Thank You Bishop Haglund

Bishop Haglund,
Thank you so much for sharing your ward with us at the NBIA conference.  It was very generous of you and the families in your ward to give their time.  It was very kind.

This last week I met many new families who were recently diagnosed.  I was reminded about how big of an impact this conference can have.  We count finding the NBIA Disorders Association as one of our great miracles.

It took us a long time to figure out what was wrong with our girl.  We knew something was wrong by the time Josie was 14 months old.  We prayed a lot.  We asked all the specialists we could find, and they couldn't tell us much, just that it was affecting her nerves and her muscles.

Finally, after six years without a solid diagnosis we enrolled in the Undiagnosed Diseases Program at NIH.  They brought us out to their children's hospital in Bethesda, Maryland.  They ran test after test on Josie for a week.

Then they sent us home.

Four months later they brought us in to talk.  The doctors had very little information.  They could only tell us in very broad strokes about this disease.  They had:
* A name: Infantile Neuroaxonal Distrophy
* A cause: A typographical error on both copies of her PLA2G6 genes
* A list of symptoms: Nerve damage, iron accumulation in the brain, dystonia, slurred speech, seizures, etc.
They couldn't provide much consolation, but what they did provide was a link to the NBIA Disorders Association and the upcoming family conference in Austin, Texas.

I cannot over emphasize the importance of that first conference for me and my family.  It was an answer to our prayers.  We went to the conference filled with some deep despair.  We were immediately welcomed by people who had been through the same things.  They had suffered same confusion, the same grief, and followed similar journeys to diagnosis.

We met doctors and researchers who were developing a map of these diseases.  They are some of the most remarkable people I've ever met.  They care deeply for these patients.  We learned a lot of helpful and hopeful information about about this disorder.

We found hope in the shining examples of families who soldier on.  Families who dealt with incredible loss and disappointment and shared their deepest sorrows greatest successes with us.  We found hope in the research, the improved understanding, and the potential to find treatments and a cure.

That conference, like the conference this year, was also made possible by many volunteers who organized, made presentations, put together a picnic, and provided childcare.

Thank you so much for your help this year.  You made a life changing impact on families that really needed it.

I know that you and your ward truly fulfilled your covenants, "being willing to bear on another's burdens, that they may be light; yea and are willing to mourn with those that mourn; yea, and comfort those that stand in need of comfort."

Thanks again,
Matt Ritzman

NBIA Board Intro

Ten years ago I would have described myself by what I do for a living.

I work with databases, helping large company manage their physical assets.

Today, my "Work" feels much more like a hobby. Sure, I spend a lot of time there, but even when I am at "Work" I am thinking about Josie, my family and PLAN, Josie's disorder.

Something that I didn't realize when we first noticed Josie's clumsiness was how big a part this would play in our lives. It started off so small, it was just some missed milestones and developmental delays.

Now at times, the basic things that we need to do seem ovewhelming. Just the effort of our daily routine can seem like a lot. Then there's the advocacy for medical and school interventions, additionally, the (thankfully) very infrequent Urgent Care visits

In our PLAN break-out session, earlier today, Pam pointed out that with every accomodation and intervention, you start out overwhelmed, but then get used to your "New Normal," and things you couldn't comprehend previously become run of the mill.

But there's also so much more that I want to accomplish. Unfortunately I don't have the time and expertise to pursue the advocacy and fundraising that our disease really needs.

This brings me to why I'm here. The NBIA Disorders Association helped my family by connecting us to useful information, other families, and researchers. I cannot over emphasize how important that has been.

I jumped at the chance to be on the Board of Trustees, when the opportunity came up, because this organization has done so much for us.

Being on the Board allows me to give back in ways that match my own abilities. Just yesterday, in the board meeting, we discussed a report that Colleen had put together. It had taken her a lot of time and effort because the information came from four different databases that were completely independent. And wouldn't it be nice if she could do that more easily.

Well it turns out that my expertise in working with databases may help with this particular problem.

This is just one instance of many times when I've been able to help or I've seen somebody else use their unique skills to help out the Board. The Board is full of incredible people.

When we share our own unique skills and abilities we are truly stronger together.