Sunday, February 27, 2011

Maggie Agnew

I first learned about this little girl, only eight days younger than my youngest, reading an article online about her mystery condition causing her to have such difficulty with growing. I felt instantly connected to Maggie and her family for so many reasons, and the "it might be mito" thought crossed my mind. I wondered if they were working with the same doctors we were, getting the same non-answers we were. And they were. It took about two years for Maggie Agnew to finally see a doctor out of state who specializes in Mitochondrial Disease to perform a muscle biopsy that would show Maggie had Mitochondrial Disease. By this time, the disease had progressed significantly. Only seven and half months after that diagnosis, Maggie Agnew has died. Please keep the Agnew family in your thoughts and prayers at this difficult time, and for the difficult days, weeks, months (and even years) ahead as they go through grief's journey.

Wednesday, February 23, 2011

Utah Capitol - Friday, February 25th at 8 a.m.

UPDATE on previous post


HJR35: Utah Mitochondrial Disease Awareness Week Joint Resolution has been put on the agenda for
Friday, February 25th - 8 a.m.
25o State Capitol, Utah State Capitol Complex


We are getting further along in the process to have an official Mitochondrial Disease Awareness week in UT during the week we are planning the Energy for Life Walk.

You are invited to attend and show your SUPPORT for HJR35! If you are unable to attend, please take a moment to email the committee members. Contact them in advance of the meeting and ask them to support the resolution. If you have a personal story relating to Mitochondrial Disease, include it. You might even like to include a photo. Remember to stay positive and polite.

Senate Health & Human Services Standing Committee:

"Sen. D. Chris Buttars, Chair" dcbuttars@utahsenate.org,
"Sen. Allen M Christensen" achristensen@utahsenate.org,
"Sen. Patricia W Jones" pjones@utahsenate.org,
"Sen. Mark B Madsen" mmadsen@utahsenate.org,
"Sen. Stuart C. Reid" screid@utahsenate.org,
"Sen. Luz Robles" lrobles@utahsenate.org,


Thanks to everyone for the help, whether it is contacting Legislators or coming up in person. I truly am excited to see the way citizens can come together and have such an influence in our community!

During the House Committee meeting on this Resolution, Sean and Michelle Agnew were able to bring in their 2 year old daughter, Maggie - who has been diagnosed with mito- and share insights of how devastating Mitochondrial Disease can be. The progressive nature of mito is really taking a toll on Maggie. Please keep the Agnew Family in your thoughts and prayers, as increasing support for affected individuals and their families is one purpose for having this Resolution.

If you are looking for another way to be involved, and the legislative process is just too intimidating, consider helping with the SAM project, in honor of Samuel McCluskey who died March 26, 2008, of mitochondrial disease .

Tuesday, February 22, 2011

On to the Senate Health & Human Services Committee

HJR35: Utah Mitochondrial Disease Awareness Week Joint Resolution has been through the House Health & Human Services Committee and passed the House Floor. Now it has been assigned to the Senate Health & Human Services Committee. It is not on an agenda yet, so I'll have to update later about when you can be at the Legislature to show your SUPPORT for HJR35.

Could you please take a moment to email the committee members?
Contact them in advance of the meeting and ask them to support the resolution. If you have a personal story relating to Mitochondrial Disease, include it. You might even like to include a photo. Remember to stay positive and polite.


Senate Health & Human Services Standing Committee:

"Sen. D. Chris Buttars, Chair" dcbuttars@utahsenate.org,
"Sen. Allen M Christensen" achristensen@utahsenate.org,
"Sen. Patricia W Jones" pjones@utahsenate.org,
"Sen. Mark B Madsen" mmadsen@utahsenate.org,
"Sen. Stuart C. Reid" screid@utahsenate.org,
"Sen. Luz Robles" lrobles@utahsenate.org,

I want to also thank Rep. Ken Sumsion and Sen. Howard Stephenson for being the sponsors of this Resolution. I appreciate their willingness to help move forward a Resolution with such an impact for families in Utah who are affected by this condition. One family in particular, Sean and Michelle Agnew, have even involved Maggie in presenting this bill to the Legislature, giving legislators a glimpse at how devastating Mitochondrial Disease can be. I encourage you to continue to support the Agnew Family, as well as the efforts to have this bill passed during this session.

You may notice that many of our Mito Mates on the sidebar are also facing difficult circumstances related to the progressive disease. There seems little that can be done to really help in such times, except perhaps pray. This is one reason I hope to see this Resolution gain full support of the Legislature, and that it's impact will be to encourage citizens all over our state, and others, to learn about Mitochondrial Disease, work in their community to support those affected, and perhaps even increase the funding for research that will lead to resulting improvements in testing and treatments.

I would like to also mention Andrew Davis, who has been very helpful to keep me informed on the progress of the bill, and given me insights about what each new development means and what to expect as the bill progresses. He is interning for Rep. Biskupski, and even with being so busy has taken time to be concerned about this Resolution and those of us hoping to see it through the legislature before the session ends. Thanks, Andrew!

Friday, February 18, 2011

Utah's HJR35 Update - One Step Closer!

Monday was a big day for HJR35! Things turned out well after presenting the bill in committee. Thanks to those on the House Health and Human Services Committee who voted unanimously to pass HJR35 out favorably! It also was unanimously recommended to go on the Consent Calendar. That moved it more quickly to the House Floor, where it was heard today and passed (with the only dissenting vote from Rep. John Dougall and 8 absent).

Now to see how quickly it goes from here. Not sure if it will be assigned to a Senate Committee or if it will go to the Senate floor next. Sen. Howard Stephenson has agreed to sponsor it once it gets to the Senate.


For those following from Utah, if you haven't already asked your Senator to support the bill, please kindly do so ASAP!


You can find your Senator using this tool: http://le.utah.gov/GIS/findDistrict.jsp

To all who have taken time to contact legislators, thank you! This is exciting progress in helping bring more awareness about a very difficult condition. I appreciate that Sean and Michelle Agnew took time to bring little Maggie to the committee meeting to help the Committee see first-hand how devastating Mitochondrial Disease can be. For Maggie, and all other families in Utah, this resolution will help others learn more about Mitochondrial Disease, and encourage support as they deal with the decline that comes with this disease. Mito is a progressive disease, meaning that the severity of symptoms and the effects progress over time. Maggie is struggling, and if you have a moment to offer a quick prayer, it can't hurt.

Friday, February 11, 2011

Utah Capitol - Monday, Feb 14th at 4 p.m.

UPDATE on previous post

HJR35:
Utah Mitochondrial Disease Awareness Week Joint Resolution has been put on the agenda for
Monday, February 14th - 4 p.m.
25 House Building, Utah State Capitol Complex

It is the last item on the agenda, so hopefully it will be addressed before the committee runs out of time and adjourns. You are invited to attend and show your SUPPORT for HJR35! If you are unable to attend, please take a moment to email the committee members. Contact them in advance of the meeting and ask them to support the resolution. If you have a personal story relating to Mitochondrial Disease, include it. You might even like to include a photo. Remember to stay positive and polite.
House Health & Human Services Standing Committee:

"Rep. Paul Ray, Chair" pray@utah.gov,
"Rep. Evan J. Vickers, Vice Chair" evickers@utah.gov,
"Rep. Ronda Rudd Menlove" rmenlove@utah.gov,
"Rep. Rebecca Chavez-Houck" rchouck@utah.gov,
"Rep. Tim M Cosgrove" tcosgrove@utah.gov,
"Rep. Bradley M Daw" bdaw@utah.gov,
"Rep. Dean Sanpei" dsanpei@utah.gov,
"Rep. Christine F. Watkins" cwatkins@utah.gov,
"Rep. David Clark" dclark@utah.gov

Thanks to everyone for the help!

Wednesday, February 9, 2011

Resolution in Utah Legislature - Your Help Requested

Utah friends (or if you have friends in Utah you can pass this on to)-
I ask you to contact your legislators to ask them to SUPPORT HJR35: Utah Mitochondrial Disease Awareness Week Joint Resolution.
(To find your elected officials, go here: http://le.utah.gov/GIS/findDistrict.jsp.)


UPDATE (2/10):
The Resolution has been assigned to a Committee! It is not yet on an agenda, but will be considered by the House Health & Human Services Standing Committee. If you would like to contact these members and ask them to pass HJR35 out with a favorable recommendation, use this email list:
"Rep. Paul Ray, Chair" pray@utah.gov,
"Rep. Evan J. Vickers, Vice Chair" evickers@utah.gov,
"Rep. Ronda Rudd Menlove" rmenlove@utah.gov,
"Rep. Rebecca Chavez-Houck" rchouck@utah.gov,
"Rep. Tim M Cosgrove" tcosgrove@utah.gov,
"Rep. Bradley M Daw" bdaw@utah.gov,
"Rep. Dean Sanpei" dsanpei@utah.gov,
"Rep. Christine F. Watkins" cwatkins@utah.gov,
"Rep. David Clark" dclark@utah.gov




We are still unsure about the cause of death for Dominic and Bridget, but it is believed they died due to an underlying Mitochondrial Disease. It is also thought that this is contributing to the health problems that have resulted in hospitalizations for our other children. The field of mitochondrial science is relatively new, but has evolved quickly. Discovery is happening at a rapid pace, and more understanding about impaired mitochondrial function resulting in Mitochondrial Disease is bringing more testing and treatments.

But the testing is still quite expensive (the latest test we've considered is $15,000 - and NOT covered by health insurance), invasive (the typical recommendation for someone suspected to have a mitochondrial disease is to have a piece of muscle surgically removed from the thigh), and still new enough to be quite inconvenient, with only a handful of labs across the country capable of processing samples and interpreting results. There is yet to be an FDA approved treatment, though there is promising research that may soon lead to this.

Many have never heard of Mitochondrial Disease, but studies are indicating that many diseases we are familiar with - like cancer, diabetes and autism, for example - may actually be attributed to a mitochondrial dysfunction. More research and discovery in mitochondrial science will not only help those with classified Mitochondrial Disease, but has promising hopes of giving us better understanding in other more commonly known health challenges.

We have been working in many ways to increase awareness of the symptoms and affects of Mitochondrial Disease, with hopes this will result in more interest for funding and research to accelerate discovery that will lead to improved testing and treatment. Currently, the Utah Legislature is in session, and has a bill to consider that would designate the first full week in September as Mitochondrial Awareness Week:

http://le.utah.gov/~2011/htmdoc/hbillhtm/hjr035.htm

That is the week which coincides with our efforts to organize an Energy for Life Walkathon, planned to be held on Saturday, September 10, 2011. I hope that you will take time to contact your Representative and Senator and ask them to SUPPORT HJR35: Utah Mitochondrial Disease Awareness Week Joint Resolution. To find your elected officials, go here: http://le.utah.gov/GIS/findDistrict.jsp.



Feel free to forward this information and request to anyone in Utah who would also be willing to contact their elected officials. I hope to have more information coming about the Energy for Life walk, if you'd like to be a part of that. Thank you for your time on this matter that is quite personal to us, even though we are still uncertain. We feel that more research and understanding about Mitochondrial Disease will ultimately make finding the right diagnosis for families like ours less difficult, costly, and frustrating.

Wednesday, February 2, 2011

Mito Mates


I have been adding links on the sidebar to blogs where mitochondrial disease is a topic the blog author is familiar with. Most of the blogs are primarily dedicated to updates about an individual or family who has been diagnosed, and struggles with the various complications mitochondrial disease brings.

There are many children, and even adults, struggling with a complex and complicated, sometimes difficult to identify and diagnose, form of mitochondrial disease. When I read the updates when a child is in another crisis situation, it makes me hope with all hopes that their crisis is abated and that there is more time for the testing and treatments that are being developed to be a help to them. That in the meantime, whatever tools the medical community has can keep them alive and minimize any more trauma or progression of the disease. I sometimes read how time and again the crisis is overcome, and I have a sense of relief, though never satisfaction.

These blogs sometimes make me wonder if Dominic and Bridget were affected with some other complication, because so often the hospitals and doctors seem to be able to stabilize the situation until another crisis comes up. We only had one big crisis event with Dominic and that is all, and they didn't survive. Only one big crisis event with Bridget, also, and she did not survive. If they really had mitochondrial disease, wouldn't they have been helped like so many of these other children I read about are helped? Wouldn't we have had a little more time before the disease progressed and took them away? With so many tests we have had without answers, I just have to wonder that though it might be mito, what else might it have been? And what else could it be affecting others of my children and even myself?

The uncertainty, whether diagnosed or not, makes mitochondrial disease that much more stressful. I related (though we have no diagnosis) to the sentiments expressed in this article: Coping with Mitochondrial Disease - How do you cope with the unpredictable, invisible disease?

I still find talking with other parents who do have a diagnosis to be helpful in deciding what specialists to follow-up with, what tests really are a good idea, how much or how little to do in regards to a certain symptom... I have met more parents, though, who are dealing with the grief of burying their child(ren) than I have met currently trying to manage the disease. That is the most heavy part of the disease, IMHO - that you face the real likelihood of burying a child! That it can affect others that you love! Some of the Mito Mates I have listed have just recently faced this "bad outcome" (and I wish the medical terminology wasn't so clinical about such a sensitive reality for families). Some have had some time, but are still working on finding the genetic "proof" of a clinical diagnosis. Most are hoping to avoid that "outcome" for as long as possible, though for some they're right now in that fight for their life.

I appreciate the willingness others have of sharing their experiences. I am glad that technology that lets me "connect" to people I've never met. I feel I do know some of these people just because I know some of the things they've been going through and are going through. But I admit that meeting someone in person makes a real difference to feeling truly connected.

I first read about Maggie Agnew on a news station's website, the headline "Little girl's illness baffles Utah doctors." Some of the symptoms this little girl struggled with, and just the way she looked, made me immediately think mitochondrial disease. I noticed there was a carepage set up on the fundraiser information, and eventually I found her mom's blog. I started following Maggie's story, feeling at times her situation paralleled some of what my youngest was experiencing - and they were born only 6 days apart!


But as we've been able to see our child continue to progress, Maggie has been declining. Even though my youngest is very behind for growth (not even on the growth charts), Maggie is still so much smaller! Here is a picture of them both with Maggie's mom in early September:

Maggie is on the right, and you can see her tiny legs compared to my little girl's legs, for one example. Since then, Maggie has continued to lose weight and my little girl has slowly been gaining. So there is about 10 pounds difference between them now!

When I first read about Maggie, they were still trying to understand why she was having so much difficulty. Eventually Maggie went to see specialists in Boston, then Atlanta, where she was finally diagnosed with mitochondrial disease. She has been a trooper and been through so much. Currently, she is battling infections, including RSV. And today she is going back into surgery because Maggie pulled her g-tube out and there is bleeding.

I wish I knew how to help families who are faced with these challenges. How to help comfort little ones who are in pain because of a terrible disease. I don't know if mitochondrial disease is what caused my childrens' deaths, or if it will claim anyone else in my family. But I know mitochondrial disease is real. It's debilitating. It's devastating.

All those of you that I have found online who are facing so many of the difficult or unanswerable questions of mitochondrial disease, you have been on my mind. I even say prayers and ask for help from a higher power through all the difficulties. My faith is not sure, but my hope is there. And just as I Hope for Maggie, I hope for all those affected with the "invisible disease" to have the strength and insight to face the disease in all the ways it manifests.