Tuesday, December 6, 2011

We've got some medical news (The conclusion)

This post is a continuation of yesterday's post.

So, picking up where we left off:  Six months ago I received a Facebook message from a blog reader which, after a few exchanges, put me in contact with a group called Rare Genomics Institute (more on them later).  They wanted to know if we would be interested in having Maya’s DNA sequenced.  I rolled the information around in my head for a few days before agreeing to the first phone call to discuss it all.

I was interested, but cautiously---DNA sequencing is the next (and maybe final?) frontier of rare disease diagnosis, but is pretty novel, and therefore comes with some uncertainty.  It’s also not yet clinically available . . . meaning that we can’t just go to a doctor and ask them to order the test, we would have to be part of a research trial (which than raises some privacy questions).   There were a lot of questions, phone calls, and emails.  We learned a lot, and our concerns were laid to rest.  We decided to move ahead with figuring out whether we were a match for the research.

Over the next few months, I compiled medical records.  I called hospitals and doctor’s offices, signed releases, and charts began to arrive.  I read the files, kind of awestruck by the sheer number of appointments that we’ve had, many of which I have little to no memory of.   I typed up a summary packet of findings, test results, in-office notations, anything that might be a clue.  I traded emails with my contact at RGI, and later with the doctor that we would (hopefully) be seeing at Yale.  He agreed that we were an interesting case (um . . . thanks?).  And that’s what brought us to Yale last week.

At Yale, we met with Dr. Yale (ok, that might be a fake name), who went over my medical summary packet and talked with us (for nearly 2 hours).  The good news was that he didn’t have any guesses as to what syndrome Maya has.  (Yeah, you read that right.  I hate new syndrome guesses—they stress me out and lead me to google the syndrome and read everything about it, then I cry, then I toughen up and accept it, and then 4-6 weeks later we find out that’s not what she has anyway.  Exhausting.)  We were in the exam room for nearly 2 hours, Maya circling around the room, pulling toys out of my giant toy bag and scattering them.  Dave and I delivered another brilliant tag-team performance, alternating as one of us spoke with the doctor and the other entertained increasingly restless Maya. She wanted to be put on the exam table, then she wanted stickers, then she wanted to rip the paper on the table to shreds, then she wanted to get down, then she was throwing blocks.  She kept sneaking behind the doctor’s chair to bangbangbang on the computer keyboard that was right at eye level.  She was a little tornado, first cycling slowly but then with growing ferocity (and noise) as the appointment went from kind of long to long to too long.  In the end, Dr. Yale thought that Maya was a perfect candidate for exome sequencing.  

An aside on DNA/genome/exome sequencing: 
Your DNA is made up of 6 billion base pairs.  Current clinical genetic testing only looks at a very small portion of the DNA.  Whole genome sequencing would look at basically the entire DNA of an individual, but is extremely expensive (although prices are rapidly dropping) and time consuming.  Exome sequencing involves sequencing only the protein-coding sections (exons) of the DNA.  These exons make up only 1% of the total DNA, but are believed to be responsible for about 85% of disease-causing mutations.

All people have genetic mutations, and most of these mutations are completely harmless.  Because of these harmeless mutations, exome sequencing will turn up over many, many mutations, and scientists will have to work to figure out which ones are meaningless and which ones are possible candidates for causing Maya’s syndrome.  They will need Dave & I to have our exons sequenced as well, so that they can compare her mutations to ours (ex. If Maya has a specific mutation and I have an identical one, it would be unlikely that that mutation is the source of her issues).

So, while at Yale we all had our blood drawn, the samples have been received and are in good shape, and now we wait.  

This is the tricky part.

Someday, exome sequencing (and, likely, genome sequencing) will be routine tests that are available through a geneticist, covered by insurance, just like our microarray and karyotype were.  Both types of sequencing have dramatically dropped in price, and the ongoing research efforts will hopefully demonstrate the necessity of making sequencing routinely available to insurance companies.  However, it will likely be another few years (2? 5? 10?  I've heard different guesses from different doctors) before that happens.  With the help of RGI, we were able to find a doctor and a lab that can sequence our exomes, but there is no grant money that will cover our sequencing, because Maya's uniqueness isn't a perfect match for any of the ongoing funded studies with new patient slots available.   

Bottom line: We have to raise the money to pay for the exome sequencing ourselves.

Dave and I are glad to have partnered with Rare Genomics Institute (RGI) in our quest to find a diagnosis.  They are passionate about helping families with undiagnosed children attain DNA sequencing, and they were able to help us with some of the biggest challenges of the procees: screening to make sure we were good candidates, matching us with the doctor and the laboratory at Yale, and helping us to get the appointment (and to get it pushed up a few months).   And now they have built a fundraising platform for Maya (and, thus far, two other children who are in the same situation).   Their idea is this: rather than having a family try to directly fund DNA sequencing (as families of kids with special needs are typically bleeding money to private therapies, uncovered medical bills, devices, etc) a crowd funding platform is set up.  It allows many people to make small donations that will add up to fund the project. 

We need to raise $2,500 for the exome sequencing (genome sequencing would have been six times that amount).   RGI has set up a fundraising page for Maya, and she has already received some donations from within the scientific community (aka generous strangers who are interested in supporting genetic research).   When the fundraising is complete, the sequencing will begin.  From there, it will likely be a minimum of six months before we hear about any potential findings. 

We’re (cautiously) hopeful that this will be the beginning of the end.

A few notes:
  • If you choose to donate to Maya’s fundraising page, we thank you sincerely.   You should know that all donations are tax-deductible and go directly to the funding of Maya’s sequencing project.  The money will go to Maya’s fund at RGI, then will transfer directly from RGI to Yale.  When the money has been received and confirmed by Yale, our sequencing will commence.
  • You may notice that we only need to raise $2,500, while the other children on the site are raising $7,500.  This is due to the difference in prices at the hospitals that they are using.  We are the first patients to go through Yale with RGI, and the costs associated with the Yale lab are significantly less than many other hospitals.
  • If you have a child who is undiagnosed and are interested in finding out whether RGI could help you with genetic sequencing, the best way to contact them is through the contact form on their website, here. 


Carla Baechtle said...

so fascinating--i sincerely hope this is a breakthrough for your girl! a quick note--the link to your blog on the fundraising site is missing the "r" at the end of nieder. :-)

Becca said...

Wow, I agree - fascinating! I certainly hope they can come up with something helpful! And you're right (from your post yesterday) - having a diagnosis is certainly beneficial in a lot of ways. I've heard about this frustrating battle to figure out what was going on from many others, and fortunately some are able to come up with answers. I hope you get to be one of those!

Anonymous said...

This is very encouraging news! I believe the money will come quickly. Keep up the good fight but be sure you and Dave get some rest in between.
All the best,

rameelin said...

I could cry. I feel sincere hope even for our girl after reading this. It's such a process and it's so time consuming but I truly pray that this is going to bring answers and peace, and therefore the best care possible!!! Thank you for sharing. I will be looking more into the site and helping how I can!!! :)

Padgett Mozingo said...

Thanks for sharing this. We spent three hours with Lila's genetics team today and it is exhausting and a whirlwind of information and emotion -- and we HAVE a diagnosis. Know that your strength and your willingness to share your journey honestly continues to be so very helpful to me. Hugs!!!

Cheryl (in Buffalo) said...

Holy smokes!!! Your testing should be able to begin anytime now!!! Wow!!!! The donations are amazing! I am going to look into this...but wonder if we are even candidiates since my little love is adopted with no background records.....