My seven year old son is my HERO
By Felicia Jones
It was around Halloween of 2017 when we noticed Benjamin was more fatigued, cranky and just not acting himself. He would sleep as soon as he came home from school and was complaining of aches and pains, mainly located in his legs. Originally we thought the clumsiness and leg pain was a side effect of the tibial torsion (an inward twisting of the shinbones located between the knee and the ankle) that he had as a toddler and we were told would correct itself over time. We decided to keep an eye on him and for a little while he seemed to be doing okay.
Then around mid-November he began walking strangely as if he couldn’t quite figure out where to put his feet, almost like someone who’s had too much to drink. It then quickly progressed to falling – then falling a lot, including at school. He seemed to really be struggling with his balance especially on stairs. His teacher even reached out with concerns so we decided it was best to have him checked out.
His appointment with PCP was the day before Thanksgiving. He struggled to walk in the hall for the doctor and they x-rayed his hip to be sure we hadn’t missed an injury and to check for septic hip. The x-ray came back normal. Labs were drawn and the doctor also performed a neurological exam. During this exam she noticed a difference between his pupils and decided it warranted a STAT CT. We were sent to UVA straight from her office. I was so flustered and trying to make sure we arrived on time, I actually received my first speeding ticket, oops. We had the CT and were sent home to await results. Later that day as I was leaving for work the PCP called and said the labs were normal but they had found something called Chari Malformation on the CT and that they were setting up referrals with neurologist for after the holidays. We were in shock to say the least.
Over Thanksgiving holiday I noticed a rapid decline in his walking as well as him complaining of more pain, and new pain in his arms. I came home from work, picked him up and dropped him off at school Monday. Before leaving the parking lot I burst into tears. I felt like he wasn’t safe even though his teacher and administration were aware of his circumstances and had implemented a hallway buddy and elevator access. This info was relayed to his PCP and it was decided that instead of waiting for follow up referrals that we needed to take him to the ER, so we did just that. It was a very long day/ night in the ER, I had to miss my scheduled shift that night because I had zero sleep. After tons of labs, a urine specimen and a full spinal MRI with contrast we were released at 2am with no real answers. The following morning a neurologist called and said that the Chari Malformation they found on the CT was not causing his symptoms but they did find that all his spinal cord nerves were severely inflamed which led them to believe he had some sort of autoimmune response happening.
We made a plan to come in, have a nerve conduction study and stay overnight – ONE night – to receive an IVIG treatment. Much to our surprise, and the doctors, Ben’s nerve conduction study came back NORMAL. This made the doctors rethink the diagnosis and prompted them to double check for any infection. He had a brain MRI that night and we planned to have a spinal tap done the next day. The brain MRI showed inflammation in his cranial nerves and optical nerves. The spinal tap required him to be sedated and was a scary experience for everyone. He was a trooper and did wonderfully. The results yielded no signs of infection but his protein levels and spinal pressure were very elevated which once again suggested something autoimmune.
They decided to go ahead and start round one of a broad spectrum IVIG treatment to hopefully prevent anymore nerve damage. You can only get one infusion per 24 hours and he needed three total. You have to be monitored closely for your first round of these treatments because some side effects include difficulty breathing; swelling of your face, lips, tongue, or throat, drowsiness, confusion, mood swings, nausea and vomiting, wheezing, chest tightness, sudden numbness or weakness, sudden severe headache, confusion, problems with vision or speech, warmth or swelling in one or both legs, fever with headache, neck stiffness, chills, increased sensitivity to light, purple spots on the skin, and/or seizure (convulsions); or pale or yellowed skin so that’s why we ended up with a 4 day, 3 night stay in the hospital. Luckily he had no reactions other than some mood swings! After the treatments we were sent home and continued to have follow ups. The follow ups didn’t go as expected and he started showing more signs of weakness around Christmas. We decided to try a round of heavy steroids and they actually seemed to help him. He was able to tolerate full days at school with his walker and he was doing well with PT until about a month later when he started being more fatigued, complaining of more pain and ultimately falling again with his walker.
We were admitted back to UVA at the end of January 2018. While at the hospital he started to refuse to bear any weight because of pain and legs would buckle when he attempted to stand. His pain finally was under control after doubling his gabapentin dosage. He has undergone repeat full spinal and brain MRI which was unchanged. A lumbar puncture which again showed high spinal pressure and protein level. He had another nerve conduction study and this time an EMG as well. With these tests they were able to see demyelination of the nerves this time that was NOT there in November. They finally had some “proof” that is was indeed an autoimmune disorder and diagnosed him with CIDP. Since the IVIG did not seem to help the first admission he had a hemodialysis cath line placed under sedation so that he could get a total of 5 plasmapheresis rounds and was inpatient for a little over two weeks. The treatments were very tough for him. He had to be pretreated with Zofran because he would become nauseous and vomit, his heart rate would elevate, he would be clammy and exhausted. He even had a slight allergic reaction during the last treatment and had his eye swell, a coughing fit and pure panic. He did not like the site of blood so we had to cover all his lines before starting the treatment and remove carefully afterwards.
He is getting stronger every day, slowly and steadily, but is still not walking full time and can only bear weight for a few minutes at a time, unsupported. He requires a lot of physical and occupational therapy, we go twice a week for two hours at a time. He wears AFO ankle supports while standing and walking at PT to help support him as well as stretch his hamstrings that have become tight from not walking regularly. He uses a weighted spoon to help with his hand tremors while eating. He has a wheelchair and we are working on getting him a walker. His main source of mobility at home is crawling and he is now able to transfer himself to and from the bed, couch etc. He can also now fully dress himself! He uses a shower chair and handheld shower head for bathing and has bars on the toilet for support. He is home bound with school and continues to thrive academically even with his busy schedule. Throughout this whole process he remains strong and determined. Although he has his moments he feels defeated, we do our best to encourage him. His strength inspires me every day all day.