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Tuesday, August 8, 2017

Bad energy

We’re between trips. Just home from the National MPS society family conference in Minneapolis. Before that Jonah and I were in Canada at the Canadian MPS society family conference.

I have a love hate relationship with the family conferences. It was several years into our diagnosis before I attended one of the meetings. I had been warned that it would be very difficult to see the later stages of Sanfilippo. Jonah was so young and in great health, I sheltered myself by not going. The first conference I went alone and attended only a couple of breakout sessions, just the ones that discussed the research. I saw in real life what was to come for Jonah and I wasn’t courageous enough to embrace the Sanfilippo children. I hid in my room and worked until it was time to go home. The second conference I went to was a bit easier. This year I had a blast at the National MPS Society meeting. I can embrace all the children now.




Go figure…  It’s the newly diagnosed parents that I find harder to look at. Seven years I have been in this space, it feels like such a long time. The first three years, I was out of my mind, inconsolable. A seasoned parent’s advice only pissed me off. I didn’t want their words of wisdom I wanted them to help me fight our children's fate.

People grieve in many different ways. You never know how one parent is going to respond to the diagnosis.  I joined the Mothers breakout session, we went around the room and introduced ourselves. There must have been 50 of us from all over the US in the room. I noticed that most of the newly dx’d parents were sitting side by side. They were the last to introduce themselves. They had to go all the way around the room listening to the seasoned mom’s lightheartedly introduce themselves. After the session I found myself standing next to one of the new mom’s, her face was long and contorted in pain. I asked her if I could give her a hug, she looked at me, lips quivering and embraced me. But I didn’t know what to say to her, to ease the pain. There is nothing that can do that. The only thing that came to mind was: “Have you joined our patient registry yet?”

I didn’t say it. Instead I found myself saying: “It get’s easier”.

I went on to stumble through the conversation shoving my foot in my mouth further and further.
Later that evening, mingling at the bar, with parents and kids. I tried to engage a typical child who was pulling on her dad . Her dad was trying to have a meaningful conversation with another newly dx’d family. I bribed her with a cookie to come sit and read with Jonah. I didn’t hear what she said to Jonah, but the father was scolding her. He introduced himself and told me that his daughter was type A. I told him that Jonah was type C. He was taken aback and commented to me that he looked SO normal. His daughter thought otherwise and her dad turned to her and said: “Look Jonah is like your sister, he has special needs too and you’re not being nice to him.”

He said it right in front of Jonah. Oblivious, Jonah sat grinning at the little girl, anxious for her to come sit with him and read books together. I have this rule, nobody tells Jonah that he’s different. Here was another Sanfilippo parent having to tell his typical child to be nice to Jonah, because he was different. My feelings were hurt. I quickly brushed it off, remembering that I have said very similar comments to Jonah in front of other Sanfilippo children and their parents.  I sat down with Jonah and the little girl and read to both of them.

I was asked to speak on a panel with Mark Dant and Elizabeth Linton, at the Canadian MPS family meeting. Alexey, offered to have us stay at his house and his wife offered to help me out with Jonah.  Jonah is on good terms with Alexey and his wife, I felt like it would be a good trip and it was. The conference was fun, the Canadians are the NICEST people in the world. Why is that?


 Alexey gave Jonah and I a tour of the brand new medical building on campus. His new lab is state-of the art, beautiful and spacious. I didn’t realize that Alexey’s students would be at work in the lab. It felt like a Saturday but it was still before 5:00 on a Friday. I first saw Carla, the student that Raquel recruited from Portugal. As we chatted all the other students started coming out from behind their hoods and desks. They were wide-eyed looking at Jonah, nervous about interacting but wanting to get a good glimpse at him. I wasn’t prepared to see all of them and have them see Jonah. How do you respond to the team of young people who are working on a treatment to save your child and all of your friends children.  Alexey had a BBQ for all of us and we got another chance to get to know each other. A brilliant, passionate group of young scientists. Thinking about them now and having a face to go with names is comforting.


The week after the Canadian conference and the week before the National MPS society conference we attended Danielle and Kevin’s BBQ in L.I., NY. That was a lot of fun too, a smaller intimate group, I like the off shoot family get togethers, where you can just chill out with friends. Most of the MPS families at Daniel’s had already met Jonah in person. They are accustomed to Jonah and not shocked by his skills.

Two more reasons why I never went to the MPS society meetings until recently. One, I didn’t want Jonah to make the connection that he was sick. Secondly, I didn’t want the other families to be resentful that Jonah is doing so well. I know that there is some underlying resentment for many families. They can’t help it, I would be hurt too, to see my child wheelchair bound and unable to talk or do anything unassisted. While a boy the same age is running around playing tag or sitting down reading a book while waiting for dinner.  That would be hard to bare, it actually makes me feel ashamed that Jonah is doing so well. I feel like an outsider at the big conferences, even though the disease ends the same way,  for Jonah it’s slower to progress. During the slower progression, Jeremy and I get to see more of who Jonah would be if he didn’t have this disease. Parents I don’t take this for granted, I appreciate how ‘lucky’ I am. I saw the sting in the eyes of parents, when they saw and talked to Jonah. I know that you know that we can’t help it. Do people realize that I’m jealous that they have other healthy children to live for? I think of the many families that are watching ALL their children dying from Sanfilippo. No matter what, there is always somebody that has it worse then you.


At the moment I’m white knuckled fighting every urge to not jump on social media and read for myself what people are saying. I had hoped that I could sit here and reflect on the family meetings in a positive and productive light. Alas there is major strife going on between our community over an overt action taken by a parent against pharma that has gone viral in our space. It’s hard to ignore. On one hand I don’t even want to engage in the conversation on the other I feel that my hand is being forced to comment.




Back story for the layman, during the last 12 mo our MPSIII community has seen three treatments for MPS III dropped, 1 for  type A and 2 for type B (MPSIII C and D, don’t yet have any trials). Shire and Alexion being the most controversy. UniQure never got off the ground before they pulled the MPS III B program from their pipeline, there is still hope for this program, they are looking for  different investors. Shire had an ERT trial going on for MPSIII A, they abruptly stopped the trial and called the families in to have the ports removed from their children. Alexion announced this past winter that they were dropping their III B program but would finish out the trial for the families that had committed their time to the trial. Last month they went against their word and pulled the plug. Both companies stated that the results from the study were not meeting their endpoints. The families argue that they are happy with the changes that they are seeing in their children.  I have sat in on conversations and been a part of privileged meetings and my take is that the closing of the trials are for financial reasons. That’s my opinion, with that said I don’t know if the drug was really working. What is the definition of ‘working’ for pharma and the parents are different. The families are looking for quality of life, pharma is looking for a “cure”. I have heard from several families that they believed that the drug was working. But I have not personally talked to every family, the thing is not every patient will respond to a drug, for numerous reasons, this is one of the many reasons why we have trials. For ultra-rare diseases we have only a handful of patients to choose from for a trial, which makes trials less expensive for us to sponsor but also makes it harder to prove to the FDA that the drug is working, because we don’t have enough patients in the trial. The PI’s overseeing the Shire trial have stated that they don’t believe that Shire gave the trial enough time to come to a conclusive decision. I don’t know what the PI’s of the Alexion trial are saying.

I have already blogged about the trial closures, I did not start out writing thinking I’d blog about it again today. This is what our fellow mom did at the conference. She wore this shirt then (among other things) posed herself in front of the Shire table at the MPS society meeting. I don’t know this mom personally and I can’t condone nor applaud her actions. I can sympathize, when Jonah was dx’d I went out of my mind and for those of you that know me well would not be surprised if I did something like this. With that said I would have sought counsel before I made such a bold statement. I reckon my council would have advised me otherwise. Sean and Mari, I have considered your council and you’re right I I shouldn’t make the analogy of beating a dead horse with a stick reference in my next presentation.

For the record I DON’T like the company Shire, I fully agree that upper management is disinclined to listen to what the patients want. I have personally been insulted to my face by upper management at Shire. But I have also gotten to know a lot of great people employed by Shire.

I DO stand by the National MPS society. I know that the society is on our side and not in the pocket of big pharma. Families, you would be remiss to think otherwise. I know for a fact that Mark Dant has stood up to pharma and fought for these trials time and time again. I have witnessed these calls and meetings first hand. I’m hurt and disappointed in my community. We must work together to get things done.

Pointing the finger and blaming each other is the best way to NOT get what you want.
My agenda was to discuss the relevance of our patient registry ConnectMPS.org. I feel defeated today and I don’t have the energy to try and convince people why it’s so important to work together for our common goal. Treatment. I feel like I’m beating a dead horse with a stick…. oops, it just slipped out.

For those of you that have registered, but have not finished the diagnosis survey please do so by September first and you will be entered into a drawing to win a $1,000 Visa gift card. Log in and win.

I also wanted to thank all those that supported Jonah’s B.day wish. THANK YOU to all those that donated and I hope your kids have a fantastic new school year.

Sincerely, JIll