Monday, January 24, 2011

18 Years/no diagnosis - until Haven's Mystery Diagnosis aired

A few days after Haven's episode aired I started receiving emails from people saying the watched the show and were happy to learn about Haven. One email hit me with a mystery diagnosis of her own that was finally solved with the show. Below is the email from the girl's mother:

Wow! Haven's mystery diagnosis story aired here in Florida about 2 hours ago, and I am just nicely able to stop crying and compose myself!

My daughter heather was born along with her twin brother on March 5, 1990. She was born happy and healthy and I have footage of her 2 years before all of this ROHHAD stuff took over our life, that I cannot even view, not even 18 years later!

She was this sweet and full of spirit young girl, and she and her twin brother were so fun to watch together! In September of 1992 we began to notice her appetite just went crazy!

Soon after she began to gain 15lbs-20lbs a month, and her stomach was very protruded. We lived in a small town where people couldn't wait to have something to talk about. People even wondered if she was somehow pregnant! That was the end of the line for me!
I too took her in to see a Dr., we did not have health insurance and the doctor wanted to run some ridiculously extensive and expensive tests! We took her home scared to death, that something was seriously wrong and we didn't have enough coverage to pay for the testing!

January came and she was still gaining weight, and she had this terrible snore/breathing pattern which really freaked us out. January 9th, 1993, we could not wake her from her night of sleep and her lips were blue! We took her into our Dr. and he sent us to Albany Medical Center via ambulance. Heather was fine while she was awake, but the moment she fell asleep, she de satted! They intubated her and we were in for 8 weeks of hell with all kinds of testing and temporary diagnosis. She actually had a reaction to all of the drugs she was being given which was mistaken for brain damage! They removed all of her tonsils, adenoids, and even her uvula. Then she was given a permanent trach! Diagnosis CCHS.

We knew she wasn't born with it, and the weight gain, none of the other children spoke of with this disease had the weight gain! Heather has been operated on several times for strabismus, and it comes back every time!

Finally all these years and a show watched due to the very fact that we somehow knew someone would be on there someday with Heather's actual symptoms!

God bless you all! We have yet to find a physician in the 2 years that we have lived here in Florida! I am hoping it will be someone who is at least familiar with the term!

I would love to hear from you! and thank you so much for having the courage to be able to do that!

Sincerely, angela

Thank you for contacting me Angela! I am truly honored to meet you and Heather and to be able to share her story. I can't believe you have looked for a diagnosis for 18 years.....but ROHHAD is a hard one to figure out!

Here are photos of Heather for our fans:

Heather with her twin brother --- cutie pies!!!

Heather with her brother right before the weight and changes began

As she got older the weight began to pile on.

Heather today (with her twin brother) at 21 years of age.


  1. Dear Misty,

    What an incredible story. I'm glad that the story about Haven was able to help someone.

    Please tell Haven that I said "HAPPY BIRTHDAY" to her and that I hope she has a great one!

    Still keeping Haven and family in prayer.

    With prayers & best wishes,


  2. Dear Misty,

    May God bless you Haven and your family. We saw your story on tv diagnosis show. Our daughter Amanda born in Sept '92 also has shown similar symptoms as Haven and Heather mentioned above. Thank you! from Kevin in Kansas