Rare but Strong Together, by Aunt Kelly

My name is Kelly Weishaar. I am married to Jeremy's brother, Peter. I am Jonah's aunt. He is my only nephew and my children's only cousin.

I live in upstate New York, far away from the excitement of the Big City. Also, far away from Jonah, Jeremy, and Jill. Many of Jill's blog readers will understand the feeling of "helplessness" experienced by the family and friends of the people who are diagnosed with, or raising a child with, a rare and deadly disease. My family is too far away to show our support by attending fundraisers, hanging up flyers around the neighborhood, or flying across the country to attend conferences with the scientists who will eventually find a cure. We would do these things, if we could, but it is not a possibility.

Hi Friends...

Today Congressman Ed Towns went before the House and spoke on behalf of our family and all the other families afflicted by ultra-rare diseases. Here is the clip to the 5 min speech he gave in support of the ULTRA-ACT.
http://www.c-spanarchives.org/appearance/601249385

I can't thank Congressmen Ed Towns and Cliff Stearns enough for shedding some light on our situation! Today I'm re-posting the blog about the importance of the ULTRA-act. Please read and show your support by letting your Congressman know how important this legislation is to our Nation.

Please support the ULTRA act!

The Kindness of Strangers.

It’s been an ultra: busy, sad, and stressful couple of weeks. Yesterday my family laid my Uncle Rick to rest. It is with a heavy heart that I announce this, my uncle was a wonderful father and the best uncle a kid could have. He will be deeply missed.

Under the recent circumstances I have been a bit more sensitive then usual. I can’t help but to take it personally when I put myself, family and personal stories out there... When we’re rejected it really stings. It’s excruciatingly difficult to ask for help and lay out your most personal story for strangers to scrutinize. To have a proprietor of a local business refuse to hang a JJB event flyer up or when someone marks a message from JJB as Spam, I just want to go home and cry.

This weekend I reflected upon the kindness of strangers. Last year a mom, Justine reached out to me after seeing our interview on Good Morning America. Justine, has a son the same age as Jonah. Justine and her husband feared that something was not right with their son’s development. When they saw our interview they couldn’t help but to see the similarities between their son and Jonah. I helped Justine through the genetic testing, fortunately her son came back negative for Sanfilippo. We stayed in touch, Justine was so moved by our story that she started hosting fundraisers for JJB in FL.

Jonah and I got to meet Justine for the first time this week, she was in town for a conference. We spent the afternoon walking around Park Slope in the rain, getting to know each other. We stopped at a few local joints for lunch and dessert at both places we stopped at, I noticed a flyer hanging up for JJB’s “Charity Bazaar” event. Which warmed my heart.

Justine told me about all the events that she has held for JJB over the year and brought me the proceeds in person. She has also taken the opportunity to lecture to health care providers at her local hospital! She asked for more brochures, I had some in my backpack. The next day at her workshop for children’s writers, Justine realized it was the perfect forum to tell her associates about Sanfilippo and Jonah. She then passed out all of her flyers to her captive audience!

Last weekend my apartment felt like Grand Central station- people coming and going dropping off donations for the Charity Bazaar and picking up flyers. A new friend came over to train me on our new web host (the new site is still under construction.) Then our accountant came over for a thank you dinner (Jeremy cooked.) We wanted to thank her for taking on JJB’s filings probono. Another new friend Maria, wrote and sent out a press release on behalf of JJB, announcing our support of the-ULTRA-act. We were contacted by the Boston Business Journal, who just so happened to be writing an article about Phoenix Parents (help me coin the term Phoenix Parent: a parent of a child with a rare disease who is actively advocating for a treatment) The Burke's parents to: Jillian, Lindsey and Kelsey’s were happy to represent Boston. The article is coming out within the next week.

We also got a call back for an appointment to meet with the congressman Ed Towns, who just so happens to represent district 10 here in Brooklyn. Congressman Towns introduced the ULTRA-act aka HR 3737. I have a meeting with him tomorrow to discuss the act and how we can help each other. We have also been invited to lobby for the act in DC, the week of Rare Disease Day (February 29th.) I give that credit to Emil Kakkis, the man behind the EveryLife Foundation, whom has gone above and beyond the call of duty in order to find and develop treatments for our children.

Last week I sent JJB’s portion of our March 1st payment for our gene therapy to our researchers. I was able to send in the payment early thanks to all of the generous donations to our Holiday Remit Fund. We raised close to $17,000 from this fundraiser about 90% of the donors have never even met Jonah! Click here for an informational video about gene therapy.

I want to mention my Aunt CC, who is not a stranger but her audience is. Cecilia hosted a fundraiser at her school this past Holiday. Meanwhile Jorden George a current student @ my old H.S. also hosted a fundraiser at WHS. The events raised over a $1,000, both events happened 3,000 miles away from Jonah’s own home. I have only met Jorden once in person, yet she is planning her second fundraiser for JJB and is writing her term paper on Sanfilippo.

We got the date for our Walk-A-Than here at Prospect Park for March 11th. These dates are coveted, the park is amazing and the main attraction in Brooklyn (a new friend helped me score the date.) The date is also set for our third annual wine tasting event, as well. I’m very sorry to say that the owner of Stoller Vineyards, Cathy Stoller passed away just before the Holidays. She was up on a ladder, when she fell and succumbed to a head injury. I was heartbroken to hear this, Cathy was in the prime of her life and living her dream. I sent a letter to the tasting room manager, expressing my condolences. Grace, the manager thanked me and offered their property to us again, she had a date saved for us (mark you calendar’s for August 12th). Their generosity during a time of suffering, instantly brought tears to my eyes.

I have met several wonderful women through my Mom’s club. My friend Channon, introduced me to a photographer, Megan Joplin. Megan has taken wonderful pictures of our family and has offered her services for a photo shoot fundraisers this Spring. Megan’s Mom whom I have never met, has been a great supporter too. For the second year Marilyn has donated the proceeds from her holiday ornament sale to JJB. On her 40th wedding anniversary she asked that friends and family donate to JJB in their honor. I can’t mention Megan without mentioning Dodi! Dodi Holms from Rustic Pear photography, Dodi’s family photo of us graced our Holiday card (which I got a ton of compliments on.) Dodi donated a photo shoot to our family, which was shot on the Stoller’s vineyard. Back to Channon, Channon has another friend that has been taken by our story and wants to host a fundraiser for us at her Bar, Ceol. Tomorrow we’re meeting for the first time to brainstorm ideas!

I tell you, total strangers just keep coming forward to help us. Not to mention all of those that have stood by our family from the very beginning, thank you too!! But this blog is about those that I didn’t know prior to DX.

One last stranger, now JJB project manager. Sean Ekins, a very generous researcher who has offered his services in helping us apply for federal grants. I can hardly believe that someone I just met would give up so much time and expertise to help us. His reply: “I just want to help save the World.” Me too.

Thanks to all of those that have lent us a hand along the way. Your support means more to us then you will ever know. You’ve also just helped me brush off the negative responses that I get from hmm... I’ll just call them the haters or maybe the clueless. In any case they don’t matter.

Now to Jonah.... the whole household is suffering from ugly colds, round three. Jonah and I were laying on the couch Friday watching Pass Time, our favorite pass time. Jonah randomly tells me: “J is for Yah” (he calls himself Yah)
I replied: “Yes good job J is for Jonah”
Yah responds: “J-O-N-A-H that spells Jonah.”
I was so surprised I almost fell off the couch. My kid is freaking brilliant. We have been spelling all weekend.

Please support the ULTRA act!

Please support the ULTRA act!

Phoenix Parents: Devoted parent of a terminally ill child, relentless in the search for a cure.

Last month I asked our readers for ideas for a new name to call parents of terminally ill children that are devoted to finding a treatment for them.

I came up with the idea after reading the blog my friend wrote for Parenting. com and a recent article in the NY Times titled “Dragon Mom”. The article is about a Mom who’s child has Tay-Sach’s an awful disease much like Sanfilippo. Tay-Sachs is passed to children in the same way as Sanfilippo i.e. it’s an autosomal recessive genetic disorder. Meaning each parent has to be a carrier for a mutated gene and each give a copy of the gene to their child. Like Sanfilippo there is no cure and it’s fatal. Even more horrific, Tay-Sachs children usually die by the age of 4.

My trip to Geneva for the Swiss Sanfilippo Foundations MPS/Sanfilippo conference was a great success.

The most rest I get is on a 7 hour flight. I read, take notes, watch movies and relax. Maybe I should travel more, but I always get so home sick. The second I land in a different country I can’t wait to get home and see Jonah. Just a few days away feels like a month.

The amount of studying, listening and asking questions. Conversation, translating, networking, meeting new people, putting faces with names and science. Heavy emotions and major decision making. It is exhausting and even though “we” i.e. my parents and scientists accomplish so much in just a few days of face time. I still never feel that sense of accomplishment. These trips always open up more doors that lead to more and more work to do.

We Won $25,000 dollars, thanks to all of you!

The online voting contest with Chase Community Giving was a real nail biter. JLK started out strong then we steadily dropped, held and then dived during the last hour of voting. I was frantically emailing, texting, instant messaging, and blogging. We ended up at #81 out of 100. The last 30 or so foundations were neck and neck. Our sister foundation Team Sanfilippo won $25,000 as well. Unfortunatley Ben's Dream and Will Luthcke SF foundations didn't make the top 100. My good friends Hannah's Hope won $25,000, but friends with the ISMRD foundation fell out of the top 100 at the last minute too.