Adrenal Insufficiency, Genetic Testing, Medically Fragile, Mom, Mom life, NIH, Rare Disease

A Desperate Plea to Help a Family Find Answers for a Medical Mystery

Three years ago I had the pleasure to meet a mom that was in my local community. Her daughter was just a few years older than my son, and our children shared a lot of very similar diagnosis. Our friendship over the years has blossomed despite the fact that we haven’t seen each other since that day. We communicate almost daily about what is going on with our children, and we share our victories and defeats in parenting medically complex children.

As I have gotten to know her, the biggest thing I have taken away from her is her insatiable need to connect the dots about what is making her child so incredibly sick. The layers and complexity of disease her daughter face at times makes her feel incredibly overwhelmed, but I always see her dust herself off and keep moving to find an answer. She has been working with Metabolic and Genetics doctors since her daughter was an infant. While they have uncovered some abnormalities, it doesn’t appear that these defects explain the overall health issues of her daughter. In spring 2016, they spent time at the National Institute of Health. Her daughter underwent extensive testing to help her family find an answer. Each month that passes, I continually check in with her to see what is going on with their research. They still haven’t been able to draw many conclusions for a global diagnosis for her daughter.


I have witnessed my friend get so excited she may have an answer, and then I see her defeated when she realizes it is another dead end. It became apparent to me that I have a platform where I can share her story in hopes that others may be able to help her. Her daughter recently has been added The Harvard Medical School Undiagnosed Network. This is a web page that helps families share the information about their children in hopes other families searching for a diagnosis can find commonalities. The page features the most complex cases they come across, and Ms. O seems to

meet this criterion. Their family has exhausted nearly all their options in searching for an answer. My biggest hope for my friend is that all of this hard work will finally find a name for all the issues her daughter faces daily.

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I know all too well what it is like to feel helpless about not having a global diagnosis for a child. My son is so much like my friend’s daughter. He has multiple systems affected, and doctors have yet to connect what is causing his ailments. Our rare children are what I believe has bonded me so strongly with my friend. Every day we can touch base about what is going on with our kids, share treatments, appointment information, therapy successes, and discuss new places we can look to find answers for our children. Can you imagine how helpless you would feel if you had a child that had numerous life threatening diseases – but you had no prognosis and no blueprint to know how the disease will progress in your child? There are days it feels like I am suffocating and waiting for the next shoe to drop. All I want to do is to help my friend find a way to help her daughter and give her a chance to take a need breath.



Today I am asking you to help me help her. Below is a link to the Harvard Medical School Undiagnosed Network. Can you please help us spread the word about her daughter? We are asking you to share this link on your social media accounts, in groups for complex children and around the internet. The more people that this page reaches, the higher probability that someone out there may see their child within these diagnoses. The world of genetics is a relatively new field of medicine. Doctors often rely on us as parents to seek out other parents that may have a child like ours. When your child is rare, that can feel like trying to find a needle in a haystack. Let’s help my friend find her needle, please!

From the Undiagnosed Disease Network

“The patient has never been able to feed orally, therefore, she uses a g-tube for feeding and has a Nissen fundoplication to prevent reflux. She has a developmental delay and is nonverbal, but is making progress, especially with her motor skills. She also has vision issues (hyperopia, amblyopia) and wears glasses.

She had episodes of hypoglycemia (low blood sugar) as a newborn with no cause found. At 3 years old, she had a severe hypoglycemic episode while sick with a virus. Since that time, it has been medically determined that if she does not eat every two to four hours, her blood sugar can drop into the 30-40s. It was thought that she may have a mitochondrial condition or glycogen storage disease, but testing for these conditions has not revealed a diagnosis. Glucagon is not effective in treating her hypoglycemia.

The patient has never been able to feed orally, therefore, she uses a g-tube for feeding and has a Nissen fundoplication to prevent reflux. She has a developmental delay and is nonverbal, but is making progress, especially with her motor skills. She also has vision issues (hyperopia, amblyopia) and wears glasses.”

Please click this link

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  • then share the link to your accounts. If you have a child that you think reminds you of my friend’s daughter – PLEASE LET ME KNOW. We need your help to find her answers. I know her peace of mind depends on locating the answer to her daughter’s medical mystery. We want her daughter to have access to the best medical care, and that means we need to find the global diagnosis.

Thank you for reading! Comment below if you know someone that sounds like O.

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11 thoughts on “A Desperate Plea to Help a Family Find Answers for a Medical Mystery

  1. We are in the same boat. Mostly every system is affected and 13 yrs with no answers, just individual dx’s with no “unifying” dx. We live in WV and get medical care at Children’s Hospital in Pittsburgh, PA.

  2. Have they considered Angelman Syndrome? Some of the symptoms seem very similar. Inability to talk, can have swallowing problems, blood sugar and other metabolic issues, vision and mobility issues as well. Angelman children are often smiley, and her picture reminds me of the one child I know with the syndrome.

    1. Yes it has been ruled out. She has had full genetic panels done and a WHOLE exome with no known syndromes presenting.

  3. I have shared. My daughter has some similar issues, but she did not start life with them. I hear words like degenerative, unusual, significant deterioration, and most unexpected from her consultants. She has gathered many diagnosises, but we have yet to figure out the unifying condition. Just overwhelming fear at this junction. I really hope your friend find answers, and wishing upon a star, some solutions.

  4. CHARGE syndrome can include a lot of those symptoms. There are a spectrum of symptoms and severity. It’s a genetic syndrome. I hope you find the help you’re looking for!!! Best of luck!!

    1. No. She’s been tested for all syndromes – and she has no known syndromes.

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