Once Upon A Gene

As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.

Society & Culture
Kids & Family
Parenting
1
How Far We've Come - A Look at the FOXG1 Resear...
44 min
2
Effisode - Fire and Ice
9 min
3
Your Career and Personal Life Collide - Senior ...
38 min
4
A Rare Collection - Beep, Beep, Beep
21 min
5
Effisode - The List
7 min
6
A Mom's Advocacy For Her Son Who Has Hemophilia...
36 min
7
Social Security Disability Revealed - Why It's ...
52 min
8
Effisode - Chasing Greenlights
4 min
9
Medical Student - Urvi Gupta Joins the Global G...
22 min
10
The Effects of Rare Disease on Relationships an...
42 min
11
Effisode - Gravity
4 min
12
A Rare Collection - Batten Down the Hatches
15 min
13
CRELD1 Dadvocate Paying the Ultimate Price - Se...
49 min
14
Effisode - Gilmore Girls, Pumpkin Spice, and Baja
3 min
15
A Groundbreaking Gene Therapy In Record Time to...
30 min
16
Improving Inclusion Practices in Schools with t...
37 min
17
Effisode - Shake It Off
6 min
18
A Rare Collection - Underestimated
18 min
19
Rare Friends Forever - Hanging Out and Showing ...
39 min
20
Effisode - Inclusion Revolution
2 min
21
Rare Disease Families Have Plenty of Hope - Wha...
38 min
22
Together We Can Cure Single-Gene Disorders Star...
42 min
23
Effisode - Montana or Bust
3 min
24
Rare Disease Siblings, The Glass House Children...
41 min
25
A Rare Collection - Easier Said Than Done
16 min
26
Effisode - The Lunchboxes
2 min
27
When Your Career and Personal Life Collide - VP...
34 min
28
Ensuring that the Patient and Caregiver Voice a...
29 min
29
Effisode - CTNNB1 Awareness Day - Rare Disease ...
3 min
30
Summer Surfing - Get On Top of the IEP Wave - T...
49 min
31
A Rare Collection - I Will Never Forget
16 min
32
Effisode - Back on Track - All Aboard the Inclu...
5 min
33
Half of the Day She's a Diversity Champion, the...
35 min
34
A Rare Mama Bear - Being a Single Parent and Ad...
27 min
35
Effisode - Global Genes RARE Disease Patient Ad...
5 min
36
Picking the Brain of a Rare Disease Dad - With ...
27 min
37
A Rare Collection - Remember Who You Are
24 min
38
Effisode - Find Your Fairy Godmother
5 min
39
Episode 138 - When Your Child is Facing the Mos...
36 min
40
Advancing Therapies for Rare Liver Diseases and...
31 min
41
Effisode - Guilt - Ain't Nobody Got Time for That
3 min
42
The Value of Intensive Therapy for Kids with Di...
35 min
43
A Rare Collection - Up At Night
25 min
44
Effisode - RARE Entrepreneur Bootcamp Warriors
4 min
45
The Critical Role of Newborn Screening - Rare M...
37 min
46
The Unique Expertise of a Genetic Counselor - H...
40 min
47
Effisode - I Don't Like That
4 min
48
Rare Disease Caregiving Post Childhood with Rar...
40 min
49
Kelley Coleman - Author of You will Feel Better...
34 min
50
Effisode - Gimme a Break, Spring Break
4 min
51
A Rare Collection - Penny For Your Thoughts
18 min
52
Self Care for Your Healthcare with Ehlers Danlo...
36 min
53
Effisode - A Perfect Day for a Walk
5 min
54
Sisters’ Hope Foundation President and Founder ...
33 min
55
Building a Different Kind of Motherhood Experie...
40 min
56
Effisode - Grocery Store Answers
4 min
57
A Rare Collection - Unexpected Findings
17 min
58
A Very Rare and Very Real Adventure with DeSant...
34 min
59
Effisode - Moments
5 min
60
Adapting and Collaborating to Help Bring a Cure...
38 min
61
Figuring Out How to Infuse Meaning in the Days ...
42 min
62
Effisode - The Unicorns - Random Acts of Kindne...
5 min
63
A Rare Collection - This Is Us
22 min
64
How the Caregivers Mental Health and Physical W...
32 min
65
Effisode - Bathroom Floor Moments
6 min
66
What Happens Now - Baby Boy is a Medical Miracl...
34 min
67
One of the Youngest Children to be Given Treatm...
54 min
68
Effisode - Oh Goody - Anxiety is Visiting
3 min
69
Ambiguous Medical Plans - How to Figure Out a S...
50 min
70
A Rare Collection - New Beginnings
23 min
71
Effisode - Rare Disease Day
3 min
72
A Dads Fight to Survive Cancer and the Heavy Bu...
49 min
73
Create Conversation, Community, and Change with...
42 min
74
Effisode - The Kindness of Strangers
6 min
75
The Bravery of the Brokenhearted - A Big Brothe...
46 min
76
A Rare Collection - Lullabies
26 min
77
Effisode - The Magic of Friendship at the North...
6 min
78
Being Mindful of the Sibling Experience with Fo...
46 min
79
The Importance of Newborn Screening in Every St...
34 min
80
Effisode - Grief and Joy are Mingling this Holi...
7 min
81
Turkey Soup for the Soul and Stories About Rare...
44 min
82
A Rare Collection - Rare Disease Storytelling -...
13 min
83
Effisode - Find the Connection
5 min
84
Finding Hope From Diagnosis to Action - LMNA Re...
31 min
85
The Joy Doesn't Need to be Ambiguous Even Thoug...
40 min
86
Effisode - Cinderella, Cinderella
4 min
87
Rare Book Club with Co-Host Patti Hall - Featur...
44 min
88
Raising a Son with Batten Disease and the Impor...
40 min
89
Effisode - Two Disabled Dudes
40 min
90
A Rare Collection - Rare Disease Storytelling w...
21 min
91
How We Can Balance and Understand the Unique St...
41 min
92
Effisode - The Kids Do NAPA Center in Los Angeles
4 min
93
Strength - How We View It, Define It and Move T...
34 min
94
Finding Beauty and Connection When Raising a Me...
46 min
95
Effisode - Road Trip to NAPA Center
4 min
96
A Rare Collection - Rare Disease Storytelling w...
24 min
97
Strength and Inspiration Found Through Rare Dis...
33 min
98
Effisode - Ford Goes to Kindergarten
4 min
99
Five Common Errors Made by Recently Diagnosed, ...
42 min
100
A Mother's Story of Finding Your People, Accept...
33 min