#ItsJustSocks

I felt the need to change the title of the blog to #ItsJustSocks (I crack myself up) Also in honor of this blog, Mari added a raffle to her crowdrise goal Mari's Mudder-39 Reasons. 

crowdrise.com/o/en/campaign/39-reasons1/marielainagarcia

Jonah and I are spending the entire month of July in Oregon. If you’re thinking it’s a good opportunity to bust into our place, you should know we don’t even have a tv to steal.

We have to make it to San Diego the day after Jonah’s B.day for the International MPS society meeting. When I was booking our trip to OR-JFK & JFK-SD I realized what a waist of time and money to fly to the west coast twice in one month. I had already been thinking about Jonah’s 10th Bday on the 30th and what it was we were going to do. Jonah doesn’t have any besties. The intellectual gap between Jonah and children his age is too large to ignore for most children.

The last playdate we had with a boy Jonah’s age was heartbreaking. Our guest told me that Jonah was annoying him and he wanted to go home. The playground is really hard for me. It’s tough watching him attempt to verbally interact with kids his age.

The playground. The worst time to go to the playground is before ten o’clock. That’s when the new parents are there with their toddlers. Now that we don’t have a t.v. Jonah starts asking to go to the playground right after breakfast. Since Jeremy has been on hiatus he has been on playground duty. This particular Saturday morning Jeremy was slow to rise, Jonah was already in his non-stop repetitive state: “Can we go to the playground?” “ “Can we go to the playground?” “ “Can we go to the playground?”   “Can we go to the playground?” “ “Can we go to the playground?” “  “Can we go to the playground?” ““Can we go to the playground?” “


To save myself from the repetition I took him. I wore my printed ‘fuck off’ gym sox. The playground was already peppered with at least 15 toddlers at various stages of growth. They’re mommies and daddies, huddled around in little puddles, some had a new baby hanging from their chests snuggled in it’s Baby Bjorn. I felt guilty and rolled down my fuck off sox.

Jonah surveyed the situation, looking for kids that could run and play tag with him. He settled on two boys probably six or pushing seven years old. The boys were tied at the hip, Jonah was an outsider, he had to work hard at breaking the ice and into their activities. Persistence, Jonah is good at that, he got them to play tag with him. When the other boys tired and ran back to their mothers Jonah followed. I sat across the playground from one of the mothers, never saw the other mom.

Like a bird watcher, I kept my distance and just watched the interaction. Jonah sat next to the mom, he didn’t sit right next to her, he perched himself up on the back of the bench, so his feet were next to her. He sat there and watched the boys play, he talked to her. I have no idea what Jonah said, he says random things to break the ice. He probably told her that we got new fish or that he was going to go see his grandma tomorrow.

I could see that things were going south for Jonah, the boys kept running away from him and huddled together. I went to check in. The boys didn’t want to play tag with Jonah anymore; Jonah was irked with them. The boys didn’t understand why Jonah couldn’t switch gears and play something else. I tried to get Jonah to go home. Instead he came and sat with me for awhile, after he regrouped he ran out to play with the boys again. A bit of time passed and one of the kids came up to me and said: “Your son told my friend Dustin that he was stupid.”

Really? I questioned the kid, I didn’t think the kid was lying. My heart leaped, that’s great I thought Jonah used stupid in the right context. I have heard Jonah say stupid once or twice in his lifetime. I placated the kid with all the things a mother is supposed to say at these times. A few minutes later Dustin’s mom paid me a visit. She echoed the same thing as Dustin’s BFF and added: “I’m trying to teach Dustin to stand-up for himself.”

I stared at her, trying not to laugh, and wishing I had not rolled down my fuck off sox. Seriously, was she standing here telling me that she’s trying to get her son to stand up for himself and to fight his own battles?

I thought for a second, maybe Dustin was special needs too? Why else be so offended that Jonah called Dustin stupid? I’m assuming the reason why Jonah was able to use stupid in the correct context is because he gets called stupid by a peer on a daily basis. Imagine that lady.

Again I said the things a  mom is supposed to say in this situation. It’s just polite playground politics, I know it can happen to anybody. Jonah came over and sat down. He wasn’t in the least bit interested in telling Dustin that he was sorry. Jonah was obtuse, he figured he was in the right. I leaned back so that Jonah couldn’t hear me and I said to the mom: ”Jonah has brain damage, he doesn’t know how to act when someone else is mad at him. He doesn’t have that level of social skills.”

Her response: “I guess there is something to be said for having brain damage, your feelings don’t get hurt.”

Pin that for a second. Here is this mom coming over to tell me that my son called her son stupid. I had hoped that the women was astute enough to realize that Jonah was special needs when he sat by her and talked to her. I purposely put an MPS awareness t-shirt on Jonah that morning, for this exact situation. I couldn't get him to wear his hearing aides.

I played out like I cared and reprimanded Jonah, Jonah mumbled I’m sorry and gave Dustin a half-assed wave. The mom stood and stared at Jonah, contemplating. Jonah was expressionless, picking his nails, staring across the playground. Probably thinking who else is here that I can play with. I couldn’t tell if she thought Jonah was evil or if she just couldn’t believe that this normal looking kid had brain damage. Maybe it occurred to her that she had just stuck her foot in her mouth. They left.

If Jonah ever hit another child or ripped something out of his hand in aggression, I’d  take it seriously and deal with it accordingly. So Jonah called the kid stupid, it’s not like he told him to fuck off. Did she ever stop to think why Jonah might have called her child stupid? Maybe her sensitive son, hurt Jonah’s feelings?

When Jonah is at the playground he is the happiest. His smile radiates his laughter bounces around the playground, that glee is what gets Jeremy and I through the worst of times.
Jonah doesn’t get invited to Birthday parties anymore, not that kids don’t like him, they just don’t have much in common. I don’t think he notices if he does he gets over it fast. He loves his Bday parties almost as much as he loves the playground. I’m relieved that we will be spending his Bday in Oregon with family.

Family.  We have two families, a biological family and our MPS family. It is very rare to meet someone not in the Sanfilippo tribe that understands what it’s like to know your child is going to die before you. You want to be with those people the same way you want to be with your own family. 

I’m sure it’s the same for any type of thing that makes you feel different in some way.

Suicide is another tribe that you don’t want to belong to if you can help it. On Fathers Day I attended a ‘celebration of life memorial’ for a man from my neighborhood. I didn’t know Muli well, but I had gotten to know his wife over the years and I adore her. Muli left behind two little girls around Jonah’s age, they went to the same school.

As a daughter of a man that also committed suicide, I thought fathers day was the perfect day to have a celebration of life party. A mom and two young daughters surrounded by their cousins and friends and adults that all loved and honored their dad. The guests gave tributes, those from far away recorded tributes in Hebrew. A performer danced out one of Muli’s musical pieces, singing, laughs and tears. The kids ran around the ballroom as quietly as they could. Two barely one year old babies sat on the floor next to me. I watched them while Muli’s guests paid tribute in Hebrew, little weeble-wobble’s pushing colorful wood circles and squares around coated wire. So excited they drooled. I wanted to stick a straw in one of them and suck my way back to the beginning of life.

The party was held in the ballroom at Muli and Zippi’s temple. They were both raised in Israel, I recon that makes their daughter’s first generation Americans. I was surprised that there were not as many parents from my neighborhood in attendance. At his services (held two days after Muli’s death) the temple was packed with our close neighbors and school parents. I admit when the ballroom filled up and I realized I was one of three people that were not Jewish, I thought that maybe I wasn’t supposed to be there. My insecurities were on me, my attendance was accepted and appreciated. One of the organizers of the celebration assumed it was because it was fathers day in America. I’m not so sure of that. I’m oblivious to religious and cultural differences, I guess there is something to be said about being stupid.

So don’t laugh at me. I belong to a facebook and IM group for those that play PokemonGo in my hood. I got into the game because of Mission Hide and Help. I stuck with it because it’s fun. I like collecting the ‘virtual’ characters. It’s like any other collection, except this collection doesn’t sit on your windowsill collecting dust. My neighborhood Pokemon group sends out instant messages for a time and place to meet for a ‘raid’. People that can make it respond yes or no. This group is mostly made up of young adults from all different cultures, from China to Columbia and all spots between. When I show up to the meeting spot my fellow PokemonGo friends scoot on down the curb to make room for me. I’m thankful that they welcomed this old white lady into their tribe.

Speaking of multi-culti friends (inside joke) JJB’s very own Mari is participating in a Mudder. Yes, Mari might be stupid, but her heart is definitely in the right place. Please cheer her on. Go here.
Mari's Mudder


Kind Regards,
Jill

I'm not helping you, It's not my job

When I initiated the patient registry for MPS III C and D I was not thinking that I was doing an altruistic deed for the community. I viewed the registry as an absolute necessity for a treatment. https://mail.google.com/mail/u/0/?tab=Xm#inbox/163d13798b58c1f1


I wanted to know where our patient population was, how many patients do we actually have and how old are they… I wanted to know this because JJB and HANDS is funding research for MPS IIIC, one of the rarest version of all the MPS’s. I want to prove to pharma that we have the patients, in hopes that they’d be more willing to develop a drug for us.

There are only a few dozen known patients in the U.S. this wasn’t enough for pharma to be enticed to pick us up.

For example:
Back in the day I had a call with an up and coming CEO of a small biotech that claimed that his company was focusing on rare diseases. I wanted to talk to someone in the rare disease space and get some advice, maybe make a new mentor.  JJB was still in the early research stages, I wasn’t asking for any money, or partnership from this person.

When the young man realized that I was a mother and the co-founder of a non-profit, he apologized for my situation. He kept apologizing and I kept trying to turn the conversation back to business. Asking for any advice on what my game plan should be. He commented: Your disease is so rare your disease is so rare, your disease is too rare. I had to hold the phone away from my ear. I tried to tell him about the programs that JJB was implementing to help find our patient population. He became exasperated with me, he was patronizing and his tone changed from sympathetic to annoyed. Finally he said: “Your disease is so rare that nobody in this space is going to touch it with a ten foot pole.”

That was that. Obviously there was no point in trying to beat that dead horse with a stick.

Last summer I was invited to a workshop, the keynote speaker was this same guy. First time, I’m seeing him in person. I listened to his presentation, he loved himself and couldn’t help but sharing why he loved himself, he practically gave himself a pat on his own back. 

After my call with him, I promised myself that if I ever met this guy in person I would let him have it. I imagined being at a cocktail hour after a conference and one of my notable colleges turns to introduce us. Me casually remarking: “Oh yes I know you, you’re that guy who told me that my disease was so rare that nobody would touch me with a ten foot pole.”

This workshop would not be the time or place to have that quip conversation.  After his talk the organizer of the event made a beeline towards me with the asshole in tow. There was nowhere for me to go. I was not going to let this be the moment that we shook hands and I played dumb to have ever talking to him before.  Fortunately the organizer and I were on good terms. I turned to the young man who was all smiles, his hand out, waiting to be introduced and I said: “I’m sorry can we touch base soon, I need to talk to X privately.”

Then I ran off with the baffled organizer, leaving Mr. two-faced standing there alone, with his hands in his pockets. I felt like a stupid teenager when I told the organizer that I couldn’t let this be the moment that I met this guy in person. She understood and the introduction didn’t happen. A few months later I ran into the organizer at another conference, before I could say hi she jumped up and asked if she could hug me.

Turning my back on him was all that I needed. Leaving him standing there without even bothering to shake his hand after giving his ‘big’ talk.  His smile was replaced with shock, his shoulders slumped forward and hands in his pockets. A kicked puppy dog. I’m all good now.

BTW I’m on Amtrak a 4hour ride to Boston. So you can kick back, we’re both in for a long ride.

Does it make you feel good to do something for someone else that costs you nothing but means a whole lot to another person?

Do you expect something in return for your good deed?

On the train sitting in the cafe car, bad decision but wanted the work space. The employees on the train come sit here after they take tickets. Might as well be sitting in an employee lounge. I’m absolutely appalled by what these guys are saying about customers in front of customers.

A passenger brings a purse to one of the ticket takers. Ticket taker rifles through the bag to find the customers name. She makes an announcement to come forward. In the mean time the 5 of them start talking about lost items that they were in custody of and the effort that they put into finding the owner. One guy discussed a purse that had concert tickets in it to a band that he loved, the concert was for that weekend. He called the women all week, praying she wouldn’t answer. She called back on the day of the concert and ran down to the station for her bag. Another employee said he had been passed a laptop by another customer the employee called the owner and she came to claim it immediately, he lamented that she didn’t even leave a tip, she showed up with donuts. His response was: “Hey guys I hope you enjoy those donuts on me.”

I recently left my backpack on Amtrak. At customer service the representatives were very snotty. Telling me it wasn’t their responsibility to keep track of passengers items, that I needed to do a better job. There was nothing of value in my backpack, business cards and a conference folder. My name and # on it. I told them exactly which car it was in and my seat #. Nope no backpack….

Why don’t people want to do things for others? Why is it so hard to be pleasant and say I’m sorry, how can I help?

In high school I worked as a maid in a hotel. I cleaned toilets and made beds. I found items left behind all the time, I turned them in without a second thought. On two such occasions I found expensive jewelry. One was a diamond tennis bracelet, I gave it to the office. Hotel management got the bracelet back to the owner. The owner of the bracelet sent me a handwritten note, thanking me profusely, she was so happy to have it back. She admitted to assuming that a housekeeper would have kept it. Second piece of jewelry was a huge ruby ring, it was under the bed. I picked it up and put it on the night stand. The next morning, the owner chased me down in the hallway. She said she looked and looked for the ring. She too admitted to me that she thought I must have taken it. She handed me a $100.00 bill. On both occasions I was shocked that they were both so surprised that I or someone else would return their items. I found an engagement ring on the sidewalk at my university. I left a note at lost and found for someone to call and describe it to me. I got several wrong calls and one correct call. I met the owner at school and she cried, it was her mothers engagement ring, her mom had just passed away and her dad gave her the ring. The ring was too big for her but she wore it anyways. She just sobbed and hugged me. I felt awesome for getting it back to her.

Why am I discussing lost and found…
I’m attempting to make a tie in. Tell me… Isn’t it human nature to want to help others?

In 2010 I started asking around about a patient registry. I received mixed and ambiguous answers from our parent MPS society organizations. I talked to everyone and found out there was no global patient registry for Sanfilippo. The general consensus was that each country kept their own files. Nobody was in a rush to coordinate a global group registry. The UK had the largest registry that contained more then just intake information. But it wasn’t formatted to be very user friendly.

I searched for patient registry vendors, they charged more then JJB could ever afford and HANDS was focused on sending every last penny raised to research. So JJB tabled it. A few years later a registry vendor came along and offered sponsorships for a handful of registries for rare disease organizations.

JJB applied and won. It started as a basic intake registry for Sanfilippo Syndrome C and D. We could grow it with add-ons when we had funding. But this was a start. The registry has since grown to cover all the MPS, ML and Glycoprotein syndromes. Ben's Dream wanted to cover all Sanfilippo's, the National MPS society wanted ALL of the MPS plus ML, ISMRD wanted glycoprotein deficiencies added.

Once working with a registry vendor, Patient Crossroads then Alta Voice now Invitae. I saw the potential of what a robust registry could mean to science, to the patients, and treatments. It’s really very exciting and I’m anxious to to implement a couple of burning questionnaires. So far pharma has sponsored three different questionnaires, they also paid to have our registry translated to five different languages and it’s capabilities upgraded.

Typically Pharma sends out questionnaires through the doctors that they work with. The doctor then contacts the families. Or the pharmaceutical companies may have portals on their websites where families login and update. When this happens the data almost never gets published. Some families are asked by numerous companies to fill out similar questionnaires. These questionnaires can take hours to fill out, we have to go and pull up our kids medical records to answer them. This is not efficient, it’s a burden on the families and it’s a waste of precious data that could be used over and over again by academics.

ConnectMPS houses the data, it’s HIPPA and GDPR approved. It’s de-identified of course and if you never want to be contacted by anyone you just say no.

Our diseases are so incredibly rare that very few papers are written about the disease symptoms. When a physician diagnosis a patient and it’s the only case they have ever seen  they turn to the literature to help describe the disease and the progression to the families. The papers can be very misleading to our families, as our kids don’t all follow the same progression or timelines. For instance, based off of the published papers on Sanfilippo, Jeremy and I were under the impression that Jonah would never learn to talk in complete sentences or use the bathroom on his own. Doctors often send patients to the MPS society, many families find the private MPS FB pages. It’s here that we get most of our advice. But it’s not compiled or vetted by experts.

I want to see papers written on every single symptom with a large pool of patients that are culturally diverse. There is a large range of differences between a child from the Middle East to a child from Western Europe, this needs to be accounted for. Where are academics going to be able to gain access to well rounded data? Pharma doesn’t share it, registries held by International MPS organizations are not much more then a spreadsheet and not HIPPA or GDPR approved.

Lots of people don’t like to shop online or bank online because they’re scared of identity theft etc. I get this question all the time. “Is it safe.” To which I respond: “It’s as safe as safe can be.”
Which doesn’t go over well. Seriously… If you’re terrified of identity theft and you’ll loose sleep at night over the registry. Then don’t register.

I ask those that question my motives…
Is it so hard to believe that someone would want to do right by those in the same horrific position?

Sadly, my innate need to help others has been questioned. Pharma and families are asking: “What’s in it for Jill, why would she do something for the community for free.”

Here is my ulterior motive:  knowledge, treatments and drug approval. 

ConnectMP is priceless. It’s worth more then any financial compensation could ever be. So let me dispel any rumors:

No, Invitae nor does pharma pay me, I do not make a salary to promote the registry.

Secondly, JJB does not own the data, it is owned by Invitae and open to our academics, pharma and patient organizations to utilize. They have to apply and be approved to have access to data.

Yes, fee’s are involved to mine and correlate the data and to make sure everything is HIPPA approved. etc Obviously, Invitae has to be paid for their services.  JJB isn’t paying for it.

I’d like to end this blog on a positive note and thank Kevin’s family for the beautiful donation of Kevin’s organs to science. This is the very first organ and tissue donation for MPSIII C given to science. Kevin’s contribution will live on forever. The difference between studying the disease affects on a human opposed to a mouse will give us insight into the disease that we never had before. Thank you Kevin and Chanel.