OUR STORIES

My PCDH19 Story (written by Maegan Haganey)

This was the start of my being sick all the time with recurrent pneumonia, UTI’s, cold sores, GI issues, and sinusitis. I had to start wearing glasses at age 2. I saw a lot of different specialists with no significant findings. The only things showing up were a low immune system, environmental sensitivities and some food allergies. I was averaging 1-2 seizures every 6 months. If I had 2 seizures we would go to the hospital and get antibiotic on board and if a cold sore I’d be given an antiviral.

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From age 3-7 I still visited many different specialists looking for answers. Every appointment we would hear, “She has something. We just can’t put a finger on it.” I was averaging 1-2 seizures a year. I still had recurrent pneumonia, sinusitis, cold sores, UTI’s and GI issues, which all seem to trigger a seizure; but during this period had better seizure control overall. We noticed that vaccines and antihistamines would bring on seizure activity. At age 3 my tonsils/ adenoids were removed, and I was put on allergy medicines which seem to help with seizure control.

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From age 7-9 I actually went 2 years seizure free. I still visited our pediatrician regularly for being sick but had no tonic-clonic seizures. I did move a lot during my sleep, possible due to myoclonic seizures.

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On January 1, 2014 I had a tonic-clonic seizure. We found out RSV triggered it, and a week later I had pneumonia. At this point I seemed not to recover from anything. I was chronically sick and fevered, and everyone was puzzled. Infectious disease found CMV(cytomegliovirus) IGG but they were not concerned since everyone will have it eventually.

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On April 26, 2014 my life changed and my seizures went out of control! I was airlifted to All Children’s Hospital and stayed there for 6 weeks, mostly in the Pediatric Intensive Care Unit. Many tests and specialists later nothing conclusive had been found. They did find my NK (Natural Killer) cells were low, I had Mycoplasma pneumonia, CMV, and also pinworm infection. They tried four different seizure meds, sedatives, and various rescue meds with no seizure control. They decided to treat me for Auto Immune Encephalitis, using prednisone and IVIG, although they couldn’t prove this is what I had.  I was having all types of seizures. I was finally discharged from All Children’s Hospital June 10th, but the next day started drop seizures and tonic-clonic seizures that wouldn’t stop, I was at death’s door.

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We ended up at Miami Children’s Hospital for 2 weeks where they treated me for Auto Immune Encephalitis and toxicity. They did 5 days of plasmaphersis, which I believe saved my life, IVIG, and more tests. So after over 150 seizures and being hospitalized for 8 weeks at 2 different hospitals, we still had no concrete answers as to why this was happening to me!

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In July 2014 my geneticist in St. Petersburg tested me for PCDH19 Epilepsy, which came back positive. My parents were tested also, and they don’t have it, so my mutation is considered de novo. My doctors said that my seizures seem to be brought on by a virus or bacteria.

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From July 2014 – December 2014 I did 6 months of IVIG at Miami Children’s Hospital to see if it would help my seizures. I haven’t seen any changes yet: I’m still clustering 10-20 seizures once a month. I get distracted and agitated easily.

I have headaches, am tired all the time, and my legs hurt so badly after walking or playing. I wear a mask to protect myself from germs, but I’m still getting sick and having seizures. My mom is home schooling me this year, and I really miss my old school and friends!

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I enjoy spreading awareness about PCDH19 to help others get their diagnosis and hopefully one day a cure. I love singing, playing with friends, gymnastics, church, doing duct tape crafts, playing on my I-pad, Wii games, and I love my family very much.

 

In the words of Maegan’s mom, April:

I would encourage all of you to trust your gut, research, ask questions, and don’t be afraid to stand up to the doctors for your children. We are their voice! Knowledge is Power!  Be proactive for everything!  Have a plan of action for regular and emergency treatment, keep a seizure log, make videos to show the doctor’s what their seizures are like, keep medical records with you, and try to stay organized. Never give up, we are in this together!  Spread awareness and keep God by your side, prayers work! God bless us all in this PCDH19 Girls Clustering Epilepsy journey.