Once Upon A Gene

Neena Nizar and the Jansen's Foundation Feb 27, 2020

Show notes

ONCE UPON A GENE - EPISODE 019

Neena Nizar and the Jansen's Foundation

My guest today was misdiagnosed for decades and now she shares a diagnosis with her two young boys. They were all born with an extremely rare disease called Jansen's Metaphyseal Chondrodysplasia. With this disease, the body loses its ability to form bone properly and numerous surgeries are often required to correct the bones. Neena Nizar moved her family from Dubai to America to get the help they needed for this disease. She is a huge advocate, creating the Jansen's Foundation and working with doctors and researchers to find a cure for this disease. She's working tirelessly to give hope to so many in the rare disease community.

EPISODE HIGHLIGHTS

Tell me about your story of diagnosis with Jansen's.

I didn't know I had Jansen's for 32 years. Before I got married or had children, I was born and raised in Dubai in the Middle East. I was born in the 80's before there was Google and before there were experts or rare diseases on the radar. I was misdiagnosed several times as a child with Polio and Rickett's and all sorts of other bizarre conditions. It was hard for my parents to know what was wrong with me. They did know I didn't have any of the diagnosis we were being given, but lacking the information, they didn't know what else it could be. Not knowing and just going by what the doctors said we had to do, that's what we did.

Is your experience as someone with a disability, the same one as your kids, a gift that you can give them perspective?

I feel like it's a double-edge sword. Yes, I have real empathy for my children because I've been through a similar situation, I've been through so many surgeries as a child, I've seen doctors around the world. I have to really understand that my children are not me and I am not them and I need to understand that as I parent, some of the reactions my boys have are not always reactions that I would have as a child. I have to keep constantly reminding myself that they're their own individuals and even though they share the same condition, they experience things in a different world and environment. I respect that, I have to learn to understand that and try not to impose my character on them, but allow them to blossom as individuals, and also independent from one another. I don't think it's easier to parent them because I have this disease as well. I think it's harder in ways and easier in ways. We don't have a treatment for them and we're in the same boat as I was 30 years ago, so these are the hard realities I have to accept, face and learn from– and then also change.

Are all 30 Jansen's patients in the patient research?

There are 30 people in the world since the time of the disease's discovery, but right now there are only 10 people with this disease. We're hoping that all of them will be in the trial.

CONNECT WITH NEENA NIZAR

The Jansen’s Foundation Website: https://neena-nizar.squarespace.com/

Email: info@thejansensfoundation.org

Facebook / Instagram: @thejansensfoundation

Twitter: @neenanizar

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Distressed Genes Aren't Just A Fashion Statement Feb 20, 2020

Show notes

ONCE UPON A GENE - EPISODE 018

Distressed Genes Aren't Just a Fashion Statement

Self care is more than a buzzword or a good intention. Synthiea and I are discussing how we create space for self care, mental and physical health and how doing small things can make a big impact.

EPISODE HIGHLIGHTS

Here are some things you can do to manage stress, take care of yourselves and find some calm in the tornado that is parenthood with a child with special healthcare needs.

Sign up for a meal delivery subscription

This varies your menu so you're not eating the same things all the time and the meals are typically quick and easy to prepare.

Carve out some alone time

Even if you simply wake up before anyone else to have a quiet morning cup of coffee, find time to be alone.

Wind down at night

Take time before bed to catch up on a tv show or to catch up with friends.

Set boundaries with stress

If you're dealing with a stressful situation or an upcoming event that feels stressful to you, say no to those around you who take an additional toll on your mental health.Say no to things that bring up emotions you don't have time for or situations that wear you down.

Find a group of other parents to connect with

Whether it's a local group you get together with or a group of parents on a social media platform, find other parents you can turn to who get it.

Learn to breathe

Learning to breathe properly is a skill that can help to calm yourself down and refocus. In a high- stress environment, this is an easy tool to use to bring your anxiety and heart rate down.

Find the humor in your reality

Use sarcasm for self-care, calling the hospital the spa for example. Where that fails, there's antidepressants!

Skip appointments when needed

Sometimes you just don't have the energy to get to appointments and it's okay to have those days. Don't feel bad about it. Sometimes your kids need a break too.

Do a detox

If healthy eating hasn't been at the top of your self-care list, do a detox to reset your system.

Take a walk

Get out of the house and get some fresh air.

Pamper yourself

If you like to take time to get your nails done, make some time every couple of weeks for some pampering. Throw in a facial and spa day too while you're at it!

Tune out the world

Put on your headphones and tune into something that makes you happy– your favorite playlist, podcast or audiobook.

Try journaling

Journaling can be a therapeutic way for you to process through or purge thoughts.

Keep a neat home (or don't)

If added mess around the house contributes to your stress, tackle small projects that make you feel better like cleaning the kitchen or organizing a drawer. Find quick tasks you can complete in ten minutes or less that offer a big emotional return.

Accept help

If someone wants to do something for you, let them help you. It makes them feel good and it gives you a break. People, in general, want to take care of one another so let it be.

I want to hear from you if there's something you do for self-care that we didn't cover in this episode. Let me know on Instagram, what is something that someone could do for you that would make a big impact on your day?

CONNECT WITH SYNTHIEA

Synthiea Kaldi on Facebook: https://www.facebook.com/skaldi

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New in the Family: Ford and CTNNB1

The Value of Genetic Counselors Feb 13, 2020

Show notes

ONCE UPON A GENE - EPISODE 017

The Value of Genetic Counselors

Podcasts have played a huge part in finding community and they’ve served as a way of educating myself. I loved Eleanor Griffith's mission in her podcast, Patient Stories. After being a guest on her podcast, I emailed her a few months later and asked for tips to get my own podcast off the ground. She was so gracious with all her shared wisdom. In addition to her podcast, Eleanor is a Genetic Counselor and Founder of Grey Genetics. I've asked her to join me for this episode to discuss and share her expertise on the importance of genetic counseling.

EPISODE HIGHLIGHTS

What does a Genetic Counselor do?

What a Genetic Counselor does depends on the setting they work in. In terms of a pediatric setting, Genetic Counselors will often work with a Medical Geneticist as part of a team in a hospital. The Genetic Counselor will meet with the family, get information, explain testing options, go over test results. The Medical Geneticist will come in for a portion of that appointment to do a physical exam as well.

For parents that don't yet have a diagnosis for their child, what would you say to those parents who are hesitant in seeking out your services?

For everything in life that has an advantage, there's a disadvantage which is true of genetic testing. The potential disadvantages can vary a lot depending on the reason for testing and the specifics of the situation. In a prenatal setting, testing for some people is personality dependent. Some people think the more information, the better, knowledge is power and they can make informed decisions. For others, they don't want the information, it wouldn't change anything and would only stress them out. In pediatrics, there's fewer disadvantages because you already have a child who has special needs or developmental delay and a diagnosis can help with receiving the needed services. People may hesitate to avoid a diagnosis being labeled, but it can help in finding community and can provide medical management direction.

How has your job changed since the boom in genetic testing and it becoming more accessible, more affordable and more talked about?

I graduated in 2011, so in that sense I'm a newer Genetic Counselor and some of those changes were happening when I was graduating. I've also jumped around to several settings, and changes affect varying settings differently. Overall, I'm seeing more genetic testing driven by sales and marketing and there's much more direct-to-consumer testing. Tied to that is a lot of people interested in ancestry testing and certain health concerns, which is murky and mostly unreliable. In doctor's offices, sales reps are present to provide genetics education, but from a commercial angle.

What are your thoughts on the bill in front of Congress right now to make a lot of the research you would access in preparation to give a diagnosis, available to the public?

CONNECT WITH ELEANOR

Grey Genetics

About Eleanor Griffith

Email: podcast@greygenetics.com

LINKS AND RESOURCES MENTIONED

Patient Stories

Genotypecast

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The Lucky Few Feb 06, 2020

Show notes

ONCE UPON A GENE - EPISODE 016

The Lucky Few

I'm super excited to be talking with a super rad dad, Jordan Steele. He married his high school sweetheart and is the father to five year old twins and an almost one year old son who has down syndrome. He's genuine, fun and a lover of life. Jordan is also an emmy winning meteorologist and host on KING 5 Seattle.

EPISODE HIGHLIGHTS

Tell us about your son Kinlin, who has down syndrome.

Kinlin is 11 months. We had a great pregnancy, he was healthy and we didn't do genetic testing since everything was going well. When he was born, everything was still great and it was about 6-8 hours after he was born that the nurses came and checked him for down syndrome. You have all these things playing in your mind, but after processing through, crying, praying, talking to friends and family, we had a aha moment where we realized we had been given a gift. That next morning, we were filled with complete joy, we had friends and family come and they gave us nothing but positive embrace and from there everything was great. You still have the scariness of doctors telling you things, the what-if, thoughts of what could happen. Your mind starts to ramble again and you get caught in a tornado of negative feelings. You have to change your mindset and perspective. Things have really been so great. He's healthy and happy. He had a heart palpitation, so we still have a heart doctor. He was on oxygen for a couple months trying to get his lung strength and his lungs are good now.

Do you think knowing Kinlin's diagnosis would have helped to better prepare?

No, if we were to know, I think we would have freaked out more, done more research and it would have taken a lot longer to come to the conclusion of pure joy. I think if we were to know, there would have been a lot of time before he came of stress and worry, which could have affected him. Ultimately, it causes internal conflict that you don't need. For some people it's helpful, but for us I don't know that it would have been.

LINKS AND RESOURCES MENTIONED

The Peanut Butter Falcon

Northwest Center

KING 5 News

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Rare Disease Film Festival

Films and Fatherhood Jan 30, 2020

Show notes

ONCE UPON A GENE - EPISODE 015

Films and Fatherhood

Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare disease called Menkes. Daniel is a contributing author to The Mighty and the Co-Founder of the Rare Disease Film Festival.

EPISODE HIGHLIGHTS

Tell us about your son Lucas.

The good news is that he has just turned eleven years old. He was diagnosed with Menkes at age one and we've been dealing with this rare disease journey for ten years. It's unfortunate that had he been diagnosed immediately at birth, he could have had a very different outcome. He could have had almost a symptom free path. Menkes disease is an interesting example of how important early detection can be and that's one of the reasons I try to be so vocal and raise awareness. If you're treated in the first ten days of life, you can be spared almost all of the symptoms. Despite spending the first ten days of his life in NICU for a skull fracture that seemed unrelated at the time, Lucas wasn't diagnosed and treated. Menkes is so unknown, no one thought to look down that line of research, questioning and testing.

What does diagnosing Menkes entail? Is it a simple blood test?

It's pretty easy to spot Menkes if you know to look for it. Things like checking the hair under a microscope helps to discover twisted hair which is a strong indicator. A blood draw can tell you the copper levels are high. Ultimately, you want a genetic scan, but if you have these easier indications, the ATP7A gene can be examined further to reveal Menkes disease.

What is Menkes disease?

If you have a mutation in the ATP7A gene, you don't create the protein that transports copper. Most of us do fine with the amount of copper in our diet and it's not a problem for most people. Too much copper leads to Wilson's disease and too little copper leads to Menkes disease. Copper is needed for developing the brain, your muscles and hair. Lucas has very low muscle tone. He can move his legs, arms, feet and hands a little bit, but not with any control. He can't sit unassisted even at the age of eleven.

What are some words of wisdom you'd share with a family at the beginning of their diagnosis journey?

The hardest parts are at the beginning of the diagnosis. It gets easier with time. One thing that helps is when you find your people and that's probably going to be a Facebook group or even an in-person group. Seek out that community who will understand where your questions are coming from. While a community may not be a source of all the answers, it's a source of comfort and it's often more reliable than your doctor's answers.

LINKS AND RESOURCES MENTIONED

The Mighty

Menkes Foundation

EveryLife Foundation

Global Genes

Menkes Disease: Finding Help and Hope

How Parenting a Dying Child Has Changed All My Expectations

Menkes Foundation Australia

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A Fellow CTNNB1 Mama Jan 23, 2020

Show notes

ONCE UPON A GENE - EPISODE 014

A Fellow CTNNB1 Mama

Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story with us. I connect with her as a mom, going through the same things with CTNNB1, we're both hair stylists and I love the real stuff she shares- stuff we're all living through and not necessarily talking about all the time.

LINKS AND RESOURCES MENTIONED

Parent’s Facebook Group

Proloquo2Go

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Thicker Than Water: Essays by Adult Siblings of People with Disabilities

Sibling Support Jan 16, 2020

Show notes

ONCE UPON A GENE - EPISODE 013

Sibling Support

On the topic of siblings again this week, we'll be talking about the sibling perspective and the support available with Emily Holl, the Director of the Sibling Support Project. Emily is a social worker, writer, trainer, and sibling. Over the past 16 years, she has provided workshops, training, and groups for siblings, families, and individuals with disabilities. She has presented and written extensively on sibling issues, has conducted and published sibling research, and has facilitated Sibshops for young brothers and sisters of children with disabilities.

CONNECT WITH EMILY

Email: emilyholl@siblingsupport.org

LINKS AND RESOURCES MENTIONED

Sibshops at Kindering

The Sibling Survival Guide: Indispensable Information for Brothers and Sisters of Adults With Disabilities

Sibling Support Project

Start a Sibshop

Sibshop Standards of Practice

Sibshop Directory

How to Talk So Kids Will Listen & Listen So Kids Will Talk

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Ep 4- Finding Fred Podcast: Beth

My Favorite Pair of Genes Jan 09, 2020

Show notes

ONCE UPON A GENE - EPISODE 012

My Favorite Pair of Genes

As my daughter Esme's first birthday is approaching, it's bringing up a lot of feelings. This is an episode of deep thoughts with Effie.

EPISODE HIGHLIGHTS

I've wanted to be a mother my entire life. I was blessed with an exceptionally nourishing mom and I had 12 siblings. Naturally, I wanted to have a bunch of kids myself and I wanted to give my kids siblings that would be by their side no matter what. When I met the man of my dreams, he shared my desire to be a parent. We were so excited and planned to have three kids as soon as possible.

My pregnancy with Ford was beyond perfect. Casey and I would chat about our future son and what he might be like, how kind he would be, about him going to prom, graduating high school, leaving to find his own path in the world. Our beautiful son Ford has changed our conversation of what the future might be like. I don't know what dating or graduating high school or leaving to explore the world will be like. I'm sure it will be much different from what Casey and I used to dream about. We will most likely be caring for Ford for the rest of our lives.

After we got a diagnosis for Ford, people would ask me if we were going to have more children. I had to put my game face on when I was asked that dreaded question. I never knew if it was coming from general curiosity or if they were hoping I would say no. I would always answer with a firm absolutely. We didn't feel like our family was complete and we wanted to give Ford a sibling.

Esme is a beautiful, funny little girl who loves her brother. Ford lights up every morning when I take her to his crib. This is a complex topic I have to take day-by-day. How do I make this experience fair for Esme? How do I protect her from the pain it may cause her throughout her life? How do I put the burden of caring for Ford on my little girl? How do I help her discover her brother isn't a source of frustration, but a unique person who has his own gifts to contribute? I imagine all of these questions as stages of grief passed onto Esme. How do I not give her another sibling to share this emotional burden with who can help carry the load? Casey and I don't know if we will be able to have another child or if we even should, but the doors are not closed.

I think about these fears, questions and life decisions a lot. I still don't think I comprehend how having a brother like Ford might shape Esme, but I have faith that she will wield all her powers for good. I need to make sure she never feels like she's left in the dust, as our day-to-day tends to revolve around Ford. I wonder how to manage the delicate balance of taking care of both Esme and Ford and not putting pressure or burden on my little girl who doesn't deserve such heavy worry.

A friend recommended the podcast, Finding Fred to me. Listen to Episode 4: Beth, a story about a little girl with an extremely serious condition called Rasmussen's. In this episode, Mr. Rogers went to the hospital to visit this little girl and brought a special present for her brother. He knew how important it was to make the little boy feel less scared and more special. That little boy was the one who knew how scared his sister was, how stressed his parents were and how much pain the family was in. Mr. Rogers made sure to let the little boy know that he saw him. This episode really stuck with me has created a baseline for my parenting.

I'm excited to learn more about siblings from my future guests on this podcast. Even if it feels like it, it's not all about Ford-- but don't tell him that! I'd love to hear from other siblings and parents who share some of these same thoughts with me. Please message me to connect.

LINKS AND RESOURCES MENTIONED

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