Functional Adaptation for Familiar Faces

Two years ago, I had the pleasure of meeting Gousiya, Mustafa, and Abdul, three siblings who are all diagnosed with muscular dystrophy. With donor funding, we were able to provide their family with a wheelchair to transport the kids to and from school, a small desk to enable them to do sit upright while doing homework, and splints for Abdul, to prevent progression of his calf contractures. Read their full story, and learn about muscular dystrophy here.

In my first week back, I discovered that Samarthya has continued their involvement with this amazing family by funding and orchestrating the construction of a toilet!

Abdul, Gousiya, and Mustafa (L-R0, Oct 2015

Abdul, Gousiya, and Mustafa (L-R0, Oct 2015

Previously, their mother Rashida was carrying each child to their uncle’s home (nearby, but still inconveniently far enough) to use the toilet. As the children have grown, this became increasingly difficult for her, eventually causing her severe back pain.

Samarthya’s Functional Adaptation Program, with lots of work from the German volunteers Fabian and Jonas (who produced the summary below), improved the quality of this family’s day-to-day lives by alleviating some of Rashida’s physical demands. If you want to see the process, or if you happen to want to learn how to build an Indian out-house, check out the photos below!!final feedback report-page-002 final feedback report-page-003 final feedback report-page-004

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Family Focus (squared) – Muscular Dystrophy


At Kids Physio Group in Vancouver, I have treated close to 300 different children and have only seen a spatter (maybe two to three) who have had a diagnosis of muscular dystrophy (MD) of any kind. For those not in the medical world, muscular dystrophy is an umbrella term for a group of conditions that are characterized by a weakening of the body starting at the muscle cell level. There are many types of MD; some types are non-progressive and these children work very hard to gain as much strength and function as possible. Other types are unfortunately progressive, as these children often develop normally and then experience difficulties such as tripping and falling in later childhood. Some types are so quick to progress that they are heartbreakingly fatal.

Genetics 101: In reproduction, there are 23 total pairs of chromosomes (the molecular strings of DNA), one of those pairs determines the sex of the baby: X + X = female, and X + Y = male. In one of the more common types called Duchenne’s Muscular Dystrophy (DMD), the mother is often the carrier of the gene and doesn’t show any signs, and then passes on her X gene to any sons who will then express the disease. For the visual learners out there:

DMD chart

DMD is a fairly rare condition with an incidence of 1/3600 boys and is even rarer for girls (stats actually unknown due to rarity, we’ve read that the carrier genes can be activated due to other cell functions). The genetic combination results in a mutation of the dystrophin gene coding for a main muscle cell protein. The result is progressive damage and fat infiltration into each muscle cell and an inability to repair itself, leading to a non-functional muscle. First those muscles closest to the trunk are affected, and as the disease progresses it affects limbs, lastly affecting the hands, face, and cardiorespiratory muscles eventually ending life around 20-25 years of age. It’s an awful disease.

Now that the genetics lesson is complete, let me introduce you to two amazing families with rare genetic odds. The first family has three children: Mustafa (12yo, boy), Gousiya (10yo girl), and Abdul (8yo boy). These happy and smiling kids live with their mother in a family member’s house, as their father passed away a few years ago and they have no property of their own. Upon seeing the functional level of these children, we knew that Samuha intervention would greatly improve their lives: Mustafa and Gousiya can no longer walk, and rely entirely on their mother to carry them from room to room. Abdul currently is toe-walking and is no longer able to run, and as the disease progression happens in specific stages it will only be a matter of years before he will be immobilized like his older siblings. Because of the timing and presentation (i.e. tripping and falling around 5-6 years old, no longer walking by 10, etc), all three of these siblings appear to have Duchenne’s Muscular Dystrophy.

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Mustafa, Abdul, Gousiya and their mother in front of their house

The second family lives in a gorgeous farming village called Hati. Sachin (11yo boy), and twins Krishna and Praveen (8yo boys) live with their large extended family in a small cluster of houses, each of which has a stable large enough to hold four cows in their living room. No joke – we actually did the consult while the cows were pooping right beside us.

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It’s the definition of a ‘multi-purpose room’

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Sachin

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Praveen and Krishna pictured here with their father at our first meeting during a government clinic day held at a local school

This family is miles from the first family and are totally unrelated to them. Sachin no longer has any function other than sitting in a very poor posture and moving his hands, and the twins are barely walking and can hardly get up off the floor. Looking at their presentation, all of these three siblings also have muscular dystrophy that clinically looks like the Duchenne’s form. ***It is important to note that Duchenne’s cannot officially be diagnosed without genetic testing, but that is rare and expensive here so it’s not an option for most families***

Our plan for intervention was similar for both families:

1) Educate the extended family members on muscular dystrophy and the lack of a cure; the second family had been spending money on bringing the boys to a village ‘bone healer’ who rubbed ayurvedic oils on their ankles and wrapped them in odd bandages promising that the boys would walk in a few months with continued visits…

2) Plan for a all-terrain three-wheeled wheelchair so that the parents could safely push their children to school rather than carry them. When Mustafa and Gousiya sat in the chairs for the first time, huge smiles spread across their faces when they realized they could propel themselves around effortlessly!

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Mustafa and his new wheels

3) Request the workshop to build small tables, only 8 inches high, so that the children could stay sitting cross-legged on the ground but didn’t have to do their homework or eat on the ground. Gousiya actually has a fairly severe scoliosis due to asymmetrical leaning forward to write on the floor. One of the German volunteers, Liander, designed and constructed a beautiful table that the children loved!

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Gousiya and her new table where she can do homework and draw – she’s quite the artist!!

4) Create a resting/stretching splint for the still-ambulatory children to try to provide a more functional ankle position for the inevitable contractures that will occur

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Abdul getting casted by Liander for a stretching splint

5) Teach the family very gentle stretches for hamstrings and calves, as well as range of motion exercises to prevent joint contractures. Sachin (11yo boy) was one of the worst cases we’ve seen – he had no medical management to this point and had very painful and contracted hips, knees, and ankles because he had just been sitting cross-legged (no walking or any other activity) for the past year.

Local worker Prabhakar teaching range of motion for Sachin's very contracted joints

Local worker Prabhakar teaching range of motion for Sachin’s very contracted joints

It was unlucky genetics that led to these two rare stories of muscular dystrophy affecting all children in a family. Samuha is doing wonderful work here in South India for families like these who would otherwise have no intervention. Thanks to the funds we collected with our Dollars For Development campaign, we were able to gift the wheelchair and table (total $150) to the first family who had no real income. It felt so good for us to be able to give them the gift of mobility!!