darus at your school.  We really feel like it's an incredible opportunity for him and we're so thankful that a place like your school exists.  Thank you.

I spoke w/ Darus' psychiatrist this morning already and she has a prescription for Intuniv called into the pharmacy.  I will pick it up this afternoon and we will start it tomorrow AM.  She said the first week of it, he will likely be a bit tired/lethargic, but it should even out thereafter.  She said if we don't see improvement within a few weeks, she'd like to talk to us once again about Abilify and/or Risperdal.

In addition to the medication, we are committed to helping our Darus in any way possible.  I agree with you that swimming could be really beneficial and we will do what we can to get him in the pool on a more regular basis.

I am also grateful that you devised a plan to help support him at school.  I'm hoping that with him being with 'larger' sized peers, this might help him feel like more of a match than a misfit.

Last, but not least, we are going to do our best to make sure that any/all dairy is eradicated from his diet.  Also, I checked his probiotics.  They are casein and dairy free.

Thanks again, very much, for your kindness this morning.  I'm really glad we had an opportunity to meet and talk and I am so thankful Darus is in such a caring and mindful environment!

With love & gratitude,
Abby

Giving Thanks

Every year since I've known my husband, Thanksgiving has always been a day to celebrate our family & friends.  Even after the death of our daughter in 2009, we forged forward and 'gave thanks'.  This year is going to be something different.  Although we do, indeed, have a lot to be thankful for, we are also saddled with the responsibility of being special needs' parents.  Reality was dealt to us at the end of September when we received Darus' dx.  Yes, of course we still have hope, but the likelihood of our child ever having an independent life, is very slim.  This year we've decided to finally take our sister up on her offer to take us to Disneyland!  We spent the morning at The Happiest Place on Earth -- and spent the afternoon cooking and the evening eating.  It was a different type of Thanksgiving - but it was ours - so it was special.



Whole Exome Sequencing

We owe a tremendous amount of gratitude to the scientists that pioneered and developed Whole Exome Sequencing (WES).  Because of this cutting edge genetic test, we finally have a proper dx for our Darus.  It was not easy for us to get the test.

We requested pre-authorization from our private insurance company - but we were repeatedly denied.  We wasted 18 months before our geneticist asked, "do you have MediCal?"  She said that the test will be covered under Medi-Cal.

Unfortunately, I think a lot of kids that are dx'd w/ autism could have some underlying genetic anomaly that we just don't know about ... until WES is administered.  I urge any and all parents/caregivers that have a child with challenges/disabilities to push for this test.

Darus developed nearly inline with his peers the first 18 - 24 months of his life ... but around 18 months, when he had next to no words, I started to be concerned.  The pediatrician and others close to me felt like "he's fine" ... "he'll develop on his own timeline" ... etc.... I agreed with them.  By 2 years though, when there was really no improvement, that's when early intervention through the Westside Regional Center started and it's been a marathon since then.  (We now have a new pediatrician, Dr. H, who has been wonderful and very instrumental in referring us to all of the right people!)  I never really felt like autism fit Darus, but I accepted the dx because it meant getting the services that he so desperately needed.  Alas, I'm so thankful that I pushed forward to get the WES done.  Sure, it's been a tough pill to swallow, but overall, a complete godsend.  It has absolutely helped us to understand Darus so much better.  It's helped me to be more patient with him and it has changed our course of treatment.  For now, we've opted to leave the traditional autism treatment route that consisted of ABA & social skill therapies.  We are currently following the Stanley Greenspan DIR Floortime method/approach.  We have been more relaxed about potty training - knowing/believing that Darus will get there, when he's ready.  We've also relaxed our expensive & exhaustive speech therapy struggle and will eventually be phasing in an AAC device.  Overall, we have learned to be present with him, at whatever stage he is at, and I've been so thankful to finally have some understanding.

And, perhaps one of the major benefits of having the dx is that I've been able to connect with others who have been affected by PMS and I've been warmly welcomed into a community that I never wanted to be a part of but cannot imagine myself in any other place.  I now have a clear direction of where I'm going and where we should direct our research & resources.  I believe our collective perseverance and tenacity will ultimately help us advance science and find a cure.  Thanks to WES, we have a diagnosis, and it has given us friendship, understanding, direction and hope. 

Pro Au Pair

Today, for the first time, I heard about an interesting service - Pro Au Pair.  It's similar to a traditional au pair agency with the exception that all the au pairs that they place have experience in dealing w/ special needs kiddos and/or a special needs-focused degree.

From their website:

"We are dedicated to sourcing, screening and placing experienced professional au pairs with special needs families.  Securing the very best childcare for your children can be difficult. With your family’s needs in mind, we have developed a program that makes finding and selecting the perfect special needs qualified au pair easy and enjoyable for you.  If any of your children have conditions such as Epilepsy, Autism, Asperger’s Syndrome, Down Syndrome, speech delays, ADD, ADHD, and/or other conditions requiring special attention, then this program may be exactly what you are looking for.  PROaupair’s Special Needs Au Pair (SNAP℠) program features professional au pairs who have at least one year of full-time professional experience working with special needs children and/or a degree in Occupational Therapy, Physical Therapy, Speech Therapy, Special Education or other special needs-focused degrees from their home country."

 

 

 

24-Hour EEG

We had our first 24-hour EEG today.  We checked into UCLA Ronald Reagan - Mattel Children's Hospital - at 1:30 this afternoon.  Our room wasn't quite ready, so we got to play on their playground for a bit.  Once we finally got into our room, it was pretty non-stop.  A revolving door of nurses, EEG techs, doctors, residents etc.  There were two techs applying the leads to Darus' head and I had to lay on top of him for the entire time to keep him from pulling at the leads, all the while attempting to keep him still.  A resident neurologist got to hold the iPad, as Darus watched not 1, but 2 episodes of Dora.  Once all of the leads were placed, they wrapped his head up in guaze -- which didn't last long.  Darus was pulling on it and wanted to quickly get out of there!

For a brief moment, I was ready to throw in the towel and admit defeat.

But I knew if we left now, we'd have to come back sooner or later for the test.  I had to reach deep down inside of myself and find my calm, patience and respect.  I knew I had to use these tools to help Darus understand the importance of why he needed to stay on the bed and leave his head alone.

It worked!!

As the tech came back in to re-wrap his head, I explained to Darus that I knew he wanted to leave.  I knew he didn't want this stuff on his head.  But we had to finish the test.  I told him it was okay to be sad and to cry and to not want to be there.  I believe he understood me.  From 5 until about 6, he was whimpering most of the time, but stayed pretty happy -- and still -- with his iPad.  Then Daddy arrived and Darus was very happy to see Jonas!  He finally fell asleep - mid spelling game - at 7:50.  I slept in the hospital bed with him until he woke at 5 AM.  The leads were removed around 8 AM and we were finally discharged just before 10 AM.  The preliminary reading of the results showed no abnormal brain activity.  I wasn't terribly surprised, as I had not noticed any seizures, but thankful we had the opportunity to have the test.  And, if nothing else, at least we have a baseline and peace of mind.  The hospital staff, doctors & nurses were all amazing!  Thank you, Mattel Children's Hospital at UCLA Ronald Reagan!




Seaver Autism Center at Mount Sinai Medical School in NYC

I received a phonecall today that Darus is being considered for a longitudinal (3 - 5 year) Phelan-McDermid study through the Seaver Autism Center at Mount Sinai Medical School in the Big Apple!  Needless to say, this is quite exciting.  It would be wonderful to have doctors at the forefront of this syndrome all involved in helping us provide the best care for our Darus, to help him reach his fullest potential.  The Seaver Center is not only studying Phelan-McDermid Syndrome, but also specifically looking at SHANK3 mutations, which Darus presents with.