A Cherished Angel | Fighting Type 2 and 3 Gaucher Disease

Bone Marrow Transplant Hanging Over Our Heads

Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Treatment

The whole bone marrow process is out of our hands. It’s up to the doctors to make things happen.

But that doesn’t really stop people from asking us about what’s going on with the whole thing. And to be completely honest, ever since we found out our other son was not a match for Kyle, we’ve been hesitant about the whole thing.

To be honest, I know in my heart that if we proceed with the transplant we’re going to lose him. The odds just aren’t good that he’s going to survive it, let alone actually be cured from it.

It would be a little different if they told us that by doing the transplant, he has like a 95% chance of being cured of his disease. But they can’t say that. They have no numbers to give us. Heck, even if he does survive the grueling transplant, it may not do a damn thing. He disease could remain completely unchanged.

This is why the whole thing is so very hard for us to decide. People keep wondering when it’s going to happen, why we’re waiting, saying they would do it right away…but until it’s your baby’s life that you hold in your hands, you have no idea what it feels like to be in our place.

You have no idea what it feels like to know with all your heart that if you go through with it, you’re going to regret it for the rest of your life. Because that’s how I feel. I know if we do it, we’ll be saying goodbye to Kyle.

Yes, we’ll likely have to do it someday in the next few years, but not today. Maybe if we’re lucky, not ever.

But I cannot kiss my happy, growing, developing, sweet little boy goodbye right now. I cannot put him through chemotherapy and make him so very sick, and then put him through a transplant that has little to no chance of working.

I can’t do it right now. I don’t want to do it right now.

Tags: Gaucher Disease, gaucher disease treatment, gaucher disease type 3, gaucher treatment

Oops, forgot to mention…

Posted by Melissa | Filed under Gaucher Disease, Treatment

Yesterday when I posted about Genzyme halting production on the medication that Kyle takes to treat the physical symptoms of his disease, I forgot to mention why…

They reason they have to halt production is because the plant in Boston has to be decontaminated due to a virus, so there really isn’t anything anyone can do about it. So this means that the drug is going to be rationed.

Gosh, I hope Kyle is still going to get what he needs.

Tags: gaucher treatment

Genzyme Halts Production – Kyle’s Treatment May Not Be Available

Posted by Melissa | Filed under Uncategorized

I just got word that the company that makes the Cerezyme treatment for Gaucher disease, has halted production in the one and only plant where treatments are made.

According to Genzyme, current inventories of Gaucher disease treatment Cerezyme are not sufficient to meet global demand. The plant will not return to full operation until the end of July, with expected shortages beginning in August and inventories stabilizing by year end.

This is terrible news, and I’m praying that enough Cerezyme was ordered for Kyle so his treatments will not be effected. I emailed Kyle’s doctor in Toronto asking about it, so I’ll post when I hear something.

If his treatments are stopped because of a shortage, we’re going to be back at square one, and my sweet little boy is going to suffer. Without treatment every two weeks, Gaucher cells will continue to build up in his liver, spleen, bones, and other major organs. His platlets will drop and so will his appetite, and he’ll feel awful – again.

Worst case scenario is that shortages begin in August and Kyle’s treatments are halted, which means he may go without treatment for possibly 4 months if inventory stablizes by the end of the year. Which is why I’m praying that there has been enough Cerezyme ordered for Kyle to keep him going for the next few months.

I’ll post an update when I know more.

Tags: gaucher treatment

Time To Get Kyle Some More Help

Posted by Melissa | Filed under Appointments, Gaucher Disease

It’s no secret that Kyle is developmentally behind, and with his first birthday fast approaching, I think it’s time to get him some real help so he can get on track.

When I spoke to one of Kyle’s specialists about physical therapy and the like for Kyle, he said we could look into that if we wanted to, but suggested we just wait and see how treatment does. Typically, he can and will catch up with treatment, but there’s no reason why I can’t help him along.

My sister-in-law works at our local health center, and she told me about a program called Pathways and suggested that I look into it after I mentioned my concerns to her.

Well this morning, I finally did, and I am surprised by how many programs they have available for children with special needs. So I sent an email off to the early years department explaining Kyle’s situation and asking how I go about getting Kyle started in their programs.

I really think he will benefit from Occupational Therapy, Physiotherapy, as well as some of the others. There’s only so much I can do with him, and because I really don’t know what I should be doing to help him make progress, it’s time to find the right people who can.

I will post an update once I hear back from someone

Tags: Gaucher Disease

Treatment

Posted by Melissa | Filed under Thoughts From Mom, Treatment

I’m really amazed at how quickly and effectively the Cerezyme treatment is working. It’s not just his tummy that is getting smaller, but is disposition is better.

Kyle has always been an easy, happy baby, but since he started treatment there’s an even deeper contentment. It’s hard to explain this change. But from what adults who suffer from GD Type 1 (the non-neuronopathic type) have said, they felt awful before treatment.

Kyle isn’t able to put the way he feels into words, so you don’t ever really know how awful he feels. And the thing is, he’s been suffering from the effects of this disease since he was like 3 months old, so he doesn’t know that you can feel any different. Living with this, is all he knows, so he deals with it.

But now that he is getting treatment for the physical aspects of his disease, he’s finally feeling the way he’s supposed to feel, and it shows.

His development has been progressing too. Where he couldn’t really crawl before, he’s getting around using his knees and arms. And what I never noticed until after his treatment, was that the size of his belly was actually preventing him from keeping his knees on the floor. Now that his belly is smaller, it’s easier for him to use his knees to get going.

His appetite has increased, and I can see his face filling out. Just the other day he ate 3/4 of a 7.5 oz jar of strawberries, and then 10 minutes later he polished off an 8 oz bottle. I couldn’t believe it! And I’ve noticed that for the past couple of nights he’s been drinking 8 oz of milk, as opposed to the usual 4-6 he usually drinks at one time. This is great news!

I’m working on getting him to eat more foods. We’ve done toast with butter, and though he can pick it up and take a bite, his bites are too big…so I break off small pieces and put them in his mouth and he eats them. He’s still a stinker about what baby foods he’ll eat. He only likes strawberries and blueberries, but I can’t really blame him because most of the food taste like crap, lol!

He’s also talking more. More baby babble and plenty of “dadada”. I’ll even ask him where “dadada” is, and he’ll look around to find him, and when he does, he breaks out into the mother of all smiles. There’s a new light in his eyes that wasn’t there before. It’s like he finally feels well enough to really live.

You know that awful feeling you have with the flu, and you just don’t want to do anything but lay around and sleep…now imagine if you felt that way 24/7. That’s kinda like how all these kids with Gaucher Disease Type 2 and 3 feel without treatment; they adapt and deal with is so well because it’s all they know, so it’s hard for anyone to really know there’s anything wrong with them.

Tags: gaucher disease treatment

Finding Treatment and/or A Cure

Posted by Melissa | Filed under Gaucher Disease, Research

It’s a reality that very few people are looking for a treatment or cure for Gaucher disease types 2 and 3. The few that are, can’t really do much because of the lack of funding. And that means that children are going to keep dying from this disease – mine included.

Which is why myself and a few other moms are determined to find something to save our children. We’re working to raise money to pay a research team to work specifically on GD 2/3, and with the help of various Gaucher organizations, we’re going to do just that.

I think of all the children with Gaucher Disease Type 2 and 3 as the “forgotten children”, because they don’t even have a fighting chance. Unlike cancer where they have things that can be used to beat the disease, there is nothing to give the kids with GD 2/3 a fighting chance to beat and survive this disease. Nothing…

And to think that we were so relieved when they told us that Kyle didn’t have cancer last October when he was hospitalized for testing. If I we only knew…

Now as awful as it is for any child to have to suffer through cancer and I don’t wish it on any precious child; an article from the American Cancer Society states that childhood cancers are mostly treatable. In fact, according to a study, 97% of patients achieve complete remission.

So is it any wonder that I wish Kyle’s diagnosis had of been cancer, that he had of been given a 97% survival rate? And because he would have been diagnosed at 3 1/2 months old, they would have caught it so, so early. I mean, by now his treatment could have been done and over with, he could be in remission and living a normal life.

Instead, he was diagnosed with Gaucher Disease Type 3 with a 0% survival rate.

But imagine if the same funding and research that goes into Cancer, went into rare diseases like GD 2/3. And it’s not only this disease that would benefit from research, but so many other diseases that effect the brain – like Parkinsons, which is linked to GD 2/3 and has so many similar symptoms.

Back to putting together a research team…I’ve already started organizing an online fundraiser to raise money for research, and I’ve been blown away by the response. It’s really starting to snowball as people I know and work with online jump onboard, and tell others.

Which means, I’m formally registering my charity ”Neuronopathic Gaucher Foundation” and 100% of money raised and donated with go directly to research. That way people who donate can claim it on income tax, and the charity won’t have to pay taxes on the money raised.

Carrie Ostrea is working directly with the National Gaucher Foundation in the US to get a formalized research plan and structure together. The concept is to attempt to create an umbrella with all the Gaucher organizations and other related diseases, and get them to work together and create a common point where all the research information is kept updated, and work on finding research that could make a difference for the kids who are here today, still fighting.

And I’ve been talking to the president at the National Gaucher Foundation of Canada with hopes of getting their help, and I also have an upcoming meeting with a PR gal to work on spreading the word and getting the attention of the media.

I can’t just sit back and let my sweet little boy die without a fight. No one is going to step up to the plate, and save all these kids who’ve been forgotten because their disease doesn’t effect hundreds of thousands. Does that make it right – to just let all these children die because there aren’t enough of them?

I mean come on, we’re in the 21st century for goodness sakes. They can do open heart surgery on a fetus still inside the mother’s womb, but we can’t find a treatment to kill off the Gaucher cells that live in brains of these children, stealing their lives? If only they could just inject the enzyme replacement therapy directly into their brain…

Researchers believe they have found genetic cause for Parkinson’s disease

Posted by Melissa | Filed under Research

Article Source: http://mdn.mainichi.jp/mdnnews/news/20090513p2a00m0na010000c.html

A team led by Shoji Tsuji of the University of Tokyo, and Tatsushi Toda of Kobe University discovered that those with a mutation in a gene called GBA are 28 times more likely to contract Parkinson’s disease. They now hope to use their finding to explain exactly how the disease is caused, and develop a treatment.

There are an estimated 150,000 cases of Parkinson’s disease in Japan. In 90 percent of the cases, however, they are the only members of the family to contract the condition, and the genetic component of the disease has never been identified.

However, the team noticed that the GBA gene, which is responsible for causing an unusual condition called Gaucher’s disease, also showed a mutation in those with Parkinson’s disease.

They examined 534 Parkinson’s patients and 544 healthy people, and found that 9.4 percent of those with the mutation suffered from the disease, and just 0.4 percent did not. They also discovered that those with the GBA mutation contracted the disease around six years earlier than those without.

“It’s the first time that a risk factor has been this clearly identified,” said Tsuji.

Tags: Gaucher Disease, genetic, Research

Changes after just 5 days?

Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Treatment

It’s been a crazy week around here, so I haven’t had a chance to update in a few days…

I can’t believe that Tuesday Kyle goes in for his second round of treatment, already. The time flew by, and I’m glad for that. I truly believe that his first session has already caused changes in his body, and it’s not just a mother’s wishful thinking either. Others who don’t see Kyle on a daily basis have noticed a difference.

Just 5 days after his first treatment, I noticed that his tummy is smaller and softer. I am amazed!! So I’m hoping for more results after this next round of treatment.

Will We Ever Get One Without The Other?

Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Treatment

I swear that since Kyle’s medical issues began last October, there has never been a good thing without a bad.

As mentioned earlier today, Kyle received his first Cerezyme treatment yesterday and it was such a good thing. I am so happy that he is finally getting the medication his body so desperately needs to begin healing the physical symptoms of this disease (except, sadly, his neuro issues), but, of course, with this good moment we got a bad one.

One of Kyle’s doctors stopped by during treatment to speak with me and see how Kyle was doing. Unfortunately, she gave me the bad news that none of us, his brother included, is a bone marrow match for him. My heart broke even more…before long, I’m not going to have heart left…

If there’s good news, there’s bad…at least that’s what it feels like. And you know, now that we know our other son is not a match for Kyle, we’re not so sure we want to go through with the transplant. Kyle’s best chance was through a sibling donor because it lowered the risk of rejection, but now that this isn’t going to happen, I’m having doubts.

We were ready to take this huge medical leap and put Kyle’s life into the hands of doctors to let them do a very risky procedure, all without a guarantee that this was going to do anything for his disease.

They can’t tell us that by doing the transplant that it will put a stop to, or reverse his neurological effects (which at this point is just his rapid eye movement, or lack of), in fact, they can’t really promise anything.

But because we were so hopeful that Kyle’s brother would be a match for him, we were willing to take that chance because we believed that giving him back a healthy genetic make-up that is as close to his current DNA as possible, was his best shot.

Or course, a sibling match just couldn’t happen for us could it? Why not pile another crappy thing onto the pile of crappy things Kyle and this family has been subjected to for the last 7 months?

Why the hell can’t something go our way for a change? Why do we have to give back our baby when we just got him?

I’m terrified that we’ll do the transplant and he won’t make it. That we’ll lose him long before we have to.

Because maybe we don’t have to lose him at all. With all the research being done, maybe a treatment or cure will come sooner then expected and Kyle will be saved. Maybe he’ll be the kid who lives well into adulthood, enough time for them to find a cure.

Considering Dr. Oz was on Oprah (with Michael J. Fox as a guest) a couple of months ago saying that they WILL be able to use stem cells to cure diseases like Parkinsons by injecting the stem cells directly into the brain where it’s needed. And get this, he said this will happen in less then 10 years…so I mean, 2 years from now this could be a reality.

But that’s the thing, we just don’t know. We don’t know, no one knows what will happen in the next few years. No one knows how fast Kyle’s disease will progress, no one knows how long Kyle has left – though they gave him 10 years at most with enzyme replacement therapy – nobody knows a damn thing and that’s the worst thing of all.

Not knowing…

First Enzyme Replacement Therapy Treatment

Posted by Melissa | Filed under Appointments, Gaucher Disease, Treatment

Yesterday was Kyle’s first treatment, and it went amazingly well. He took it all like a pro.

He had a bottle of formula after getting his blood work and IV line ready to go, then he fell asleep in his stroller. I left him with the nurse to go and get a coffee, and when I got back they had his cerezyme medication hooked up and going into him.

When I saw that, tears flooded my eyes. My baby was finally getting the medication he needed after dealing with the symptoms of Gaucher for the past 7 months. Finally, something was being done to help him.

Kyle slept all morning, even with the nurses disturbing him to check his blood pressure and heart-rate every 15 minutes. The good news is that he didn’t have a reaction, which I’m so thankful for!!

He woke around noon, I fed him lunch, and then put him in the baby carrier to walk around. We ended up spending the next hour walking the halls while I pushed his IV pole. He was as happy as could be

Once mom was tired of walking, we went back to the room and played with toys for awhile. Then he had another bottle, and eventually dozed off again for pretty much the remainder of his treatment time, lol! I was amazed by how well the day went considering we were there for so long.

We head back in for the second round of treatment on the 26th.

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