This is what happens when I have time to think while flying over the country!

So I’m sitting here on a plane typing this on my iPhone.I might or might not post it on the blog. It might make sense when I’m done or it might just be bunch of no sense rambling. I guess we will see:) I love to read from books to magazines to short stories I just love it, it’s an escape in a way. For a few minutes here and there you lose yourself in a different world and forget about the daily struggles of your life!

Since Jagger has been sick I had very little time to read, I used to read each night in bed before going to sleep but now it's impossible, if I have any time at all, I usually spend it researching treatments, ideas or talking to other Mito families and trying to educate myself as much as possible on Mito and genetics.

I cannot hold a book and hold him at the same time or at least I can’t turn pages without waking him up!! I tried the kindle way, and it works to a point but my reading time is still down to almost zero.

So one thing I usually do in the plane, is read, catch up on my magazines and if I can open a book

Today I was able to finally finish a book in French about my all-time favorite singer, Patrick Bruel. The book has a strange format and it is more like a Q&A about his life, career, future, etc

Patrick Bruel, has 2 sons that he had later in life, around 40 years old I believe, and one of the question from the writer was, when your sons will be 30, you will be almost 80 are you ok with that?, and the answer from Patrick was very touching:” Ce que je ne connaitrai jamais avec eux me manque deja.”  which in English, roughly translate to “I am already missing what I will never be able to experience with them”

And of course, that made me think, now for us it’s a reverse situation, but it’s so true, I do think about that sometimes, all the thing that I will never able to experience/share with my son, and it does makes me sad because it is not the way it’s supposed to happen

Annett and I do live one day at the time now, and when you have a Mito kid, you don’t really have a choice, but we do sometimes talk about the AJ (after Jagger), now some of you might thing that is weird or wrong, but it’s just being realistic, we do know that day will arrive, we hope wish and pray each day, it will not happen for years but we know it will and there is nothing we can do about it.

Mito will be with us forever, not only because it will take our son, but because if we decide to have other kids, we will always have the fear/worry that Mito will be a possibility  our next baby. For a long time, I have been thinking about what I can/will do in memory of Jagger and I always come back to the same thing, a nonprofit charity to help Mito kids and families, what will it be, I don’t know yet, I have a few ideas but not time to look into it deeper at this moment, nothing will happen as long as Jagger is with us, because I do want to spend as much time as possible with him.

The only thing I know for sure is the name, it will be call Jagger’ smile, because that is the one thing that everyone that had the chance to meet our little boy for even just a few minute, will always remember about him, Despite the great pain he deals with daily, he always find a way to smile, his outlook on life and happiness are truly amazing, and I know that is I was in that much pain, I will not be smiling, but our little boo is truly an amazing strong boy!!

The other thing that often cross my mind is to write a book,I am by no mean a writer, and Annett still has to correct some of my grammar before I post on the blog and the spell checking does a great job catching my typos, but I think a book about our experience and how we are dealing with Mito could be helpful to newly diagnosed families. Not sure it will ever happen but who knows, and if I do someday write it, I hope that all of you will buy 1, no 5 copies!:)

Ok, enough of me rambling, I guess that entry is all over the place and make little sense, but that is the way my mind is working those days on the little sleep that I get!! LOL

Talking about charity, we were lucky enough to get connected with a great charity call Tiny Sparrow, they take professional pictures of terminally ill child as a memory for the parents/family and on Friday we are having our photo shoot. Feel free to check them out at tinysparrowfoundation.org and if you happen to be a professional photographer and have a little freetime, please contact them and offer to help, they are always looking for photographers all over the country.

Ask and you shall receive......at least until the insurance company decides not to pay anymore

Jaggy got a new toy:). Well, not exactly a toy but it shakes him and he seems to like it so far. It's called the vest and it helps loosen secretions so he can cough them up, keeping his lungs clear and hopefully with additional TLC pneumonia free. Jagger always loved vibration so when I saw this thing, I told Sebastien we need to get it for Jagger. Thanks to Sebastien and his desire to network with many mito families we found out about this device from one of his facebook friends/ mito mom. We don't really see doctors and our nurse although good is a hospice nurse so she deals with his pain and not so much preventive care. So thank you Facebook and Twitter and for all those who share your stories. Honestly, we get more useful information on how to care for and treat our son from other families than from our doctors. I don't mean to discredit anyone, we do like our doctors as they have provided great care, however to all of them it really is just a big guessing game. Our mito doc (dr ke) is excellent but mito disease affects everybody so differently there really is no such thing as a standard treatment protocol. And now let's go shake shake shake the baby......well gently:)

Ever wonder.....

Ever wonder what happens if you give Valium to your baby before a bath?? Well, wonder no more.

To bathe or not to bathe. That is the question

Usually Mondays are bath days for Jagger. Since he really doesn't like the bath or generally being messed with, we try to limit bath time to once a week. Although I would like for him to get a bath twice during the hot summer months.
Well this past week Jagger decided to sleep all day and play all night. Maybe he finally found the loop hole: sleeping = no bath. Sneaky baby.
The result:

MITO advocacy, we need your help!!

Ok, this is where we need everyone help, and I promise it will only takes a couple of minutes, and it will greatly help our efforts toward a cure.

As a result of the Day on the Hill (See previous entry), we are pushing two opportunities for Mito awareness in the US Congress.

·         House of Representative

We asking members of the House to join the newly formed Mitochondrial Caucus formed by Representatives Anna Eshoo (D-14CA) and Tim Murphy (R-18-PA).

See the letter announcing the creating of the Mito Caucus .

And more details on the Caucus from the UMDF:

The caucus will serve as a forum for members of Congress and their staff to learn about mitochondrial disease and related illnesses. The Mitochondrial Disease Caucus will provide support for the efforts of agencies such as the NIH and the Department of Defense to support cutting edge research into mitochondrial disease toward the goal of developing therapies and cures for specific diseases and new insights into many major disorders.

As of today (07-14-2012), 11 congressmen/women have agreed to be a part of the Mito Caucus, we need everyone help to get many more members in this Caucus. So how can you help? Well, we making it very easy for you, click this link :Join the Mito Caucus letter" and in less than 5 minutes you can have a letter sent to your Congressmen/women

·         Senate

Senator Boxer (D-CA) introduced Senate Resolution 490, we need to have as many co-sponsors as possible on that Resolution so it will get out of committee and will pass in the Senate. I know some of your Senators are Republican and there is no lost love between the Republican party and Senator Boxer, but this is why it is even more crucial to get Republican co –sponsors, this need to be a bipartisan effort, it is not about politics, it is about kids like Jagger dying each day because there is still no cure for Mito diseases. And to answer any monetary concern, this resolution will only re-direct funds to Mito research from within the already approved NIH (National Institute of Health) budget, it will not add one cent to the deficit, so there is really no reason for your senator not to co-sponsor it J

More details from the UMDF:

On Tuesday, June 12 2012, Senator Barbara Boxer of California introduced Senate Resolution 490. Recently, the NIH and UMDF conducted a workshop that explored the opportunities and barriers that exist in primary mitochondrial disease research. The result of this workshop was the development of a White Paper that applauds the NIH for its role as a leader in the field as we move forward. It also recommends enhanced emphasis on basic mitochondrial research; supporting research that will provide the basis for drug development, improved mouse models, and next generation sequencing; expansion and support of stable, long-term patient registries and a biospecimen repositories; and the creation of a working group to develop a system for continued interaction with NIH Institutes and the extramural community. Sen. Boxer’s resolution applauds the NIH for this effort and encourages them to follow the recommendations made in the White Paper.

As of today (07-14-2012), the Resolution has 4 co-sponsors (3 Democrats and 1 independent), so we definitely need a few more, so once again, we are making it very easy for you to help, click this link "Co-Sponsor Senate Resolution 490" and in less than 5 minutes you will be able to have a letter sent to your Senators

It would be so great if everyone that reads that blog and all my twitter/Facebook friends could help you, Annett, Jagger and I would really really appreciate.

Thank you in advance, and if you hear anything back from the members of Congress you contact, please let me know!

And thanks to Kristi for the links (Kristi Blog)

UMDF Day on the Hill Recap- June 14th, 2012

This is a long overdue recap of the UMDF day on the Hills

First of all I must say it was a very difficult decision for me to decide if I should go to DC or not.

I really hated leaving Annett and Jagger in the ICU, but since he had a good night and was just on flow (no oxygen), I figure I could go. And DC is not that far away so if anything should happen, I could get home pretty fast.

Looking back at it, everything went well with Jagger and it was a very good event to attend, I learned a lot and met some amazing doctors and Mito patients/families. 

So on Thursday June 14^th I got up at 5 am, and Jagger had a good night, with no extra need for oxygen, so I got ready and left for the airport. Once I got to DC, I drove to the hotel but could not check in so I had to finish getting ready in the hotel bathroom, that was interesting for sure! LOL

I then took the train to the city (the symposium was in the suburb) and I met the team in our hospitality room in the Cannon house building. I met with Cliff from the UMDF, it was nice to finally meet in person after weeks of emails back and forth. I had a quick abbreviated training on what we are trying to accomplish on the Hill, and I was on my way to the Longworth House building for my meeting with Congressman Hank Johnson’s office. The Congress was in recess, so the congressman was actually back in Atlanta, but I was able to meet with his senior advisor Mr. Ossoff.

The meeting went well, and I was able to share Jagger’s story and a few pictures.  Mr. Ossoff was very receptive and asked if the congressman could help us on any level, such as writing a letter to help us get into the drug trial if necessary. It was a very nice offer for sure. I also shared the news about the newly formed Congressional Mitochondrial caucus and asked him to check if Congressman Johnson would be willing to join that caucus. (more details on that and our Senate resolution in the UMDF advocacy blog entry).

Once my meeting was over, I went to the Senate side to meet up with all the other Georgia participants to meet with Senator Chambliss. Let me tell you, it is very hot walking around DC in a suit with 90 degrees outsideJ

Our first Senate meeting was with Senator Chambliss, but he was called into a Senate intelligence meeting at the last minute, so we met with his health care affairs senior advisor, Mr.Gerakitis

There were 14 of us, but a good mix of people, family with kids affected, adults affected, parents of young children affected and teenagers affected. We explained a little about Mito and our daily struggle and asked Mr. Gerakitis to ask if Senator Chambliss would co-Sponsor Senate Resolution 490. We kind of got the runabout and no real indication that Senator Chambliss will Co-Sponsor the resolution at this time. We will follow up with his office and maybe if enough people write/email/call maybe we can influence the decision.

Our next meeting was just 3 stories down at Senator Isakson office. We met with one of his senior advisors Mr. Phiniezy. The meeting was very similar to the previous one and while a little more positive we could not get a commitment at this time, so we will have to make sure we follow up.

My first impression was that it will be a lot harder to get any commitments from the Senate side than the House side, but that is usually the case most of the time.

We then walked to the bus to get back to the hotel in Bethesda and had a recap meeting with the entire group.

The ride back took about an hour, but I was sitting next to M. (Dr. Ke husband) and we had a great conversation. I also met one of the Mito mom I have been talking to on twitter for a few weeks now, so it was nice to meet Kristi in person. (She has a lot of great info on her website http://babyfoodsteps.wordpress.com/)

Once back at the hotel, Cliff from the UMDF lead the recap meeting, and the consensus was that it was a very successful day and we were able to reach a large number of congressman/woman and senators. We even had one senator (Senator Menendez, NJ) agreed to co-Sponsor Senate Resolution 490 on the spot.

Cliff stressed the importance of following up and sharing the info about the  House caucus and the Senate resolution with all our friend and to post it on social networks. So please take a look at the UMDF advocacy blog entry and see how you can help us spread our message.

I went to Chili’s down the street to grab some dinner. Back at the hotel, I went over the schedule again so I could make sure I know what session to attend on Day 1 of the family program.

UMDF (United Mitochondrial Disease Foundation) Symposium Day 2 review- Saturday June 16th , 2012

So after a resting full night of sleep, I was ready for day 2 of the symposium.

Met with some of my new Mito friends from Georgia and Michigan for breakfast, before going to the first presentation of the day.

On day 2, I attended the following:

·         Pain Management for Adults and Children with Mitochondrial Disease: Different options to treating Pain By Dr. Kendall (Virtual Medical Practice) and Angela Fletcher (Psychologist at Children's National Medical Center, Washington DC)

o   Pain is a major Mito Challenge

o   Different types of pain have different treatments

§  Abdominal pain (reflux, dismobility, constipation, gastroparesis, etc)

§  Headache/Migraine pain (migraine disorder, autonomic dysfunction,  other triggers can bring it on such as exhaustion, intercurrent illness, dehydration, etc.)

§  Neuropathic (nerve) pain ( very uncomfortable, usually deep pain in hand and feed, treated with Neurotin)

§  Muscle pain (deep aching pain or cramping. Can be treated with Mito cocktail, low intensity exercises, medication from Over the counter to narcotics)

§  Generalized Pain (hard to treat, best way is to keep under control at all time. Palliative care can help)

o   Alternative approaches to pain such at massage, yoga, meditation, acupuncture, physical therapy, etc. can also help

o   Angela Fletcher, (Psychologist) also talked about the importance to be able to pinpoint the pain for effective treatment and pain triggers such as lack of sleep or sleep problems.

§  I was going to attend  the “gift of the ladybug” presentation, but the author Carole Amber had a death in the family and was not able to make it to the symposium. Ms. Amber lost her son to Leigh disease (same disease that Jagger has) and one day driving back from a doctor office after she got the news that her son had a terminal illness, she came up with an idea and wrote a great children’s book. Some of the profits from the book are going to the UMDF. So if you are looking for a great children’s book about acceptance and being different, make sure to check it out. It is available at Amazon: http://www.amazon.com/The-Gift-Ladybug-Carole-Amber

§  Living with Mitochondrial Disease Panel with Kristi Cole (RN), Sharon Goldin  and her two sons, Mary Beth Morris (parent) and Devin Shuman (young adult). Video of the presentation is available: http://vimeo.com/44904380

o   The panelists gave tips/ideas on different topics, such as travelling with a Mito child, dealing with Medicaid and disability, being in high school and college with Mito, etc. It was a good overview of several topics but it would be hard for me to describe it all on this blog.

Next was lunch, which I spent talking to the Georgia crew and we brainstormed about activity/events we could organize in the Atlanta region. We have some really good ideas and I am really excited about a few events  we have coming up.

After lunch, I attended:

§  Ask the Mito Doc Panel with Dr. Kendall (Virtual Medical Practice), Dr. Enns (Stanford) and Dr. Kelley (Kennedy Krieger Institute). Video of the presentation is available:http://vimeo.com/45101031

o   Panel mostly took questions that were sent in before the symposium and they had a few minutes at the end to take audience questions

o   Most questions were related to genetics and or gene mutations causing diseases or about the Mito cocktail/drugs available to patients

o   Some questions about Q10 efficiency and panels said it can take 2-3 months to show results.

o   Panel pointed out that even patients with the same mutation of the same gene can be affected totally differently.

I was also able to get another “Ask the Mito doc” time slot, so I met with Dr. Hass (UCSD), we had a good conversation about Jagger and he also believes Jagger should be on EPI (we are still working on that but it should hopefully happen soon) and he gave me advice on some meds that could help with Jagger’s secretions. For about 3 months now, secretions have been one of the daily challenges we face with Jagger (along with pain), we have to suction him at least 15 to 20 times a day and that comes with its share of gagging and vomiting of course and aspiration which is likely the source of his recent pneumonia.

After my meeting with Dr. Hass, I rejoined the summary of the scientific symposium (that was concurrent with the family symposium). It was a great review but way too scientific to put on this blog. If anyone wants more details on the scientific sessions recap, please leave a comment and I can send the audio files.

It was then time to say bye to my new Mito friends and head to the airport. I even had enough time to grab a bite at the airport and the flight home was uneventful (even scored a 1^st class upgrade), which is the way  I like it.

I got to the house around 11 pm and it was great to see Annett and Jagger, as they were discharged from the ICU earlier in the afternoon.

In summary, I am glad I went to the symposium, I learned a lot, met some great doctors and amazing mito families.

As difficult and frustrating as the “Mito” journey can be, it feels good to see doctors with such dedication and accessibility , always ready to help in any way they can.

I also wanted to say thank you to the UMDF and all their employees for putting together a great program, very well organized, and I hope I can make the one next year in Cali.

UMDF (United Mitochondrial Disease Foundation) Symposium Day 1 review- Friday June 15th, 2012

This is a recap of the UMDF Symposium day 1. I am going to try not to get too technical, so I will just put a small recap of each presentations I attended, but I am also working on a more detailed summary of the symposium with possibly audio of some of the presentations. I will try to get everything on a CD in the next couple of weeks. If you are a Mito family or interested in the details of the symposium, please leave a comment with your email and I will contact you .

So after a quick continental breakfast, I attended the following presentations:

·         Welcome and Managing your Symposium experience by Dan Wright and Chuck Mohan (UMDF)

o   For majority of attendees it is their 1^st symposium (that includes me!)

o   UMDF is growing fast, 80 chapters around the country, with 7 regions created and regional directors position in 3 regions as a trial

o   Day on the Hill was a success, 238 visitors, 42 senators  and 82 congressman/women office visits.

o   Senate resolution 490 ( to redirect NIH funds toward Mito Research) and House caucus (to raise awareness in the House) are the main agenda items we are pushing in DC

o   UMDF very efficient, only 6 cents of every dollar used for administration (day to day operations)

·         Maximizing our Mitochondria and the National Institutes of Health (NIH) by Dr. Groft (NIH)

o   NIH challenge is to coordinate the research

o   Patient registry is one of NIH main focus, without large patient registry it’s hard for researchers to develop drugs/treatments

o   Mayo Clinic and NAMDC (North American Mitochondrial Disease Consortium) are working together to coordinate patient registry and make it easier to get info/blood from patients and families.

I was able to sign up for an appointment with a Mito doc during the “ Ask the Mito doc” session. This is a private 15 minutes session with one of the leading Mito docs in the country. So I met with Dr. Enns. He is one of the EPI 743 drug trial principal investigator( we are waiting to start Jagger on the drug but it’s on hold at the moment). 15 minutes does go by super-fast, but it was nice to hear another opinion on Jagger even if it looks like we are already doing all we can and have all our bases covered. Regardless it was nice to meet Dr. Enns in person.

The next presentation was very good and very informative, but it was a lot of info to fit into 1 hour.  Dr. Parikh is a great presenter and the president of the Mito Society.

·         Mitochondrial Disease 101 and potential therapies by Dr. Parikh (Cleveland Clinic). Video of his presentation is available: http://vimeo.com/45107691

o   Mito present so differently from other diseases, it makes it even more challenging

o   Mitochondria turn food into energy, it is a complex procedure

o   Most research on Mitochondria is less than 5 years old, so still a lot we do not know

o   Mitochondria are in both maternal DNA (37 genes) and Nuclear DNA (over 1200 genes)

o   When there are more unhealthy Mitochondria than healthy ones, you have a Mito disease

o   Brain requires 20% of all Mitochondria in body, that is why the brain is most often affected by Mito disorder

o   Mito disorders/diseases can be primary(Typo in DNA) or secondary (brought in by another diseases such kidney failure, meningitis, etc or brought in by drugs such as Propofol, HIV drugs, etc)

o   Some red flag symptoms to look for (including brain issues, motility issues, hypotonia, hearing loss, etc)

o   Diagnostic is getting better but still a challenge

o   Next Generation DNA Sequencing (NGS) is a new tool that can look at many genes at once, very efficient but still has limitations

o   Depending on patient, moderate exercise can actually help increase Mitochondria function

·         Clinical Trials and EPI 743 by Dr. Enns (Stanford). Video of the presentation is available: http://vimeo.com/44762372

o   NAMDC registry is very important for all drug trials. 3 current studies/trials are using data from NAMDC and Mayo Biobank

o   EPI is similar to Q10 but has unique attribute that allow better absorption by the brain

o   At this time, it is only on emergency protocol (90 days end of life patients)

o   120 patients currently in study, no drug related adverse events observed so far

o   Phase 2 is completed, ongoing dialog with FDA to start Phase 3. First 14 patients on drug show improvement on Newcastle scale.

o   Leigh patients have priority to get in study since it is the most severe Mito disease, but study is currently on hold for administrative reasons.

o   EPI expectations are high, so everyone needs to be cautious.

o   Other currents trials are: Effect of exercises vs. inactivity on Mito patient, Phase 3 trial of Co Q10 effect on Mito disease

The next presentation was my least favorite of the entire symposium, the speaker was very opinionated and at least for me it was not good information

·         Immunology issues in children with Mitochondrial diseases by Dr. Pacheco (University of Texas)

o   Mostly talked about immune system of Mito children but serious cases

o   Most of her patients need IVIG (replacement immunoglobulin to fight infections)

o   She is very aggressive with administrating vaccines and antibiotics (which is a very controversial issue in the Mito community)

The last presentation of the day, was very interesting as Next Generation sequencing is the future of Mito diagnosis.

·         Genetics and Next Generation Sequencing, what does it mean to Mitochondrial disease patients and families by Dr. Thorburn (Royal Children’s Hospital, Melbourne, Australia). Video of the presentation is available: http://vimeo.com/44980534

o   DNA is a string of letters (about 3 billion on each strain), those letters code what proteins do, a mutation is a change of any of the code

o   All Maternal (Mitochondrial) DNA is passed to the child, but only 50% of Nuclear DNA is passed to the child from parents.

o   109 Nuclear genes and 34 Mitochondrial genes can cause Mito diseases (but some are not yet discovered so number will increase)

o   Next Generation Sequencing (NGS) can look at thousands of DNA genes at once. It’s faster, cheaper and can end diagnosis odyssey.

o   NGS can do sequencing of 10, 40 or 100 genes. All Mito exome (all known Mito genes, over 1000) is also available.

o   Main problem is how to use and study the data, very few people can understand the results.

o   NGS is a game changer and will only get better, it will reduce the needs for muscle biopsy and make diagnosis of Mito disease easier.

The day ended with the UMDF banquet, which was very well done and the keynote speaker, Dr. Gahl of the NIH undiagnosed disease program, gave a very interesting and informative talk about the challenges of diagnoses of rare disease. He (and his team) are like a real life Dr. House department. The program is growing each year and they have already discovered several new diseases.

During the banquet, the UMDF also announced those researchers and projects who will be receiving grants from the UMDF to continue focusing on Mito diseases/disorders and trying to find treatments or a cure.

I was sitting with some of my new Mito friends from Georgia, Illinois and Texas (one of them being one of my twitter followers, so it was nice to finally meet in person). One of the moms has a kid with Leigh ( who is on the EPI drug), he however seems to be doing a lot better than Jagger since he is walking and talking so it was hard to tell how much the drug is actually helping him, but it is very interesting to be able to share experiences and get tips from other families who are in the same boat as we are.

It was a very good day but totally exhausting both physically and mentally  with so much info shared by everyone.


UPDATE: The UMDF has posted videos of some of the presentations. I tried to linked them on this blog, but here is the link with all of them: http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.8193117/k.5641/2012_Symposium_Capitol_Hill.htm
therefore I am not going to put a full review CD together anymore as the UMDF audio quality (expect on EPI presentation) is a lot better than what I have. However if anyone want more details info about a certain presentation, don't hesitate to contact us and I will send you the audio file and my notes.