Brief update

Well, it's been a long time since we've posted an update on Jacob. He had a great summer, (with the exception of low-grade fevers almost every week and a quick trip to the ER for an ankle xray) and school is off to a good start. And he's lost his second tooth, with a third one wanting out too!

During the last 2 weeks of summer, Jacob attended Camp Robin Hood with his best pal Kelly by his side. It was there he met Taryn who quickly decided Jacob was her #1 best friend. After a few short days she changed her mind and Jake became her boyfriend. As you can see by the picture, they make an adorable couple! They had their, according to Taryn, "first date" in September when they drank some milk together (Taryn from a cup, Jake through his tube). Taryn is an amazing little girl who loves playing with Jacob and does a great job of making him smile.

Jacob lost his first tooth!

It was loose since his birthday, and on Thursday night (July 18), Jacob's loose tooth fell out! He was showing his 'Poppy' how he can wiggle his tooth with his finger (with mom's help) and the next thing we knew, the tooth was out. Jacob was so excited, and a bit surprised with the hole it left behind. When he moves his tongue to the spot where his tooth was, he gets a funny look on his face as if to say "something feels different here".

Jake Turns Five

As a quick update from my last post Jacob has been doing much better. It seems the botox made an improvement and he's been in less pain. It does seem to be wearing off, but it is effective. It's been tough to really guage things lately because of Jacob's behavior. He seems to get mad at Marcy and me and will scream sometimes for hours on end. He doesn't do this at school or even with Gina, his nanny since he was first born. However, other part time care givers aren't so lucky. A very sweet PSW has been working with him one afternoon a week for a couple months. But as soon as he sees her, he starts up and doesn't stop till he goes to bed.
So was it pain that was bothering him? Was it behavioral? Since a little advil made such a difference, I believe pain was definitely playing a role. However, it's equally clear to me that he's giving us a piece of his mind. It hurts watching him when he's so miserable and angry.

Meanwhile, he just had his fifth birthday which has been a critical milestone in our minds for several years. Typically, a childs brain develops during the first five years. We also found that Jacob has been developing, albeit slower than other children. Our theory is that his brain has been developing faster than the disease has been progressing and that's why we've been seeing steady progression. In our minds, we gave ourselves a target of his fifth birthday to get some treatment into him while his brain is still developing. This would allow him to develop his brain as much as possible to set him up for the rest of his life.

Sadly, although we first got wind of the experimental drug we're working with three years ago, we failed to meet our target. We failed Jacob. We have loads of excuses, mostly because we rely on so many others that we cannot control. In fact many of those doctors, researchers, etc. probably also have loads of excuses why they were too busy to make a phone call, or read an email, etc. These excuses will not buy Jacob any increased brain development and are therefore completely irelevant. We failed Jacob.

We need an Ontario MD to help. We want to develop a safe protocol so that we can start Jacob on this drug. We'd like to be able to do this in hospital to mitigate the risks associated with potential unexpected side effects. We're not wreckless here. We've done research into the disease, the drug, and we even funded a scientific study to experiment with the drug in animal models of Jacob's disease. Right now, given the current state of PMD related research, this drug is Jacob's best chance for improved quality of life.

Having said that, we're cautious about the risks and we're open to disprove our theory if it's in Jacob's interest. However, vascilation is unacceptable.

How do you get this done in Canada? Money is not the answer. What's the problem? CYA. Nobody is accountable to help kids like Jacob. On the other hand, they're all afraid he might get worse. And that is all the rationalization any of them need to sleep sound at night. If only they had to spend one night at our house.

Speech given by Marcy at Zareinu Golf Tournament May 29,2007

Like most parents, I love talking about my children so when Randy asked if I’d speak to you about my son, I welcomed the opportunity.

My son, Jacob, is an adorable 5 year old with a great sense of humor. Like most boys his age, he loves the rides at Canada’s Wonderland and funny noises.

Unlike most kids, Jacob can’t sit by himself; he can’t walk, can’t eat and can’t speak. But when he’s with his teachers and therapists at school, the only focus is on what he can do and what his latest achievements have been.

The first few years of Jacob’s life are like very blurry images in my mind. It was a very difficult time, especially when we didn’t know what was wrong with him. One of the clearest memories I have of that time was walking into Zareinu for the first time. I came to check out the Infant Intervention Program to see whether it would be appropriate for Jacob. This stands out, in my mind, as one of the most difficult things I have ever done. The staff could not have been warmer or more welcoming but all I could focus on were the wheelchairs and funny-looking equipment in the hallways. I remember not wanting to stay. I also remember realizing that Jacob needed to come and benefit from what they were offering.

Jacob started coming to Zareinu when he was 16 months old. Because he has a weak immune system, we were worried that his exposure to other kids would be very dangerous for him. Ellen understood this and set aside toys that were for Jacob’s exclusive use while he was in the program.

Jacob graduated from the infant program and moved into the nursery classroom where he has been for the past 3 years. Jacob gets so much love, attention and therapy, more than I could describe. His teachers joke that he should have a pager because he spends so much time out of the classroom, either having 1:1 therapy or zooming around the halls in his powerwheelchair and walker.

The African proverb “it takes a village to raise a child” is so true for us. The staff at Zareinu have become part of our family. They share our joy at Jacob’s accomplishments, worry with us when he is sick, and for the past 2 years, celebrate his birthdays with us at our home.

Jacob is an inspiration to so many around him. He works harder in a day than most people do in a week, and he never gets frustrated. He tries so hard and gets really excited when he masters a task. Jacob gets the opportunity to learn, interact with other kids and staff and really thrive at school.

When I pick him up at the end of the day, I don’t notice the wheelchairs in the hall anymore. I only notice the big smile on my son’s face.

Pain

How do you know when your child is in pain? Well, maybe we're not the swiftest because it took us several weeks to figure out that Jacob was in pain all those difficult evenings. It's a bit embarrassing how many smart people, parents, therapists, doctors, etc. it took to realize that Jacob was in pain due to spasticity.

I guess we knew this day would eventually come, but we hoped that Jacob would be different. We hoped that with all the special therapy, nutrition, and experimental treatment would somehow protect Jacob from the inevitable effects of this degenerative disease. This may be the first lost battle in the race to treat Jacob before the degenerative effects catch up. Clearly, we can't afford to lose any more battles.

On the bright side, we finally got to the local botox clinic yesterday to help relieve Jacob from the pain from spasicity. We've had him on pain medication for the past couple weeks which has certainly helped. In a few days we'll wean him off these meds in hopes that the botox will be enough to do the trick. Jacob got eight shots in his calves. It will take some time to take effect and we may have to do some more muscles to relieve his pain. In any event, it looks like we're back on top of this one.

Time to get back to the bigger picture and get some experimental treatments underway. Next stop, seizures. What will we do? Do we treat him for seizures even though he doesn't have clinical seizures? Looks like we need some more investigation.

Maybe we'll try anti-seizure meds. Maybe we'll get to try the experimental treatment in a hospital. Maybe we'll do both together. Keep your fingers crossed for our little Jacob!

The best smile you've ever seen!

When Jacob laughs, those around him can't help but laugh too.

Last week, when I came to school to pick him up, one of his teachers came running over to tell me that he said "Evey" as clear as a bell. Evey is a five year old girl who was Jacob's first friend. Apparently Evey was asking him to say her name, even helping him close his lips with her hand like she sees the Speech Therapists do. And he said it. The next day, with some prodding from one of his teachers, he said her name, "Ahuva", also very clearly.

When I hear and see things like that, it reinforces to me how much is going on inside Jacob's head. There are so many things he wants to say and do but has difficulty with the execution. That's why we are trying so hard to find something, some way, to help him express himself, to move and to play the way he wants to, not the way we think he wants.

It's hard to believe that after we've come so far, our biggest hurdle is doctors who are too afraid to help us, too afraid to learn about PMD and not even willing to explore the potential treatment we have waiting for him. We don't expect anyone to be comfortable with trying an experimental drug on a four year old child. In fact, we shouldn't feel comfortable about any child with such a debilitating disease. We're not comfortable at all. But we've done our homework, we are not being reckless. We are more afraid of not doing anything and letting this awful disease progress down its natural course than we are of trying to help our son. Our son, the one with the best laugh you've ever heard and the biggest smile you've ever seen.

Just When You Think We're Getting Close

Today was another difficult day. Today we found out that Jacob's EEG showed "
epileptiform activity". Not good.

Why did Jacob even have this EEG you ask? That's potentially even more distressing than the finding itself. You see we've been looking for local Canadian doctors to help us put together a protocol to try out this experimental drug on Jacob. One of the local docs asked that we first get a baseline EEG before we meet. We never thought anything bad would show up.

Jacob may be experiencing small seizures which could potentially have a significant impact on his cognitive development. This will also make it harder to get a local doctor to risk helping Jacob with the experimental treatment for fear of triggering amplifying seizures. While there is absolutely no indication that this drug causes seizures, other more widely known drugs such as 4AP, are known to cause seizures.

Obviously, we're very concerned about Jacob especially because he's been having a very difficult time lately. Something has been bothering him for the past two months or so. We're not quite sure what it is, but it seems like he's in pain or uncomfortable. We were even wondering if he's experiencing something called "startle seizures". Perhaps this is what's been making the past couple months so difficult.

We're not going to give up. If we need to treat Jacob with anti-seizure medication, then we'll do it. In fact, there is a theoretical possibility that some anti-seizure meds may help protect the oligodendrocytes from apoptosis which may reduce the severity of Jacob's disease and its progression. There's still so much to do to help Jacob....

After The Rush

Well, it's a bit more than a week after Nightline aired our story. Jacob is doing much better now that his two ear infections have cleared up. In the past week we've had thousands of hits on our website and many, many very encouraging messages, emails etc. A number of people generously donated to the PMD fund at Jacob's Ladder. Marcy and I have been trying to thank each and every one of you. Thank you for your support and generosity. We will let you know how things proceed with journey to help Jacob and others like him.

In the next couple weeks we hope to get more results from the drug testing. In parallel, we've been trying to find a local doctor that would help go through the process to get compassionate access to the experimental drug. This appears to be another challenging hurdle. Any and all suggestions are welcome! We'll let you know how this progresses.

Jake's Dad

Countdown to Nightline Airing Our Journey

Today Nightline posted a preview of the week's stories. Click here to see a clip of Marcy and me. Early this morning we put a brief notice out on the news wire, CNN Matthews. Canadian Press will put something out on Wednesday and CBC TV will come to shoot Thursday. What a crazy week to be away on business!

This Drug Might Help

Last October the first sick mice were given this new drug to see if it helped relieve their symptoms. Unfortunately, there was no significant indication that it helped. At least it did not seem to harm the mice either.

After a while, the research team agreed to try higher dosages of this drug. A week ago we found out that the new dosage showed some obvious improvements in the mice. The researchers video taped several different experiments for us to see. This really was the profound improvement we had dreamed about!

While this is still a very premature conclusion, it's important to get working on the next steps to streamline the overall process. We're not even sure how to navigate the system to get compassionate access to this experimental drug.

Here in Canada, there is something called a "section 8" that we need from the government. It seems we'll need doctors' approval, hospital approval, and various layers of government approval. Anyone who can help us navigate this beaurocracy would be greatly appreciated. We'd especially appreciate help from people with strong ties to Toronto area hospital administration.

Of course, even with approval from the government, we'll still need to get some of the drug from the manufacturer. It's not even clear to me how to convince the pharmaceutical giant to part with this drug while it's still experimental. Again, any advice or contacts would be greatly appreciated.

Jacob will be five years old this May. We first found out about this drug three years ago. It took over a year before we were able to get a research project approved to use this drug. Now we're gated by the speed our mouse colony can reproduce. Please help us take as much time out of the process as possible. Jacob needs this to work.

Nightline Interview

Just a few days before Nightline was scheduled to come interview Marcy and me we received incredible news from our research team at Wayne State. The drug we're testing appears to have a noticeable effect on the sick mice! Before long we managed to download several video clips of our dear little mice. Of course Ethan, our Nightline producer, was thrilled to get this news as he'd already planned to air our story.

On Wednesday a local camera crew showed up at our house and transformed our family room into a television studio ready for John Donvan to fly in for an interview. John was a very warm, interested and compassionate interviewer who spent a few hours with us discussing our lives since Jacob was born.

After the interview along with the camera crew, TV producer, Nightline correspondant John Donvan, we headed to Zareinu to film Jacob at school.

This was a big day for all of us.....