Wednesday, June 28, 2017

Project Lead the Way (PLTW) Biomedical Science and Questions

Sometime last school year Becca applied to the biomedical program at Franklin High School and got accepted. She was super excited. 

This program allows students to explore the concepts of human medicine through an introduction of topics such as physiology, genetics, microbiology and public health. Students acquire strong teamwork and communication practices, and develop organizational, critical-thinking, and problem-solving skills as they investigate various health conditions and infectious diseases, examine the interactions of human body systems, and explore how to prevent and fight infection. In Grade 12, students have the opportunity to work on an independent project with a mentor. Successful completion of the program allows students to pursue post-secondary education and careers in the biomedical sciences.

Program of Study
Grade 9 - Principles of the Biomedical Sciences
Grade 10 - Human Body Systems
Grade 11 - Medical Interventions
Grade 12 - Biomedical Innovation PLTWW Biomed CWE

A few weeks ago, she spent 3 1/2 days at the high school for a biomedical camp. The point of the camp was for the kids to meet others in the program, get a feel for the school as well as a feel for the program. Each day was a different topic. Becca loved each day and came home excited about each topic. One of the days was genetics, this led to some questions on her part, I did the best i could to answer them as well as let her read the report from Ian's initial diagnosis in 2012. This answered some of her questions but also led to more questions. With those I reached out to the genetic counselor we used in 2012 with her questions. Here is the wonderful letter she wrote back to Becca. 

Dear Becca,

I hope you are doing okay given all you have been through with losing Ian.  He was a special boy and is remembered by so many people, as I am sure you know.  I don’t know if you remember me, but I worked with Dr. Raymond at Kennedy Krieger and was one of the people who helped to figure out what was causing Ian’s problems.  

Your mom tells me that you’re studying genetics in school now and that you have some questions about the genetic cause of Ian’s condition.  Genetics is a huge topic and there is lots to learn, but I have tried to cover some basics in this message as a starting point.

By now you have probably learned about chromosomes, genes, and DNA.  DNA is a chemical substance contained in each of our cells and it is made up of four chemical units that we call “nucleotides”.  They each have specific names.  We abbreviate the names using the letters A, G, T, and C.  We have more than 3 billion of these DNA letters in our genome, but they are soo microscopically tiny that we cannot see them with the naked eye.  We have two copies of all of our genetic information.  One set comes from our mother (the egg) and one set comes from our father (the sperm).   So we have double of everything, which is designed to give us a backup system in case a gene is broken or not working. 

Clusters of DNA letters form genes, and we give these genes names depending on what they do.  Most genes contain instructions that tell our bodies to make important proteins or other molecules that our bodies need in order to function.  Some genes are responsible for making enzymes that digest the food in our stomachs.  Other genes are responsible for protecting us from damaging UV rays that can cause cancer.  Some genes make up the cells that allow our brains to retrieve memories.  There are probably about 25,000 genes in total and some of them are responsible for doing more than one thing.   Some genetic conditions are caused by mistakes, or disruptions, in genes that play very important roles in our bodies.  This is the type of genetic problem Ian had (more about this below).   Sometimes people call these mistakes “mutations” - that is not a word that I love, but you will hear people use it.

The genes are strung together a bit like necklaces and they are wrapped around structures in our cells called chromosomes.  The chromosomes are the little worm-like things you see inside cells and we have 46 in total (23 from mom, 23 from dad).  Again, double of everything.  The final pair of chromosomes are called “sex” chromosomes.  Men have one X chromosome and one Y chromosome (the Y chromosome is tiny!) and women have two X chromosomes.  Genes on the Y chromosome are what cause men to develop some different features than women.   Some genetic conditions are caused by deletions, breakages, or duplications of chromosome material, in which whole clusters of genes are either missing or duplicated or disrupted.  You might learn about a condition called Down syndrome.  People with Down syndrome have a whole extra copy of chromosome 21, which is a LOT of extra genetic material, so they can have a lot of health issues.   Sometimes if babies have deleted or duplicated chromosomes they are too sick to ever make it out of the womb, and this is how a lot of pregnancy miscarriages are caused.  Ian did not have a chromosome disorder.

The gene that was affected in Ian’s case is called VRK1 and it is located on chromosome 14.  When Ian was diagnosed, we did not know very much about what this gene does, and today we still don’t have a lot of information about it.   Recent research shows that VRK1 is an important gene for the development and regulation of the central nervous system (the spinal cord and the brain) and that brain and nervous system structures cannot develop or sustain themselves without it.   Your mom and dad each carry one broken copy of this gene and one working copy of this gene (not their fault!  These things happen randomly).  You also carry one broken copy and one working copy.  The good news for the three of you is that one working copy is enough to keep you healthy and functioning normally.   However, unfortunately, Ian inherited the broken copy from both your mom and your dad, so he had two broken copies and this is why he was sick.   

Conditions that require two broken copies in order to happen are called autosomal recessive conditions.   You will also learn about dominant conditions which only require one broken copy of a gene, and you will learn about X-linked conditions caused by genes on the X chromosome.   These are each inherited in families in different ways.   Autosomal recessive conditions are usually very rare, but sometimes they run more commonly in populations that have a lot of shared ancestry, like Ashkenazi Jewish people.  We think that the mutation in your family may be more common in families of Ashkenazi Jewish descent.

The specific VRK1 mutation in your family is called c.C1072T; p.R358X.  What this means is that a “C” in position 1072 in the VRK1 gene was changed to a “T”.  This change in the code meant that instead of making a full VRK1 protein, Ian’s body stopped making the protein altogether.  We call this a “nonsense” mutation because the DNA code stops making sense and thus the body stops making the protein it’s supposed to be making.  Since both copies of the VRK1 gene were affected in Ian, his body did not have this protein at all and that is why we think he developed differently.

It is important to remember that we are more than just our genes.  Two children with Down syndrome, or two children with VRK1 mutations, will still be very different from one another and there are many other things that affect our health and how we grow and develop, such as our environment and our different combinations of other genes.  But some genes have very important functions and when we see mistakes in these genes they can have serious consequences for health.

We do not expect you to ever have any problems like Ian, because your fully working VRK1 gene is doing the job you need it to do.  However, when you decide to have children of your own, it will be important for your partner to have testing to see if he carries any mutation in the VRK1 gene, especially if he is also Jewish.   There are other genetic diseases that run more commonly in Jewish families, such as Tay-Sachs disease, so it will be important for you and him to have carrier testing for these conditions as well.

Here are some links with visuals corresponding to the concepts discussed above.  I hope this answers some of your questions and isn’t too basic or too complicated.  Please feel free to get in touch if anything is unclear.

All the best,

I'm sure over time more questions will come up and we will do our best to answer them as well as help her to continue to deal with her grief. She is doing ok after this weekend but the unveiling brought emotions to the for front for all of us. We continue our grief therapy as well as private therapy to deal with the loss of Ian and the impact it has had on our lives individually as well as a family. As always, thank you to all who have been there for us over the years, especially this pass one as we have our year of firsts. 

Thursday, June 22, 2017

Amazing Middle School Career

We are so proud of Becca. Her report card showed up today, all A's and B's. Going back and looking at her middle school career, she made honor roll ever quarter...way to go. Keeping her grades up over the years while continuing to deal with our journey is amazing. We love you with all our hearts and can't wait to see what your future holds.

On the last day of school, I sent an email to all of Becca's teachers from middle school:

We wanted to say a special thank you to all of Becca's teachers from Franklin Middle School. As you know she didn't have the "normal" family and middle school years, however each and everyone of you played an important role on helping her to overcome all she had too. We all worked together to make sure she developed the skills along with the resilience she would need to get to where she is today. Each year was difficult in its own right due to Ian's ups and downs and never knowing when he would pass. With that happening so early in her 8th grade year, you all took her under your wings to make sure she would have a safe place to be dealing with her grief, thank you for that. Please know Franklin Middle will hold a special place in our hearts for all you have done for our family over the last 3 years.

Have a wonderful summer and continue to do what you all do so wonderfully, teach and care for the kids.

I heard back from a few of her teachers and I wanted to share the wonderful things they had to say:

Thank you for your kind works. It was my pleasure to support her during her experiences at FMS. Becca is a wonderful, young woman who will continue to persevere. I look forward to hearing about all her accomplishments as she progresses through high school.

I am very touched by your email.

Thank you for your kind message, and it was great having the opportunity to work with Becca in 7th grade. I know that she will do great things in high school and in the future to come!

Thank you for the pleasure of teaching her!

Thank you for your kind message. Please know that you and your family will also be in my heart.

Thank you very much for your email. Your family has been in my thoughts, especially this year. Becca is such a wonderful student and person! Her strength and personality I am sure will lead to a bright future! I wish her the best of luck as she continues into high school.

It was a pleasure to teach Becca. I wish her the very best in the future.

Friday, June 16, 2017

How to Love Someone Who is Grieving Their Child

Found on

When someone you love has experienced the loss of a child, it's hard on everyone. They are engulfed in a sea of unbearable pain and grief and sorrow while you may be struggling to stand beside them, wondering what to say, what to do, and what they need. You love them dearly, but you don't really know what they are going through and you don't know what to do.

Maybe you're grieving too.
Maybe you're suffering as you witness their suffering.
Maybe you feel helpless.
Maybe you find yourself saying all the wrong things because you don't know what else to say.

Maybe you want to love them through this, but no one taught you how to do that.

It's ok.

Most of us don't really know how to navigate this thing called grief. They don't teach Grief 101 in high school (although, perhaps they should!).

In an ideal world, your heartbroken loved one would be able to say, "Here, this is what I need. This is how you can help me." Unfortunately, that's generally not how it works. They have been crushed by a devastating loss and, chances are, they're giving everything they have to simply get out of bed in the morning. Trying to articulate what they need and what kind of support they want probably feels next to impossible.

Fortunately, loving a grieving friend or family member isn't as complicated as it can seem. Generally, it's simply about being a compassionate and kind human.

First and foremost, show up. Be here.

Show up at their door. Run errands for them. Do their laundry. Make them meals and sit with them to ensure they eat (many times in early grief people lose their appetite and don't eat regularly). Lay on the bed and hold them while they cry.

Continue to show up for months or years - this is a lifetime loss and they will need you for a lifetime. Text them. Call them. Send cards. Remember birthdays and anniversaries of their child's life. Help them plan birthday parties and holiday remembrances and show up for death anniversaries. Mark them on your calendar so you don't forget - because they won't. And they won't forget those who show up for them.

You will likely say or do the wrong thing at some point. But if you are willing to keep showing up and work through the discomfort, that's what will matter. That's how you'll help.

Grief is not short lived. Nor is it linear or simple or logical.

Grieving a child takes a lifetime. We love our children for a lifetime and we will grieve them for a lifetime. Society likes to tell us that after a certain period of time, grief should be completed and we should be ready to find "closure" and "move on."

To be quite honest, if you buy into it that way of thinking, you will struggle to be able to support your loved one as long as they will need you to.

Your friend or family member will grieve far longer than you will want to hear about it or be around it. This is where they will need you to be patient and understanding.

Those who grieve their child(ren) will eventually find a way to live with that grief and that aching hole in their life, but they will never stop missing their child or longing to hold them. Birthdays and holidays and anniversary dates may be painful and challenging for the rest of their life.

When you find yourself tiring of their grief or wanting them to "get over it already," remember - they are far, far more exhausted and sick of grieving than you can even imagine. This is when they need you most to keep showing up.

While you might be struggling to know what to say, it's likely your loved one really wants someone who will listen.

Really, truly listen.

To their fears. To their grief. To their doubts and guilt and regrets and questioning. To the part of them that feels like they've failed their children. To their anger and their rage at the injustice of their children's lives being cut short. To the urges of grief that make them feel crazy and abnormal.

Let those you love simply talk with you and be heard without judgment or false optimism. Don't try to fix it or to help them feel something different - just listen.

Listen and when you want to object to something they are saying, or inject your own thoughts, stay silent and listen even more.

Listen and then simply tell them that you love them and you are here.

Here's the honest truth: For a while, your friend or family member isn't going to be a terribly great friend or family member.

They probably won't always show up for holiday celebrations or birthdays or fun outings. They'll probably forget your birthday and anniversary and other special occasions. They may not feel up to attending baby showers and children's birthdays or being around babies and kids at all (this particular thing might last for years).

In that first year after their child died especially, they will probably forget things you told them or make plans and either forget about them or cancel at the last minute because they couldn't get out of bed that day.

When you complain about every day matters like being tired or your child acting up or the annoying co-worker you can't stand, they may not engage in the conversation the way they used to or may tell you that you're overreacting. It's not hat they don't care about your difficulties, it's simply that what they've experienced is so overwhelmingly huge everything else feels small and meaningless in comparison.

So, when they can't be the friend or family member you remember or want them to be, forgive them. They're still learning how to navigate life after the entire landscape has changed - not unlike being dropped in a foreign land with no map and no way to communicate.

However long you may have known your loved one or how well you might have known them, be prepared to get to know them all over again.

The loss of a child changes us in irrevocable ways.

Your friend or family member isn't the person they once were and they will never fully be that person again. Grief has forged them into someone new.

Don't be surprised if they don't respond to things the way they once would have or if they suddenly aren't interested in things they used to love or if the beliefs about the world they used to hold so dear are ones they cannot abide by anymore.

No, they won't be the person you remember and loved so very much. Grief will change and morph them into someone new - and even that will change and morph again over time.

But don't give up on them too quickly. They may not be the person you knew, but you might really love the person they have or are becoming.

Take time to get to know the new post-loss them.

Finally, if you do nothing else, remember with them.

Help them remember their child through the years and comfort them with the knowledge that their child has not and will not be forgotten.

Share memories with them. Say their child's name. Remember their child birthday. Honor them on the holidays and for Mother's and Father's day. Donate in their child's name. Read articles like this one and discuss it with your friend or family member.

Give your loved on the gift of remembering their child. It's the greatest gift you can give.

And above all else, love them. Love them so deeply and openly and clearly they can't help but feel it radiating from you.

They need you and they need that love.

Love them fiercely.

Tuesday, June 13, 2017

Moving On Up

This week has been a lot of good stuff. Finals Monday and Tuesday.  Wednesday was the 8th grade trip for a National Harbor boat ride on the Spirit of Baltimore; lunch, dancing, and picture taking.

On Thursday was rehearsal and awards ceremony. Becca was nominated for the The Treuchet-Crumbaugh Citizenship Award which is giving to students who display an altruistic character, consistently helpful and is an "all around good student". The 8th grade teachers nominate students and then the faculty picks one boy and one girl. From the 400 8th graders, Becca was one of 37 kids nominated...Becca and her friend Jake WON the Citizenship Award. We were shocked and thrilled. Her reaction when she went to receive her award was priceless. It was an exceptional day celebrating her.

Friday was the day, Promotion Ceremony, Moving on Up to High School. Hard to believe we were going to have a freshman in high school. It would be a bittersweet day, but one of celebrating Becca. 

Wednesday, June 7, 2017

A Belated Birthday Party

It took a while to get a date down that would work for Becca and the wonderful Chai Lifeline volunteers we are close with, but finally we did, Sunday, June 4th. It was small but meaningful...4 volunteers, Becca, Brian and I went rollerskating. Well, some of us skated and the others watched. Rollerskating is hard work but lots of fun. We sang happy birthday,  had cup cakes and Becca got a few things to take to camp with her. When we were done, we went outside and did a balloon release wishing Ian a happy belated birthday. 

Sunday, June 4, 2017

A Photo and A Story

Every photo has a story behind it. Ian had many caregivers in his life, one of his first ones was Alyssa, his camp counselor from Camp Milldale. Alyssa was with Ian for 3 summers and would continue to visit and spend time with our family after she moved onto her teaching career. The other day I got an email from her with this amazing photo.  It brought back so many wonderful stories of their time I asked Alyssa if she was game to share the story behind  the photo. In Alyssa's words...

One of Ian's favorite games to play when I came to babysit or visit was doctor, and of course, he was the doctor. I knew exactly where you kept the doctor's kit in the basement because I was always immediately sent downstairs to get it when I walked in the door. In the earlier years, I would lie down on the couch and Ian would use the various tools to examine me or give me shots. I underwent at least 20 "surgeries" in his capable hands...or should I say maybe not so capable because at least once or twice he forgot to sew me back up or put my brain back :-) Later on when he was not as mobile, he would still boss me around, telling me which tools to hand him and what to do with them. Then it was my own fault if my brain got left out of my head ;p When I think about Ian, this is one of my favorite memories. 

Thanks for sharing Alyssa and putting a smile on our faces with this wonderful photo and story.

Friday, June 2, 2017

Memorial Plaque

A bronze plaque listing the name of the departed and those who have established the memorial is permanently affixed to the rear wall of the Sanctuary in alphabetical sequence. The bronze plaque also insures that the name will be listed on our website under heading of Perpetual Memorials, and the name is read at services on the actual day of the yahrzeit. In addition, newly established bronze memorial plaques will be dedicated on the second day of Shavuot

Thank you to my co-workers at Chizuk Amuno for purchasing this for us.
Approximately 3 weeks ago, Brian, Becca and I came up to the Sanctuary to hang Ian's plaque as we wanted to have a private moment when this was done. We did not feel we would be able to handle the service on Shavuot, however, Nana and Pop were able to attend and said the service was wonderful as was the sermon made by Rabbi Shulman. I asked Rabbi Shulman for a copy of his sermon so I could read it...wonderful it was. The basic premise of his sermon is that for every plaque which has been dedicated on Shavuot, they are a "one of a kind, unique people whose love and pride meant everything to us. Whose memories and lives continue to bless us with meaning and goodness. Memorial plaques represent the people who matter most in our lives. They are symbols of love. Signifying our loved ones and their lives, our memories and their legacies. All of which continue to have meaning for each of us."