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.

Road Conditions

I know the fingerprint of the streets that I frequently ride. I know where most of the potholes are and how to avoid them.  

It hasn't always been that way. When I started commuting, I was startled by many of the bumps in the road.  Now I anticipate the problems.  I can avoid a the bumps and dips, and I can slow down or cushion the force for obstacles that I can’t be completely avoided.

In most areas, the shoulder is a total mess.  There’s debris near the edge; rocks and gravel, glass and litter.  Also, the worst potholes occur on the side of the road.  It is a dangerous place to be on a bike.  Swerving around this flotsam can send you into traffic.  It is just better to travel in traffic, and act like a car.

The potholes and debris are an unintended consequence of the design of roads.  Most roads have a high center crown that runs the length of the road.  This is to make the water drain quickly from the road for the safety of the traffic.  Once the water is to the side of the road, there is often a storm drain to transport the water away from the area.

The slope and moving water have several effects:

1. Debris on the road tends to move toward the sides.
2. Water that doesn’t quickly drain away stays on the side of the road.
3. Water that pools in one location will cause the road to deteriorate and cracks and potholes to form.
4. The storm drains are, themselves, hazards to cyclists.

If the shoulder is very wide, traffic is moving fast, and there aren’t cars parked in it, it can make a lot of sense to ride in the shoulder.

Otherwise it is best to ride in traffic; generally in the right lane, and toward the center.  Ride in a straight line, and be as predictable as possible.

Let's fire this thing up and see if it still works

I've decided that I will be more serious about cycling.

Although cycling has played a huge part in my life, I've kinda down-played its importance.  I've never felt like a REAL cyclist.  I'm not particularly fast.  I don't really care for the Tour de France.  I've never ridden in a race.  Organized rides are fine, but I'd much rather be out on my own.  I don't own a lot of spandex, and I definitely don't look good in it when I do wear it.

But I've got some serious street cred for cycling:

• I've been biking since I was five or six.
• I've used a bike as my main method of getting to and from work ever since I had a paper route at 12 years old.
• Cycling was a key aspect of courting my wife.  We wouldn't have gotten together if it wasn't for our bike rides.
• A significant portion of our vacations have been biking tours.
• I biked from New York to Utah on my honeymoon.

Now that I've realized my True Identity, how will I use my powers for good?

Timeline of Josie's condition for the new neurologist

We're taking Josie to see a new neurologist tomorrow.  Last year we realized that we need to keep track of her abilities so that we can share that information with new doctors, therapists, caseworkers, and anybody else who asks.  So here it is.  Looking back it is a bit depressing, but the good news is, her condition hasn't gotten much worse over the last year.

Josie's development up to about 1 year seemed fairly normal or at least unremarkable.  We could be a little off on the ages cited below but overall development seemed to be within the normal range her first year.

4 months or younger - amazing head control, would often lift head up from car seat as if sitting up.

5 months - rolling, scooting

6 months - sitting up

10 months - crawling on knees and hands.  Josie was a good crawler

12 months - we noticed that she wasn't developing her speech and motor skills as a typical one year old would.

12 to 14  months - began pulling up to standing position but not as much as our older daughter.  Don't have clear memory of when sleeping became a problem but it was around this time possibly before.  Josie would wake up many times during the night and did not sleep for long stretches. 

18 months -

·      Several  indicators that something was wrong.  Shad not yet begun to walk.  Her pediatrician ruled out metabolic problems and bone structure problems and referred me to a P.T., Debbie Patrizi.  The PT referred me to pediatric neurologist and a pediatric orthopedist. The Ped orthopedist, Dr. Lincoln, said that whatever was causing her not to walk had nothing to do with her bones. 

·      Summer 2006 - first visit to pediatric neurologist, Dr. Griffen.  Dr. Griffen ordered several blood tests; none of which provided a diagnosis or direction.

2years 2 months - Early 2007 - Josie finally begins to walk independently but with difficulty. 

2 years 3 months - Feb. 2007  Muscle and nerve conduction test in Fremont.  Results showed that Josie's muscles were fine.  Strongly suggested a nerve problem.

2 .5 years -

·      Around April or May 2007 - Josie had an MRI, everything looked fine.  Josie was walking at this appointment. Dr. Griffen moved to S.F. so we started working with Dr. Malhotra.

·      Josie was a W sitter. Josie would crawl and put herself in W position or change out of it on her own.

·      May 30, 2007  - Josie started Anat Baniel Method  (ABM)

·      Early June 2007 Josie abruptly stopped walking after 8 sessions of ABM. Josie was still mobile at this time with crawling and some climbing.

·      July or Aug 2007.  Josie started using a walker.  She was very good at using the walker to get around.

·      Aug. 27, 2007.  Josie fell over in the driveway in her walker.  She broke her elbow.  This was the beginning of a huge setback.

·      Sept 07.  While Josie was in full arm cast, we did more ABM with different practitioner.   The cast severely limited her ability to move although she did do some crawling with cast.  Very little if any walker use and from her fractured elbow on she never effectively used the walker again.

Almost 3 years to 3.5-

·      October 8, 2007  Josie had a biopsy of her muscles and nerves.  Biopsy showed axonal degeneration with some reinnervation.  Biopsy also showed that muscles were fine.

·      Continued gradual loss of abilities and mobility over the next several months.  Even unable to sit up for a while but we pretty much got that back through therapy efforts with Lynn at Concord CCS.   Somewhere during this time Josie got her first pair of AFOs.

·      Early 2008  Becoming very hard to transport (lift) Josie.  She weighed about 50 pounds. She was transported with a CCS loaner wheelchair at pre school.  At some point they lent us the wheelchair for bus transport.  In March 2008 we got a loaner wheelchair from National Seating and Mobility - at first it was a terrible fit but later adjusted and it and it worked fairly well for bus transport.

·      June 2008  we purchased a Quickie wheelchair.  She loves her wheelchair but she began slipping out of both the old and new wheelchair.  This continues to be a problem.

3.5 to 4 years -

·      August 2008  We moved to Oakland.  Josie's grandpa did intensive exercise regimen with Josie over the course of this year.

·      Somewhere in this time period Josie starting to lose the ability to crawl on hands and knees and overall strength. 

·      Nov. 2008  Josie was casted for new AFO's in an attempt to stop Josie from "slipping or slithering" our of her old ones. 

4 to 4.5 years

·      Dec.  2008  Finally started PT and OT with Oakland CCS one hour per week.  Josie had received NO services since summer.  By this time Josie's heel chords were very stiff and her plantar flexion was very limited.  Feet deformed looking.  No ability to stand.  Rolling over gone by now too.  Crawling on all fours doable thanks her grandpa but very very labored. 

·      Dec. 23, 2008 - through efforts of CCS PT got Josie in a loaner mobile stander.  It made an incredible difference.  A combination of AFOs and the stander greatly improved her plantar flexion in her heels.  In fact, the AFOs needed to be remade with a sharper angle.  We also borrowed weight bearing walkers, but Josie never learned to use them well. 

·      April 2009  Met with Malholtra.  Autoimmune disease possibility raised.  Malholtra said he hasn't helped us much.  Upon our request for other opinions, he suggested we go to St. Louis to meet with Dr. Connolly, a doctor he worked with previously.

4.5 to 5 years

·      Approx. May 2009.  Josie got her own mobile stander to replace the loaner, which was getting small.  Right around this same time she got a pressure sore.  Without the use of her AFOs, she lost her ability to plantar flex.

·      June 15, 2009  Josie became very constipated (didn't have BM for over a week).  From then on she has seemed a lot less regular despite our efforts (lots of water, fiber, supplements, etc) to get her back on track.  She currently has a bowel movement 4 to 5 times per week - the feces is very hard. 

·      June 20, 2009 I started giving her some SunRider foods.  Sometime soon after sleep improved.

·      Summary of Josie's abilities as of July 2009. 

Able to roll tummy to back, still needs a little assistance back to tummy.  Able to rock side to side on back and does it often.  Able to deliberately lift legs one to two inches while sitting in the potty chair. Able to wheel wheelchair and stander around house with skill and functionality.  Sings ABCs and others songs.  Repeats a lot of things she hears. Answers simple questions.  Tolerates the walker well for about an hour a day

Josie can army crawl with much effort.  It takes her a while to get anywhere and the farthest she crawls in one effort is about 3 feet.  Some days are markedly better than others.. She has the routine of army crawling to her shoes every morning.

Josie attends PT and OT at Oakland CCS on Tuesdays from 9 to 10. Josie has had intermittent great days at therapy where she army crawled over 15 feet or really got into rolling.  However, there have been low days too.  We seemed to have completely lost crawling on all fours since therapy started.

Josie can maintain the sitting up position with legs in front of her but bent a little (called ring-sitting) on the floor, although she hunches over and grabs her pant legs for support.  She has to be encouraged and does not prefer this position.

We started swimming lessons twice a week on June 15. 

·      August 2009.  We went to St. Louis Children's to meet with Dr. Connolly.  She gave Josie a sedated muscle and nerve conduction test.  Dr. Connoly's opinion is that Josie has a muscle problem, not a nerve problem.  Several possibilities came from this appt, but none have panned out.  Again, possibility of an auto immune problem was raised.  Neither Connolly or Malhotra could explain difference in results between biopsy and her conduction test. 

5 to 5.5 years (present)

·      Josie has maintained most of the abilities in above summary but no longer tolerates her walker for longer than 10 minutes.  She has lost most of her ability to use her legs in an upright position (and the walker no longer fits well.)

·      Sleep continues to go well; she responds well to our bedtime routine and sleeps through the night (about 8p.m. to 6a.m.) most nights.

·      January  2009 - Heel chord lengthening surgery.  Successful!

·      March 2009.  Josie got her casts off from surgery - shortly after that she got another pressure sore on her right heel which took 2 months to heal.

·      Seems to be growing cognitively, especially an improvement in speech.  In many ways her cog. Development is about the same as a 2 or 3 year old though her fine motor is significantly less

·      Socially, she is comparatively advanced.  She loves people.  She loves school, loves her teachers, and loves church.

·      Although she has been drinking out of a cup for over a year, she still "forgets how." Often coughing and spluttering, especially when not in her highchair.

·      She thrives on routine.

·      Has always had a very short attention span but will now pay attention when short books are read to her and retells some of the books on her own.

·      Continues to have good reflex responses in legs and feet.

That's it for Josie's first five and a half years.  Still no diagnosis.  We haven't made much progress on that front in the last year.  But she's stayed pretty steady in her abilities for the last year.  It has been a great respite from the times when her condition got progressively worse in awful bursts.

We don't expect much from tomorrow's meeting.  But we are hopeful that this will be the beginning of a fruitful relationship.

Maker Faire - What a blast!

The Maker Faire was awesome again.  It is incredible to see all the amazing things that people come up with.  There is so much to see.  It is a bit overwhelming.  Most of the time, we flit from booth to booth, like gnats with ADD.

Next year I think I need to accept the fact that I won't see the whole thing, and spend more time at the individual booths.  One of the coolest things about the Maker Faire is that the guy who came up with the idea is right there, talking about his (or her) creations.  They did a great job, I should thank them for that.

So to all you awesome makers out there, Thanks!

Now here are some pics:



And a Video:



One of the coolest things was running into old friends there.  It is pretty awesome to see a familiar face in a crowd of 50,000.  I hope to see you there again, next year.

Response to automobile-centric design

Corbusier's Villa Savoye is notable because it was designed exclusively for cars at a time when not everybody had one.

Things have changed since then.  Today nearly EVERYTHING is designed for cars. We don't even notice how much of an impact they have on how we live.  For instance, 1/4 of my home is devoted to the garage.  1/2 of the area of any retail establishment is required for parking.  A significant fraction of a city is devoted exclusively to cars.

As a design exercise, I'd like to consider how the built environment would change if we put an equal effort into design for bicycles.

Where to begin?  An internet search for bike storage.  Here are some of the best results I found:

 http://www.re-nest.com/re-nest/shelving-storage/a-green-search-the-best-indoor-bicycle-rack-026165

http://www.remodelista.com/posts/storage-inside-bicycle-storage-roundup

http://www.flickr.com/photos/fastboy/287650174/

http://www.flickr.com/photos/toomanybicycles/258520950/in/set-72157594433824691/

Honestly I'm a bit disappointed in these.  You can either hang your bike on the wall or hang it from the ceiling. 

I want something more.  I spend a significant amount of time and money on my bike.  I think it's a thing of beauty.  I'd like to store it in style.  Perhaps put it on display when I'm not riding it.  I think there's a lot of potential for innovation here.  What if the bike replaced the fireplace as the focal point of a living room?  A hook shaped wall hanger just doesn't cut it anymore.

Got any ideas for better designs?  Tell me about them.  I'll post my own ideas in future blogs.