Pitt-Hopkins Syndrome

The rare genetic condition community is really something special.  It's the community that most don't volunteer to be a part of, but once you're there, you can grow to find the beauty and simplicity that doesn't exist elsewhere.  I am very eager to attend the Global Genes Summit in Orange County this September to meet even more people, doctors and researchers that are fighting hard to find better therapies/cures for our children that are affected by rare conditions.  

Recently, in one of my online parent support groups, I saw a few questions from a mom that echoed questions I had.  I was curious as to what condition her child had and discovered it to be Pitt-Hopkins Syndrome.  Unsurprisingly, I had never heard about it.  I read about it.  First at wiki then on the Pitt Hopkins Research Foundation website.   

I was surprised by how many similarities there are between PTHS & PMS.  Although PTHS is chromosome 18 and TCF4 (gene) and PMS is chromosome 22 and SHANK3, there were still quite a few commonalities.  

I was then brought back to my own childhood and vaguely remembered reading the story of Peter Pan - the boy that never grew up - and learned that it's believed that Peter Pan had Pitt-Hopkins!  (In addition to there being a wiki page detailing this, it's also talked about on the PTHSRF page.)  As written on the PTHSRF page, "Peter Pan is remembered as the boy who never grew up…a boy who captured the hearts of the young and the old through his magical ways.  The story of Peter Pan helps us find some blessings in the pain.  Peter Pan, we think, would’ve been very proud of our Pitt Hopkins children. Just as we are."

 

#careaboutrare #globalgenes #pitthopkins #phelanmcdermidsyndrome 

 

Stanford Research Study

It’s been nearly two years since Darus was diagnosed with Phelan McDermid Syndrome.  The last two years have not been easy, but we’ve had no choice but to keep pushing forward.  At times it feels like we’re stuck in survival mode, but there are also times of unbridled joy and living in the present moment.  We have learned so much from Darus, yet we have a long way to go! 

We were afforded a wonderful opportunity this past weekend to participate in a research study that will hopefully help improve the lives of families like ours that are affected by this condition.  We took the scenic route to and from Stanford and made many stops along the way as you'll see in the photos.  We met w/ geneticist Dr. Jon Bernstein and psychologist Dr. Jennifer Phillips.  Thank you to everyone, near and far that made this possible. 

I would also like to take this time to encourage any Amazon users to please register your account to support the Phelan McDermid Syndrome Foundation.  Thank you for your support.

With love & gratitude,
Abby

‪#‎stanford‬ ‪#‎phelanmcdermidsyndrome‬ ‪#‎shank3‬ ‪#‎autism‬

Grieving for a Child I haven't Lost

Original post can be found here on the author's blog.  Generously shared below with Ms. Miriam Gywnne's permission and blessing.  Originally published on 8/17/2015.

 

As I sat on the bench in a public park the tears came easily. Watching little toddlers peddling trikes and mothers chatting to babies. Seeing pre-school children laughing and chatting as they wheeled around the water on their brightly coloured scooters.

It has been building for a while.

The night before last it was anger and hurt as a friend shared how her 14 month old was defiantly talking back when they were trying to get her to bed. I wanted to scream and say ‘but she understands! But she talks!’ Instead I mourned silently.

The world goes on while I grieve for a child I haven’t lost.

It is a very different pain to others. I know the pain of not having children. I know the pain of losing a yet-to-be-born baby. I know the pain of losing someone very close. I know that feeling of despair and anger and hopelessness. People understand when they know you have loved and lost.

But how do you explain you are grieving a child you have not lost?

I get to read to my son. I get to bathe him and dress him and kiss him. I hear him laugh when I tickle him and get to push him on the swings at the park. He goes to school. He will watch a video sometimes. And yet he is lost.

I have yet to hear his voice. I grieve for the conversations we will never have. I grieve the fact I will never hear him sing or shout or chat with friends like those little ones in the park. I grieve for the fact I will never hear him tell me a joke or talk to me about his day at school. I grieve for the loss of never hearing him whisper ‘I love you’. I can only dream about what his little voice may sound like, how it might have grown in depth and tone as he aged, what sort of accent he may have had or how he would pronounce names of people he knew. A part of him will never be. And I feel the loss and pain of that.

I grieve for all the milestones I have missed and may never have with him. As I watched a mum bend down to hold her son’s hand today to help him walk I thought about how much she takes for granted. Her little one was not much over a year old and yet he confidently held her hand to take some steps. By the time my child did anything like this he was tall enough that I had no need to bend and his hands were nothing like as tiny as her son’s. I have skipped the toilet training, the bike riding, the learning to read and write, the school plays, the attending clubs and the having friends. I have been robbed of things others take for granted and that should be part of normal childhood. There is a loss and a sadness for times that might have been but will never be.

There is sadness that I can not walk him to school or that he can not go to school with his twin sister. There is pain relying on others to tell me about his day when I should hear it from him. There is heartbreak watching the neighbours child of the same age jump on a trampoline and my son can not balance on one leg let alone jump. There is a lump in my throat when people ask what my child wants for Christmas and he still plays with baby toys at almost seven. We have never experienced the tooth fairy with him, he has no concept of Santa Claws and neither chooses his own clothes nor has the ability to dress himself. He has never said ‘mummy can I have’ or gone in a strop because he can not go out to play. He has no friends his own age and doesn’t get invited to parties.

He is here but to many he isn’t.

I have a son. He is my pride and joy. I am so proud of everything he does. But I still grieve for him, for the things he will never achieve and the experiences he will never have. And I grieve for myself as a parent when I see a world of parenting I can only ever dream about.

As I sat on a bench in a public park the tears came easily; tears of heartache and anger, tears of frustration and pain.

It is all part of the journey. Before I can move on I need to grieve for the loss. And grieving takes time.

So please forgive me and support me. Life goes on and I understand that. I have no bitterness at that.

But sometimes those tears are needed. Bear with me as I grieve for a child I haven’t lost.

Why Genetic Testing? Why Not?!

Many of you already know of our experience - but for those that don't -- if you're struggling with your special needs' child in any way -- I cannot urge you enough to work with a geneticist in completing Whole Exome Sequencing (WES) trio.

Fighting for WES was one of the toughest battles I've ever fought. Not only because I had to sift through 3 denial and appeal processes w/ our private health insurance (MPI PPO), but it was an internal emotional battle as well.  It was very difficult to fight for something that I really didn’t want the answer to.  It was additionally difficult because I knew there was a possibility that this test, too, could come back inconclusive, just like our chromosome microarray (CMA) did. … But, I pushed forward.  And I got it done, with much thanks to UCLA Geneticist Barbara Crandall and the Great Golden State (Medi-Cal).  The results were a hard pill to swallow.  They confirmed that my child is genetically challenged.  In addition to his autism, we learned that he has a tiny mutation of his SHANK3 gene, also known as Phelan McDermid Syndrome.

But, my friends, at the same time, so many questions were answered.  I learned so much about my son and I now have a specific community of people that truly understand our situation. Just like an ‘autism support group’ can help – I now have an even more specific support group to turn to.  But most of all, the dx has given me HOPE.  It's given me a purpose that's much greater and broader than helping Darus alone.  I’ve learned and accepted that I cannot do it alone.  I’m just one person. I need to work with as many people as possible to raise awareness, advocate, research, show gratitude, get involved in studies and do my part to figure out how to help him and all the others that are affected by rare genetic conditions.  Last, but certainly not least, I've started to appreciate Darus for who he is and what he can do.  For the most part, I’ve stopped dwelling on what he cannot do.  I've resigned myself to accept our reality instead of desperately trying to change it.  I am more at peace with myself.

I beg for everyone to find the solace that I’ve found via WES. I am here for anyone that wants help and/or needs support to obtain this testing for their child.

Garbage Trucks!

Darus loves garbage trucks.  I imagine it has something to do with their size and the noise they make.  Every Monday morning he gets very excited when we remind him it’s garbage day.  No matter where he is or what he’s doing, when he hears the hum of the garbage truck approaching our street, he will run to a window.  I typically try to have everything ready for us to leave for the day so that we can go outside and watch the truck go all around our cul-de-sac.  His little heart often feels like it’s going to beat out of his chest and his feet couldn’t be happier! 

The County of Los Angeles has Sanitation Open House days at all 6 of their locations/storage yards.  We hit the first of the season today.  It was like garbage nirvana for Darus.  He was so impeccably well behaved!  He held Daddy’s hand nearly the entire time.  When it came time to wait in line to go into the trucks, he waited perfectly!  Last year, when we took him, he was a bit timid and afraid of being so close to the trucks and when it was his turn to sit it one, he cried and didn’t want to do it.  Jonas had to climb in first and then I put him on his lamp.  This year was different.  Darus watched as the children in front of him each took their turn, and when it was his turn, he proudly climbed up into the truck.  It was really neat to see his progress!

One down, five to go!

Basketball Darus

Darus has gotten back into basketball, which is great yet interesting at the same time.  Last summer, he really loved it - and he was good at it.  Over the winter, his interest waned, but it seems to have sparked again.  It is somewhat troubling, though, to see that that he seems to have lost the skill that he once had, but I'm glad to see him interested in it again.  We played yesterday, but only for a short while, as after a few failed attempts at a shot, he took off running down the street.  Unfortunately, he is quite the eloper.  Thankfully we live on a cul de sac, but it is still a concerning behavior.  He really has trouble attending to any task - even if it's preferred - for any duration of time.

Wuana's Car

While out on our walk this morning, we walked by this car.  Darus astutely pointed at the car and announced, "Wuana's car!".  I was impressed with his recognition!  Even though this wasn't Luana's car, it's the same type/model, and he knew it.  

Potter the Kitty

Darus loves spotting kitty cats throughout the neighborhood on our walks.  There is one kitty in particular, Potter, that lives about half a mile from us that Darus especially loves!  In addition to loving the kitty, I think he also just loves Potter's yard/house.  He gets so excited whenever we get in the car - hoping that there's a chance we'll drive by Potter's house.  I indulged him this morning on the way to school.  Even though we usually don't drive by Potter's house in the morning, we did today, and boy was he happy.  Can you spot Potter? 

 

 

PMS Bites

Darus' behaviors are getting tougher to manage as he grows bigger and stronger.  He's typically a very happy boy, but at times, when he doesn't get what he wants, he will act out.  It usually involves him dropping his 60 pound body to the ground.  This gets old, really quick.  He knows exactly what he's doing when he does it, too.  It's hard to ignore.  His other attention grabbing tool is biting.  This sucks even more than the dropping to the ground.  He got me good today at Home Depot.