Struggle with Joubert’s Syndrome: Despite his condition, my son is a fighter

Roselyn Kanja’s son, Morgan Odero is only one of four people in Africa, and one of 600 in the world who have Joubert’s Syndrome (JS); but this has not stopped this family from relishing their bundle of joy. 

Morgan is 18 months old. Before he was diagnosed with JS, we got an indication that something was wrong when I was eight months pregnant.

A scan showed that there was a missing part of his brain called the cerebellar vermis, which is in charge of coordination and movement.

Morgan was also diagnosed with Dandy-Walker. This is a rare genetic malformation involving the fourth ventricle and the cerebellum.  

When Morgan was born, one of his kidneys was not working. I also noticed that he had abnormal breathing, and I told the doctor as much.

The doctor said it was normal. At around three months, Morgan developed severe jaundice and necrotising enterocolitis, a condition which damages the inner intestines. He stayed in ICU and HDU for about 21 days.

He was floppy, so we sought another opinion. This doctor said that, though we did not know what it was, it was best to start occupational therapy (OT).  

Later, a brain MRI revealed that Morgan had JS.

Delayed milestones were JS’ telltale signs. Morgan recently just attained neck control and strength, something babies acquire at around two to three months. He can now sit while supported, but he cannot bring himself to sit.

Morgan started gaining the use of his arms at around 11 months. The arms were floppy and always hanging on his side. Cognitively, he does not babble as much as he used to. He will just scream in delight.

I run a design gig at home. I took a year away from work. Every muscle in Morgan’s body is relaxed. He would choke while swallowing and struggle while breathing. I had to be around to take charge and guide the help.

Exclusive breastfeeding was hard. I gave up at around four months because he could not gain weight. At six weeks, he had totally fallen off the chart.

JS strains family finances. The first five to six months, I was in hospital three to four times per week. There are many complications that come with JS. And you have to see about five different doctors.

I’m in a global group of families affected by JS. JS is wide - the spectrum is crazy. There are kids who are on the extreme side. And then we have a 47-year-old lady in our group who found out just last year that she has JS.

Morgan’s readings show that he has elevated hypertension. This is something we have to closely monitor. But we deal with what comes up on any particular day.

Morgan is not any medication. There was a time the doctor advised that we would need to put him on hypertension drugs. We declined and said we would wait and see.

About leading a normal life, we’ll have to wait and see on that too. But we are hopeful. Morgan’s OT helps so he can catch up with his milestones. In the last couple of months, we have seen a significant uptake in his muscles.

The way babies take items and drop them? That annoying behaviour that most mothers complain about? That’s a blessing to us.

If Morgan will not talk, we will teach him sign language. We want him to live as normal a life as possible.

My husband is supportive. Besides, the global group helps. Sometimes, the shared experiences make me ahead of my doctor. From the info I glean, I advise him to consider certain medical measures.

There was a time Morgan was sweating profusely. I mentioned it to the doctor. He said it would stop. In the group, most parents were complaining about the same issue.

The sweating is an endocrine system. You deal with it by making sure the baby is lightly dressed. Then you go outside with your baby and every mother is hissing, “Mama? Funika mtoto!”  

Compared to Adrian, my firstborn, Morgan is a calmer baby. He is happy, jovial and always smiling. There are kids who refuse OT and start crying. Morgan will keep trying.

Morgan has interesting personalities. He hates potatoes and rice. He knows everyone in the family, and knows visitors. 

Morgan is a happy child. This makes it easier for everyone. When I look at him, I am happy because I know it could have been worse.

What is Jourbert’s Syndrome?

Jourbert’s Syndrome (JS) is a disorder of brain development that may affect many parts of the body. It is characterised by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem.

Jourbert’s – pronounced, zh??-b?rz - is a genetic condition and does not have a cure. You deal with symptoms as they come up.

Some characteristics of JS are abnormal breathing, abnormal eye movement, medically known as nystagmus and kidney issues.

JS is classified as a rare disease. Rare diseases can be debilitating in one way or another, and have a low prevalence rate. Currently, there is no database of the rare diseases that we have in Kenya.  

Roselyn Kanja and other affected and concerned persons are in the formative stages of forming an organisation called, Rare Disease Kenya. This body will advocate for the rights of people living with or parents of children with rare diseases. They want to create support networks so that people can share their experiences.

“We want to tell people that these rare diseases exist, and they’re genetic and medical conditions,” Kanja says. “People have been lied to that they’re bewitched or cursed, so they don’t seek medical help.”

“The opposite is actually important, especially when you have children who need physiotherapy at an early age; you’re able to change the course of things like mobility if you seek early intervention.” 

Rare Disease Day in Kenya will be held at Gertrude’s Children’s Hospital, Muthaiga on February 24, 2018.