January 30, 2011

Busy Bees

We've been so crazy busy here with Kate's visit!  It's all been fun, and we've got one week left before she heads back to Jordan.

It only took a good night's sleep before Kate was back on the harp.   We were all excited when everything came back to her (minus callouses on her fingers).

Last weekend we went to South Carolina to visit my parents.  Kate brought them some gifts from Jordan:

We also squeezed in a bowling party while we were there:

While Kate re-learns to drive, I take over ancillary duties with my Thighs of Technology!

Later, when we're back home, Hannah ate her peanut butter toast into a shape of a terrier.  (Another post needed to explain Hannah's new savant dog breed talent)

Playing dolls in a makeshift Bedouin tent...

Those-Are-Tasty Letter Pretzels (even Arabic letters too!)

Kate's good friend for 20+ years (yes, she is just 22) came to visit this weekend.

We had big Welcome Home party last night, with friends from Ohio, Maryland and points South--including Chris back home from school for the weekend!

An impromptu sing-along during the evening....

So I got to get my three kids together for the first time in 15 months!

 And yes, they are all still goofballs!

But I love love love them anyway...

January 25, 2011

Nan Talk

Hannah:   SQUAWKsnap.....I'm making all those animal sounds.

Me:  Like what?  What kind of animals?

Hannah:   The Scarlet MaCrocodile     (The Scarlet Macaw is one of her favorite birds.)


Hannah:   I'm a terrific ballerina.   I can make all these beautiful moves.    My new name is Han-gelina Ballerina!

January 20, 2011

Welcome home Kate!

Hazel was the most excited we've ever seen!

Sisters together again!  (One has cookie crumbs on her face...)

Bread! Cheese! Sandwich!  Big refrigerator!  So many things she missed from home!  

One day of rest, and then we're off to Charlotte to visit Grandparents for the weekend.

January 16, 2011

Baltimore and Research Studies

Our trip to Baltimore was short but sweet and effective.  We drove up on Thursday and spent some time at the Inner Harbor.
Hannah imitating a shark

We all enjoyed the National Aquarium.   Hannah was particularly interested in the zebra shark (which actually was spotted--it's born striped, then loses some of the pigment as it gets older). Chris and I were fascinated with the chambered nautilus--neither of us had ever seen one before.   Very interesting animal, related to the octopus.
(about 5 inches in diameter)

We ate at the Hard Rock Cafe, and Hannah was thrilled with the Elvis memorabilia they had (she recently developed a crush on him--she gets all giggly when she talks about him).

Friday we were up and checked out early to get to our appointment at Kennedy Krieger.   It's an interesting place.  I didn't know they had a school for kids with disabilities.

First on the agenda was Hannah's language screening at the Neuropsychology Department.  A psychologist assessed her language skills.  It was just an expressive one-word picture vocabulary test.  They need to know that the subject (Hannah) would be able to participate in the more extensive language and memory testing during the study.   After that, we went to meet Dr Capone. Hannah's first words to him were, "What's up, Doc?".  

Dr Capone went over some points of the study and gave Hannah a general physical.   He is a good guy--not too overly academic with us (though it wouldn't have bothered me...), but clearly knows his stuff.

After that we went through the maze of urban hospital hallways to get bloodwork and an EKG.   Hannah has been totally brainwashed by me to be interested in the blood draw process.  She smiled through the whole procedure, telling her Jessie doll all the pertinent points--alcohol wipe, tourniquet, butterfly needle ("Oh, that's my favorite kind of needle, Jessie!"), remembering to ask for paper tape (Hannah detests having band-aids removed), counting how many vials of blood they needed (four), and how to hold the gauze after the draw was complete.

She was apprehensive of the EKG.   She doesn't like adhesive things (band-aids, electrode stickers, etc).  She was quite worried, so I comforted her a bit, and then went to no-nonsense mode.   Hannah was only afraid of the removal of the stickers.  I told Hannah that we'd use some of those adhesive removal wipes to help them come off easily, like we used at her latest sleep study.  Then the tech said they didn't have any of those.  Not good.  Yes good: a new kind of sticky! They came right off with Hannah hardly noticing!

We finished the intake in record time--they estimated 4-6 hours, but we were done in 3.5!   Zippy!  We headed for home, avoiding the Washington DC rush hour traffic (three-day weekend traffic? No thanks!).

Here's the chart of what happens when.  We'll be heading back in early February for our Baseline visit.

A few things that were of note:

1. The Rivastigmine (rivah-stig-meen) Study is also being conducted by Duke University.  Apparently Duke didn't have it's funding lined up as well as Kennedy Krieger (KK), so they have not even begun to recruit subjects.  Dr C. thought Duke was getting more focused on this study, so hopefully they would be up and running in the next several months.

This study began in late 2009. Four subjects have completed the study.  Another is in progress. Hannah is officially the 6th subject.   WHAT??   Don't you think that's crazy?  This is ridiculous!  This is extremely relevant research, with big implications.  What's up with the Down syndrome community?  What's up with the advertising on the part of the hospitals that are running the study?   Why did it take over a year for me to even hear an inkling of this study?  I'm pretty active in keeping up with what is going on scientifically, but I never heard of this study until I saw an email posting last month from the DSANV (Northern Virginia Ds group).   There is a posting on the NDSS research webpage, but it's rather cryptic and only lists Duke, with a phone number.  KK has the study listed under Dr. Capone's bio. It could be advertised much more efficiently.

If we, as a community, want progress, we need to participate to make that progress.   I encourage you parents to do your homework.  Please participate in research. The scientists need subjects. Hardly any of the research studies involve any invasive medications or supplements. The majority are about language skills, family resiliency, social communication, etc. Most of them are surveys. Go to the NDSS Current Studies page and see how which ones you can do--it's easy--just an online questionnaire in most cases. There might be a study near where you live!

Hannah has participated in at least 8 studies that I can remember.   She is in an ongoing communication study from Chapel Hill (North Carolina).   The researchers come to our house annually to test Hannah's language skills.  She has been in other language studies from Old Dominion University (how reading skills affect language ability), and Hampton University (VA) for graduate student practicals. She's been in nutritional studies looking at one or more vitamin/supplement absorption.    I'm not being a show-off--I'm just saying that there are many options out there for you and your child to participate.   It's not painful.

I feel that it is imperative to participate. The Buddy Walk on Washington is coming up soon.  We'll be asking our government to provide more funding for Down syndrome research.   Currently the NIH budget for Down syndrome is woefully behind nearly every other condition or ailment--particularly so when you look at the population numbers.   We are making progress in addressing the financial disparity, but if nobody participates in the studies, then we will not make progress.

Stepping down, off my soapbox....

2.  Once we're done with the study, we will be able to get a prescription for Rivastigmine if we decide it's something we want for Hannah.

3. The 2006 Rivastigmine study can be read here.  If you're not familiar with scientific publications, it's going to be difficult to read.  At least give it a try--the introduction is probably the easiest to understand. Then take a look at page 761, Table 3.   Look at those gains in language and memory!  The most remarkable result is that in four months of medication, the subjects averaged 27 months of memory gain!!!  Yowza!

4. Dr Capone thinks that Sleep is the next big item on the Down syndrome research menu.  And Vitamin D absorption seems to be poorly manufactured in the DS metabolism.    Next time your child has blood work, ask for a Vitamin D level as well--or assume, like the rest of the population, that kids with Ds are just as likely as to be part of the epidemic of Vitamin D deficiency.  We use this.    And also get a sleep study!!!

5.  Our family is willing and able to afford four trips to Baltimore (three hours).  I realize that is not the case for many people.  But if you're only an hour or two away from Duke or CHOP or KK, won't you please consider advertising some of the studies that are happening locally?  Send out an email to your DS group, Facebook or post it on your blog.
In other news....Chris heads back to William and Mary today.  And it's only THREE MORE DAYS until Kate arrives!!
P.S.  Check out the comments--some other good ideas and locations investigate for research possibilities!

Read more about our second visit to Kennedy Krieger here.

January 12, 2011

Rivastigmine--Alzheimer's drug

We're headed off to Baltimore in the morning. Chris is joining Hannah and me. He's going to take a look at Johns Hopkins, while Johns Hopkins is taking a look at Hannah.

A few weeks ago we saw an email about a new research study focusing on an Alzheimer's medication and it's efficacy in the Down syndrome population.   This caught my interest.  I've always been leery of the Alzheimer's problem.   I remember a decade ago when I first heard a research study had found amyloid plaques in EVERY Down syndrome brain they autopsied.  I don't know how many they autopsied--but I remember that the individuals who died from things other than Alzheimer's Disease (AD).   And they found these plaques from age 9 months to 40 years old.   Nine months old!   That totally freaked me out. The plaques started so early!  Clearly the 21st chromosome has an impact on neural plaques.

But, compartmentalizing my fear, I decided that by the time Hannah was endangered from AD, the medical establishment would have solved the problem.   Science knew that AD was caused by these plaques.  They knew that the DS population would be perfect to study--there would be lots of pressure from the aging senior citizens to solve AD, so there would be a big push for research, and our kids would be the beneficiaries.

Well, the cogs move slowly.    There are some AD drugs out there, that show some promise in the general Alzheimer's population.   In 2006 Duke University (and one of my favorite researchers Dr. Priya Kishnani) looked at the safety and efficacy of one such drug in adolescents with Down syndrome.  There were only 11 subjects.  But all of them showed statistically significant improvements in adaptive function, attention, memory and language.  The researchers recommended that more studies were necessary--larger, controlled studies.

It took four years since that study was published before someone picked it up and studied it again.  I know that the current study was in the works for quite a while, but it's finally coming to fruition.   And I'm SO EXCITED that Hannah gets to be a part of the solution!

Dr. George Capone, at Kennedy Krieger is leading the study.  I first heard him years ago at an NDSS conference where he was presenting as a member of the Clinical Advisory Board (Dr. Kishnani and Dr. Skotko are also on the Board, or, were..I dunno who's there now!).

This will be a double-blind study, where half the subjects will get the medication and the other half will get a placebo. There will be cognitive and medical testing three times: baseline, interim and final testing. Twenty weeks of treatment.  Forty subjects. That's still small.  But it's a start.

Hannah will have to discontinue some of her vitamin/herb protocol.   That made me happy.  It means that, even if there are no studies that show these nutritional interventions are effective, clearly Dr. Capone thinks that something is working there, or he wouldn't need them removed.    I'm already missing Hannah's ginkgo...piano practice is markedly more challenging--for her, and for my patience.

I'm going to spend the next 6 months assuming that Hannah will be getting the placebo.  We won't know.  They won't know.  After it's all done, they'll open the records and see what the results show.

Friday is the screening visit.  She'll have medical testing--bloodwork, EKG, pregnancy test (WHAT?? Yes. All women of child-bearing potential are required to have a pregnancy test.  It took me a while to swallow that.  But it is what it is:  Research.  Controlled Research.)   Hannah won't know that it's a pregnancy test.  She just wouldn't understand that at all.

We go back in 2-4 weeks for the Baseline Visit where there will be more cognitive testing.  We'll receive the medication.   10 weeks later, we go back form more medical monitoring, and 10 weeks after that we'll be done--testing testing testing.

I had our pediatrician look over the study proposal before we made our decision. She talked at length with Dr Capone. Our doctor was very interested in the study. She feels that there is very low risk, but a significant possibility of positive outcomes for Hannah (if she gets the medication). Rivastigmine works on cholinergic deficiency (remember that study about pregnant moms who took choline? The babies with Ds had less delay than those whose mothers did not supplement choline while pregnant. Interesting.).

Yes, I'd love for Hannah to have cognitive gains. But more than that, I'd love for the research to get underway and solve the Alzheimer's problem for all of our loved ones--be they aging parents or individuals with Down syndrome.
Follow up post can be read here.

January 9, 2011

New Year, finally a new post!

So, instead of fervent apologies and excuses, I'm just going hope for blogger amnesty and jump back into the fray!

All has been well, just busy, busy and more busy.    The holidays were great--Christmas calm and quiet, New Year's spent with my parents and wonderful friends.

Hannah's ornament this year was a firetruck.  She wants to be a firefighter when she's older.

We Skyped with Kate on Christmas morning!  This is the closest as I could come to getting a picture of all my kids at one time! (Good news is that I'll get the real thing in 10 days!!)

We had a white Christmas! 

Yesterday was our local Bone Marrow Drive!  Lois made an appearance to the joy of many.  

Lois received a SuperLois cape!  Look, she used her amazing powers to make her Daddy disappear before our very eyes!

We raised $2,500 and registered 53 new people to the registry in honor of Lois.    If you haven't joined the registry yet, go here to find out how easy and painless it is.  There are about 5,000 bone marrow transplants in the US each year, however, there are 10,000 people who need them.   You could save a life.  

After the fun and excitement at the marrow drive, we were up to more Shenanigans at our house.    We hosted the Funquest group for a mystery dinner last night!  Twenty teens/young adults with Down syndrome spent the evening socializing, playing games and having a mysterious dinner.  It was lots of fun, and they all did pretty well navigating the menu.  Everyone got a menu with items like "Moo Juice", "Oink Oink" and "Don't Stab Me With That!".   The wrote down their orders which were filled in the kitchen and brought to them in the dining room.  Some were surprised to have ordered a knife ("Slice and dice") and a cube of Jello Jiggler ("Wiggly Butt") and some carrots ("Bugs Bunny's Favorite").    Fortunately, we had 6 courses, so everyone eventually got a fork and a napkin.   It was messy and fun chaos, but everyone had a good time.

 (some crazy dancin'!)

It was great fun.  I asked Hannah what part she liked the best and she said, "Hanging out with my friends!".  I thought for sure it would have been the "You're such a sweetheart" (cupcake).

I'll be back soon--I promise!  Hannah's starting in a new research study and I'd like to share it with you.