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Thursday, March 19, 2015

My question is: How will you do it?

Friday February 27th I spoke at the National Institute of Health (NIH) for their Rare Disease Day (RDD) event. I was asked to tell people about my family, why we created JJB then Phoenix Nest.  There were a few hundred people in attendance, heavy on patient advocates. The NIH RDD speakers and panelists. My panel is about an hour into it.

The NIH-RDD is the last event of the week long RDD calendar.  For the rare disease advocate, RDD is like Christmas, minus the unwrapping of gifts.  The only gift we want is the gift of life, anyways.

There were three questions that kept being asked.
1. How did you find the scientists?
2. How do you work with the other foundations?
3. How do you do it?

#1 How did you find the scientists?
I’ll hold your hand here and break it down. First go here.  Then search your syndrome, example: Sanfilippo Syndrome type C.  Hopefully you’ll pull up a number of publications. This is my example for JJB’s disease.
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV.
Brain.   (FYI that’s a good journal) 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6.

The last author of the paper is the primary investigator (PI).  Now google that person, if they look reputable call him/her. FYI there good and bad scientific journals.  If you are lucky enough to have a ton of articles on your disease, ignore the outdated ones and those published in “bad” journals.   Now call your scientist! Ask what he/she is up to and if they’d be willing to continue the research for your disease. 

I called Alexey and that’s how it all started.  This particular paper is Alexey’s most recent, check out the acknowledgements.  More importantly understanding the mechanism of the disease in our mouse model, opened up the door for new treatments.

#2 How do you work with other foundations in the same space as yours?   Whom are not on the same page?

It never even occurred to me to partner up with another pre-existing foundation.  When Jonah was diagnosed I went out of my mind, I’m not joking, I was in a fit of rage, that’s the only way to describe myself. I HAD TO LIFT THE BUS OF MY CHILD!  I’d never trust a stranger to save my son’s life. You also have to note that there was no (at least published) science for type C at the time of  Jonah’s dx.  If there was an arm that was driving the science for type C, I probably would have jumped on board.  Today JJB works side be side with several Sanfilippo organizations. H.A.N.D.S.

Remember back in school when your professor made you work on a team project, to prepare you for your future job?  There was always a slacker on your team, or the asshole who said ‘no’ to everything but didn’t have any of his own good ideas.
Unless you can hand pick your team, then you’re stuck with whats given to you. In my past life I managed retail stores,  when I started a new job, the first thing I did was to get to know the staff and then cut the dead weight. My key to success has been to recruit the best employees from my previous company to my new company.                                                                                             

Jonah was (is) dying I didn’t have time nor the patients to deal with any ‘dead weight’.  So I built my own team.  FYI fundraising is really hard, it’s time consuming and mentally draining. The thought of handing over those hard earned dollars to strangers, to allocate in a way they saw fit was not an option for me.   I don’t have much respect for those that don’t get out there and get dirty, and then expect you to get in line and hand over your hard earned proceeds.

There are patient group organizations and then there are medical research foundations, JJB and our consortium H.A.N.D.S. is a medical research foundation.  We raise funds for science, not for patient outreach programs.  I don’t think that this distinction has been clearly made.  Small medical research foundations are often referred to as “splinter” groups.  Which sounds derogatory, I think that the patient organizations and medical research foundations go hand in hand.  And there is definitely a way you can build that bridge between your parent organization and your new medical research organization.
If creating your own foundation is not an option for you and you still don’t like what the parent organization is doing.  Then be a survivor, get yourself voted onto the BOD, then carefully and quietly maneuver yourself into a position to remove the dead weight and recruit fresh and innovative doers to join the board. Get creative, most of this is about the politics.

#3 How do you do it? 

I thought I had gotten past this question. People think I’m special, because I took action. I’m not special, Jonah is what makes me special. After I spoke- a man came up to me and asked me:  “How do you do it.”   I told him that I was fortunate enough to be in the position to work full time at driving the science.  He said; "no"  “How do you mentally manage it?”  That's an entirely different question.

He said: “It’s been eight years and I’m still struggling with the day to day.”  I asked him about his son, he said his boy is not in good shape, seizures, profound brain damage, blind, completely dependent on someone else to care for him. 

I opened my presentation with getting the news that Jonah had been diagnosed with a fatal disease.  I referred to the day as “ground zero.”  The Dad said to me “I know what ground zero feels like.”  Then he broke into tears....  Another Mom told me she cried straight for three years, she didn’t leave the house, she couldn’t even get out of bed some days.

Too many people think I’m a super mom, I’m not.  I don’t even come close to the families that are in much dire situations then we are in.  In my presentation I  failed to mention to the audience that Jonah is in good health and is still very high functioning, I should have clarified that.  I wouldn’t be able “to do it” if  Jonah was having five - fifty seizures a day. At that point one parent has to stay home with their child.  Some families are lucky enough to have live in help and nurses, but not everyone has good insurance and access to those resources.

So to answer that question of,  How do I mentally cope?  Therapy and anti-depressants. 
 I remember that first year of dx, ground zero.  In the fetal position crying, hyperventilating, on the verge of a nervous breakdown.  Life was unbearable. I got help.  That’s how I cope.

Parents of very sick children, have to give their kids countless  daily meds, many children undergo surgery after surgery and even chemo, immunosurpression etc.  The gene therapy that we’re funding  will most likely be administered by means of drilling six burrough holes into his skull and injecting a virus into his brain that will distribute the missing enzyme.  Seriously, if you’re willing to go through these great lengths to give your child a quality of life.  Then do yourself a favor and pop a pill, for your own quality of life.

This is why I do it.  A mother just recently wrote me this message, she’s waiting on the dx of her son and newborn.   She said this:

I don't know why I wrote to you, other than to thank you for posting things that give me hope as my distraught brain trolls websites and facebook, praying that this is all a nightmare that I can wake up from. I guess i just wanted to talk to someone who knew the depths of Hell my soul is currently in. My friends and family want to be supportive, but they just can't understand my despair right now. Your son is beautiful and his smile gives me hope. - A newly dx’d Sanfilippo Mom

Do this for me, for those of you who pray, pray that her baby is also not affected.  For those of you who can do something do something.  But don’t read this and say: “Thank God this isn’t my life.”

February is a big month for me, kinda like Christmas.  I went to WORLD earlier in the month.  Two years ago at WORLD, a genetic counselor found me and told me that she had just diagnosed a young boy Abdullah and his baby sister,  Khola.  I cried, I so desperately hoped that we could save them.  Two years later and Khola still has a real shot at walking away from this disease.  For her older brother the clock is ticking faster.  We need every able person to help us save our kids. Donate Now



This blog is dedicated to Logan, he passed gently in his mothers arms, surrounded by his loved ones. March 14th, 2015 RIP