Give Big Live Event Interview

The above is an interview of me with the executive director of the Dup15q Alliance on the 5th Big Give Fundraising event to raise funds for the LADDER  (Linking Angelman and Dup15q Data for Expanded Research ) project, which is a stored database of Dup15q individuals that helps scientists and pharmaceutical companies access information for drug development and research.  The greater the depth of information stored in the LADDER database, the easier it is for potential researchers to tap into and become interested in pursuing Dup15q Syndrome as a research project or a marketable candidate for drug development.  

We need answers.  I remember the excitement I had when I got an answer for one of Lucas behaviors.  There was a Japanese research group who were successful with carrying out behavior experiments with Dup15q transgenic mice and in one setting, the mice were placed in a maze and their behaviors recorded.  The mice did not roam around the maze to look for food or stimulation but rather stayed clustered to one corner of the maze.  The researchers concluded that the mice hesitated to explore due to high anxiety.  Lucas behaves exactly like these transgenic mice when placed in a large indoor playground, I'd pay an admission fee for him to explore the whole area with swings, slides, jumpers but he would only stay within a mere 8'x8' area and seem perfectly content to just walk within its perimeter.  I always wondered why he never explored further but the research paper concludes it is due to high anxiety.  I would agree that the anxiety comes from not being able to decipher his environment properly.  In fact, I would also add to the scientists conclusion that poor vision or a poor visual processing ability adds to the anxiety.  If I were blind or see the world as a jumbled kaleidoscope of colors and shapes, I'd be hesitant to walk around myself.  

I am realizing, as I alluded to in my interview, that the knowledge and treatment strategies Lucas and our family get privy to is all thanks to the work that was done before we even arrived on the Dup15q scene by families that never gave up and pursued answers to some of the mysteries surrounding the syndrome.  What families do today will help people that join in the future perhaps even more so than us right now.  I am so grateful and feel fortunate that one, we have a diagnosis.  There are many people in the rare disease community who don't even have that!  It can be a very frustrating and scary place to be in the unknown.  I remember a 34 year old intellectually disabled lady at church who still does not have a diagnosis even after genetic screenings.  Secondly, I am grateful for the Alliance.  The Give Big Fundraiser prefaced their event with the quote that this syndrome doesn't come with a manual but only with a family that never gives up.  But for me, the Alliance has been my manual with answers to any questions I have be it seizures, therapies, drugs, special needs laws. etc... It is a go-to first line of reference I use for any questions I have and if I want to explore a topic further, I venture into the University of Google to take a deeper dive into it. 

There are so many questions yet to be answered.  Why do some individuals suffer severe seizures and other not?  Why do some experience severe behavior and anxiety issues while others don't?  Aside from the same duplicated region of the chromosome, do epigenetic factors play a more crucial role in determining the severity of symptoms?  The urgency of deeper research can't be minimized because individuals and families are suffering and some are even dying.  

I am reminded of the Pulitzer Price winning author, Pearl S. Buck's daughter who suffered intellectual disability due to a metabolic condition called PKU.  She had a genetic condition which disabled the metabolism of one amino acid, phenylalaine, leading  her to live her days in a care home for the rest of her life.  Pearl S. Buck once admitted in an interview that the motive for writing The Good Earth was so that she could insure funds for the care of her intellectually disabled daughter after her own passing.  She accomlished that and so much more by becoming a world renowned author and ensuring her daughter was well taken care of (into her seventies!) in a group home.  After her daughter's death, scientists discovered that by eliminating one amino acid from the diet, the syndrome was cured.  Today, the condition is 100% curable by diet modification.  How wonderful would it be if Dup15q Syndrome was so easily cured!  Who knows?  It may be cured by adding one supplement or eliminating one metabolic factor!  These are among many hypothesis and experiments that need to be explored.  With this in mind, the Lucas T. Ahn Family Scholarship aims to inspire budding young scientists to get a taste of a research milieu in hopes they will consider working to better elucidate Dup15q Syndrome as their profession.  Who knows?  Maybe they will be the future scientific advisory board members for the Alliance.  Currently, there is a handful of advisors but imagine what 50, 60 or even 100 scientific advisory board members would look like!  100 researchers all working to solve the riddle of Dup15q Syndrome!   That would be super exciting! 

JiYoung on Sesame Street

If you asked me when I was 7 years old that one day there will be a Sesame Street character by the name of JiYoung, I would have responded, "when dockeys fly!"  Here we are at 2022 with a Sesame Street character by the name of JiYoung!

whoopi Goldberg      https://fb.watch/cVF3b2ITEY/

 

Spring Break 2022 & Vist with Uncle Mik

 

The Egg by Andy Weir

 

The Egg by Andy Weir

You were on your way home when you died.

It was a car accident. Nothing particularly remarkable, but fatal nonetheless. You left behind a wife and two children. It was a painless death. The EMTs tried their best to save you, but to no avail. Your body was so utterly shattered you were better off, trust me.

And that’s when you met me.

“What… what happened?” You asked. “Where am I?”

“There was a… a truck and it was skidding…”

“Yup,” I said.

“I… I died?”

“Yup. But don’t feel bad about it. Everyone dies,” I said.

You looked around. There was nothingness. Just you and me. “What is this place?” You asked. “Is this the afterlife?”

“More or less,” I said.

“Are you god?” You asked.

“Yup,” I replied. “I’m God.”

“My kids… my wife,” you said.

“What about them?”

“Will they be all right?”

“That’s what I like to see,” I said. “You just died and your main concern is for your family. That’s good stuff right there.”

You looked at me with fascination. To you, I didn’t look like God. I just looked like some man. Or possibly a woman. Some vague authority figure, maybe. More of a grammar school teacher than the almighty.

“Don’t worry,” I said. “They’ll be fine. Your kids will remember you as perfect in every way. They didn’t have time to grow contempt for you. Your wife will cry on the outside, but will be secretly relieved. To be fair, your marriage was falling apart. If it’s any consolation, she’ll feel very guilty for feeling relieved.”

“Oh,” you said. “So what happens now? Do I go to heaven or hell or something?”

“Neither,” I said. “You’ll be reincarnated.”

“Ah,” you said. “So the Hindus were right,”

“All religions are right in their own way,” I said. “Walk with me.”

You followed along as we strode through the void. “Where are we going?”

“Nowhere in particular,” I said. “It’s just nice to walk while we talk.”

“So what’s the point, then?” You asked. “When I get reborn, I’ll just be a blank slate, right? A baby. So all my experiences and everything I did in this life won’t matter.”

“Not so!” I said. “You have within you all the knowledge and experiences of all your past lives. You just don’t remember them right now.”

I stopped walking and took you by the shoulders. “Your soul is more magnificent, beautiful, and gigantic than you can possibly imagine. A human mind can only contain a tiny fraction of what you are. It’s like sticking your finger in a glass of water to see if it’s hot or cold. You put a tiny part of yourself into the vessel, and when you bring it back out, you’ve gained all the experiences it had.

“You’ve been in a human for the last 48 years, so you haven’t stretched out yet and felt the rest of your immense consciousness. If we hung out here for long enough, you’d start remembering everything. But there’s no point to doing that between each life.”

“How many times have I been reincarnated, then?”

“Oh lots. Lots and lots. And into lots of different lives.” I said. “This time around, you’ll be a Chinese peasant girl in 540 AD.”

“Wait, what?” You stammered. “You’re sending me back in time?”

“Well, I guess technically. Time, as you know it, only exists in your universe. Things are different where I come from.”

“Where you come from?” You said.

“Oh sure,” I explained “I come from somewhere. Somewhere else. And there are others like me. I know you’ll want to know what it’s like there, but honestly you wouldn’t understand.”

“Oh,” you said, a little let down. “But wait. If I get reincarnated to other places in time, I could have interacted with myself at some point.”

“Sure. Happens all the time. And with both lives only aware of their own lifespan you don’t even know it’s happening.”

“So what’s the point of it all?”

“Seriously?” I asked. “Seriously? You’re asking me for the meaning of life? Isn’t that a little stereotypical?”

“Well it’s a reasonable question,” you persisted.

I looked you in the eye. “The meaning of life, the reason I made this whole universe, is for you to mature.”

“You mean mankind? You want us to mature?”

“No, just you. I made this whole universe for you. With each new life you grow and mature and become a larger and greater intellect.”

“Just me? What about everyone else?”

“There is no one else,” I said. “In this universe, there’s just you and me.”

You stared blankly at me. “But all the people on earth…”

“All you. Different incarnations of you.”

“Wait. I’m everyone!?”

“Now you’re getting it,” I said, with a congratulatory slap on the back.

“I’m every human being who ever lived?”

“Or who will ever live, yes.”

“I’m Abraham Lincoln?”

“And you’re John Wilkes Booth, too,” I added.

“I’m Hitler?” You said, appalled.

“And you’re the millions he killed.”

“I’m Jesus?”

“And you’re everyone who followed him.”

You fell silent.

“Every time you victimized someone,” I said, “you were victimizing yourself. Every act of kindness you’ve done, you’ve done to yourself. Every happy and sad moment ever experienced by any human was, or will be, experienced by you.”

You thought for a long time.

“Why?” You asked me. “Why do all this?”

“Because someday, you will become like me. Because that’s what you are. You’re one of my kind. You’re my child.”

“Whoa,” you said, incredulous. “You mean I’m a god?”

“No. Not yet. You’re a fetus. You’re still growing. Once you’ve lived every human life throughout all time, you will have grown enough to be born.”

“So the whole universe,” you said, “it’s just…”

“An egg,” I answered. “Now it’s time for you to move on to your next life.”

And I sent you on your way.

The Bad, the Ugly and All That Poop!

It must feel awfully uncomfortable to have to wear diapers all the time, especially on hot days when one is already sweaty and bothered.  At one point, L would urinate on demand but we got lax with the therapy once a new baby arrived and now even with the timer on every hour, it is hard to get him to use the toilet.  Every time we have him stand by the toilet, I find his pull up is already wet.  He is at home a lot these days as there are new cases of kids with Covid he has been exposed to at school.  I'm taking advantage of this time with him home to see if I can get him to use the toilet on demand again but it is getting harder to do than when he was younger.  At one point, we would immediately take him to the toilet after getting up in the morning and he would urinate.  I'm really close to giving up trying but then I remember a recent incident with the poop and I get even more determined to have him trained.  

I'd like to spare the full detail of what happened as I feel it would be disrespectful to him (in fact, I hesitated to write this whole blog entry for that same reason but misery loves company and it may help someone feel less alone going through this), but I remember cleaning poop from everywhere - the rugs, carpet, hardwood floor, banisters... as he ran around the house full of glee and joy!  I thought he was having a great time and was proud he was able to entertain himself while I was busy in the kitchen only later to find he was having a poop fest!  I almost felt as if he knew what he was doing was naughty and was gleefully doing it anyway knowing it would make me loose it.  I'll never forget that feeling of utter defeat, anger, sadness as I lashed out at Gabriel and the kids.  Before I could even begin to clean, I had to step out of the house to cool myself down and give myself a little pity party.  Later, that day, I wondered if I overreacted and felt a bit of guilt but then my better sense got a hold of me and I clearly heard, "no, you did not overreact.  What is the appropriate response to finding poop smeared all over your house, anyway? "  I'm going to believe it was an angel that whispered those words to me.  So, I decided to give myself some grace and move on.  And, I decided to have L wear onesie pajamas when he is home and I can't watch him like a hawk all the time.  

It has been helpful that I'm used to cleaning poop as a nursing professional.  I'm also actually grateful for having a really tough childhood (I never thought I'd live to say those words!) but it has made me more resilient and able to emotionally better navigate through tough situations like that shitty day.  It would have been much more emotionally difficult for me had I never cleaned adult diapers or never had to live through very tough situations early on and I wonder how other moms with no exposure to both are able to cope with such situations. I still have bad days but I reason, if I've lived through so much "shit" already, I could live through this incident.  That is always my rationale for getting through everything in life! 

A much more worrisome concern I have though is who would love my boy as he is?  Will the world make some room for him to belong and be loved when I am gone?  When even his own mother can lose her shit, will others be more patient?  

 

Sliding into 2022!

Can you believe it's already 2022 and the world hasn't come to a complete standstill?  

Here I am sliding into 2022 and hoping the year gets better than this unsuccessful ride.  

Here is Luki and Tae sliding into 2022, Dup15q style!   

Christmas 2021