Story told by Lisa Holcomb - (Pharma, RPD)
On December 31, 2000, my daughter's life changed overnight. Meg was a very happy and healthy eleven-month-old twin. What happened to Meg was a mystery for months. Our nightmare began with a trip to Children's Hospital on New Years Day. Meg had been acting different, she was leaning to the left when she crawled and became exceptionally fussy; to the point she wouldn't let us put her down. At first, the ER doctors thought Meg was fine and was ready to let us go home. After my husband questioned that doctor, the doctor decided to get a second opinion. Within a few minutes we learned we would be admitted and we were off to have a spinal tap and a cat scan.
By the time a room was available, Meg had gotten significantly worse. Her eyes began darting erratically and she would space out for seconds at a time. We stayed on the neurology floor for four days while they ran test after test after test, all of which came back normal. By our fourth day, Meg could no longer stand, sit up, crawl, or roll over. Her body would involuntarily jerk and her eye movements had gotten much worse. The doctors sent us home and told us Meg would be fine within 4-6 weeks; that she had a "post-viral infection".
We patiently waited during those next 4-6 weeks to see any signs of improvement; there were none. Meg would just lie on her back and cry; we ended up holding her almost 24 hours a day. After showing no signs of improvement, the doctors put Meg on a high dose of prednisone.
Meg started to improve ever so slightly. The first things we noticed were that her eyes seemed to dart less and she started rolling over. After a few weeks on prednisone we came to a idle on improvement. We went in to see another neurologist who thought maybe Meg had a lesion on her Cerebellum, so he recommended monthly IVIG treatments along with the prednisone. Over the next few months we would watch Meg learn how to crawl and sit up again.
A few IVIG treatments later, we came again to standstill on Meg's improvement again. She wasn't gaining any new milestones, she was still extremely clumsy when crawling, sitting, or feeding herself. Her body still jerked which made it hard for Meg to manipulate the world around her. She was a fighter though which gave us hope.
After an adverse reaction to one of Meg's IVIG treatment we decided it was time to visit a specialist at Southern Illinois University. He was recommended to us as a "muscle movement" specialist. We still didn't have a diagnosis but we were running out of options. This would be Meg's second trip away from home to look for answers.
During all this time, my husband and I had spent countless hours talking to people, searching the internet, and looking for any information that might prove helpful for Meg. I found the Southern Illinois University web site and found information on Dr. Pranzatelli, the new doctor Meg would be seeing soon. Most of the information on him included a disease "Opsoclonus-Myoclonus Syndrome (OMS)". Could this be what Meg had? I immediately started reading everything I could on the site but it didn't really tell me enough. I started doing searches on the internet and found a privately run site about OMS. I started reading true stories from parents with children afflicted with OMS. I couldn't believe it, there is it was staring me in the face. These other children had the exact same symptoms as Meg and had went misdiagnosed for months. For the first time I was really afraid but at the same time excited to be going to see a doctor who might hold some of the answers we had been searching for.
Dr. Pranzatelli confirmed my thoughts; Meg had OMS. He had seen about 112 cases of OMS in his career. We watched a video of children with OMS who had not been treated early on. I was devastated, these children could barely walk or talk and their bodies still shook tremendously. While there is no cure for OMS there are treatments that help and sometimes eliminate the symptoms. Our first treatment would be a six-month protocol of ACTH injections. We were told that some children respond so well to ACTH that they started walking within a few days of their first injection.
We went home and waited for the medication to arrive by overnight mail. We opened the package that contained what we thought was Meg's miracle drug. The boxes read "Acthar" which is the brand name of the drug that would help Meg gain control over her body again.
The first two weeks of the injections were horrible for Meg. She would wake up in the middle of the night and would scream for 2-3 hours. She didn't start making any progress like some of the other stories of children on Acthar. We talked to her doctor immediately and he put Meg on Prevacid because he thought she might have GERD from being on steroids for a long period of time.
I am not sure exactly what was going on during those first two weeks but it was like a miracle had occurred after those two weeks. Meg's body quit jerking all together, she could actually reach out and grab something on her first try. She no longer was falling over when she crawled or sat up. She was actually smiling all the time too.
This last month has been one that I had thought we might never see again. Meg is now crawling faster than we can keep up with her. She is starting to babble again which is joy to our ears, even the loud happy endless screams! She interacts with her brother and she has learned how to play with her toys again. It has truly been amazing for us and for Meg. I can't imagine what she must have been going through or thinking for all those months when we were searching for answers. All I know is how thankful we are and how thankful Meg must be. She is truly beginning to act like a toddler and we love it.
During these months, my husband and I have struggled with ways to make doctors and parents more aware of OMS and it's symptoms. The doctors in our area rarely, if ever, see a case of OMS. The closest case we have found is in Toledo. In fact, OMS is listed as an Orphan disease on the National Organization of Rare Diseases (NORD). We recently did a short interview with one of our local news stations trying to get the word out. We hope that by getting information out to doctors and parents that someday another little baby will be diagnosed much sooner and will not have to go through the pain and agony that our family went through.
For more information on OMS, you can visit Dr. Pranzatelli's web site: http://www.omsusa.org
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