Saturday, December 29, 2012

Time to kiss goodbye: 2012


I've been waiting for 2012 to be over soon since about...April?

This has been officially the most difficult year of my life, but now with only a few days left before it's over, I'm getting a "Pang" in the stomach. Because I'm weird like that. Somehow it seems that with the new year I should start moving on, but I have a hard time now letting go of the year of my son, and I fear that as time goes by his memory will start fading.




In a quick review, We met our baby,
We fought alongside with him. We bonded.
We gave him baths and listened to music.
We buried our son and gained an angel.

We cried, we fell, but we were never alone.
We had people to walk alongside with us.
We learned that after despair, hope and healing comes,


 We rode and released balloons,
We prayed for others and for us.




We lit candles and sought light.
We prayed for peace and healing,
We remembered.

Our bodies took a hit. David had back surgery.
Our house flooded. We remodeled,
We rebuilt, We got busy.We fixed it.


We went to Sedona, Dallas and Washington DC...


If you are still reading, you probably are feeling somewhat exhausted. I am. Actually exhausted is an understatement; but we're still here, together. We miss Zach every day but we pulled trough. I don't want to make a whole lot of resolutions this year that will fall trough the cracks. My only plan now is to continue healing, to learn to trust life again, and believe that good things are yet to come.

On that note, I wish you if not a Happy 2013 at least a boring one, because believe it or not, sometimes boring is good!

Thank you for reading, thank you for caring. 









































Time for Family: Christmas 2012



 This is a little delayed Christmas post. I have been away form the computer for a while... in fact we have been away for a while since we decided to spend this season visiting our families out of town.

As the first Christmas without our son, I was anticipating deep grief; so we decided that it was better to be close to our family, the ones that just like us had a very hard year and also experienced our loss. We got to visit David's family in Dallas for a couple of days, and then we headed to Washington DC, to take the cold weather and to surprise my mom and dad, that had no idea that we were going.

We needed to create new memories, and it was amazing to see their faces when we just "showed up" when they were least expecting it. Truly priceless!

With the cold weather we didn't do a whole lot of outdoor sight seeing; we visited a couple of museums and did some last minute shopping and some nice dinning, but really the main focus of this trip was to relax and spend time together. My sister Olgui and I were pregnant at the same time... she had a lovely and healthy strong boy that we now adore and call "Maxito" as if Max wasn't lovely enough...

To be honest, meeting him in person was difficult since he is just a month younger than Zach... but that's another post.  It was lovely and joyful to be around him, since he made me feel like we had known each other forever. Maxito is all cuddles and smiles! He also has brought a lot of happiness and healing for our family, and I know that my boy will always watch over him to protect him.

This Christmas season has been overall bittersweet: My angel is not with us, children are getting shot at schools, families are still spending this time in the NICU, or PICU and this is now a reality that hits home too close, the idea that we could have been one of this families is really not a too far stretch of the imagination. But somehow God has different plans, we got to travel, to enjoy our family and to feel "home". We have a whole new level of gratitude for that.

I'm sorry that I wasn't too much on the season spirit this year, but I guess that it's OK. If you have joined our journey, and are still caring, following and even praying for us, I don't have enough words to thank you enough. From the bottom of our hearts, we wish you a wonderful "Late Christmas and a Happy New Year"




Best Sushi that we've had in a long time,
celebrating our parent's 45th year anniversary. 

It's always so good to see my mom and dad!
Love you guys!

Making fun of my sister as she multitasks
and does some last minute shopping. 


Our Dear and Lovely "Maxito" oppening
presents on his first  Christmass.
Note: He pushed the presents aside
and kept playing with the gift wrap paper...


Dear hubby David, spending some
quality time with my niece Lucia. He is one amazing uncle. 


Dear Lucia, giving his daddy a present. Lovely!









Tuesday, December 11, 2012

Time for 11 months, 11 things, 11 Everywhere...


Photo Image from "Katie the Scrapbook Lady" at
http://www.scrapbookladypages.com/, great site BTW.

I am not a superstitious person, nor is my husband. I've been reading quite a bit about the grieving journey and it seems that grief does make your senses more acute. The sun somehow shines with more intensity, the wind wraps you around like a blanket,  that butterfly or snail that I would have stepped on not too long ago... are now "signs" that my son is watching over us and sending us a reminder. Who knows?

Even before we met our boy, David and I would look at the time randomly and it would be 3:11, 5:11, 6:11... something 11. My husband jokingly quickly pointed how "random" that was, but the elevens kept coming every time that we looked at the clock randomly. We decided our boy's name on 09/11, and the day came and we met our son 01/11.

We have voice mails and blog posts left or published at guess what time... Yes, something 11. This number shows up everywhere: License plates, loose change, addresses, you name it. I still look at the time randomly and is still 8:11, 9:11...You get the pattern,  and I like to believe that for that little time frame, my son is here checking on us. David and I agreed to believe that, whether or not is truth, during that minute we say our son's name out loud, we talk to him, tell him how much we love him and how much we miss him. Sometimes I cry and ask him for forgiveness, for the times that I doubted him, the times that I was scared, or selfish even. Now I hope that the 11th minute doesn't catch me doing something too embarrassing (like a toilet moment)...or angry; is a reminder trough out  the day to focus on the larger picture, to keep my eyes on the prize, and to act as if my son was watching at all times, it keeps me in check and puts me back on track.

Today, you would have been 11 months. I decided to forget what are the 11 month old's supposed to be doing, but still, part of this stubborn brain keeps track of other children around your age. As ashamed I may be to admit, this hard head of mine is still comparing and is still trying to at least understand how when you see this kiddos you can feel  pain and joy at the same time. I still keep track of time, yours and mine. You would think that time will makes things easier, but it doesn't. I will always miss you and whisper your name on the 11th minute of any given hour until I die.

All I can do now, is enjoy the short sweet minute that you check on us.Our sweet secret code:
You lived, you mattered, your life had meaning and purpose, and we will always REMEMBER you.

I know that even if you were here, probably we would have been in a very different place than with any other 11 months old, and that kind of grief would have stayed, regardless. Today, in your honor, I will celebrate and miss the Zach that I indeed had: The one with the chubby cheeks, with the crooked finger and the little clubbed feet that we learned to love. I will miss YOU, not the child that never existed, but my sweet Zachary Owen, the one that changed our lives for good.

Happy 11 months son, I will meet you at the 11th minute of any given hour.





43236
Photo Image from "Katie the Scrapbook Lady" at
http://www.scrapbookladypages.com/, great site BTW.



Wednesday, December 5, 2012

Cuando, Cuando, Cuando?


When will the hand catch up with 
the speed and randomness of the mind?

When is that this familiar chains of
grief and sadness will break?

When will despair fade into acceptance
and judgement will welcome grace?

When will this numbness stop, 
and courage will rise to speak up, 
or scream... or both?

When will fear become daring enough
to dream again and jump into 
trust instead of control? 

When will the healing come, and
brokenness be whole, 
When is that my eyes will meet
again yours?




Found this picture of my old
acrylic paintings, when  will I have TIME to paint again?

Sunday, November 11, 2012

Time for a list: 10 months, 10 things.


Dear Zach:

Today you would've been 10 months old. In your honor, I will let the pain aside (at least for today) and I will  just remember the good and the blessings that came with meeting you. We will go to a memorial service today at 3:00; a special service for those little ones that just like you, left us too soon and are now having a blast with our heavenly father. Whole and healthy. This random head of mine would like to write something grandiose, something as magnificent as you, but the ache in my chest and soul is a huge block that prevents it from happening. Constantly.

I will make things simple and I will stick to a list. 10 months, which gives me 10 good things that came from your short visit with us:

1. You showed us what selfless Christ like love is truly like. Given the choice, your dad and I would've gladly switched places with you, if that had made you whole and healthy in this earth. Just like Jesus who died for us, we would have done the same for you. Not because we are "good people", but because I know that this is a feeling that any mother and father shares for their sons and daughters. Now, with a heavy heart, I understand.

2. You made us a family. David and I stopped our self-centered worlds to realize that there's more in life than living just for ourselves, even though part of our family is in heaven now, we're still "The Harmonson Family".

3. Thanks to you, we learned what grace truly means. Being on the receiving end humbled our spirits. We were showered with love and grace everywhere including our family, our church, and the people in our community just willing to help us every step of the way.

4. You brought truly amazing people to our lives that we wouldn't have met otherwise. We gained a whole new level of respect for doctors, nurses and therapists; specially the ones involved in your care, since they showed a level of love and compassion that only God can give. You continue to bring great people to us online, in our new support group, and to this day, I get new friends, almost on daily basis.

5. You opened our eyes to the many needs and pain that is still out there, because unlike our real home, this is a broken place. You inspire me to not give up on my faith, to keep praying and following other kids and families that are still in the trenches. I'm still praying to find a way to help and reach out in a more meaningful way. I'm not trying to make excuses (or maybe I'm), but I haven't done a whole lot more because I'm also trying to get back on my feet again.

6. You left us a beautiful garden that was given to us by our neighbors and their family. My San Antonio family, truly compassionate people that grew closer to us thanks to you. Today in your honor, the roses are specially blooming today, just as you would have. This garden knows that today is a milestone worth celebrating.

7. You showed us in an "In your face" fashion that God doesn't make mistakes. No matter what, there is meaning and purpose for every life since conception. Every human has been fearfully and wonderfully made and shares the signature of the same creator. (DNA?)

8. You gave us a whole new level of appreciation for eyes that blink, wrists that bend, hands that move, legs that kick, facial expression. Every one of our breaths have been counted and we still need to make the most of them. Ahem. All I can do now is give thanks for the breaths and blinks that I have left, and I'm still trying to make the most of them, even though I feel sometimes that I'm failing miserably in that arena.

9. You made me a blogger and created a whole new monster here. I spend a lot of time reading and following other blogs and stories that I wouldn't have connected with otherwise. If this blog is able to help at least one person, or if it helps keep your memory alive, it will all be worth it.

10. You made me a MOM. You made me experience what is like to be pregnant, having life growing inside of you. People that doesn't know me may not know it, but I'm a MOM! I have the stretch marks, the c-section scar and the hole in my heart to prove it. You changed me inside and out my beautiful angel, and there aren't enough words that I can put out there to explain just how much I miss you and love you, how much you still mean to me, how YOU, my little miracle changed our lives and faith in ways that we're still trying to comprehend. We will see each other again boy. Please be patient and keep cheering for us while you're in heaven. (We promise not to embarrass you too much).

Happy 10 months my sweet angel, my "pulga", my fearfully and wonderfully made,
"Zachary Owen."



The three of us cuddling in OUR BED!
Sorry for the low quality pic.
 I don't have a lot of pics
with all of us at home,
which of course,
makes me feel like smacking
myself in the head sometimes...



Tuesday, October 16, 2012

Time to Light Candles and Release Balloons


"Because angels do come to visit us.
Every now and then,
and we have to make them feel welcome,
because they come to touch many lives.
Even if it's for a short period of time;
angels are here to be cherished
and be cared for,
and once you meet an angel, 
your life is never the same."



Yesterday, October 15th was "Pregnancy and Baby Loss" awareness day. I was really glad to receive a call last Friday afternoon from the Hospital that was in charge of Zach's home care to let me know about the event. I wish I had know earlier about this, I would have made t-shirts with the cute peanut's face on them... but oh well, I guess that will happen next year.

All over the world, on October 15th, candles are lit at 7:00 pm to remember all of our angels. The ones lost trough miscarriage, still birth, SIDS, or infants gone home too soon due complex medical conditions. I had to fight the urge to hug about every one in the park, we all had the same tears, the same heart ache, the same hope to see our boys and girls one day in heaven with our heavenly father, whole and healthy.

Next year, I want to make a big to do about it; hopefully with more time in advance we will be able to go all out. We are still new to this whole thing, so we weren't exactly sure how to act or what to do, we just showed up and David was assertive enough to get the biggest blue balloon available in the market. I know that our boy liked it.

 I spoke with some families that just like us, have walked the less traveled road, and it put things in perspective to realize that our Zachary, being two months and two days old, was actually one of the "elderly ones". Many of this children were with us for minutes, hours, a few days or weeks maybe... and it made me appreciate much more the time that I actually had with my boy. It also left me in awe the fact that this lives that lasted minutes or hours or even in the painful time frame of a stillborn,  this little ones were able to have a huge impact in other's lives. This precious lives happened and mattered. They mattered.

Find more information, resources and a beautiful online shop at www.ocotber15th.com





We heard that this year had twice
 as many people as last year!

Mommy Misses you every second,
every minute of every moment of every day. 

David got you the biggest possible
 blue balloon, hope you liked it. 

We look forward to see you again.

In the meantime, we hope to make you proud.
 (Or at least, no to embarrass you too much )


Time to Catch up

Lot's of happening around here lately, hence the reason why the blog has been kind of neglected. I'm kind of scared to see when my last post was, but let's see... I left off with a wooden desk from craigslist that needed a face lift, and now I'm writing on that very same desk. The office is pretty much finished, and now we need to finish our bathroom and bedroom, which are still without doors.

I also need to catch up with my energy levels, since the major remodeling. I've been feeling kind of weak and weary. It was nice to be extra busy and have a "break" to keep the mind and the body occupied, but I feel pretty worn out. David also had his back surgery in the middle of the whole make over. Thank God he's not in this excruciating pain anymore, and now it's just a matter of recovery. A slow but steady recovery and hopefully in about 5 more weeks I will have my hubby back 100%.

Steady and slowly we are getting a new sense of normalcy back. Sometimes after a long day at work we even eat and watch movies at night, just like everyone else. We work and try to connect with each other, and even pretend to function like the rest of the world does. It is HARD. It's easy to believe that we're getting over this rough times, that things will turn around and we might as well win the lottery or something along those lines because we are just like this amazing people who deserves it... but we're not fooling anyone. Yes, I still want to believe that good things are yet to come, but my definition of "good things" has been largely readjusted.  We both have new scars inside and out. We changed. Forever. There's no going back to the life we had B.Z (Before Zach), and there's no "getting over it", because this is not something that we need to get over it. We need to learn to live with that, to embrace it and grow from it, and hopefully use it as a ministry to reach others. We took the red pill and saw how deep the rabbit hole goes, we had this "Matrix Moment" ,  saw "reality" and there's no going back after that.

I will embrace grief, take time to heal, and I will keep biting a whole new elephant. One pill at a time. One bite at a time.





Tuesday, August 28, 2012

When Silence Strikes


I'm off work today and other than Hunter barking in the backyard, the house is pretty quiet. It's always times like this when I'm most likely to have my meltdowns.Grief takes over and I'm just left with a bunch of "what if's"? rambling around in this crazy head. 

This house is still a wreck since we had a major leak about a week ago, and we're still waiting to get the floors installed again. All I can say is that if this leak had happened about a year and a half ago, probably I would have been bananas by now, and would be rushing everything to get it done PRONTO. I still have my episodes like that though; but they too shall pass since I'm proud to say, I have shifted my priorities. First and foremost: BLOG, then leave the pile of laundry for later or whenever I feel like it; skip the trip to the grocery store, and figure out what kind of meal can get put together with some old onion, ketchup and maple syrup. Come on, there has to be something, at least on Pinterest.

It is in the midst of silence when I still catch myself dreaming about what I'm going to do when I become a mom, is that fraction of a second when I'm half-asleep and half-awake when I have to stop myself  I retell myself the whole story: Wait a minute. You've been a mom. It's done. Then a glimpse at my stretch marks and the c-section scar confirms it. Zach happened and it's over now, the factory is closed and there will be no more pregnancies. Then I get coffee and get on with the day. 

This is now like the aftermath after a big war, and then there's silence. People has moved on, because as hard as it can be for me to digest, the world is not Zach-centered and people has lives. Thing is, I haven't really moved on. Probably I never will. I may go on and about making up new hopes, new dreams, new somethings, but you don't really move on. I catch myself bending my wrists and my index finger as Zach would. I still try to type, serve coffee or fold the laundry with my wrists bent and sometimes I walk with my feet clubbed (when nobody is watching) , kind of in Zach's position to see if he could've done that. Dubiously sane, I know but I just don't seem to be able to let go, and part of me doesn't want to.




              "Silence, what I always hear, after crying, lots of Silence" 




























What's Up With the Entitlement?


When we found out that we were pregnant, just as any other couple would be, we were ecstatic. The joy just could't fit in our chests. Do you want a boy or a girl? people would ask, and I blissfully unaware of what was heading our way, would respond with the pregnancy mantra that I so much came to hate: We don't care, as long as he's healthy...

Then the news came, and dreams were shattered. Why even in the realm of disability, he would be one of the worst case scenarios. "You have to pray" would say some, "You have to think positive" would say others. Now, in retrospective, I don't believe that this happened because we didn't pray hard enough, or because we weren't "positive" enough.It's not even something that God allowed to happen. It's just now that I can pin point exactly what had set us up for added grief, and it just made it harder (at least for me) to bond with my child. One word: Entitlement.

As long as he's healthy... Well, Zach wasn't, So what?  We didn't love him any less because of that. You are a very strong woman, I don't know what I would've done if I was you. Translation: I'm so glad that I'm not in your shoes. You can't be so out of luck that it's the worst case scenario...Well, we were worst case scenario. So what? there's still that one word flying around and rubbing it in: Entitlement.

What really set us up for added grief is the false belief that we deserve the best because we are "good people". Full disclosure, I believe that I was willing to accept nothing less than an all and all perfect child with some super powers added, because I deserved nothing less; because I took my vitamins and all the prenatal testings were "normal", we've done everything by the book and I loved children. (Mind you: Perfect children that never trow tantrums and never get dirty and always eat their veggies.) The same goes when it comes to jobs, marriages, material stuff. We grow to believe that we deserve nothing but the best. I grew up in house filled with love, with all the "stuff" that me and my sisters needed and then some. Why would things be any different now? Even though I started a relationship with Christ, I became spoiled, "I praise you Jesus as long as you keep pouring down the goodies"  Until he didn't. Until our faith was shaken, until we were left with our faces on the ground praying: Make our boy swallow or breath or what have you.

Even though it's not like: Before Zach I was a horrible person and now I'm a saint. He taught me to just STOP. COMPETING. STOP.COMPARING. He was in his own timeline, so was the preemie next to him, so was I , so was David, so were the doctors and nurses. God didn't promise a life without problems. What he promised was to be with us all the way, because light and dark are alike to him. Before Zach, I never had a really big problem. Actually, I never had  a problem at all. It was all about getting as much stuff out of this world as I could get. Until it wasn't. Until life served me a big slice of humble pie that was bitter sweet to swallow.

During Zach's stay in the NICU, I also had big financial concerns about how in the world we were going to make it? but at that time, life showed me that even if I had all the money in the world, even if I had a million dollars (which I don't), this wasn't about money. None of that would've matter, it wouldn't have been enough to grant us our biggest heart desire: Seeing our boy blink.

This was about giving thanks for what we actually had. Yes, he couldn't blink, but he had a lovely face. He also had two arms, two legs, ten fingers, ten toes and he was aware of the love around him. Yes, David and I were under slept and on edge, but we were together. Yes, nobody in the world can even imagine what we went trough, but there was people around us willing to bring us lunch to the Nicu, willing to pray for us, and just to be there supporting us in any way that they could. Yes,  I don't have exactly my dream job, but they went above and beyond to accommodate me and they were extremely understanding during this tough times, my job also allowed us to cover most of  Zach's expenses and we got him the best doctors in South Texas.

I'm still learning to shift from being entitled to be grateful. To just take life as it comes, and just to appreciate what I actually have, and that sometimes include lovingly embrace what I don't have, and be grateful, since Zach is healed indeed.




About 20 weeks pregnant,
ready to teach Zach some  multiplication facts "in-utero"
Zach contempt and having a blast in the NICU
with his mobile, teaching me some life-facts.



Tuesday, August 21, 2012

The praise of Folly

Praising and accepting the madness that comes with a husband with a back that is not getting any better, more trips to the doctor, and a huge leak in our master bathroom that went on to our bedroom and ruined the whole wood floor.

Lots of changes in my to do list, just to give an idea this is how my to do list has changed just in a couple of weeks:

1. Last week: Get a fence for Zach's garden.
 This week: Zach's black fence ended up looking more like some creepy Halloween decoration. Totally a no-go. Get that fence out pronto, return it and just leave the whole fencing issue on the side for now. 

2. Last week: Finish the so called office Makeover. 
This week: What initially started as just a quick office makeover is now a whole house makeover. Since I'm at this madness already, I might as well go all out and paint our bedroom, change the doors and the bathroom sink, paint the bathroom, rearrange our closet space and God knows when I will call it a day.

3. Last week:Put an end to the clutter on David's desk. 
This week: Clutter in a desk? Really? Was that my biggest problem?  How about accept and live with the fact that since we are now sleeping in the office, every room in this house is now a wreck.Officially. 

4. Last week: Accessorize office to give it a "man's cave meets modern style look". 
This week: You've got to be kidding me! Let's focus on a new design concept: "make this house appropriate and safe for human living."

5. Last week: Dye my hair (Not by choice, if this goes on untouched I will end up looking like Pepe Le Pew). 
This week: Pull off the Pepe le Pew look somehow, maybe with some personality. If that fails, wear a headband or cover that stubborn white hair with mascara as a last resource. Girl you have other stuff to do.   

I'm getting used to this thing of planning one thing, to end up doing something totally different. That pretty much sums up my life sometimes. I still insist in trying to have some control; when indeed I just don't seem to have any. Things Happen. Shit Happens. Whether if I have my list or not, whether if I had planned for this or not.

On the bright side, I like to stay busy and have things to keep my mind occupied and out of grieving mode for a while. We also bought a lucky craigslist find, a beautiful wood desk that I plan to repaint, and give it a face lift and since my house is already a mess, I should just keep adding to the mess and join and enjoy the party, and get... Busy.





Tuesday, July 24, 2012

Genetics 103: Questions & Answers (Hopefully)

I'm well aware of the fact that my cell looks more like an over-easy egg, but I hope this helps to clarify  the following (and last set of) questions:

1. Are neuromuscular problems genetic in origin?

Not all neuromuscular disorders are genetic, but there are many that are. Some examples of genetic neuromuscular disorders include spinal muscular atrophy and the different types of Charcot-Marie-Tooth disorder. These conditions can be a challenge to diagnose, but it is important to determine when a neuromuscular patient may have a genetic cause, as then it can impact other family members.

Answer by: Angela Filose: I work as a full-time genetic counselor for a Kaiser hospital, working with prenatal, pediatric, and hereditary cancer patients.

2. What is mitocondrial DNA, where did it come from and why is it needed? 

In humans, mitochondrial DNA spans about 16,500 DNA base pairs, representing a small fraction of the total DNA in cells. Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function. It is inherited solely from your mother. Many genetic conditions are related to changes in particular mitochondrial genes.

Answer by: Anna Rossoshek, M.S., M.B.A.: I work in the Chemical Genomics Branch at NCTT/DPI. My work encompasses a broad scope of functions that allows me to utilize my education, both scientific and business management, in addition to the experience I have gained through many years as a Biologist in an NIH Intramural Lab and as a Scientific Administrative Analyst in the Division of Extramural Research at NHGRI. I currently assume the role of a Project Manager for the four main scientific sections of the branch. Those sections include Tox21, RNAi Screening, Chemistry Technology Development, and Assay Development and Screening Technology.
  

3. Can a genetic test such as whole exome sequencing detect mitocondrial disorders?

Good question! Mitochondrial diseases can be caused by mutations in either the mitochondrial genome (a small circular chromosome found within the mitochondria) or by mutations in the nuclear genome (on the chromosomes found in the nucleus). Whole exome sequencing is typically done in such a way that only the exons in the nuclear genome are captured and sequenced, and thus, will only identify some of the mutations associated with mitochondrial disease. Some labs will also do a separate analysis of the mitochondrial genome to identify those mutations.

Answer by:  Hooker, Ph.D., Sc.M.:I am the Associate Director of the Johns Hopkins Bloomberg School of Public Health/National Human Genome Research Institute Genetic Counseling Training Program and a contracted staff scientist within the Social and Behavioral Research Branch of the NHGRI. Prior to entering the field of genetic counseling, I completed my Ph.D. in Molecular, Cellular and Developmental Biology.

4. Do you see the whole exome sequencing test being available to the general public and covered by insurance companies any time soon?

Great question. I don't see this happening in the very near future, but I do see the possibility for public access to whole exome sequencing becoming a reality in the next 20-30 years. It may still be too expensive for many at that point, but also available to many. 

Your question about whether insurance companies would actually pay for this testing is complicated. I think we would have to prove that whole exome testing would be useful to our medical providers. That is something I think will take much longer than 20 years. Genetics is complicated by the fact that our technilogical advances, our ability to see information, is improving much faster than our ability to understand that information. 

That takes much more work since we are talking about how our genetics affect our body's functioning, and our bodies are very complex. We also have to take into account how our bodies are affected by the environment we live in. Lastly, we need to understand the social and ethical implications of being able to get this information. Is it something, as a society, that we want the general public to have access to? There are many of these discussions going on and many more that need to happen as we develop these technological abilities. 


Answer by: Ami Rosen: For the past 10 years I've provided genetic counseling to people at risk for developing Huntington's Disease. I am also a neurogenetics research coordinator, well-versed in the ethical concerns of human subjects research and DNA banking. 

5. Do you see things such as "genetic discrimination" happening in the near future?

They are definitely possible, so that's why it's important that we take measure now to prevent them through legislation, promoting awareness, and developing guidelines for the professionals involved. Right now, individuals are protected by GINA (Genetic Information Non-discrimination Act), where health insurance companies cannot discriminate someone based on his/her genetic testing results. In the future, we may also move towards establishing legislative protection from genetic discrimination from other sources, like disability insurance, life insurance, etc. 


Answer by: Julia Su: I am a second year genetic counseling student from Sarah Lawrence College (graduate May 2012). I have rotated through several genetics clinics in the New York area and Toronto. I am highly passionate about genetics, as well as the integration of psychosocial counseling in clinical genetics services.

6. Is the structure of the DNA molecule something that was originated randomly? or was it designed? 

The structure of DNA (the double-helix) is the way it is out of necessity. This structure, which resembles a twisted ladder, makes it possible for each DNA strand to be precisely copied. These copies, which contain the same genetic information as the original DNA strand, can then be passed along to an organism's offspring. I'm not sure when DNA first evolved into its double-helix structure. Sounds like a chicken-and-egg problem!

Answer by: Becky Clark: I am a genetic counselor and research associate in an ophthalmic genetics department. I counsel patients on inherited retinal disorders and manage a repository and database for genetic testing research. 

I wasn't too happy with the last response, but in all fairness, that is a whole other debate worthy of it's own chat session. I really believe that I answered my own question better in this post: Fearfully and Wonderfully made.

With that said, I'm very grateful for the opportunity to chat with the experts in the subject because it did help me get some more understanding over the things that happened to us, it had a great therapeutic value for me, I hope that it has the same value for you, if you stumbled upon this post.










Genetics 102: Questions and Answers (Hopefully)

This are some more questions and answers, I decided to chop it into smaller bites since all this information can become a little overwhelming. (At least it felt that way for me.)
Also, if you're new to the whole thing, I did find from our experience that there are different types of genetic tests available, looking at different pieces of information, this are the ones that we had done:

1. FISH test: A preliminary test that looks into the most common pairs of chromosomes that present problems: 13, 18, 21, X,Y.
2. Amniocentesis: Test used to verify that there are indeed 23 pairs of chromosomes. 22 autosome pairs that are the same for males and females, and the 23rd pair which determines the sex. XX for female and XY for male.
3. Microarray: Zoomed in look at the chromosomes. Able to find more rare genetic conditions.
4. Whole Exome Sequencing: When all else fails and you still have no answers. Very expensive, not covered by private insurance yet. We didn't get to run this test for our boy.

Hope this preliminary info brings some background to the following questions:

1. What are the top 5 most common myths of genetics?

What a fun question! Off the top of my head, I'd say: 1. Genes can skip generations. 2. Having the same blood type as your spouse will cause birth defects 3. Scientists can know everything about you by looking at your DNA. 4. Red heads are going to go away due to evolution. 5. Genetic counselors will tell expectant parents whether or not to keep their baby.

Answer by: Diane Masser-Frye: I work at a Children's Hospital with families of children with genetic conditions. I also consult with an agency that provides services to people of all ages with developmental disabilities. My role is to help these individuals and families understand the role of genetics in their families and how their conditions are inherited.

2. I understand that the nucleus of the cell contains the DNA molecule. How do you jump from there to genes and chromosomes? 

Genes are contained within DNA. So, they are in the nucleus, too. Chromosomes are the forms that DNA take during certain times in the cell cycle.

Answer by: Kris Wetterstrand, M.S.: I work in the NHGRI Office of the Director as the Scientific Liaison to the Director for Extramural Activities. I have over ten years experience managing the NHGRI grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. My background is in population genetics and molecular evolution.

3. Are all disorders developed because of problems with a person's chromosomes?

Not all disorders are because of chromosome problems. Some disorders are because there are too many or not enough copies of a whole chromosome, like Down syndrome. Some disorders are due to a change to a single gene located on a chromosome. But most diseases are complex, and have a number of factors that work together to cause the disease. Some of these factors are genetic, but many have to do with a person's environment and behaviors, like diet and exercise.

Answer by: Rachel Shapira: I am studying genetic counseling at the Johns Hopkins School of Public Health and the National Human Genome Research Institute. I am currently in a clinical rotation at the Walter Reed National Military Medical Center Prenatal Assessment Center.

4. What does the Microarray test looks into? Is it at specific genes? or chromosomes?

DNA microarrays can give us a "zoomed in" look at chromosomes allowing us to see genetic deletions or insertions that can't be seen just by looking at chromosomes under a microscope. The amount of information that can be obtained by a microarray varies depending on the type of array and some are capable of picking up very small deletions or insertions in the genome.

Answer by: Gillian Hooker, Ph.D., Sc.M.: I am the Associate Director of the Johns Hopkins Bloomberg School of Public Health/National Human Genome Research Institute Genetic Counseling Training Program and a contracted staff scientist within the Social and Behavioral Research Branch of the NHGRI. Prior to entering the field of genetic counseling, I completed my Ph.D. in Molecular, Cellular and Developmental Biology.

5. Does the Microarray test look into all the chromosome pairs?

It can. Scientists can set up a microarray to include all of a genome (all the chromosomes) or just parts of the genome (some of the chromosomes). It depends on what scientists interesting in studying.

Answer by: Kris Wetterstrand, M.S.: I work in the NHGRI Office of the Director as the Scientific Liaison to the Director for Extramural Activities. I have over ten years experience managing the NHGRI grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. My background is in population genetics and molecular evolution.

6. Does a normal Microarray result mean that a person does not have a genetic syndrome?

Definitely not. A normal microarray result means there are no obvious (a few thousand bases or more) missing or deleted pieces of the genome. A person can have a genetic syndrome with just one single base substitution, which is not detected using microarray testing.


Answer by: Toni Pollin: I have a background in both genetic counseling and human genetics. I study the role of genetic factors in complex diseases, particularly diabetes and dyslipidemia, and the interaction of genetic with lifestyle and environmental factors. I also co-lead a human genetics PhD program and teach graduate, genetic counseling and medical students.

7. I know more and more about laboratories doing the whole exome sequencing. The question is, is there a benefit of sequencing the whole exome? Knowing that you might get a lot of variants of unknown significance. How do you report to the patient in that case? Sorry, we found something that we have no clue what it is, though you still have to pay thousands of dollars?

This is a fantastic question. Whole exome sequencing is new technology with great promise. We are still learning a lot about how to best use the information gained from exome sequencing to improve medical care. 

Many of the early patient exome sequences have been generated in hopes of identifying the genetic cause of a specific disease, to better guide treatment. Within these sequences, we are also finding variants which are already known to have important implications for other medical conditions in the patients and, potentially, in their family members. Over time, we expect to be better able to predict the significance of different variants, and have fewer "variants of uncertain significance."

Answer by: Gillian Hooker, Ph.D., Sc.M.: I am the Associate Director of the Johns Hopkins Bloomberg School of Public Health/National Human Genome Research Institute Genetic Counseling Training Program and a contracted staff scientist within the Social and Behavioral Research Branch of the NHGRI. Prior to entering the field of genetic counseling, I completed my Ph.D. in Molecular, Cellular and Developmental Biology.

8. How is a gene actually identified within a DNA sequence? is it by matching the entire sequence against it's expected pattern? Or is it also required to be located at a specific position within the sequence?

Genes are identified by matching the DNA sequence against its expected pattern, which means the pattern as well as the specific position within the sequence match.

Answer by: Dana Petry: I am a second-year genetic counseling student in the Johns Hopkins University/NHGRI Genetic Counseling Training Program. I am taking classes in genetics, public health, and psychosocial counseling. I have also rotated through various clinics for prenatal, pediatric, and cancer genetic counseling.

 8. What is the difference between the incidence of something and the prevalence of something?

Excellent point to clarify, as these are often used interchangeably. Incidence tells us about a change in status from non-disease to disease, thus being limited to new cases. Prevalence includes both new cases and those who contracted the disease in the past and are still surviving. In genetics, we usually discuss incidence as the birth rate for a given condition (1 in 50,000 births, for example) and prevalence for the number of affected individuals in a given region (US vs world, for example). 

Answer by: Julie Rousseau: Following many years in clinical genetic counseling, the majority of which was spent in pediatric genetics, I currently work in a laboratory setting. In this position, I interpret DNA results and help providers determine which test(s) are most appropriate for their patients.

More Q&A to come,


















Genetics 101: Questions and Answers (Hopefully)

There's a day for everything, and last April 20Th  was DNA'S day, in which there was an open chat with all the geneticists, microbiologists and people involved in the Human Genome Project. (mind you that their minimum level of education was a PhD.) They were answering questions for the everyday street walker like me, with no more prior knowledge of the cell division than a model of play-doh made in the fourth grade, and a biology class in middle school were I probably was doing more important things like writing a love letter to whoever was my crush at that time. Darn it!

I did jump in the chat with my list of questions, at least the ones that would get a shot at being answered on this side of heaven, I hope and pray that this post reaches someone walking a similar path, because at my times of Goggling myself to death I wish that there had been such a post when I was new to the whole thing. Without more ado, this were the questions and answers from the chat. Most of the questions were mine, but some others were from other fellow chatters, and I though that they were worth the copy-pasting. Unfortunately, I cannot give the credit were is due, since some questions were anonymous, please understand. 

1. When a baby is born with a genetic syndrome, is there anything that one of the parents could have done different to prevent that? 
No, when a baby is born with a genetic syndrome there is not anything a parent could have done differently. 

Answer by: Kelly Donahue. Prenatal genetic counselor. I speak with families that are at risk to have children with genetic conditions. This risk may be based on their family history or be signaled by results of specific blood work or ultrasound during their pregnancy.

2. What are three things that every human should understand about DNA?
In my opinion: 1) DNA is the "blueprint" necessary for life 2) it transmits hereditary information from generation to generation 3) it controls the production of proteins.

Answer by: Sandy Woo: I work with patients and their families who either have a genetic condition or birth defect, are at risk for one or have a risk to have a child with such. I provide education, facilitate genetic testing decisions and psycho-social support.

3. What can DNA tell us about a person? 

That's a good question. Something like 99.9% of our DNA is the same no matter the person. The remaining DNA that's different makes us who we are compared to any other person. 

We also have mutations which alter the protein products of any given gene, and these are what we spend a lot of time and money researching. That's because many diseases either have a single gene mutation that causes them or different mutations that predispose one to certain diseases.

 A genome is the totality of all of our DNA spread over our 46 chromosomes. In the past, if we looked at an entire genome we wouldn't be able to tell much about the person. But now we're getting to the point scientifically that we can analyze an entire person's genome for a relatively low cost and in a shorter period of time. It won't be long that it will be very cheap to scan an entire genome to know every disease risk someone has, but we're not there quite yet. This is where most of science is focused, but note that DNA doesn't tell us many important things about a person, such as their character, values, or insights on life. Those traits are all influenced by genes, but are something DNA analysis will never be able to completely tell us.

Answer by: Ian Wallace: I am a clinical genetic counselor who recently launched a new genetics clinic in a rural area. I see patients for any genetic indication, to include prenatal, pediatric, adult, cancer referrals.
 
4. What are all the things that happen when the cell divides? 

Cell division is a complicated process. Let's think about mitosis, which is where one cell basically replicates itself, so you end up with two identical cells. 

What needs to happen is all of the structures of that starting cell needs to be copied. For example, all of the chromosomes need to be doubled and then halved into each ultimate cell. 

If you remember the process of mitosis, that's where the cell goes through prophase, metaphase, anaphase, and then telophase. The chromosomes become solid, they line up in the middle of the cell in an orderly fashion, and then structures on each end of the cell "pull" the right number of chromosomes to each new cell. And that doesn't even address what happens with the other cell organelles!

Answer by: Angela Filose: I work as a full-time genetic counselor for a Kaiser hospital, working with prenatal, pediatric, and hereditary cancer patients.
 
5. If a "mistake" were to happen, what happens to the DNA that was copied wrong? 

When DNA is being copied, there are different possible outcomes if there is a mistake. The cell actually has a few "proofreading" mechanisms to help fix some errors. For example, there is a group of proteins called "mismatch repair" enzymes, which helps to correct an error where the wrong base pairs are put together (like a G to a T, rather than a G to a C). So in some cases, the cell can correct the error.

Other times, an error like a deletion, a duplication, or a point mutation within a stretch of DNA might happen, and this could be missed. This might be an example where a permanent mutation could then continue with that gene, and possibly could change the function of that gene. 

Answer by: Angela Filose.

More Q&A to come, 




Image from : http://meship.com/Blog/2011/07/27/dna-sent-to-the-cloud/





blogger template by lovebird