Jasper Against Batten

The last time we wrote an update, we already mentioned that Jasper is regressing. since then, things have certainly not improved;  Jasper really has difficulties with walking so we have had to start focusing on other activities. He is clearly frustrated about it himself and his behavior reflects his sorrow. We all know it’s part of the disease, but it remains difficult for us to be so harshly confronted with the progression of the disease.

Seizure control is fine; we found a good balance in the new seizure meds. Eating and drinking is also still great!

 Because Jasper has become a big 5 years old kid (who weighs about 45 lbs), we really started to struggle with getting him in and out of our car (in his special seat). Therefore we had to trade in our Volvo station wagon for a large SUV (Mazda). Now we have much more room to put him into the car and we don’t have to bend over so much. And since we have a huge trunk, there is also no longer a need to collapse his special need stroller. So, we really did our backs a favor here!

Fundraising is still going very well. Last weekend, we had a poker tournament in Amsterdam for exchange traders. The total proceeds were about $65,000. That was considerably more than we hoped for. A big thank you to the Amsterdam trading community!! In the mean time, we have raised more than $900k in funds for LINCL research since we started this adventure in May of last year. Of course, we also started spending the money to fund various research projects. We aim to get to the $1 million mark within our first year of fundraising. A bit less than 2 months to go…

We initially started this project last year to co-fund the clinical gene therapy trial at Cornell University in NYC. At the time, this was the most promising (and only available) therapy that was ready for a clinical trial but there was no funding available. However, recently things changed in Cornell’s favor and they received funding from the NIH to execute their study. This is good news for us as it means that we can start funding other promising research as well.  Cornell will start the screening process of potential participants shortly but since it looks like the eligibility criteria have been tweaked, it remains to be seen if Jasper will still qualify to participate in the study…

On the research topic; I also spend a couple of days down in Miami last month to attend a Lysosomal Storage Disease conference. It was great to catch up with some people and meet other researchers in an informal setting to learn about the latest in the world of science.

Since our last entry, we are now back from our home leave in the Netherlands where we went for a couple of weeks. It was great to be back there and spend the holiday season with our relatives. Furthermore it was funny to see that the entire country was in disarray because of a few inches of snow whereas in Chicago it’s more or less business as usual with similar or much worse weather circumstances.

We came to the conclusion that traveling has become much harder on Jasper. It took him quite a while to get back to his usual routine and he had a pretty significant seizure when we arrived there. That’s something we hadn’t seen in a while. Fortunately, we haven’t seen it again since then.  The return to the States was difficult as well; it took him almost a week to get back to himself.

We have switched from one AED (Anti Epilepsy Drug) to another; a lighter version that is supposed to have less impact on his gait. Unfortunately, we can hardly notice any difference and actually, Jasper seems to have declined significantly in the last couple of weeks.  In particular, walking (even with braces) has become a real struggle. Speaking is also more difficult. Instead of Pip he is now saying Pi. Yet, somehow, despite all of this, Jasper remains a cheerful guy. He is happy in his school, smiles when he sees his teacher and pushes me away as if to say; ‘bye, please go now’. If I pick him up at a bit before noon he gives me a big smile and a hug which makes my day!

In terms of fundraising, we’ve had a great start to the year. On January 24, the Lakeshore Athletic Club on Fullerton  (in Chicago) organized a big family event for us in honor of Jasper’s 5^th birthday and in honor of all of the kids in this city who have participated in helping Jasper. The turnout was great with over two hundred people and everything was perfectly organized! There were all kinds of activities for kids while the adults could watch sports on television and eat food donated by a lot of local restaurants. Even Starbucks sent over more than a dozen volunteers with their coffee. One of the news anchors from ABC 7 (Ravi Baichwal) was MC for our event. Later on that night, ABC ran a report about it on their daily news show. (A few days earlier, NBC News did a story about Jasper as well.)  The two other Late infantile Batten families from Chicago also attended our event (Noah and Laine from the Vanhouten family and Bridget Kennicot.)  It was so nice that they were also there to show the world that there are more families who suffer from this cruel disease but it was also very poignant. Three beautiful kids in the same stroller / wheelchairs and Laine on her dad’s shoulders  (fortunately she is not really affected yet) and the healthy brothers and sisters that play around them like it’s business as usual.

Of course the show must go on in the Netherlands as well. Last week we had a neat article in a large women’s magazine and at the end of February we have organized a cool poker tournament in Amsterdam with the financial community.

Next week is a conference for lysosomal storage diseases in Miami. We will attend this conference and have planned meetings with various researchers and other ‘Batten families’. 

It has been a pretty quiet month.  Under the circumstances, Jasper has done really well. He did not experience a seizure from November 17 until December 12. However, after the seizure last Saturday, he was not so good for a couple of days. The myoclonic jerks are also back, but this time, only in his right hand and they seem less bothersome.

 We are also in the process of changing Anti Epileptic Drugs. We switch to a drug that is a bit milder and that also has  more neuron protective side effects.

 Because we cannot persuade the NIH to move fast enough on our repurposing drug project (to screen existing drugs in the hope of finding positive (side) effects) to help with Batten Disease),we are reaching out to two major universities to help us with this program. We are pretty close to closing a deal with one of them and hopefully, we can finally start this somewhere in January.

Furthermore, we visited some other labs and researchers to do some feasibility checks. We are currently funding one study that applies a promising gene therapy but it’s still in a proof of concept phase.

The fundraising has been a bit slow in the US this month, but people are working hard to plan the big family event being held in late January at Lakeshore Athletic Club, a major health club in Chicago. Many local businesses and families will be participating in this event and for this, we are very grateful.  But we did actually have great results from the Philadelphia option trading community fundraiser.

In the Netherlands, things were awesome. A big travel agency made a significant donation in honor of their 25 year anniversary. What’s even nicer is that they also reach out to their entire client base and asked them to make a contribution in favor of our Dutch sister foundation. That’s really great!

This Saturday, we fly to the Netherlands for our home leave so we can celebrate the holiday season with our family for a change. Happy holidays to all of you!

It’s time again for our monthly update. Last month, we expressed our frustration with the Chicago Public School organization, but fortunately, we left this all behind us as they were able to place Jasper in the Chicago Lighthouse. This school is specialized in working with multi handicapped kids. It was quite a (mental) adjustment for us to bring Jasper to such a school and let in all of his impediments, but it is our best option under the current circumstances.  Jasper loves the place, but he only attends for half days as he doesn’t have sufficient energy to do a whole day program.

If only we could avoid similar and more deadly frustrations with the NIH. Over ten researchers have spent time and effort  establishing parameters necessary to screen existing drugs for possible side effects that slow down the progression of the disease. The agreement was that if we arranged this in the private sector, the government/NIH would quickly do the actual testing of the drugs. The point of this was to potentially find near-term treatments for Batten/LINCL.  Unfortunately, they are now saying that they need more time to look at it. So now we are waiting, while our precious kids are rapidly deteriorating.  The very arm of the NIH that is supposedly focused on getting these treatments to actual patients is now saying “wait while we get our ducks in a row.”……Needless to say how we feel about this. 

On a positive note, we feel so blessed by the donations we continue to get. Fundraising was once again really great this month. Duncan Valentine ran the NY marathon and raised about $10,000. Next to that, a high school teacher in the Netherlands (Ms. Joke Dijk-Boersma) and her classes raised about $2,500 by selling books with poems they made in honor of JasperAgainstBatten. They even made it on Dutch National television.  Also, The Philadelphia option trading community is doing something for us this month. Their goal is to raise $20,000 in the month of November. So far, they are doing pretty well! On Nov 22, we have a wine tasting event in the Netherlands. Finally, a major family health club in Chicago, The Lakeshore Athletic Clubs, will be holding a big family event/birthday bash for Jasper on Sunday January 24. We will fill in the details of this event as we get closer. Sometimes, we can hardly comprehend that so many people are reaching out to us and helping us in such great ways!!

Jasper did not noticeable deteriorate this month and the myoclonic seizures did not return. Our seizure control is still fine with on average on seizure per week that usually barely last a minute. He still devours all the food we give him. Only drinking is a bit challenging for him.

Last but not least; the CBS Evening News guys finally aired a national report tonight on JAB (that was filmed over this summer).

Another month has gone by.  In the last update, we mentioned that we had
an IEP meeting scheduled to have Jasper placed in a special education program,(away from the regular public school) given the progression of his disease. It has turned out to be a very frustrating introduction to the bureaucracy of the Chicago Public School system (that currently faces enormous deficits and is thereforeprobably not very eager to refer kids to the more expensive special programs). What was supposed to take one meeting turned out to be 3 meetings instead, with one lasting  5 hours…It is a painful process that makes us want to scream. Jasper will continue to deteriorate before our eyes and the clock ticks on.  The process is taking time he just doesn’t have.  Finally, the evaluation form was finalized yesterday and submitted to the Chicago Public School headquarters for further processing. Now all we can do is wait to see if they accept it and try to work with our preferences.
In the mean time, Jasper obtained his new braces for daytime. He is not always too happy with his new equipment, but it is certainly a significant improvement in terms of his walking ability! Jasper has not seemed to have deteriorated too much in the last month although I sometimes suspect that his eyesight has become worse. The seizure control was also very good for awhile until last week when he suddenly  had a seizure that lasted about 4 minutes in the middle of the night. It has been a long time since we experienced something like this and it definitely was scary!  Of course, we hope that it was a ‘one  shot deal’ and not a change in his overall pattern. On the bright side; the myclonic seizures that Jasper suffered so much from last month have disappeared. Ironically, the day that we were to start a new drug (Klonopin) to try to control them, the jerks all of a sudden stopped! 

This month was also absolutely great in terms of fundraising. We received significant donations from both sides of the ocean and various groups of people did little fundraising activities for JAB (see also the section ‘acknowledgements’). The biggest donation we have received to date was from Capstone; a hedge fund in New York City that held a one day charity event last week  on behalf  of Jasper Against Batten. They raised 160 thousand dollars in one
day!!!  We started our fundraising campaign a bit over 5 months ago and have
raised already more than $750 thousand dollars. That’s at least something we can feel grateful about.  It would be really huge to get to the one million dollar mark before the end of the year as there is still so much research for this disease that needs funding!
Next to that, we had a nice article in ‘De Volkskrant’; a Dutch national
newspaper that resulted in a lot of good reactions.  And last but not least: we
got the news from the Dutch tax authorities this week that they approved our
Dutch foundation. This means that donations from Dutch residents to our
foundation there will  be tax deductible (assuming certain conditions are met). It
will also enhance the  credibility of our organization there.

Preferably, we would only write updates if there was something positive that we could mention. Unfortunately, it doesn’t work this way with Batten disease. Our fundraising efforts are a bit slower this month (‘only’ fifty thousand dollars in the last couple of weeks) and though Jasper started off the month really well, he has had a pretty significant setback this last week.

Actually, Jasper started the month so well that we cancelled the Botox treatment that we had planned. Instead, he will get braces that he can wear during the day (next to the night braces that he already has). However, the last couple of days he is, all of a sudden, walking very poorly. He lacks enough enthusiasm to even try to stand up for a while and gets tired very quickly. This week he also developed all kinds of Myoclonic jerks. It made him very unhappy and it is heartbreaking to watch it. We have increased his seizure medication (Depakote) to get a better control. Hopefully this strategy works else we have to start cutting carbs from his menu…

There is also no good news yet regarding the  Cornell gene therapy trial.

We spent the last month looking very extensively for other alternatives. We spoke with various doctors, researchers and biotech companies both in the US and Europe. However, it seems that whatever alternative we explore, they all need at least approximately 2 more years before they can move into a phase I clinical trial. One researcher we visited is very dedicated to this area of research and appears to be close to a very effective gene therapy treatment. However, it will likely take until at least year end to finish the ‘proof of concept’ study. After that, it might take up to another year to move into a clinical trial. We are in discussions with this lab to fund part of their research in order to run certain processes parallel and expedite matters. This might save us a few valuable months. Of course it remains to be seen if all this will become available to Jasper in a timely manner……

Next to this we are still working hard to get Jasper into a new school program. The 22^nd of this month we will have our IEP meeting with the evaluation team of the CPS (Chicago Public School). We hope that they share our conclusion with regards to the school we think is best for Jasper at this point in time.

Last but not least; last week we had an article in a big Dutch magazine; “The Libelle”. It was in a format of a mother’s letter to her son and included A letter from Pip to Jasper. We received  a lot of very nice responses from people in the  Netherlands!

It’s been more than one week and a half since we made it to the front page of a Dutch national newspaper. The paper wrote a really good story and it made a real impact, as we got many, many reactions from all over the Netherlands. Very nice that the orphan diseases (and Batten disease in particular) got some good media exposure.  Of course, we also received many donations varying from 5 to a 1,000 euros each. Furthermore, we did two fundraising events in Chicago; a photo shoot event and a wine tasting event.  Both had a good turn out and worked out really well for us.

In the meantime, we have now raised well over $500,000 with our actions and all the generous donations that we are continuing to receive.

Last week, we tried to give Jasper Omega3 fish oil which is supposed to be very healthy for the brain. Because of the bad taste of this stuff, there was a sugar coating around the tablet.  It turned out to be a mistake! Jasper, who hasn’t had any refined sugar since January, responded the same day with a pretty big seizure and another one the next day.….Fortunately, it was business as usual after that, and we learned again that sugar is the kiss of death with regards to Jasper’s seizure control.  The walking is still difficult (despite the night braces he wears). In spite of this, we have some doubt about the Botox (that was recommended to us to help with this) after reading some articles about it. We will discuss this with the rehabilitation doctor before we proceed.

Next week Jasper will start having physical therapy every day. We will evaluate the effect of this more aggressive program and then decide if we should increase the number of sessions per week going forward.

We are also on the lookout for another school for Jasper…one that suits his future needs (blind and multiple handicaps) better. I have to admit that at first, we were a bit shocked to see what kind of class mates Jasper would have, compared to the current situation. However, it is a reality that we have to face…

  Already two weeks have elapsed since we returned from our trip back to the Netherlands. We look back at a very pleasant time; we rented a cottage, we were very lucky with beautiful summer weather, and it was, of course, great and important to see our family and Dutch friends ‘live’ instead of through mail, telephone or Skype.

Apart from relaxing and seeing friends and family, there was also some work to do (for Boudewijn) and we used the opportunity to speak with the Dutch press and did a few interviews to raise awareness for ‘our story’ there. 
In the mean time we continued our fundraising. We had a couple of events just before we left (A Kids Party at the Hideout and a Baby Gap shopping event in Chicago as well as a Pancake restaurant event in Utrecht, the Netherlands that was organized by our former neighbors). A number of colleagues at employer Fortis Bank in Amsterdam organized a big raffle on behalf of our JasperAgainstBatten fund that raised an considerable amount of money. Furthermore, we received more generous (and sometimes very large) donations from  the financial industry (proprietary trading community) here in Chicago as well as Europe (London, Amsterdam).
Since the start (a bit less than 3 months ago) we have raised about $450,000. We don’t have much to feel lucky about, but this is, of course, very uplifting and encouraging!

Next to the funding of the clinical trial (gene therapy) at the Weill Cornell Medical School in New York, we started another initiative. We will screen over 3000 different existing drugs (in various doses) to find possible favorable effects that could slow down the progression of the disease. This screening will be done in a pilot partnership with the NIH (National Institute of Health) and the parameters will be established by a scientific board that consists of a number of leading doctors and researchers within this niche. Our partner, Partnerships for Cure will organize and coordinate all of this. This has not been done before on such a large scale and magnitude and hopefully, something good will come out of it which can be administered immediately or for which we can organize another clinical trial.

Jasper is doing reasonably well. After our return from the Netherlands, the walking was very bad for a little while. It almost came to the point where we started to think that walking was really over forever. However, in the last couple of days, he is doing pretty well and is walking again around the block (with us holding his harness tight to prevent him from tripping over). We are doing exceptionally well with the seizure control as Jasper had only a few very minor ones in the Netherlands, and he has had no seizure at all since we are back in Chicago! In August we intend to increase his PT schedule and we now swim with Jasper every Sunday morning. He really loves it (although he swallows a lot of pool water in his enthusiasm) .

Apart from one evening at the ER after Jasper fell and lost another front tooth last week, we haven’t seen a doctor in a couple of months. On Monday, we will see our neurologist from Children’s Memorial Hospital in Chicago (who just returned from  maternity leave). Hopefully, she has some new insights that she can share with us….

Back from a week to Disney World in Florida with the Make a Wish foundation.  We had a great time at the ‘Give Kids the World’ village park which is a park that is for ‘Wish Kids’ and their families only. At first we didn’t like the idea of going there so much but we’re so glad we went to that place. It’s so relaxed to have your own little villa and kitchen instead of staying in a hotel room.  Everything was very well organized and taken care of for us.

On the first day, we went to the Magic Kingdom which we enjoyed but it was very warm and busy.  The next day we took a break because Jasper was too tired from traveling and the Magic Kingdom visit. Staying in the park was not a problem at all since there was so much to do there.  There is a carrousel, a beautiful play ground, and a swimming pool. Besides that, there was also an opportunity for a meet and great with some Disney characters and even horseback riding. Jasper didn’t like the latter as he had a meltdown when they put a helmet on his head.

 In the days after that, we went to Sea World and had a very good time. The Shamu show was awesome.  Jeroen, in particular, loved it! We also visited the Disney Animal Kingdom which was  really nice since there is much more shade than in Magic Kingdom and it was also much less crowded.  On Saturday we visited the Epcot park. Jasper loved the Nemo attraction and clapped his hands and shouted: “fish, fish” through the entire ride!

There is now a ‘Wish Star’ with Jasper’s name on it on the ceiling of the castle in the Give Kids the World village. It will stay there forever together with the 95000 other stars of previous visitors. It feels very special.

A huge thank you to the Make a Wish foundation, Give Kids the World village and Dr. Rubin for signing us up for this wonderful experience!

Today we also made it to the front page of the Chicago Sun Times (the Sunday paper version)! Yesterday it was already available on line. We posted the article under the link section.