Jenifer Merriam's 14-year-old daughter started dropping her pencil and her hairbrush, and struggled with her studies. Something wasn’t right.
Jenifer Merriam is a mother of two children, Anissa and Ty, affected by Lafora Disease. At her daughter’s diagnosis in 2016, she was told there were no treatments or cures. She left that appointment hopeless and not sure what to do. She began to research more about Lafora Disease and soon found Chelsea’s Hope Lafora Children’s Research Fund. Shortly after that, she attended her first symposium and began connecting with families, researchers, and doctors within the organization.
Jenifer got involved with Chelsea’s Hope to advocate for her children, find treatment options, and make an impact for all living with Lafora Disease. She joined the board in 2018 as a liaison to the Rare Epilepsy Network and the Epilepsy Leadership Council. She also served as the research director and spearheaded the process of obtaining an ICD-10 code specific to Lafora Disease. G40.C became official on October 1, 2023.
As President, she looks forward to using her leadership experience and skill set to help advance the mission of the organization with a goal to make the impossible-POSSIBLE!
Transcript
“Where's your brother?” I asked my 17‑year‑old daughter, Anissa. She looked at me with a blank stare and said, “I don't know.”
I began to panic because I realized that my son was missing and my daughter didn't seem to care.
My daughter, Anissa, was a really responsible teenager. She was artistic. She was a second mom to my son Ty, who was eight at the time. They share a really special bond together. In the months leading up to that question, my daughter had been complaining that she had been dropping things, and that when she was doing her makeup, she would have her mascara fly out of her hand or, when she was brushing her teeth, that the toothbrush was flying out of her hand.
So after much convincing, I took her to a neurologist, and the neurologist at that time diagnosed her with something called Juvenile Myoclonic Epilepsy. He basically told me that the things that were happening to her were actually seizures, which is called myoclonus, and that we could put her on some anti‑seizure medication, that I would need to make sure we were careful with her around water and that we knew seizure protocol, but that she was going to relatively live a normal life other than that.
We left that appointment that day and carried on over the next couple of years where she continued to have more seizures. We got a second opinion at Phoenix Children's Hospital and began seeing another doctor.
The morning of that question, we had a really chaotic moment. It was a very crazy morning. I am usually very on top of getting my kids to appointments and knowing their schedules and timing, but that particular moment and that particular day, I was all over the place.
I remember barking at my children and being in a hurry and rushing them out the door. As we drove to the appointment, it was about 30 minutes, and I remember feeling so stressed. I remember the stress just permeating in the car and that tension that was just there. My kids were quiet and I was quiet and my head was racing. I remember being and feeling so frustrated, and I was frustrated at myself that I hadn’t allowed enough margin in my morning so that we could have a more calm morning. It's already stressful just having to go to the doctor, but if we could have had more margin in our day, it would have allowed for us to have a more calm morning, which would have set the tone for just a nicer, more pleasant drive to the doctor’s office that day.
I also remember feeling a lot of anxiety that morning, because we were going to a follow‑up appointment and I had really been looking forward to that appointment because I had a lot of concerns of things that I had been noticing about my daughter, Anissa, in the months prior to that appointment.
So we finally got to the appointment and it was a three‑story building. It's called the ambulatory building. It's right next to the hospital. A pretty small building, but easy to navigate. I remember looking at Anissa and I asked her. I said, “Anissa, can you jump out of the car? Can you go into the building? And I want you to go up to the third floor, go to where the kiosk is, and check yourself in.”
She just looked at me like she was super confused. And of course, my anxiety is continuing to build as I'm worried, as we're late. So many things are going wrong that morning.
And so I repeated myself thinking, “Well, maybe I didn't explain myself well enough.” So I said it all again, what I needed her to do.
She continued to look at me just like she was just puzzled, like as if we weren't even speaking the same language. She was just so confused.
I remember looking at the rearview mirror and my son was intently listening to our entire conversation. I asked him, “Ty, can you take your sister into the building, like go in with her and go into the elevator…” I said the whole thing all over again. “Go up the elevator to the third floor. Go in.”
“Yeah, Mom, I got it.”
So they jumped out of the car and I thought, “Whooh, all right. They're in the building. We're going to make it on time.”
I parked my car, and I remember walking into a very busy waiting room, but feeling so relieved that we had finally gotten into the office. So I knew we had made it. We got there. We got there. We were good.
I remember I looked up and I saw Anissa standing at the kiosk. Again, that anxiety flared up because I said, “How has she not been able to get herself checked in at this point? She's 17, responsible. Usually she's got this.”
So I walked up to her to help her finish off getting herself checked in.
As soon as we finally got everything done, I turned around with her and my eyes went to where my son would normally be sitting, playing on his Nintendo DS, just waiting patiently for us, and he wasn't there. So I quickly scanned to the right to see if he was sitting in another area, and my son wasn't there.
Panic is setting in for sure, and I start scanning the entire waiting room, which was a pretty big waiting room. My son was nowhere to be found.
This is what led me to asking the question that day immediately with Anissa, “Where's your brother?” Where she very nonchalantly said she didn't know.
I proceeded in that moment to say, “Where was the last time you saw your brother,” which is more expression in my voice because, obviously, I was getting very worried at this point.
And she looked at me again with that kind of blank look in her face and said, “On the elevator.”
I said, “Why? Why would you leave your brother on the elevator?” It just, in my head, didn't make any sense. My responsible daughter, who is a second mom to her brother, I didn't understand that response.
So she just looked at me again, very matter of fact, without a care in the world and said, “Because he said goodbye.”
My stomach dropped because I, first of all, was missing my son who was never out of my sight. So I was like in a panic of where's my baby boy? But, secondly, I was looking at my 17‑year‑old saying something is really, really wrong, and just trying to process the moment.
So I went to go find my son, who was found by a security guard. I began to explain to him what had happened, which didn't make any sense to me and definitely wasn't making any sense to him, so I stopped and I just simply said thank you.
I took my son and we went back into the waiting room. At that time, Anissa’s name was called, so we all three walked into her appointment together.
I remember the first question that the doctor asked and she said, “So, how's everything going?”
Well, the tears began to flow down my mama face, and I began to explain to her what just happened before we got in there. I continued to go on and share some other things, the fact that at the end of the school year in May, Anissa seemed to be forgetting what her homework was. She didn't seem to know what was going on at school anymore and didn't really seem to care either, which was not like my responsible girl.
I also went on to explain to her about an incident where Anissa went swimming and then she came inside. Later, I found her wet suit in her dresser drawer. Again, I couldn’t put my finger on it but something was changing in my daughter. Something was going on.
And I remember feeling so alone all summer long because I had told my mom, I had told my friends and everyone seemed to kind of go, “Oh, Jenifer,” like the kind of didn’t really take me seriously. So when I was in that moment and I told her this, I looked at her and I said, “I need someone to listen to me.”
She did listen to me. And she started explaining that she was going to order a few different tests and evaluations. She told me that we were going to do a physical psych evaluation. She also told me that we were going to do a three‑day EEG, and finally, that we were going to do genetic testing.
I remember I didn't know a whole lot about genetic testing, so I was a little bit curious about what that was and what that meant. I asked her, “What are we doing genetic testing for?”
And she said, “We're just going to rule out a few things.”
And I thought in my head, “Okay. Ruling out a couple things is okay. Like, I shouldn't panic too much yet because we're going to just rule stuff out.” That's what I heard.
So we left the doctor's office that day. And within a few months, we went through all the testing. We did neuro psych evaluation. They told me she was stubborn because she couldn't answer some of the questions.
We went through EEG three‑day testing and then epilepsy monitoring unit there at Phoenix Children's and they told me that her background was slow, but it was probably just one of her meds. Okay.
Finally, we got to the genetic testing where we went in and her father and her and I all went in and we did the genetic testing. Within a few months, the doctor called us in and said she had the results of the genetic testing. Okay.
She sat us down and at that time she revealed to us that the genetic testing had indicated that Anissa has something called Lafora Body Disease. Lafora Body Disease is a glycogen storage disease. Basically, what happens is children are born with Lafora, but they don't present symptoms until they are typically teens. And what happens is, normally, you and I would use our glycogen up as energy, but they don't use it in the same way. Instead, it stacks and it stores up to the point where it starts affecting their nervous system. So it started affecting Anissa's nervous system, which is why she started having those jerks back a few years earlier.
The doctor also told us at that time that this was neurodegenerative. She told us that Anissa would lose her ability to walk, to talk, to eat, to see. She told us that there was no cure, there was no treatment, and that we basically had 10 years with our daughter from the time of that first jerking symptom that she had.
I remember asking her, and my mom had said, “Ask if they have any clinical trials.” So I remembered that little piece of information my mom gave me. “Are there any clinical trials?” And she just point blank, “No.”
I said, “Are there any organizations or things we can be a part of?” And again she said no.
“Are there any other parents or any other kids like Anissa that I can connect with?” And she explained to me that this was so rare that Anissa was the only patient in Arizona that had this disease, and that she would only see this once in a lifetime in her whole career.
I remember leaving that appointment that day and just being devastated and feeling very alone, because there was nobody or nothing to gain, getting this support from. And I remember looking at videos to see what I was up against, to find out what was going to happen to her. I remember crying a lot and being very sad and depressed.
I also remember thinking, “Not only am I going to lose my daughter, but my kiddos, my other two are going to lose their sister.”
And it was in that moment that I decided that they couldn't lose their mama too. So I pulled myself up and said, “You got to take care of yourself and you got to figure this out, got to figure out your new normal.”
And I became involved and I found an organization called Chelsea's Hope, which is the largest Lafora organization here in the United States. I became a liaison and vice president, and I'm currently president. I helped spearhead getting an ICD‑10 code specific to Lafora disease, which helps us with care and track prevalence and find new patients all over the world.
I helped establish with another board member, the National Lafora Day, which we celebrate on Chelsea, who is Chelsea's Hope, on her birthday. So we recognize and bring awareness on that day. We're currently working on a new initiative for centers of excellence to try to get best practices for Lafora.
Also during that time that I've been busy with this organization, it was advised that I get my other two children tested. I was so happy to find out that my daughter, no, she doesn't have the disease and she's not even a carrier. That was the best news I could get as her mom.
Unfortunately, my son was also diagnosed with Lafora disease. So because of his sister's trajectory and what's happened with her, I really had a heads up on knowing what to expect because I found this out before he ever had his first symptom. So I've been able to navigate this a little differently for him, although he definitely does have the disease.
I do want to share with you that, for the first time, we do have some renewed hope, and that is that we have a potential treatment for Lafora disease, the first ever. And we have a safety study for 10 patients that is going on right now at UT Southwestern in Dallas, Texas. The criteria for getting in that was 18 and younger. Sadly, my Anissa did not qualify to be in that trial. But the great news is that Ty, that little boy on the elevator, is patient number nine. He is getting ready to go for his second treatment in Dallas in November. And because of that, we definitely have hope for our entire family.
Thank you.