'My baby living on borrowed time'

Ruth Wambui, 23, welcomed her baby, Neillah who, despite being diagnosed with jaundice after two weeks of birth, appeared normal.

Jaundice, according to the doctor, was not severe and it healed up after days of exposing her to the sun.

But at the age of three months, Wambui realised her baby was not hitting developmental milestones typical of her age; like sitting down and holding her head.

“Neillah was very weak, floppy and her weight in Kilograms had stagnated. She was only gaining grams but the doctors said it was a normal occurrence,” she recalls.

Wambui and her husband sought a second opinion from a pediatrician when the baby was now six months old.  She was diagonised with rickets and put on a three-month medication to boost her vitamin D levels.

“We carried on with the medication and exposed her to the sunlight but her condition remained the same after the three months. Upon returning to the hospital, the doctor told us we should see a neurologist and at the same time we should resume occupational therapy to strengthen her muscles,” Wambui says.

“We started the occupational therapy at Nairobi Hospital and it was very expensive, each session costs Sh4,000 and the baby needed three sessions every week,” she added.

After 10 months they went to see a neurologist and the first question the doctor asked was if they were related. The results were to be out in three weeks but they never went back for them.

On March 2019, Neillah was rushed to Nairobi Hospital after she developed breathing difficulties and high fever, it was then that the baby was diagnosed with Spinal Muscular Atrophy (SMA), a genetic disorder that causes muscle weakness and makes them grow smaller.

Neillah had type 1 SMA which the doctors said it is the most severe.

“The only words I remember the doctor saying was enjoy the little time you have with your baby because you never know what will happen, the condition has a lifespan,”  Wambui remembers the doctor telling her.

Babies with SMA don’t get to two years and there are four types of the disease. Type One has a weak and a strong variety.

SMA usually affects the baby’s ability to crawl, walk, sit, and control head movement. It can also damage the muscles used for breathing and swallowing if the condition worsens.

This diagnosis basically turned Ms Wambui to a nurse. A nurse to her own baby, with her bedroom now looking like a hospital.

“I was literally taught to be a nurse in one month for my baby,” she says.

But the tearful mother breaks down, every time she thinks of the little time she has to live with her daughter, even as the expenses of taking care of the baby go through the roof.

“Every time you are looking at your baby, you already know she has an expiry date. Every day you are wondering is it today? Is it tomorrow? …you just don’t know,” she says.

 The unemployed couple has no medical insurance which increases the challenge of caring for the baby.

 Now all she does is watch over her baby as she hopes that one day a good Samaritan will walk through their door and help them cater for the treatment costs, the hospital bills at Nairobi Hospital and the drug used in the gene correction which she says costs up to Sh13 million for the first session because it uses some of the most expensive drugs in the world.

What is SMA?

According to the US Food and Drug Administration, SMA is a rare genetic disease caused by a mutation in the survival motor neuron 1 (SMN1) gene.

“The gene encodes the survival motor neuron (SMN) protein – a protein found throughout the body, which is critical for the maintenance and function of specialized nerve cells, called motor neurons. Motor neurons in the brain and spinal cord control muscle movement throughout the body. If there is not enough functional SMN protein, then the motor neurons die, leading to debilitating and often fatal muscle weakness,” according to FDA.

Some of the symptoms of SMA include, difficulty in swallowing, breathing and controlling head movements. The symptoms may be present at birth or by the age of six, says FDA.

“Children with SMA experience difficulty performing essential functions of life. Most children with this disease do not survive past early childhood due to respiratory failure” said Peter Marks, M.D., Ph.D., director of the FDA’s Center for Biologics Evaluation and Research.

On May 14, 2019, the FDA approved Zolgensma, the first gene therapy approved to treat children less than two years of age with SMA, the most severe form of SMA and a leading genetic cause of infant mortality.

It is the second treatment approved for SMA after Biogen’s Spinraza.

According to biospace.com, “The current price for Spinraza is $750,000 [Sh75 million] for the first year and $375,000 [Sh37.5million] for every year after for the life of the patient. It is approved for all forms of SMA, types 0 through 5.”

And according to Forbes, Zolgensma therapy costs approximately $2.1 million [Sh210 million], the most expensive treatment on the market.

These are the type drugs Baby Neillah needs to survive.?