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.
