Letting Go of the Need for a Diagnosis

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I’ve been sitting on this post and update for awhile. I have been working through my thoughts and feelings in counseling and I wasn’t sure yet what I wanted to say to family and friends.


In the past year and half our daughter Elizabeth has been hospitalized seven times, seen numerous doctors and specialists, had several surgeries, and has had too many procedures to keep track of. In her short life, she has also dealt with the following diagnoses:

  • Severe GERD
  • Laryngomalacia
  • Failure to Thrive
  • Aspiration
  • Swallowing difficulties
  • Central and Obstructive apnea
  • Multiple Infections: Cellulitis
  • Failure to Gain Weight
  • Feet bent at ankles leading to having to wear orthotics
  • Sinusitis
  • Mild Hypotonia
  • Hyptonic Muscles
  • Sensory Processing Disorder

While we have these many diagnoses, we have never been able to find the main cause of all her health issues – the main diagnosis. We have traveled to Boston, seen doctors all of the country, and she has been tested for numerous genetic diseases. We still have yet to find an answer.

Most doctors assume that she is a preemie due to her many symptoms, but she wasn’t. The doctors tell me she is a mystery, and sometimes not knowing is harder then having an answer or a diagnosis. It’s hard to know what direction to go in and how to treat what we do know is wrong when we don’t have a cause.

What many do not understand was that I had an obsession with finding the answers. I would never give up I claimed, I would find the cause, the reason for why she went through everything she did and why she struggled so much. But I did not realize the toll it was taking on our family. The search for the next specialist, all the testing, the stress and worry each time the doctors thought they knew what was wrong. I wanted to find answers and get help for my baby girl, but at what cost?

We recently got word that the most recent testing that she had done came back normal. She has been officially cleared and does not have Cystic Fibrosis. And this is a good thing. Shortly after, immunologist dismissed her from his care as there was nothing else he could find and nothing else to test her for. Her orthopedic doctor says she definitely has problems, but she doesn’t think they are bad enough to do more testing for at this time. She is also done having to wear orthotics, which is great!

Are there still issues? Yes. Currently, the concern is that there is not enough weight gain even with the feeding tube, she has lower muscle tone on the right side of her body over the left,  she has balance and falling issues, and feeding issues. Her pediatrician says we can see an endocrinologist if we want to do mores testing for the weight gain issues, but we are not sure if we want to pursue that at this time.

Her orthopedic doctor has talked about possibly doing another MRI in the future, but does not want to push it right now. She says that she is going to need a lot of therapy to get her to where she needs to be.

But as for answers? There are none, at least not at this time. And I’ve realized that my need for finding a diagnosis needs to be put aside. Though I thought I was helping her by pursuing a diagnosis, I was really putting a toll on our marriage and our family.

Does that mean we are done searching? Yes and no. If other problems arise, we are not going to stand by and do nothing, but at the same time we are not going to be actively pursuing a diagnosis anymore. She still has a feeding tube, and she will still be in many hours of therapy per week, but she is working hard to get to where she needs to be.

It’s hard for me. I want answers. I want to know why all of this happened and maybe someday I will. But meanwhile I need to learn to just be mommy. Not a doctor or a specialist or a therapist, just mommy.

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  1. Kathryn, wow – I think i could have written this post about our son Jordan. He also has “issues” and many of them are undiagnosed. I’m in tears reading this from you!
    I also reached the point where I decided “Jordan will show us over time” – I can’t keep chasing and hunting for answers. We treat the treatable and we watch for changes – everything else is just part of Jordan and his journey. Hugs to you! Thank you for writing what I feel!

  2. My heart goes out to you Kathryn and to you too Tove. I’ve studies holistic health for 38 years and if either of these were my kids … I’d immediately get on a very healthy diet…gluten free and start some home juicing. We have the Champion Juicer and its about 35 years old and still works like a charm. A daily juice of carrot, spinach and apple for about 2 weeks SHOULD show you some improvement if you;re also doing gluten free…I’d also back off on sugar and dairy…MOST illnesses are due to diet or lifestyle and or deficiencies of some sort. Its sure worth a try…..

  3. I love this blog post! This is what I have been going through with my son! He is 6 and it’s very hard. Thanks for sharing it helps knowing I am not alone, even though I wouldn’t want anyone else to go through this.

    1. Kathryn,

      A friend of mine sent me your story since a lot of the symptoms overlap with a rare riboflavin transport disorder that both she and my daughter are dealing with. With this disorder almost every biochemistry test comes back normal so doctors are often stumped. I cannot say if this is what you are dealing with based on your story. I went through 2 years of wild goose chases and endless hospital visits trying to determine what was wrong with my daughter. In the end is was only through exome sequencing (https://en.wikipedia.org/wiki/Exome_sequencing) that we found the disorder and also the treatment. She has now been on treatment for 2 yrs and doing well. When all other testing fails exome testing has ~40-50% success rate of identifying genetic disorders. You many consider this option if you do not get answers soon.


  4. Hello,
    The first two years we where seeing endless specialists. Our son had severe reflux, aspirating, constant pneumonia, major Gi issues. We found his heart defect then got the diagnosis of 22q11.2 deletion. This can have up to 186 medical complicatios. It was scary and frustrating.

  5. Getting a diagnosis is so exhausting and upsetting. My son has just been diagnosed with a Peroxisomal biogenesis disorder (zellwegers syndrome) which is very rare! I hope you get some answers but just try to enjoy life and your beautiful little girl 🙂

  6. Pingback: Three strong mothers who inspire me | Not Just Pink n Blue

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