Reaching Out When Your World is Rocked by Tay-Sachs: An Interview with Lorelei Sandoval
Lorelei Sandoval is a 36 year old Registered Nurse living in San Diego with her husband and five year old son, Isaac in San Diego county. I met Lorelei at a women’s cannabis community meeting last month and was eager to share her story. We spoke by phone as she readied Isaac for a day at the beach, and despite her preoccupation, I was struck by her preternatural serenity. Isaac was diagnosed with Tay-Sachs Disease at 7 months.
INTERVIEWER
When I interview people for these features, I always begin by asking “why are you here, talking to me?” It’s an opening in to people’s stories, I’m curious about yours. Where does it begin?
LORELEI
Yes. Well, Isaac was our firstborn child. My husband and I thought we had a plan when we conceived Isaac. We thought our lives were mapped out. We had careers. When he was born, we knew that I’d breastfeed and we’d both baby-wear. We would give him the best possible life that we could, and it would be a good one.
INTERVIEWER
I know that all too well. Our children are born with the highest expectations — not so much for them but for us, for what we can give. When Isaac was born, did you know that something was wrong with him?
LORELEI
No. Isaac came into our lives, and it wasn’t until he was five months old that we brought him to a pediatrician for what we thought was an eye problem. At four months, he had just a wiggle in his left eye, not even a medical disorder or problem. When we saw the pediatrician, we were referred to an ophthalmologist, but the wiggle disappeared completely by the time we saw the specialist when Isaac was six months old. On examination, though, he did have a cherry-red macula, which led us to an appointment with a metabolic specialist who did blood tests and finally diagnosed Isaac with Tay-Sachs Disease. He was seven months old.
INTERVIEWER
For those who aren’t aware, Tay-Sachs is a rare, autosomal genetic disorder. The disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child’s brain and affect the nerve cells. As the disease progresses, the child’s body loses function. Children with Tay-Sachs experience a variety of symptoms, including seizures, vision and hearing loss, intellectual disability and paralysis. The severe infantile form of Tay-Sachs disease usually causes death in early childhood.
LORELEI
Yes. The eye abnormality called a cherry-red spot is a hallmark of the disease.
INTERVIEWER
That’s so intense. Yet, here you are with Isaac who is now five years old. What happened immediately after diagnosis?
LORELEI
We thought, OK. This can’t really be our child, our situation. But we also thought and knew that we’d do everything we could to give him the best quality of life. I started him immediately in water therapy and kept him super active as I wanted to keep and make as many neural connections forming as possible. I thought, let’s keep him active while we figure out what we’re going to do.
INTERVIEWER
So this is when you move out to North Carolina, right?
LORELEI
Yes. At ten and a half months, Isaac received a cord blood transplant — it’s in the same family as a bone marrow transplant — in North Carolina. This disease is so rare that only a few places are willing to do that kind of life-saving procedure. We were in North Carolina for about eight months. He stayed in the hospital for nearly six months. We were initially told that he’d be in for two months, out for two months and then go home for strict follow-ups. But he had a lot of complications and was actually there for six months.
INTERVIEWER
What kind of complications? And were you still working as a nurse when all this was going on?
LORELEI
I took a leave of absence when we went to North Carolina. Isaac had a massive GI bleed on his first birthday and was intubated. That set us back a lot. He had aspiration, problems with his heart and then developed seizures. Tay-Sachs kids all develop seizures. We were hoping that the cord blood transplant would prevent the onset of seizures, but in January of 2012, he was diagnosed with infantile spasms while still in the hospital and immediately put on Topamax. That didn’t work, so we tried Vigabatrin, but that didn’t work either.
INTERVIEWER
The dreaded infantile spasms. That’s what my daughter was diagnosed with twenty-one years ago, when she was three months old. For those who don’t know, it’s a particularly devastating and difficult to control epilepsy syndrome. I can’t imagine how difficult all of this was, particularly after the diagnosis, the transplant and the extended hospital stay.
LORELEI
Yeah. So, the seizures were not controlled, and we’re down the road somewhat, trying pharmaceutical after pharmaceutical. We tried the ketogenic diet, too. At this point, Isaac isn’t vocal anymore. While in the hospital, he really started losing development and regressing. The child we took home from the hospital was not the same one that we took in. At nearly three years old, they diagnose him with Lennox-Gastaux, another seizure syndrome, and we begin a trial of Onfi, a benzodiazepine. At the same time, we went ahead and got his medical recommendation for marijuana.
INTERVIEWER
How did you first hear about cannabis?
LORELEI
Well, as a nurse, I knew about medical marijuana for pain and cancer patients. I don’t remember hearing about it for epilepsy patients until we saw the documentary on CNN, Weed. We talked to Isaac’s neurologist who was against it at the time. He actually wrote dismissively about it in Isaac’s medical chart that I saw later when we changed doctors. I continued to do a ton of research on it, believing firmly that I wasn’t going to be giving my child something that I picked up off the corner. I got on the list for Charlotte’s Web, but that was months away.
INTERVIEWER
So, you’re doing research and figuring out how to get product. I remember you telling me that you initially made your own oil. How did that happen?
LORELEI
I was doing a lot of research. I used Project CBD, and I found a local supplier with a product that was supposedly all CBD. I purchased my first batch — picked it up in the parking lot of a grocery store and felt like a teenager! We did it all legally, but it was still so weird.
INTERVIEWER
Yeah. Not a day goes by that I don’t think that I’m in some strange new world!
LORELEI
So, I had the raw materials. It was interesting to me that I could look up how to convert it and did so. I was so proud of myself and my nursing skills, my math, etc. when I took my first batch into a lab and it came out exactly as I had figured it out! My chemistry and nursing came in handy!
INTERVIEWER
Amazing and brava! Did you share this with other mothers or members of the cannabis community?
LORELEI
Oh yes, the monthly meetings of mothers using cannabis are wonderful. We share different methods of preparation — everything, really. I was so grateful — and continue to be — to have people to bounce ideas off of and to make the whole marijuana thing so not taboo. At first, I was worried that I’d get into trouble giving cannabis to my child. Would my license as a registered nurse be in jeopardy? Was I going to hurt my child? All these fears were alleviated, though. Even my neurologist agreed that we’re all, somewhat, experimenting even with pharmaceuticals for these seizure kids. With all kinds of medications! And the neurologist sees all the improvements in Isaac and in other kids. He’s learning from other parents, as well.
INTERVIEWER
What sorts of changes did you see in Isaac when you gave him the CBD oil?
LORELEI
Well, as time went on we saw that his seizures were improved, he was more alert and his dysfunctional tone was better, too. He has mixed tone issues and is at risk of contractures, but the cannabis has helped that a lot. He’s in a better place than he would be without the cannabis. His neurologist got interested when he saw the improvements.
INTERVIEWER
Tell us a little about the improvement in seizures.
LORELEI
Well, right now he’s stable. He tends to get a lot of urinary tract infections, and they’ll double his seizures, but right now he has about ten seizures a day. This is down from a high of forty a day, so it’s a significant improvement for him. That, with the improvement in tone and his general alertness and better cognitive function is great.
INTERVIEWER
Are you still making the oil? And how much is he getting? Is he on any other drugs? Just out of curiosity, too, have you ever tried pulling it off to see just how much it actually does help?
LORELEI
No, I’m not making it anymore. We give him both CBD oil and THC drops three times a day. He’s no longer on any anti-convulsants, and is only on a medication for his tone and antibiotics, intermittently. And yes, we’ve stopped giving it to him and have found that within three days there’s a drastic difference. It’s like we have that window — three days.
INTERVIEWER
I just never tire of hearing about these stories. Here’s the big question, though. What’s going on with the progression of the Tay-Sachs? Did the cord blood transplant “work” in arresting the progression?
LORELEI
Well, from a transplant standpoint, he’s considered a success. All the effects of the progression of the disease before the transplant kicked in is what we have to continue dealing with. We like to say that Isaac doesn’t have an expiration date. When he was diagnosed, we were told that he had 2-4 years to live. So, yeah. He’s five years old. He doesn’t have an expiration date anymore.
INTERVIEWER
Thank you so much for sharing this with us today, Lorelei. I’m sure you’ve heard it many times over, but you’re an inspiring person and your son is beautiful. Do you have any other words for us today?
LORELEI
I do! I think I want people to know how important it is to reach out to other people when something like this happens to your child. It’s so difficult when you’re looking at all these therapies, and with cannabis it’s particularly daunting because of the taboos. When your family member has problems, go ahead and reach out. There are larger and larger communities with a variety of people to talk to. I’m so glad that we have all different types of people with all different beliefs in the cannabis community. I encourage people to reach out and get started.
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