Our daughter Kylie was perfectly healthy until three days before her 4th birthday – April 2008. She had a sudden seizure. From that moment on our lives changed drastically. After her first seizure, she developed a strange twitch by her mouth which then turned into a “tremor.”  Over a matter of months, the tremor spread from her cheek down the entire right side of her body.

Kylie now has scoliosis, torticollis (head tilt) a form of dystonia, and has a feeding tube for 99% of her daily nutrition. She is on high dose medications to control her seizures, help her sleep, and control her blood sugar levels.  Kylie remains undiagnosed. She has stumped many doctors and was even seen at the National Institutes of Health’s Undiagnosed Diseases Program in 2009.

Every day, we Google Kylie’s symptoms hoping something new will turn up.  We call almost anyone we think that might know what Kylie has. It’s not like on TV when you learn what your child has and everything turns out ‘OK’ in the end.

I once told another RARE Mom, “I don’t know if we fit into rare, we aren’t really rare. We are undiagnosed.”  Her response was, “Well…if you don’t know what Kylie has, it’s very rare.”

We have our daily struggles. Kylie is a blessing and whilewe  hope and pray that we will learn something new about her condition, I wouldn’t trade her for the world. Through everything, everyday, Kylie has a smile on her face!

To learn more about Kylie, you can watch a segment by Sanjay Gupta of CNN.

Regina McPeak
Nevada

11 thoughts on “Kylie McPeak’s Story – Living Life with an Undiagnosed Rare Disease”

  1. kristen says:

    Have they tested for Niemann-pick type c?

  2. Ellen Crompton says:

    Hello, it doesn’t matter if it is rare or not. You have a child with a medical condition. I pray your family finds the love and support of our community. I will prayer for you and your family. I hope you find answers!

  3. Great post, what a beautiful little girl you have. I understand the fear and frustration that comes from being undiagnosed. It took 10 years after my first official symptoms at 4 years old before my health problems were finally put into a disorder category. To this day 14 years later I still don’t know exactly what name to pin to it, though, now I know generally what it is and what to expect. Hang in there, you’re in my thoughts.

  4. Ann says:

    Kylie,
    From one SWAN [Syndrome Without A Name] to another, hang in there! We know how frustrating it is to know something is wrong but not know it’s name, especially when test results come back inconclusive! Keep that beautiful smile on your face!
    -Faith

  5. Mel says:

    My son was perfectly healthy until just after his 8th birthday. He had his first seizure, however he went into refractory status eleptipicus and seized every 5 minutes for 5 months. this was a year and a half ago and he still remains undiagnosed. He is now blind, deaf, mute, wheelchair bound, severe brain damage, tube feed and on mutiple medications for epilepsy (he did not have prior) reflux, scoliosis, dystonia, hypothyrodism. i know what its like to search the internet day in and day out. I hope that u one day get an answer for your little girl. The sitting and waiting is horrible

  6. Nicole Olakkengil says:

    May God be with you and you’re in my prayers. It must be terrible to have to wait so long and I sincerly hope they diagnose the syndrome.

    Kylie is such a beautiful, young girl and I hope she keeps that fighting spirit and adorable smile on her face ♥!

  7. Elfie Larsen says:

    Hello: Has your daughter had a full head to lower spine mri? Has tethered cord been ruled out? There are many different diagnosis and a reason for it happening while she is growing and changing that her body is starting to have the problems. Yes scoliosis is a part of that and yes it can affect all the way to the brain jaw…even your abdomen. Each person is different and unless you have the right testing to eliminate then you cannot say you have a nothing condition. Because the medical profession needs to be educated about this. God Bless You …both my children and I are with more than one rare condition and have an abusive husband and father to top it off…there is an answer and elimination is the start.

  8. Elfie Larsen says:

    It is difficult having rare conditions that affect you and your children. Then you have doctors who in the same profession do not understand, have studied/have the inventions/insight/time and experience to help those who really are suffering having a great impact on a great many who are debilitated for years. Thank you to the many who have taken part in not just one condition but the ability to establish proper csf flow in people with structual differences. It is great the knowledge is there and for them to fight for my children’s lives is very special. Saving their mother who is writing this and would not be without the surgeries performed. Having the insight to put aside the situations no matter how bad to still save lives. Having to live with conditions that need medical attention and requireing less medical attention had they stayed. Now they are trying to stay but have to ask for more help and to let them know that the children had to be vilified for reasons unbenownced to me? It is easy to say this should’ve been done? If you have such strong opinions why did you not help or do what you say afterwards? Admitting to a mistake is one thing but actually taking responsibility for it really gives the Respect. In any way that the children could be hurt and now are clearly hurting and nothing is done.

    How come is it the criminal that gets away with hurting the victim and takes so much to prove and stop them…as they plan and want things taking advantage of the weaker. The wife and two children? Why and how can he get away with so much abuse knowing exactly how to control and make it almost impossible to prove? STOP HURTING MY CHILDREN WHO CHILDREN OF GOD…WHY IS MONEY SO IMPORTANT TO YOU AND THAT HAVING NO EMOTION OR FEELINGS OF HURTING YOUR WIFE AND YOUR OWN FLESH AND BLOOD?

    WITHOUT PREJUDICE…WE WOULD LIKE TO THANK THE DOCTORS WHO SAVED OUR LIVES AND YOU KNOW WHO YOU ARE. WE JUST NEED MORE HELP BECAUSE OF WHAT HAPPENED WE WERE UNABLE TO COMMUNICATE IN ORDER TO GET THE PROPER CARE AND BELIEVE THERE IS NO WAY THAT HAD YOU BEEN ABLE TO YOU WOULD UNDERSTAND NOW…IT IS WHAT IT IS. HAVING THE PAST HURT CHILDREN SO BAD IS WRONG OR THE DISABLED WITH RARE CONDITIONS…WE ARE NOT MAKING THIS UP!

  9. We can only make the best decisions at any given time based on what we know. As we learn new things and/or time passes we can only help others to avoid the struggles we have had to endure.

    Thank you for sharing your personal thoughts with us…we wish you only the best. Hugs.

    – The Global Genes Team

  10. Anonymous says:

    Have you seen Sanjay Gupta’s Special Report on Marijuana? I do not wish to offend anyone but I feel it would not hurt to just watch it and maybe think about alternatives for her, I really feel for children with these conditions and the long term effects.

  11. Debbie Earl says:

    Has your child been tested for Batten’s Disease?

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