SavingCase - Latest Comments

Re: Rare Disease Clinical Trial Recruitment – What’s the Holdup?

Judy Rowe — Mon, 28 Jul 2014 19:14:03 -0000

Brittany had asked the geneticist to check into the trial for her boys and she has never heard anything from her about it. I am so glad she just saw enough things on MPS forums to figure it wouldn't hurt to make a phone call to Dr. Muenzer and see. Two weeks later we are on a plane. So yes, you do have to be advocates for your children or it is just going to be too late.

Re: Right to Try? More like redundant begging.

Jamie Lynn-Brooks Fowler — Tue, 17 Jun 2014 15:13:47 -0000

Boy is Diane Dorman far removed from the reality of having a child or having a rare disease! Sad sad sad. And yes we are not requesting a Queen Mary to pick us up, we just want a lifeboat!

Re: Uncontrollable

Melissa — Sun, 01 Jun 2014 23:28:43 -0000

I came over from Casey's facebook page. Wow, it's so unbelievably difficult. My son has a language disorder, but really it's borderline PDD-NOS. Last year we had to have a cavity filled. Sedation meds did nothing. I was so sore the next morning from holding him down that I could barely get out of bed.

I can't even imagine throwing physical challenges in on top of it all. You are a brave and ferocious mama. One of the chosen ones. It sucks to be chosen, but here we are, huh.

God bless you and your precious little boy.

Re: Uncontrollable

Erica J Thiel — Sun, 01 Jun 2014 22:34:24 -0000

While not a parent I so understand the last paragraph, experienced this very thing in a slightly different setting 2 wks ago, in a setting my nephew has been in with me dozens of times in the past 3-4 years. I also after getting out to my car broke down in tears, not at Zander but at what I could only imagine where people's blind opinions and probable cruel words (it was a small Church event following closing Sun School class and Church so I also should have known better than to expect Zan w his High functioning autism to be able to tolerate a 3rd subsequent event with many people. He had done so good at the 2 previous sometimes I just forget there is autisms ugly rearing head and only look at Zan as Zan though.
I am glad you guys made it through the day and know it doesn't really matter what those other people thought. People need lessons in compassion, not judging and in understanding!
Erica
www.rarelydefined.blogspot.com

Re: Uncontrollable

Casey — Sun, 01 Jun 2014 22:16:18 -0000

Sweet friend I wish I could say I was better about praying consistently for you and the amazing job that you are doing every day raising those boys. I will be better because flat out YOU AMAZE ME. You handle this life God has given you with absolute grace. Sitting in the car crying after carrying Case out of the office... I once cried because Maddie May would not carry the camera up the stairs because life in the apartment had taken its toll. Perspective. You give me perspective, and a mothering that I can strive for. And after that day, you still had the energy and love to host a house full of 10 year old boys like it was nothing. I am convinced that one of the reasons God gave you Case, is because He was giving Case, and all other Hunters kids, YOU. You with your big mama voice and your huge heart and your tenacity that I could only dream of. I am so proud to call you my friend. You make me a better person just by being an amazing example and I am so thankful for you.

I love your family. I have loved following Case's progress, and I will be better about praying everyday for simpler moments... moments when a doctor's appointment will not have any conflict, days when appointments happen on time without an hour wait, and days that Case does not suffer anymore trauma and his precious mind and body are able to recover completely. Thanks for pouring these words out so we can all be just a tiny bit more aware of what it is like to be the mom of a child who spends WAY more time in a doctors office that the rest of us can comprehend.

Re: Dear child who will never be “normal”

Lisa Gildea Muller — Wed, 29 Jan 2014 12:15:57 -0000

Beautiful, Melissa. You have, again, captured perfectly everything that is in my heart and mind.

Re: Is there a formula of risk tolerance to treat rare diseases?

Jeff Denneen — Tue, 07 Jan 2014 09:39:52 -0000

VERY complex topic as it is not purely an analytical decision but also an emotional one. Fear really plays a part in driving the decisions most people make, particularly when it comes to their children's health. Not sure how you'd factor that in. That said, however, I'm a very analytical person and did actually put some analysis into our treatment decisions (along with heavy doses of judgment and faith). I looked at each treatment option and its potential outcomes. I assigned probabilities to each outcome (efficacy, lifespan, quality of life, risk of complications) to arrive at an expected value. I then factored in the probability of being able to receive each treatment option, the timing of receiving that treatment, and the expected time to benefit. Given the progressive nature of MPS II, the timing elements were really important. Finally I looked at the quality of life impact for our son, our other children and my wife and me for each treatment option. It took several months to gather all the relevant information, speak to the experts, and arrive at a decision. We ended up taking what many would consider a very high risk path, but after considering all the factors, it was not the highest risk option given our situation.

Re: AIM-IT: Phase III trial for Idursulfase IT

Cetin Tamturk — Tue, 07 Jan 2014 07:41:54 -0000

Thank you Melissa, do you have e-mail address of Mr. Muenzer?

Re: Is there a formula of risk tolerance to treat rare diseases?

Melissa J. Hogan — Mon, 06 Jan 2014 13:38:43 -0000

Here is an interesting analysis of risk in the context of rare, degenerative disease performed by PPMD. http://www.parentprojectmd....

Re: AIM-IT: Phase III trial for Idursulfase IT

Melissa J. Hogan — Mon, 06 Jan 2014 13:11:28 -0000

Cetin, I think that might be up to the individual investigators. My advice would be to identify and call them, maybe starting with Dr. Muenzer, to find out if they are willing to evaluate and admit from overseas. I know the language restrictions will eliminate some, but if those are met, maybe they would consider? Let me know what you find out!

Re: AIM-IT: Phase III trial for Idursulfase IT

Cetin Tamturk — Mon, 06 Jan 2014 13:03:13 -0000

Hi Melissa,
Is there any info if trial recruits from oversees?
Regards

Re: Is there a formula of risk tolerance to treat rare diseases?

Carolyn Marie Keeney — Mon, 06 Jan 2014 12:37:36 -0000

As the parent of a child with Hunter Syndrome, I have thought many times over the years about risk of the unknown (what I would find an acceptable risk were a clinical trial for a new treatment to be offered to us) versus risk of the predicted disease path. At the root of my decision, is a base formula that would be very similar to the one pictured. As I sit with an indescribable feeling of helplessness and watch my only child enter the age range of the average age of death for a child with Hunter Syndrome, and I watch the impact that the disease has on his quality of life, my risk tolerance climbs higher. When he was first diagnosed, my risk tolerance was much lower because in the denial of my mind, there was still uncertainty as to his prognosis; but, within two years time I would say that my risk tolerance had doubled when factoring in exposure to other children affected with his disease, a better education about the disease process, and his current impact of the disease. Since that time, it has grown even higher...

Explain to me the risks; explain to me the possible benefits should I choose to accept those risks; explain to me the documented and predicted outcomes should I choose not to take the risks. Allow me to put the factors through my formula and decide for myself if it is worth it.

Re: Is there a formula of risk tolerance to treat rare diseases?

Leslie Phillips — Mon, 06 Jan 2014 11:32:58 -0000

The primary consideration is that balance everyone hates to discuss: quantity versus quality of life. Of course, with an investigational treatment, there is the inherent risk of reduction in both...or the potential for an increase in both.

The model of pediatric palliative care is one that focuses on the highest quality of life for the duration of life. Ideally, with a terminal illness, this should begin at diagnosis. When you have a rare disease with no (or limited) treatment options that generally leads to a dramatic decrease in the expected quantity of life, I agree that families (and the patients themselves, as appropriate) are more apt to have a higher risk tolerance, and understandably so.

When you witness abrupt, rapid progression of disease, significant clinical change, and experience personal events (either witnessing changes in another patient, own life experiences, etc.), it seems more likely that you will take increased risk. I like the model, even though it is difficult to predict the nature of the disease specific factors.

A large part of the FDA discussion this morning revolved around endpoints. For each patient and family, these vary; however, I believe it is important to discuss the markers that demonstrate measurable progress. Yes, this is something involved in a natural history study, but the prescribed endpoints may or may not be the things important to the patients.

So, my expansion of this question is about what people think are the critical markers/endpoints for their families/patients/children?

Re: My New Year’s Resolution is…

Jamie Lynn-Brooks Fowler — Sat, 04 Jan 2014 14:05:29 -0000

I just LOVE those pjs on Case, too flipping cute!
so confident in wanting to be a fireman!
Brightened my day!

Re: OPEN LETTER to Dr. John Leong Chi-yan and the Hong Kong Hospital Authority re: Access to Idursulfase for the Tang brothers

Cheryl Garris — Tue, 26 Nov 2013 22:02:10 -0000

Very well written. Yes, please allow these gentlemen access to Elaprase. It has made such a difference in my sons life! It has saved his life in fact.

Re: Why I don’t unplug (and don’t feel guilty about it)

Sweetly — Thu, 19 Sep 2013 17:08:54 -0000

Yes! Well said, Melissa. As a Multiple Sclerosis patient, MS advocate/consultant/blogger, social media has brought me friends, info, support, a place to build my research and advocacy skills, professional networking, and opportunities to build a new career in health advocacy. I couldn't have done all that without getting plugged in, and can't maintain it without staying plugged in. I'm disabled and retired, the internet is where it all happens for me. You won't hear me knocking it, either.

Re: Why I don’t unplug (and don’t feel guilty about it)

marianne vennitti — Thu, 19 Sep 2013 16:41:05 -0000

Well said Melissa. It is rare that I unplug for all the same reasons. When you have worked to find rare disease patients around the world with the same disease you are living with, create a community for them to share experiences and knowledge, work on networking to find doctors and researchers that may be a post away, follow the latest research for your community, support numerous patients networks for your diseases it is tough to unplug. I tell myself all the time that it's too much, take a break, someone else will do it. Just when I've convinced myself it's time to unplug I get an urgent message that someone needs help. The thought of myself in despair feeling so alone and scared, when I was first diagnosed, is still fresh in my mind when SM for Rare Diseases wasn't what it is today. Letting that one person sit through another night without answers and support is much to much for me to let go of. So many nights, I see the light on my phone flicker as I begin to fall asleep and know that it must be someone who needs their hand held. Can I go to sleep knowing someone is living my nightmare? I don't think so. No I didn't ask for this job, this vocation but it was placed before me and I said yes. God prepares us for the journey ahead of us and I am prepared to do what I must for those he has entrusted in my circle of life. So just for today, I'm plugged in.

Re: What is Compelling Evidence? The mother frogs speak

MatthewsMommy — Sat, 24 Aug 2013 22:22:01 -0000

I am a mother frog in waiting. I want to see my son have a chance to do the things that other children do. To play like they play. To be able to take him places and not always live in fear of him running or hurting himself or others. I want to hear my child's voice...one word, I would be satisfied with ONE single word. I don't even care what word it is. Just a word so that I know what his voice sounds like!! I would love to see him gain simple skills that others take for granted. Using a spoon/fork, learning colors, shapes, letters, and numbers. Or at least to keep the few skills that he was able to obtain before this horrible disease started to take ahold of his brain. I would love my son to just "simply" hug me as opposed to hug me and slap me upside my head to show his affection for me...LOL
When I hear the words 3-5 years concerning this trial, my stomach gets sick. Matthew turns 5 next month and is in the severe category of this disease. 3-5 years sounds like a lifetime to me, its 3-5 years that my son does not have!!!

So, would I give my child something that "could" hurt him in the long run or "could" help save his life, without knowing for sure which it is? I would do it in a heartbeat. What do I have to lose. My son already has a death sentence, there is no "could" about it. Without some type of treatment my son is going to die.

I would do anything to save Matthew.

Re: What is Compelling Evidence? The mother frogs speak

Carolyn Marie Keeney — Sat, 24 Aug 2013 08:07:13 -0000

Several years ago I heard a question asked from a room of research doctors to a panel of MPS parents: What mortality rate on a drug would be an acceptable risk for you to still pursue getting this treatment for your child? And what percent would make you say "No thank you. Science has brought us this far, so I will hold on and wait."

The answer that was given and that I believe ring the most true is "It depends".

It depends on how old my child is when you ask me in comparison to his life expectancy. It depends on how severely my child is currently affected (which, in part, goes with how old they are). It depends how early in diagnosis we are, and how much exposure I have had to other children of this disease. Lets face it... you can read what will happen to your child, but TRULY seeing the impact it has on other children in person and getting that glimpse of your child's future is... I don't even have words to describe what that is.

Re: What is Compelling Evidence? The mother frogs speak

Beth — Fri, 23 Aug 2013 20:10:47 -0000

I had heard about mps a long time ago ,I never met anyone with it until case .I met case 1 and 1/2 years ago at school were I took a job to be his aide. I will never forget that first meeting with case ,I met him at the car rider line and I had to hold on to him with both hands as I got him out of the car he was trying to run to the door, back to the car, kiss his mom goodbye ,open the door and get back in tripping twice as I am still holding his hand with both of mine along with his back pack, and everything else he brought.. This wasn't a five min period of time it was all at once He was Everywere !! Jump forward to this summer I had the pleasure of taking care of case and yes he is still very active what 6 year old boy isn't but at the same time there is a calm he was able to go for walks with me not runs ,and focus on one thing at a time for a much longer time .I just don't understand why more kids cant get help whose to say it wouldn't work ,you can only say that if you try and as a parent it is our job to try everything shouldn't it also be the drug companys job!!!! I pray for case and all the children will get the meds they need ..

Re: What is Compelling Evidence? The mother frogs speak

It's Me & Ethan — Fri, 23 Aug 2013 15:22:03 -0000

I feel the exact same way,my son is 11 too, its so hard to hear the success of the drug. and so unfair ,yet its hope,mine is sadly fading xx

Re: What is Compelling Evidence? The mother frogs speak

It's Me & Ethan — Fri, 23 Aug 2013 15:10:26 -0000

My son has hunters too,we are in Ireland. I see him every day loosing skills...I'd give my life so he could have a chance at his.

Re: What is Compelling Evidence? The mother frogs speak

Kathy Gray — Fri, 23 Aug 2013 14:36:56 -0000

There isn't anything I wouldn't do or try to do for one of my kids. I am oh so thankful that they are both healthy and do not have to fight for every bit of medicine that could help them. I am fortunate that when Myles needs a refill on his prescription, I just call up the doctor and I either have to pop in for a check up or run down to Walgreens for a refill. I can't imagine the hoops that these mothers and their boys have to go through to get the medicine that is so clearly helping. The improvements I see in Case are amazing. His motor skills have improved, his speech has improved...I could go on and on. Anyone who is able to take this drug should be allowed the opportunity for it.

Re: What is Compelling Evidence? The mother frogs speak

Carolyn Marie Keeney — Fri, 23 Aug 2013 14:31:29 -0000

My son is 11yrs old and has MPS II. For the last three and a half years, I have been watching a select few of my friends take their boys to be given this drug. A drug that my child was deemed to sick to be given. I have sat back and cried as these few friends tell their miraculous stories of not just stability, but improvement. I cry while I watch their children flourish, as my child grows more and more weary. I cry as my son endures surgeries that this drug could have prevented the need for. And I cry because I feel like what I am asking for is something so simple that I don't understand why my cries go unanswered. All I want for my son is to have a fighting chance at doing something that other kids all over the world get to do every day... I want to give him a fighting chance to grow up... and I will accept the risk involved with that. When comparing the options of doing nothing and and ending up with: progressive and traumatic health problems; chronic pain; seeing my son go from a vibrant, active, loving little boy to a sedate, check out from the world, shell of a person; and certain death at a startling young age... OR taking a chance on a promising, though still young and "experimental" drug with many longer term unknown for side affects... I will take my chances and say please let him have this drug!!!

Re: What is Compelling Evidence? The mother frogs speak

Beth — Fri, 23 Aug 2013 14:23:30 -0000

Who is one to say what is compelling evidence and what is not? I have seen a tremendous change in Case in all aspects. 2 years ago, he would hardly speak and had trouble walking. Now, he calls me Ms.Beth and runs and plays with my child.
I have seen the miracle that this drug has been to his life and also to his family.
Can't there be some loop hole, some way for families to sign a waver and get this life saving drug??? I know that the pharm company just wants the "perfect" candidates so their drug will have a higher chance of approval.....but who should determine the "perfect" patient? How about giving the drug to everyone interested and changing their lives forever! Then you will see the huge impact and so will the FDA. So much time is lost in this country in drug trials and trying to protect everyone. I believe patients should be able to make an informed decision after receiving available info. Sure, the FDA serves a purpose and helps protect patients but it also delays life saving meds due to red tape and 'compelling evidence' arguments.