Adjusting to a Rare Disease Diagnosis : Living with "Rare"

 Living with "Rare"

A blog devoted to navigating and analyzing life with 
Rare and Complex Disorders.

Adjusting to a Rare Disease Diagnosis

by RNE submissions on 08/16/17

Written by Mary-Frances Garber, MS, CGC

Perhaps you are just learning that you or your child has a rare disease; you may feel shocked, sad, scared, angry, overwhelmed or all of the above.  It is not uncommon to experience a range of emotions after receiving a genetic diagnosis. Sometimes, even guilt is an emotion that is experienced, as a rare disease can be inherited.  It is important to remember that our genes and the mutations that we carry are not determined by anything we do or fail to do.  These mutations for the most part are random and spontaneous.

Having been a genetic counselor for over two decades, I understand what receiving a genetic diagnosis can be like for a family.  I never want my patients to feel alone or not supported.  As a genetic counselor, I now focus on providing a listening ear through supportive genetic counseling.

Living with an unpredictable genetic condition takes patience, perseverance, and courage.  Parents sometimes speak about the “new normal”, referring to their life after the diagnosis.  It is not uncommon to wish you could go back, to the old normal, before the diagnosis.  By becoming educated about the condition, talking with others in a similar situation and with proper emotional support you can and will adjust.  Adjustment takes time, allow yourself this time.

Sometimes when you feel you have adjusted and life is going along just fine, a new health issue presents itself and the cycle begins again.  Take time, give yourself time to talk about your worries, your exhaustion, address your need for support.  Many of you are becoming experts regarding the rare disease diagnosis in your family, some of you are just learning.  Others of you have become patient advocates, fundraisers and cheerleaders, but, remember to take time out to express your feelings.  You deserve it.

Lastly, fear of the future is understandable.  Try to stay in the present, remembering that your medical team will be there for you when challenges arise. 

Below are a few helpful hints for you to consider:

1.      Use RARE New England as a community and supportive environment

2.      Journal when you need to get your feelings out and there is no one available

3.      Talk with others who have a similar condition about their life experience

4.      Find a professional counselor if you need extra support


Mary-Frances Garber is a board certified, licensed genetic counselor who earned her B.S. in Molecular Genetics from the University of Rochester and her M.S. in Human Genetics from Sarah Lawrence College. Having worked for 11 years in a high-risk obstetrical setting in the Antenatal Diagnostic Center at Brigham and Women's Hospital, she gained extensive counseling experience. She has worked with many families having various genetic, chromosomal or developmental conditions. She is now in private practice focusing on patients with concerns surrounding compromised pregnancy outcomes, a recent diagnosis of a birth defect or genetic condition, and those in the process of obtaining a diagnosis for their child.

Mary-Frances Garber, MS, CGC
   Licensed Genetic Counselor


    Listening, Reflecting, Healing
     Supportive Genetic Counseling
    Needham, Massachusetts 

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A lifelong Connecticut resident, Joanna Mechlinski is a former newspaper reporter who now works in education. She was diagnosed with lupus, fibromyalgia and polymyositis in her early twenties. In addition to helping spread rare and chronic illness awareness, Joanna is also passionate about animal advocacy, reading, writing, and road trips.

 Mary-Frances Garber is a licensed genetic counselor, providing supportive counseling for families in search of a diagnosis, a listening ear for those receiving a new diagnosis and decision-making counseling for individuals or couples facing choices regarding having another child . She also is available for bereavement counseling. Patients are seen in a private office setting in Needham, Massachusetts.
Listening, Reflecting, HealingSupportive Genetic Counseling 
Find more info here.
Meet our blog writers!
Jenna Anne
  I write to you as a wife and mother of 4 children. Three daughters and a medically complex son. I live in New England and have a love of fiber arts, music, and most importantly advocating for my children. My background is in Early Childhood Education and Music Education, I have no medical background aside from what I have had to learn on this medical journey. My writing is not statistic based, it’s not guidelines or resources but rather I bring a perspective from the human experience. Often in this world of medical complexity we focus specifically on the patient and the diagnosis and treatments, my writings offer the community a different perspective on how the day to day events are affected by medical interventions. The impact it has on siblings and family. The perseverance it takes to keep a wholesome family continuously adapting and thriving amidst all the challenges of medical complexity. My writings are often raw and unapologetic and speak to the human experience behind the policy, coding and diagnostics of modern medicine.  

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