Racing against time to find treatment for my ailing daughter
Harriet James @harriet86jim
When Kathure Mithika gave birth to her second-born daughter in January last year, she was perfect.
Weighing 3.8kgs, she was a bubbly baby with dark curls and bright brown eyes that lit the room and warmed her parents’ hearts.
When it was time to be weaned at six months old, she could feed herself with a spoon like any other child.
Kithure recalls how her baby, Ayah Lundt, loved bananas and marshed broccoli and detested avocados. But something strange happened when Ayah turned nine months old.
“She suddenly lost all the progress she had achieved. Her legs became jelly-like and caved when she tried to crawl or stand. She couldn’t lift her head while lying down or even sitting on her own,” Kathure narrates.
She adds that one of the red flag she noticed was that Ayah couldn’t eat oatmeal on her own, something she had done several times before. She knew something was wrong.
“We called our assigned home nurse and after several examinations, my baby was diagnosed with spinal muscular atrophy type 2 (SMA-type2),” she says.
A rare genetic disease, SMA affects the central nervous system and voluntary skeletal muscle movement.
It, thereafter, progresses to affect the central nervous system, which affects the essential functions such as walking, hand movements and feeding.
In time, the patient will lose their ability to swallow and breathe and will die if no treatment is given.
Though African and Kenyan statistics are unclear, globally, one in 10,000 live births have SMA, with more males affected.
“Unfortunately, SMA is complex and not a single disorder. Historically, the SMAs were classified based on age of onset and clinical presentations.
These classification schemes remain useful despite significant advances in molecular genetics of these disorders,” explains Dr Peter Muthinji, a specialised neurophysiologist.
Generally, SMAs are categorised from Type1 to Type 4, with Type 1 as the most common, presenting in the first six months of life.
Type 4 is the least common. Amongst infants with Type 1, the symptoms include impaired head control, profound weak muscle tone, poor feeding, weak cry, respiratory distress and severe diffuse weakness affecting predominantly the proximal muscles.
“The affected patients are never able to sit independently. Children who have it have a normal IQ, but sadly those with SMA type 1 usually die within the first two years of their lives due to respiratory complications,” explains Dr Muthinji.
SMA type 2, the one baby Ayah suffers from, usually presents itself at around six to 18 months and manifests as decreased tone as well as delayed motor milestones.
The child is unable to sit unsupported. Though some patients might be able to stand using a long leg brace, or standing frame, they will never be able to walk on their own.
Type 3 is a relatively mild form that begins at 18 months and with this kind, patients can stand and even walk.
The only thing they have challenges in is arising from the floor or going up steps.
“For SMA type 4, patients show a gradual onset of muscle weakness in adult life, with a typical onset in the third or fourth decade,” adds Dr Muthinji.
Unfortunately, the ailment has no cure.
At home, Ayah’s treatment consists of getting breathing assistance twice every day.
A device referred to as Continuous Positive Airway Pressure (CPAP) is used to increase air pressure in her throat so that the airway does not collapse when she breathes in. They use music to soothe Ayah, as she is not a fan of the treatment.
In addition, Ayah receives alternative medicine through a lumbar puncture (a medical procedure in which a needle is inserted into the spinal canal) after every few months.
To strengthen her muscles, Kathure and her husband, Frank Lundt include other activities such as crawling.
“It’s been quite challenging. We can’t sleep and have to rotate to take care of the children and to cater for our daily needs.
It has also taken a lot of our time and too much tears and sweat, but it’s all worth it for our little girl,” says Kathure.
On December 5 last year, Ayah started on Spinraza, medicine used to treat SMA.
Approved in 2017 by the European Medicines Agency, it is the first disease-modifying SMA therapy.
Currently patients and caregivers can get their money back if they get this treatment in Denmark, where Kathure and her family lives.
Though her daughter’s condition has stabilised as a result of this treatment, Kathure says it has not yet improved.
The treatment they now need to stop the decay of their daughter’s muscle is Zolgensma, a brand new gene therapy that can repair Ayah’s genetic defect.
The one-time treatment that costs Sh230m is effective in children up to two years old.
While it is accepted in the European Union by the European Medical Agency, the Danish Medicines Agency has only approved the treatment for SMA type 1 patients, which cuts out Ayah from the treatment.
Hospitals in other EU countries also declined to accept Ayah as a Zolgensma patient, her mother says, with “most treating their residents only.”
In the US, the Food and Drug Administration has approved gene therapy drugs including Spinraza, Zolgensma and Risdiplam, which are not only not readily available, but are also by large very expensive.
Kathure and her husband found out their only hope is to head to the US to get treatment, which means raising around Sh270 million, which also includes money to travel to the US, to cater for living arrangements, and other costs related to the treatment at Boston Children’s Hospital.
Time is running out since Ayah turns two next year in January and the drug will not be effective after her birthday.
“People are asking us why we are not looking at other hospitals, but before we settled for Boston, we had written to more than 10 hospitals in the US, Italy, Germany and Dubai.
Some rejected us, but others agreed, though the price was too high. Also the paper work to be done was insane,” recalls Kathure.
With a team that assisted them in the research and finding the hospital, Kathure and her husband carefully vetted the neurologist who would treat their daughter.
They conducted a thorough background check, and looked at how many children he or she has treated and their qualifications.
“Our goal is to see Ayah walk and while most people cannot see the importance of having her walk.
I feel she has a very big chance and will benefit from not having respiratory diseases in future,” she explains.
All the setbacks and challenges have not deterred this strong-willed couple’s determination to save their child.
Through their social media campaign dubbed ‘Friends of Little Ayah’, they have raised funds, shared videos of their daughter’s progress and urged followers to tag anyone who can help donate via various platforms, such as GoFundMe. They have so far raised Sh215 million.
“What has surprised me is how many people, particularly Kenyans, have come together to assist us in raising the cash.
I never imagined in my life that I would be in such a position and that I would have so many people come together and just support us.
I’ve met incredible people and I’m forever grateful for their love and support towards me and my family,” says Kathure.
You can support Ayah through Mpesa Paybill 8030789, account name, Ayah or via the bank.
Account details Ayah Mithika Lundt, Address: Hoejegaardsvej 4, Roenne Denmark, Bank: Arbejdernes, Landsbank, IBAN: DK8453030009665072, SWIFT: ALBADKKK.
