Jasper Against Batten

Again way overdue but let us tell you a bit about the past months and how Jasper is doing lately.

Jasper has been doing reasonably well. He had no challenges for the remaining of 2012. He managed to remain pretty stable and we still get the occasional smile and respond to a question usually something like ”yeeeessss” as it seems to take a lot of effort J.

In November we finally met a few of the Dutch ‘ CLN families’. We already met Joey and his family back in May but now we were finally able to meet Lennart (9 LINCL) and Bryan (9 INCL variety). It was good to spend some time together and to see the other ‘CLN boys’. Luckily they were doing well that day and were able to enjoy horseback riding on a special bed called a ‘huifbed’.

Jasper started horseback riding on a regular basis since we found out about the Johan Cruyff foundation. They pay for the first coupe of trial sessions so the kids can try and find out if it works for them. This foundation strives to have all children participating in sports; and that includes the handicapped children (regardless their level of functioning). Jasper really enjoyed the horse back riding so after the trial sessions we decided sign up for a monthly session. The horses keep him warm and their movement makes his body move too. During this session Jaspers lies on a blanket that hangs over the horses backs. It’s hard a bit to explain but if you look at the pictures below, it will become clear.

Also in November our friends from Chicago came over again to visit and Jasper really enjoyed being able to ‘talk’ to Alana in person and to hear her voice again.

In December we started the Christmas morning with a big seizure but it was a first in almost two months so I guess we had that one coming. The rest of holiday season was nice and uneventful.

In January we first celebrated Jeroen’s  10^th birthday and Jasper always enjoys the family being together and listening to all those people talk.

Then on the 26^th we celebrated Jasper’s 8 birthday.  A birthday with even more mixed feelings than the one the year before. Grateful for being able to celebrate this day and scared because it feels like we are on borrowed time now. But we do what we always do; we celebrate and go on and try to live life day by day.  Planning ahead is not really our thing anyway.

February turned out to become a totally different month. On Tuesday February 5^th we learned that Jasper had his first pneumonia. The weekend before he was sleepy and ‘off’ and on Sunday he started to run a very high fever, which he never had before. The doctor at the AMC hospital recommended having the family doctor listening to his chest so the next day she came to our house.

After finding out it was not just a cold we headed for the hospital to see what to do next. We decided that it was best to get him antibiotics through an IV but due to bad circulation and to many blood draws there were no good veins available to get the IV in. So we had to administer the antibiotics through his g-tube.

That implied we had no real business being in the hospital but we stayed for one night there anyway to have him monitored closely. Next day we went home with the prescription and had to wait to see if the antibiotics would do their job as there was not much of a plan B. Luckily the antibiotics did the job real well; after about a week he was better again. Still very tired but no more fever and much more cognizant.

However, he did keep a nasty cough all through the winter and it bothers him a lot. I feel it is exhausting him sometimes as he is getting really tired from the coughing.

We were longing for some good spring/ summer weather for him and for all off us. And finally (about one month too late) things start to warm up here J

In the mean time we also decided to slow down the work around our foundation. Since the start of JAB we have raised and funded well over 1 million USD in research. Hence we were able to play an important role in the quest for a therapeutic treatment for this terrible disease. Recently we funded, in conjunction with a few other foundations in Ireland and the USA another large gene therapy study at the UNC in NC. Dr Steven Gray, for who we already funded two previous studies in the past, again executes this study. When this study will be finalized and the results meet our expectation, a new promising therapy will be within our grasp!

We want to thank again, everyone for the support that you gave us in the last couple of years. Thanks to your support we were really able to make an impact; push forward existing projects, commence new projects and the screening of thousands of existing medicines to see if they had some side effects that could slow down the progression of this disease.

That’s it for now!

Time for an update on Jasper.

In June we were invited to come to Villa Pardoes for a week. Villa Pardoes is basically the Dutch version of the Give Kids The World village in Florida. They invite kids with a life threatening disease together with their families to stay with them for a week. They offer a free stay and a variety of activities for the family, the kids and their siblings. And more importantly, the Efteling (a big amusement park situated right next to the Villa) welcomes the kids too with free access for a week. Just like ‘big brother’ Disney World.

On June 15^th it was our turn and together with 8 other families, all with their own challenges, we went to stay at the Villa in the small village Kaatsheuvel.

We started out with a welcome dinner with all the other families. So we could meet and get to know each other a bit.

The Villa offers indoor play for all children and a huge yard with room for soccer playing and climbing.

Jeroen found a friend (same age) really quickly- they totally hit it off. Jasper needed some more time to adjust and figure out where he was but, by Monday, he to went back to being himself again.

We visited the Efteling everyday, went to see the animals in safari park “De Beekse Bergen” where you can drive right amongst all sorts of animals from around the world. We also did some art, baked cookies and bread at a local bakery, went pony back riding, listened to storytellers, a photographer took family pictures and Jasper got a Reiki treatment.

It was a fun packed week in an environment that accommodated all our ‘special’ needs to go around with a wheel chair. The theme of our apartment was: Knight’s and therefore Jasper and Jeroen slept in a ‘castle’ complete with horses and two knights watching over them from the wall.

For the first time in a long while it really felt like vacation and we all had fun and some relaxation.

A big thank you for all the volunteers and staff of the Villa for a great week! I also want to thank all the people who contributed by coming to the Villa-telling us stories and taking our pictures.

The guys in Villa Pardoes

In July, summer break started for Jeroen.  Jeroen and I went back to Chicago to visit with our friends. We had a great time and it was so nice to see our friends and enjoy some nice (hot) weather because we were lacking that in the Netherlands big time. We met up with our Batten families- the Vanhoutan’s and the Kennicot’s. And I greatly enjoyed seeing their kids too! When we left Chicago a year before, I didn’t know if I would see Noah, Bridget or Laine ever again.  I didn’t know for sure if I would be able to go back to visit them any time soon.

Jasper is still doing pretty well. In the beginning of July, we had some seizure control issues due to an attempt to switch seizure meds. But fortunately, we got it under control again after switching back to the old meds. He also enjoys the nice weather that finally reached The Netherlands as he can go outside every day. And he has grown a lot (again) and is now only about 5 cm (around 2 inches) shorter than his big brother and the difference in weight is only about 4 lbs.

In August we had a short family vacation and we took a trip to Friesland. We stayed at the Ronald McDonald hoeve for a week. It’s a Ronald McDonald house with 4 vacation apartments.

Again Jasper had a hard time adjusting and the fact that he had some bigger seizures right before we left didn’t help either… It seemed like it took all his energy to deal with the ’storms’ in his brain; leaving no room for enjoying a trip. He lost most of his engagement and became very unresponsive.  Maybe vacation is just getting a little too much for him and he prefers to stay in his comfort zone.

We still did go out and met up with a family we have ‘known’ ever since we got the diagnoses but never met before. They are the Philips family and Tom’s parents. Tom had LINCL too and passed away on March 19^th 2011. It was really nice to meet them and have an afternoon together to talk about both our kids and our experiences-So different and yet so alike. They are really very special people.

Now the school year is about to start again and even though Jasper attended summer school, it will be nice to get back into the regular routine and to have all kids and teachers back on a regular basis.

As for the JAB foundation; we’re taking it easy. We’re still getting some smaller donations every now and then and our most loyal Supporter, Jolanda, did a fundraiser again around a large Dutch walking event. She raised over 1600 Euro. Thanks again Jolanda; awesome work!!

As we already mentioned before, we’re still planning on funding the follow up study of Dr. Steven Gray at UNC together with a couple of other families. Some families are still in the process of securing funds but we expect to get this going before the end of the year.

Here is a download on the 2012 Neuronal Ceroid Lipofuscinoses Conference that I attended in London last week. This conference takes place every 2-3 years at a different place (the previous one was at Hamburg in 2009).

First, this was the best attended NCL conference ever; almost 200 clinicians, scientist and members of patient organizations. As for families, another 50 attendees showed up (many bringing their affected kid).

It was also a bit of a reunion for me to meet up with parents, scientists and members from patient organizations that I got to know so well over the last couple of years since we commenced our LI-NCL journey….It was also great to meet new people that have entered this field trying to make a difference.

The conference lasted for four days in total and the topics were (amongst other things):

• ·      The genetics and biology of the NCL
• ·      The disease mechanism
• ·      Links to other diseases
• ·      New clinical perspectives
• ·      Experimental Therapies

All these things are important, but obviously the visiting parents were mostly interested in the experimental therapies that can provide help sooner.

The most important takeaway from the sessions with regards to the experimental therapies was that BioMarin (an US based biotech company) announced that they will start a clinical trial in about a year from here (Q1 2013). They have been diligently working on ERT (Enzyme Replace Therapy) for a while now. And after some very favorable experiments last year, they felt confident that they had developed a delivery platform that will significantly slow down the progression of the (LI-NCL) disease. Obviously this is very encouraging news! In particular after the StemCells Inc (another US company) stopped their second stem cell trial for LI-NCL last year (before it even started) and after it has become clear that the current Gene Therapy Protocol from Weill Cornell will probably prove out to be insufficient to defeat this disease.

Of course it remains to be seen to which extent the ERT solution will be a fully and permanent fix. It’s likely that we will eventually end up combining several therapies; gene therapy, stem cells, ERT and some neuroprotective drugs to conquer this disease.  At the conference was also some research presented that seems to indicate that a combination of therapies provides important synergies and therefore might eventually become the way forward. However, organizations like the FDA (and their foreign equivalents) are often hesitant to approve combination of therapies at this point in time.  Which implies that for the time being, ‘single therapy approaches’ will be the option of choice.

Besides this, it is good news that the CLN2 affected community is considered interesting enough (even though it is a borderline case) by some ‘for profit’  companies to throw some resources at it if a compelling therapeutic approach presents itself.

Fortunately dr Steven Gray from UNC whom we fund, also got a slot to present his science and compelling results.  I think it became clear to the audience that the UNC (Jude Samulski Lab) has developed a pretty unique gene therapy delivery platform that is the least invasive of all the therapies I have seen so far. Now that we have developed a gene delivery platform that seems to be able to ‘touch’ all parts of the brain, we need to move on to the next level; find out if it also can treat affected cells and stop (or significantly slow down) the progression of the disease. To accomplish this, we are planning to hire a dedicated post doc (PHD student) in the lab who will spend 2 years running a large number of tests.  If that works out well, we can start our conversations with the FDA about a clinical trial (and try to engage the NIH and/or a biotech company to do part of the funding of such a phase 1 clinical trial).

Importantly, this very delivery platform will likely be used for another rare (genetic) disease in the next year or so. This will hopefully further endorse the potential of this therapy.

To continue to fund this promising work, we once again need your help. I am appealing to you now to support this research that can help us get closer to eradicating a disease that continues to rip lives apart.  We have come too far to stop now.

It’s been awhile (yet again) since we wrote an update. No news is good news I guess. Things have been pretty quiet and stable and that’s the best thing you can ask for in our lives at the moment. Jasper has been doing reasonably ok. He has quiet periods that sometimes seem to last a little longer but most of the time he is still the happy boy he has always been. He’s still able to communicate somewhat if you take the time to notice the subtle signs. He laughs when he’s ok and uses smiling too to ’say’ yes to a question. He cries or moans when he’s unhappy or uncomfortable. But sometimes he will tell us ‘out’ in Dutch when he wants to get out of bath, bed or wheelchair. And he will say ‘faster’ in Dutch when he wants to be pushed faster when we take him for a walk.

Now that spring is in the air and the weather has been really nice here recently, he gets out a lot and enjoys the outdoor sounds; kids playing, builders working and animals in their enclosures. There are many kids playing outside and sometimes they take the time and come over to Jasper to ask what happened to him and the younger ones make conversation with him. He talks back in his own way and all of a sudden a very special and almost ‘normal’ interaction takes place. Those moments are so precious. Those are the really important things in life now. The things that really matter.

We now have Roeloffien joining the team and together with Cobie and Marije, she is helping us to keep Jasper happy and engaged and fill his day with meaningfully activities.

We have fitted a new wheelchair for him since the old one just isn’t giving him the right support anymore. Hopefully, it won’t take too long before the new chair is ready so we can keep up with his growth. And since he’s growing so fast, we are already going to fit the second pair of ‘made in Holland’ braces. After waiting for almost 5 months we will finally receive the chair Jasper can use in the home next to the wheelchair. Because he can’t adjust his sitting position himself, it’s important for him to keep changing his position and different kinds of chairs help a great deal with that. And he can sit with us at the table and be part of the family at the same height when we have dinner.

Next to the chair, we are ordering a bed- box as the call it. Sort of like a day bed but with a safety rail attached. So he can relax or sleep while staying with us in the living room. We always used a small swimming pool filled with big pillows but he has outgrown that too. Plus, it’s too low on the ground for us to pick him up without seriously hurting our backs.

It’s a continuing story – adjusting the products we need so we can care for him as well as we can. Probably sounds weird but it feels like yet again the ending of a phase. Getting rid of that swimming pool that has been sitting in our living room for almost two years and has been providing a safe heaven for Jasper to play, relax and now lay in.

Jasper continues to have a good time at ’school’ as we still call it. I get a big smile when I tell him in the morning we are off to school. This month they had a traveling petting zoo in school and Jasper was able to pet a huge rabbit. It sat on his lap and he was even touching its fur. That’s very hard for him since he lost the ability to use his hands. But he can still scratch his fingers so that’s what he did. The teacher told me that when they had to bring Jasper indoors (because it was getting too cold) and took away the rabbit, he was clearly not amused. He also loves the interaction with the kids from the regular program and went on a visit to their room a while ago. He greatly enjoyed the music activity they shared.

So much for an update about Jasper. Bou has been to ‘the global NCL2012 conference’ in London last week and will share the details in a different document.

We are rethinking how to take fundraising to a higher level and brainstorming on new ideas to get going again. In the mean time, Jolanda again chose us again as her charity during ‘the four day walk’ (that’s walking around 40 km a day, mind you). Thanks so so much Jolanda for keep going strong for Jasper Against Batten. If you are interested in supporting us through Jolanda by sponsoring her, go to the link on our home page!

We are back in the Netherlands for well over 4 months now and the dust has settled. Pretty much all the reconstruction that we envisioned has been completed, our car has Dutch license plates, and the last boxes from the relocation left our house many weeks ago.

We even had our first US visitors over. Jeroen’s best friend Cole was here with his twin sister and mom to check out our new environment.

Jeroen is doing very well in school (taking into consideration that he was in a US Montessori school for nearly 4 years). An awesome report card is probably the best evidence of this. He only needs to do a bit of extra work with regards to the spelling from the previous grade to get up to par with the rest of the group. He is also starting to understand and appreciate his new sport, soccer, better every week.

We are also reaping the full benefits of our relocation now re: Jasper.  First of all, we get a few hours per day of professional support at home (which really makes a very significant difference). The two of us no longer have to do everything ourselves.  Furthermore, we got some appliances to make things a bit easier.  We got a very nice bed that’s adjustable in height (can be tilted and is totally safe so Jasper can’t hurt himself or fall out of bed). We also got a stair lift and another special hoist, to get Jasper in and out of bath without sacrificing our backs, is on its way.

Jasper has been attending his school (day care center) ‘De Ster’ now for a while. After a rough start (he needed some time to get comfortable with the new place), he seems to like it a lot. He also gets his weekly therapy there to keep him in good shape as long as possible.   Since we tweaked his meds (after consultation with his new hospital, the AMC), he’s suffering much less from muscle cramps. As a result of this, Jasper is a happy camper most of the time.

The epilepsy is also well under control; with a seizure about every three weeks we’re still pretty close to our long term average. This is mainly thanks to our hospital, the AMC, where they went out of their way to import Jasper’s primary seizure medication Depakote from the US. This particular drug is unfortunately not available here in the Netherlands and it really means the world to Jasper in terms of seizure control.

It’s almost Christmas and despite my previous remarks about being settled in by now, this is a special time of the year and we have special memories attached to it. It is one year since we were staying in NYC for almost a month when Jasper got his gene therapy surgery at Cornell University Hospital.  Back then, we were walking through Central Park on an almost daily basis, but today we’re walking through Woerden (a small town in the very center of the Netherlands). So there have been a lot of changes over the last 12 months…..

With JAB, we have not been proactive in the fundraising due to the relocation. However, we still get donations from time to time.  Additionally, we had a very nice fundraiser back in September that was organized by Bcause. This organization put together an awesome rally with old sports cars and and made JAB the charity of the day. This generated almost 10k USD, hence a big ‘thank you’ for Bcause! Next to that, we have Jolanda who collected a few hundred euros during the final live performance of the band Nederbob (which already did a performance for Jasper a while ago); and the Protestant Church of Linschoten supported us again with a similar amount.

As for the research; at this point in time, we are working solely with the UNC, where we are funding a follow up study to an earlier one with gene therapy. We recently received some preliminary results that look (again) very promising. Next year on March 13,^th the International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) will take place in London. Hopefully, our UNC researcher will be able to present his results there to the Batten community.  We are already contemplating which study will have to be designed (and funded) beyond that in order to make it compelling enough for the FDA and a PI (Primary Investigator) to approve and move forward with a clinical trial.

For everyone who follows us: we wish you a happy holiday season and a happy New Year!

Here is a quick update from the Netherlands. We’re back in the Netherlands for a bit over a month now and things are moving along. The trip over here with Jasper went well but in the days after the trip, he clearly suffered from the sudden change of environment / time zone which was evidenced (among other things) by a couple of seizures. However, after a rough first week, he started to do better and right now, everything is pretty stable.

After the first week, he also started at his new medical daycare center; De Ster. His first day there was not so good but after that, things have been much better! Jasper likes his new environment a lot and is doing very well. Just like the LightHouse in Chicago, he gets a lot of care and attention. One nice thing here is that he has more similar aged peers in his group.

We took Jasper to the AMC (Academic Medical Center in Amsterdam) to check in there as they have become our new primary hospital since leaving Children’s Memorial Hospital and the RIC in Chicago. Everything went well and other than adding another medicine against the muscle tightness (Baclofen), nothing changed.

In the mean time we also moved into our new place. The first month, we rented a place with some furniture.  Last week the container with all of our belongings arrived so we could finally start to settle in at our new house. With almost 360 boxes and other packages, it is a lot of work to unpack and find a spot for everything, but we’re making good progress. It’s also very helpful to have Jasper’s wheelchair and stander back after a month!

Nothing groundbreaking in the world of research but the UNC group, has already started their study that we’re (co-)funding and everything is moving along.

As for the fundraising: in July Jolanda raised over 1700 euro by participating in a Dutch walking event (Vierdaagse van Nijmege) and sponsoring JAB. This month (September 15)Bcause.nl (a Dutch organization) is putting together a business tour program and a part of the revenue generated is donated to JAB. We’re very excited about this!

On a more personal note; we’ve mixed emotions about being back in the Netherlands. One the one hand we’re happy to see all our family and friends and we love our new house. But on the other hand, we very much miss Chicago and all the people we’ve left behind there…..torn between two worlds…..

It has been a bit over two months since our last update. The relocation to the Netherlands is getting near. Only two more months in Chicago before we move back to the Netherlands. In the mean time we have made good progress on our relocation checklist:

First of all, we bought a nice and spacious house in the Netherlands (Woerden).  This will enable us to accommodate Jasper and all his ‘special needs’ tools (stander, wheel chair, swing) on the ground level of our (new) house.

Furthermore we found a really nice school (medical day care center ‘De Ster’ in Vleuten) for Jasper. This will be a natural follow up from the current Chicago Lighthouse school that he currently attends.  The same school will also provide daily support outside the regular school hours. This is something we look forward to as the care of Jasper is not very easy anymore.

We also found a great new school for Jeroen that should be a pretty good fit after almost 4 years of US (Montessori) elementary school.

Next to that we have had to research the availability of medicines in the Netherlands and find suitable alternatives for the ones that are not available there.

Last but not least; we also decided on our future hospital; the AMC (Amsterdam Medical Center) has a special division for metabolic diseases which includes also Lysosomal Storage diseases that are related to the central nervous system. We expect that this will be a perfect fit for Jasper.

So the most important components are in place, but next to the above, there are of course numerous bigger and smaller things that need to be addressed to ensure that our relocation will be a smooth one. We did the same thing almost 4 years ago so we are rather ‘experienced’ on this topic. However, the ‘Jasper component’ adds a lot of complexities to this process.

While Jeroen is very aware of the upcoming change (and, just like ourselves, has mixed emotions about it), Jasper doesn’t realize any of it. He lives in his own little world of school (Lighthouse), therapies / exercise and listening (he can no longer see) to his favorite movies.

In our previous journal post, we mentioned that Jasper bounced back remarkably after a very rough stretch following the gene therapy at Cornell in New York City last December. Unfortunately, the positive progression didn’t continue. Now, we have periods in which Jasper is pretty happy and comfortable. But we also have periods in which Jasper is totally unhappy and uncomfortable. We feel that the progression of the disease is slowly continuing despite the therapy that he underwent. In the last 2 months, Jasper has lost all his eyesight, his seizure activity has increased, he’s totally tube fed now and his hands are more and more clawing (which, together with the blindness makes it basically impossible to grab his toys). Jasper‘s sleep rhythm is also out of sync with ours; he’s usually awake at 5 am and often much earlier (3 or 4 am). This deprives us also from a lot of sleep, which doesn’t make things easier. There are still positive things though; when he’s in a cheerful mood he can still smile and chuckle about certain scenes in his favorite movies or about us making funny noises.  These moments still can make our day!

In the fundraising arena, we have our loyal supporter, Jolanda who will again participate in the ‘Vierdaagse van Nijmegen’ (a 4 days walking event in the Netherlands). We continue to receive (sometimes pretty significant) donations but haven’t been very active ourselves as we’re too tied up with the upcoming relocation.  The care for Jasper also demands more and more time and energy. Besides, we decided to take on a slower pace anyway in January (after a brutal 20 months following the diagnosis).  We also want to make sure that we spend enough time with Jasper! Nevertheless we expect to beef up things a bit more once we’re settled in in the Netherlands and some things are already in the works.

On the research front, we’ve made some progress. First, we finally got the results of a drug repurposing study that we started long time ago (and that took much more time than we envisioned).  From the 2000 drugs we tried, there was actually one compound that showed a small but significant change in the production of the missing enzyme. We have shared our results with a researcher who’s currently in the process of doing a similar study. So they can take our results as a point of departure. Hopefully something good comes out if this if a combination can be found that would further enhance the missing enzyme production to a level that it might have some therapeutic benefit for the Batten patients.

Furthermore we are going to do the follow up study with the UNC/ Samulski lab that we mentioned earlier. We did a gene therapy study with them last year and the results looked very promising. We therefore tried to do a follow up study with them through a fund matching program. We were rejected the first time but tweaked the proposal and resubmitted it. This time we had more luck and got approved. This follow up study will be used to validate the results from the first study (that was done with a rather small sample). This could potentially be a great and non-invasive therapy so we think it is worth pursuing.

Also some bad news from the research world; at the beginning of April, the US company StemCells Inc announced that they would discontinue their Batten Disease program. They did the first clinical trial with stem cells on 6 Batten patients a couple of years ago and were in the process of recruiting patients for a second clinical trial. Unfortunately, they had very strict eligibility criteria this time. This resulted in insufficient available candidates to participate in this study (in particular since they also had to ‘compete’ against the ongoing gene therapy study at Cornell in New York City). A very unfortunate event!

To end on another negative note; last time we ended our journal with the announcement that Tom, a Dutch boy, passed away. In the mean time, patients of this horrible disease continue to pass away; as recent as last week we got an email from a Spanish family that we met last year during a Batten disease family event in Chicago; their daughter Arene passed away…..Will the hurting ever stop?

It’s going well with Jasper. We have had a few rough months behind us after the surgery back in December. Our once ‘always so happy’ boy had some difficult days especially in January. He was in pain and we could only guess what was wrong with him. Slowly but surely, our brave Jasper is winning back terrain on this disease and it’s progression. Now we have our happy boy back-for most of the time anyway. He is happy and “talks” up a storm. Last Saturday, he gave me the best gift ever. Out of the blue, he all of a sudden said “Pip”. That one short word I hadn’t heard in a year and a half and craved so much. It took me two seconds to realize what he had said but Bou heard it too. He only said it one time but it made my day/week/ month. Oh, those small joys.

Jasper finally received his stander last month. It’s a huge thing that helps him to stand on his own. It will help him to get in a different position which is good for his little body, his bowl movements and social interaction with us. He does have to get used to it though and only uses it a few minutes a day. But we should be able to use it for longer periods at a time. Jasper is able to work with both his hands again. He is practicing letting go of an item he is able to pick up himself now. He does need help finding the item because his eyes definitely are worse. We suspect he is almost blind. Although I saw him squinting his eyes when the sun was right in them the other day. So apparently there is light going into his eyes. He is also practicing sitting more independently. Working with Nicole, our super occupational therapist, makes him happy again. He smiles when he hears her coming in the house. We started with a new physical therapist recently and are very happy with her. The funny thing is that she is Dutch but lives here in Chicago. She speaks Dutch with Jasper and he thinks that is really funny.

Sleeping is going well off and on…and changes day to day. He often wakes up because of his legs kicking and moving involuntary. He gets totally fed up with them but that too seems better to cope with for him.

Jasper still loves to attend the Chicago Lighthouse school and is less sad there too compared to two months ago. The school keeps adjusting to Jasper’s ever changing needs.

I do have some news to share with you. We have decided to move back to the Netherlands. It was a hard decision but while Jasper still can enjoy his family (grandparents, aunts and uncles) and they can still enjoy him, it’s probably the best thing to do. It is hard to leave the people here in Chicago we grew to love and who always supported us, behind. It’s hard because we have a good relationship with our trusted doctors and therapists and we have to find them all again in the Netherlands. It is good to go back and be with our parents, family and friends again. It’s good also to meet or meet again with people who helped and supported us in the Netherlands while we were here. But we are not saying goodbye yet. We will do that the end of July. We are now looking for a new home, schools and organizing help for Jasper.

The organization JAB will continue to exist as we remain committed to finding a cure for this terrible disease. The center of gravity will probably shift to the Netherlands but of course we will keep in touch with the researchers and other families in the US. We’re still active and last month we got a couple of nice donations and a Dutch band Nederbob did a free concert at a place in Woerden (the Netherlands) called ‘het Bierhuys’. A warm thank you for the folks from Nederbob and het Bierhuys for putting this together!!

Not many updates from the research corner. Last month was the annual Lysosomal Storage Disease conference in Las Vegas but nothing new and groundbreaking came out of that conference as far as Batten Disease is concerned. Within the Batten Family Coalition we’re again looking at a couple of studies. But nothing concrete yet. In earlier updates we mentioned that we put in a proposal at the University of North Carolina for a grant matching scheme but our proposal did not make it to the finalists. We’ll tweak it a bit and try it again in April. Hopefully we have more success this time as we’re eager to move this forward and have our preliminary results validated!

We want to end this journal entry with the news that on March 19 Tom, a Dutch boy with LINCL, passed away. He would have celebrated his 8th birthday the next day. We wish his parents, family and friends all the strength they need to face the coming time.

Jasper is still not back to his ‘normal’ pre-treatment level, but he’s still significantly better than in the first few weeks after the surgery. Maybe we’ll see some further improvements in the next couple of weeks, but it’s hard to have real high expectations on this topic.

Currently, we are having issues with the fact that Jaspers ‘ muscles are really tight and that causes a lot of discomfort (muscle cramps) for him. Of course we started to use muscle relaxers and pain killers but the results are not so great.

Anyway, last Wednesday, we celebrated Jaspers 6^th birthday. Jasper got a bulk load of postcards (and electronic cards) in honor of his birthday and he actually had a really good day.  the Sunday before, we had his birthday party / fundraiser at the LakeShore Athletic club in Chicago. Despite the fact that the Chicago Bears had to play a really important game, we still had a good turnout. A warm thank you to the (new) management of the LakeShore Athletic club, Sarah Ihmels, the volunteers from Starbucks, Bob Love and Sidney green of the Chicago Bulls and all other vendors  that contributed to this event!

Furthermore; yesterday another fundraiser  in the Netherlands. Jolanda van den Berg uit Woerden (Netherlands) and 20 of her colleagues from 4 DMS (a Direct Marketing Center in IJsselstein, Netherlands) spent a great part of their Saturday to contact about 1000 households and asked them for a one time donation. They did a great job and a 100 people actually made a pledge!

Also, on February 18th, students at a private school, Pingrey, in New Jersey will be having a special Bake Sale/Pizza Sale to raise money and attention for us. Thank you to Natalie Lifson and her friends for that!!

As for the research; in our previous update we already mentioned that we’re in discussion with the University of North Carolina (Samulski lab). They have a matching grant program for which we have applied. In March, we’ll know if we’re accepted in this program and get our study funded against 50% of the costs! We keep our fingers crossed.

Again, we have to admit that it has been awhile since we updated our journal. Sometimes we’re so busy with the ‘regular’ care of Jasper and all of the ‘normal’ things in life that we just don’t get to it. And sometimes there is just not much to say because things have been slow. Since we’re dealing with a progressive and degenerative disease we’re happy with a status quo at this point in time!

     In November, we had the LI NCL research conference that the BFC initiated and funded. The BFC is the Batten Family Coalition; a group of US family foundations that, in conjunction with the BSDRA, tries to find good science and move things forward.

The conference was a big success; all the ‘big names’ from the Batten research field were present and they all presented their latest research. There was also ample room for discussion so the scientists and the families had sufficient possibilities to challenge each other and to share views.

The preliminary results from a study with gene therapy that we (JAB) initiated and funded at the University of North Carolina were also presented. They look very promising so we certainly are going to follow up on that with additional funding!

Furthermore, it is of course, always a pleasure to check in with the other families and with some of the researchers.

After that, the month December came and that month was certainly not slow……

Around Thanksgiving we got a phone call from Cornell University. They asked for an update on Jasper’s condition.  A few days later we got an invitation to come to NYC for a re-evaluation (the first evaluation took place last spring).

We literally had just a few days to sort things out at home, book tickets and arrange hotel accommodation. We knew that we had to camp out in NYC for a couple of weeks if we would meet the eligibility criteria so it took quite some effort to sort everything out on such a short notice.

We flew out with the three of us to NYC on November 30. Jeroen stayed with his friend Cole and joined us a few days later. He had to stay in Chicago to take his Taekwondo (orange) belt test in that particular week.

On Thursday November 30, Jasper was admitted to the hospital for a 24 hour EEG, a neurological examination,  bloodwork and an eye examine under sedation.  Things worked out well and on Friday night we were discharged from the hospital. Jasper had passed the tests so we could come back on Sunday night for the real deal. In the meantime, Jeroen had arrived and he looked forward to his visits to Central Park. Unfortunately, the weather wasn’t so great on Saturday so he had to practice his patience.

Sunday night;  Jasper got re-admitted to the hospital for the pre-surgery MRI that had to be carried out the next day. They stuck a number of green little things on his head that help the surgeon later on to determine where to put the burr holes for the catheters. It made him look like a little alien.

Tuesday December 7 was the big day! Jeroen gave Jasper a big kiss on Monday night but we were both there to guide Jasper to the operation room where the procedure started at 7.30 am.  In the operating room we met the surgeon.  We had no further questions. For almost 18 months we had  been waiting for this day so we knew almost exactly what he was going to do. We gave Jasper a big hug and a kiss and then the sedation kicked in.  It was an emotional moment and I had to cry. It’s all the buildup tension that is released;  the fact that Jasper lies there so vulnerable but also the waiting, hoping, waiting, hoping, postponements and more waiting and hoping until this very moment!

Someone guided us to a family waiting room. Then it was just a matter of waiting and hoping that everything worked out well. Since the procedure takes about 7 hours in total we went outside to meet with our friend Alana (who came over to bring Jeroen to NYC and to support us) and Jeroen and had breakfast somewhere. After that, we went back to wait more.

Finally someone came over to pick us up. Jasper was already on his way to the pediatric intensive care. He would stay there until he was really awake. He slept almost the entire night but a few times he woke up for a little bit. The next morning they had to perform a post-surgery MRI to see if everything went well. Jasper was still so far out that they could do the MRI without an additional sedation. 

Then the process of waking up and being cognizant started. We knew it would take some time. Kids with brain damage  and neurological complication usually need more time than average to recover from a procedure like this.

The first few days things were going well; he sucked his thumb again and all the vitals looked good. But on Friday, we saw a subtle twitch in his face. It was so subtle that we barely noticed it. However, on Saturday the twitch was already more manifest and we brought it to the attention of the neurologists that were on duty. They were not too concerned and since everything else was good, they let Jasper go. At first we were delighted and happy to be out of the hospital.. but over the course of the weekend our happiness disappeared and we grew increasingly concerned.

Jasper took quite a few steps backward and it is hard to deal with for us. We know we have to be patient. It was a big surgery and kids with Batten are even more vulnerable and fragile.

He became basically bedridden and tube fed. “Luckily” we had the g-tube and could start to work out how that would work out best for him.

December 16, we went back to the hospital for a new evaluation that was part of the protocol. And of course to discuss the situation. The stitches were also removed from his head and that looked all good.

After a break of a few days, we went back into the hospital for the last time on December 20th. Jasper got hooked up for another 24 hour EEG, bloodwork and neurological assessment. The twitch had become slightly less.

After being released on the 21^st we went to the airport where we waited for our flight back to Chicago. The weather in NYC was fine but in Chicago the weather conditions were less favorable so we have some delay.  Eventually, we get boarded and we depart from NYC. Jasper cried a lot but eventually he became so exhausted that he fell asleep and slept for the entire duration of the flight.

When we arrived in Chicago, it was bitterly cold compared to NYC but we couldn’t care less! Never ever were we so delighted to be back home after spending more than 3 weeks between hospital and hotel!

In the mean time we’re back home for well over 2 weeks. We have much more experience with the tube feeding schedule and mechanics and the meds have been tweaked a few times. In the last few days  Jasper is certainly better than a couple of weeks ago. He seems to be more cognizant and awake, smiles and laughs sometimes and seems to enjoy watching his favorite movies. However, it is still a far cry from his pre surgery baseline.  He still cannot eat by himself, is wheelchair/ stroller bound and the twitch comes and goes (although it has become of a milder nature). We can only hope that sufficient rest, proper feeding and being back in his old rhythm will slowly bring him back to his old base level in the course of 2011.

In the mean time  the correct piece of dna has been applied to the brain cells that have been affected by the disease. Hence the production of the missing enzyme will now start in his brain. Jasper is the second kid that got this treatment this time around. So there is little or no information available concerning the further progression of the disease.

Since just a few days ago, Jasper is starting to say a few words and his neck and trunk muscles seem to get stronger every day. He is now (1/8/11) able to sit on his knees with heavy assistance and with his head up. He can put his thumb in his mouth without help and suck it really well.  He also started to say “hello daar (there)” which is a combination of English and Dutch. It came out of nowhere and he has repeated it a lot. So positive things are definitely happening.

The show must go on, so we move forward with our JAB organization to continue to find a near-term treatment for Batten. In the Netherlands,  the organization of a wine tasting event is in progress.  Here in Chicago, we have a fundraising coming up in honor of Jasper’s 6^th birthday that will be supported by The Chicago Bulls Organization.  We also are looking at new research opportunities that we would like to fund to follow up on the promising results of our first study at the University of North Carolina. There is still a lot of work to do!

We want to thank everyone for your support in 2010!  It has meant so, so much! We hope that you keep on supporting our cause and we wish you all a healthy and happy 2011!