Our Son’s Journey With Down Syndrome and a Rare Seizure Disorder

Our first child, Jordan, was born with Down syndrome in 2001. I was 31 years old. My husband and I were not expecting this diagnosis and it was overwhelming at first. Jordan stole our hearts the moment we saw him.

As soon as was possible, Jordan received early intervention. After evaluations, he was considered to be in the mild/moderate range of intellectual and physical disabilities. He was a wonderful child, with some behavioral issues starting at the age of 3.

We got most of his behavioral conditions under control around the time he started first grade, but he would have some challenging days and was diagnosed with ADHD, anxiety and a sleep disorder. We had some tough days with his behavior and all of his endless energy but with medication, therapy and patience, we were making it work for the most part.

At the age of 9, our energetic little boy began falling for no reason and had several injuries to his chin and face. We had no idea why he was simply falling to the ground. Once while getting stitches for the second time in less than a week for a chin injury, the doctor thought Jordan may be having atonic seizures. He told us to call a neurologist and make an appointment.

It was difficult getting an appointment and we were on a waiting list for three months. I was frustrated and told our school nurse. The school nurse told us the next time Jordan falls, take him directly to the ER and tell them you think it’s a seizure. I did so, and this was some of the best advice I received since I knew we could not wait around for three months to figure out what was becoming more apparent each day.

It was confirmed in the ER that Jordan was having seizures. They ran an EEG on him for a few days and discovered abnormal brain activity. I felt relieved to know what was causing the falls, and thought a medication could provide the help we needed.

He started taking medication, and it did not help. We increased the amount – it did not help. For weeks this continued. For weeks, it seemed to get worse – even more seizures than before. Then, we tried another medication and it did not help either. I cannot even remember all the names of the medicines, but I know we tried at least eight different ones. Some medicines caused undesirable side effects, worse than the seizures themselves, such as psychotic and manic behavior, sudden weight loss, insomnia and incontinence.

After several months of taking a variety of medications, Jordan was later diagnosed with LGS, Lennox-Gastaut syndrome — a rare seizure disorder that can be life-threatening. There is no cure for LGS and the best thing one can do is to manage the condition.

Hearing this was like the first time I heard Jordan had Down syndrome – it was a lot to take in and I wish I could do something to help my child not struggle so much in life.

Since no medication or combination of medications were working, our second line of defense was VNS therapy (Vagus Nerve Stimulator). The VNS was surgically placed inside his upper chest to help with shortening and decreasing seizures. At first, the VNS appeared to work but as time progressed, the seizures came back.

With this failure, our next strategy was brain surgery. In 2015, Jordan had a special brain surgery (a partial corpus callosotomy procedure and then a full corpus callosotomy was done four months later) to once again fight the seizures he was routinely having. The surgery did not give him freedom from all seizures, but it was able to give him a better quality of life.

The surgery was not an easy one – I felt guilty putting him through this and not knowing what he would be like afterward. I knew it would not be 100% effective, but at this time, I just wanted him to have a more comfortable existence – his life was completely restricted before his surgery for fear of falls and his daily seizures were causing him and us to be more socially withdrawn and stressed.

After the surgery, his seizures were less severe and less frequent. However, the brain surgery did negatively impact his speech. Speech was one of his best attributes and this was a big loss. Fortunately, with increased speech therapy, he has made some improvements.

In the Fall of 2019, Jordan began taking a new medication combo. At first, it made him extremely tired. He would sleep 18 hours in a 24-hour day. Once the dosage was continually adjusted (after several weeks), we did notice some improvements.

Currently, Jordan takes less medicine than before (since last Fall 2019) and has some seizure-free days, but is not seizure-free. On an average day now, he has one or two small seizures a day, but remains somewhat sleepy (but is up a majority of the day instead of sleeping 18 hours a day). He has regained some speech and is more active than six months ago. Overall, he is doing his best now than in several months and years ago when his seizures first wreaked havoc on his life.

There are still some rare days when he may have a clustering of seizures. On those days, we use a seizure rescue medicine. If the rescue medications do not work, we notify his neurologist and take him directly to the Mayo Clinic ER in Phoenix.

Our life now:

Jordan can say words with prompting and has some independence at home with activities, but still requires much supervision for safety reasons. He needs help with eating, bathroom and bathing.

For outings, we use a travel wheelchair to transport him safely. We use a velcro back brace to put around the wheelchair so he is contained well, and if he does seize in his wheelchair, he will not fall out of it.

When we moved to Arizona from Georgia in 2017, we opted for a one-story house. Not dealing with stairs put us at ease not worrying about falls and injuries due to a seizure on the steps. At our old home, we used baby gates for stairs and would supervise him and escort him downstairs always.

We have no hard furniture in his bedroom. We use faux leather brown ottomans to put his clothing and other items. If he falls at night, he will not hit a hard surface. We have bean bags and area carpets in his room to make for soft landings.

We have large walking spaces throughout our house and furniture with protruding corners are nowhere near Jordan’s immediate living area.

We still travel and live our lives but we bring his travel wheelchair, a helmet, and all of his medicines, including his rescue medicine.

Jordan attends a respite program, but has stayed home most of 2020 as COVID is a big threat to his life. He has friends, he loves music and Disney Pixar videos, his dogs and has a full life with our accommodations.

It has not been an easy journey. Most people will never know what it’s like to have a medically complex child who also has Down syndrome. We simply do what we can, make it work and always do our best for our son.