Journey with Yasho
As a parent, your children are your world and your partner is your best companion. I am married to Lakshmi and together we have 2 sons – Yasho and Sudeep. Yasho is my eldest. He brings my life into perspective and see what is important. I am not a story teller but I believe his story must be heard and awareness towards white matter cell research should grow.
Yasho - 0 to 3 years
The beginning of “us” Since our marriage, expanding our family was a dream and after conceiving Yasho, the dream became a reality. We were living in Taiwan then. Pregnancy was normal and the routine checkups did not show any abnormalities. We travelled to India for delivery. After a wait of nearly 24 hours for the delivery, gynecologists brought Yasho into the world via C-section. In the first 3 months, his life was normal other than bearing us – the over excited parents and family. He was active and laughing loudly as early as3 months old.
Baby YashoYasho was 4 months old when he and my wife moved to Germany to join me. That nagging observation of delay in achieving milestones such as such as holding head, turning side-wise, and crawling, led us to take Yasho to a Children Specialist in Berlin. Blood test results showed an elevated CPK (Creatine Phosphokinase) values and that indicated some muscle disorder. Children Specialist referred Yasho to neurologists at Charity Hospital in Berlin for further investigations. After preliminary tests, neurology doctors at Charity hospital suspected a genetic neurological disorder. We underwent further medical tests. Yasho was receiving physiotherapy, twice a week since he was 5 months. Our health insurance in Germany was not covering all the suggested diagnosis tests. This led us to decide to return home to India. We went back when Yasho was 11months old.
Toddler YashoWe brought Yasho to Dr Kumaresan, a senior neurologist in Chennai. Dr. G Kumaresan is Paediatric Neurologist. For us, it was the first time seeing the patients of all ages with neurological disorders. The sight at the waiting room shook us and shocked us to the point of tears and speechlessness. Yasho’s future played infront of our us - those were the toughest moments of our lives, imagining a future of 11 month old baby. Dr Kumareshan suggested to give intensive physiotherapy to Yasho for few years without bothering the diagnosis of the disease. Accordingly, we organized a dedicated physiotherapist for Yasho. Physiotherapy was given for two and half years, two times a day. Yasho benefited from this intensive physiotherapy. He started holding his head and even standing for few minutes by holding chairs and tables. He was also walking when we held his hands.
Yasho - 4 to 10 years - You grow and you learnWe fell into a routine and felt comfortable enough to travel. My work brought me to Netherlands. After few months, Yasho and my wife joined me. Life did seem to come around. We tried to continue to give the physiotherapy learned back in India to Yasho at home. Every day we did physiotherapy two times and this is continued to till Yasho was 8 years old. There were days we couldn’t manage but we tried our best. My wife, Lakshmi, has been instrumental in organizing the required aids from local government - we received walking aid, standing aid, and sitting aid at home. Lakshmi started getting more involved with therapists and getting lessons on how to use the different instruments and help Yasho better – at school and at home.
Yasho was admitted into a special children (play) school at a revalidation center in Rotterdam in January 2009. He was getting different therapies regularly at school - Physiotherapist, logopedist, occupational therapist and a revalidation doctor were helping Yasho to improve motor skills, language, day to day activities and health issues.
In 2009, We reached out to a senior neurologist, Dr Coo at Erasmus MC Rotterdam. Dr Coo and his team at Sophia also started investigations to diagnose Yasho’s disease. The research studies were carried out at Erasmus. However, they couldn’t diagnose the disease for very long time, nearly 3 years. Epilepsy problem surfaced when Yasho was around 7 years old. He started using medicines prescribed by Dr Coo to keep the epilepsy under control.
In 2011, Dr Coo referred us to a specialist doctor- Dr Nicole Wolf , who is a part of white matter disorders research group at VUMC, Amsterdam. She also became one of the doctors in the research group.
We longed support – and we received it in forms and ways we didn’t even know possible. Most incredible of them was from Damiani family from Australia whose son is also battling with similar rare genetic disorder. Their foundation - Mission Massimo – takes lead in raising funds towards supporting white matter disorder research. More here: http://www.missionmassimo.com/
In 2012, when Yasho was 8 years, Dr Wolf at VUMC along with a group of researchers around the world made a huge step medically by identifying Yasho’s disease as Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL). HBSL is characterized as a progressive inherited white matter disease (also called Leukoencephalopathy) that affects the brain and spinal cord. Leukoencephalopathy refers to a group of genetic disorders characterized by imperfect myelin, which is the fatty that covers and insulates nerve fibers. HBSL is one of the variants in the 10’s of white matter disorder diseases. Development of diagnosis method for HBSL has come from the pioneering research done by a g team of researchers and doctors around the world. Mission Massimo generously supported us through this.
I will describe Yasho between 4-8 years as the best years in his life physically, despite having reduced motor skills for his age. He was enjoying all the activities such as playing with toys, his school, spending time with friends, and travelling with us. Yasho used to crawl on his stomach, walk with the help of walking aid, and used to manage bicycle for 200 to 400 m once or twice a week. We could travel more and took him to short trips. Yasho particularly loved those trips – Disneyland Paris being his all-time favorite. Of course, travelling to India visiting family were easier back then.
Yasho - 10 to 12 years- Life as we know today
School Yasho has always enjoyed school. He was always cheerful in his classes and enjoyed his lessons, even with in his limitations. This continued till he was 10 years. From 11 years onwards, his energy slowly reduced. He could not actively participate in all the activities. By 2016, he was not able to attend whole school. However, he has been attending school with 1 or 2 dips (sleeps of 20 min each). Yasho has also undergone twice operations for his hips in successive years when he was 11 and 12 years old, and this compromised his school days.
HealthUse of prednisolone: After the Yasho’s disease identification as HBSL, there were coordinated efforts from the group of doctors who are involved with HBSL. This led Dr Coo and Dr Wolf decision to treat Yasho with prednisolone, a steroid known to increase muscle strength. When Yasho was 10 years old, he started getting prednisolone via infuse for 3 days once a month. This is continued for a year. His vision improved using prednisolone. He also appeared to gain physical strength in the first 3 months. In a follow up MRI scan to access Yasho’s condition, no improvements in his brain white matter were observed. Later, there were no further physical improvements seen. The initial gains seem leveled off in the later months of the year infusions. Several other unwanted side effects started surfacing and it created unnecessary health issues in the form of rashes and enormous increase of stomach acids which made him to vomit. After a year, the doctors decided to call off giving this steroid.
Tremors in legs We observed that Yasho was getting some tremors (involuntary movements) in his legs since the beginning of 2015, however initially they were not painful. Slowly they increased and by the end of the year, they were intolerant and causing serious pain. This situation worsened when Yasho ‘s hip joint came out of the cup for his right leg. The tremors were worse that sometimes lasted the whole day. Yasho was tired of them and was crying during night and days. This was the first time Yasho was crying out of pain in his life. This image is etched in my mind.
After couple of visits to Dr Coo, (and with the consultation of Dr Wolf), a new medication was suggested to control tremors. Yasho was started getting new medicines to control the tremors in December 2015. Luckily these medicines greatly helped Yasho to minimize the tremors. However, these new medications were not without side-effects. These medicines reduced his liver and lung functions, evident from the reduced breathing ability.
Enteral food: Since child, Yasho has been a slow eater and had issues with chewing and swallowing. These are effects of his lesser physical strength in his muscles and particularly throat muscles. Over the years, weight of Yasho has been low for his age. Moreover, the vomiting of food while swallowing is increased with age. These issues made revalidation doctor, therapists, dietician and us to make a decision for Yasho to go for enteral food. In 2015 June, a small operation was conducted to organize the enteral food tubing in his stomach. From then on, Yasho’s eating with mouth slowly has been reduced and most of the calories were from the enteral food.
Hip joint issues (and surgery): Hip joint issues are known common problems for children with spasticity and for the children who are in wheel chair. Yasho is no exception- having spasticity in his legs and with onset of tremors problem, his hip joints came out from the joints. Consequently Yasho is no longer able to sit in a normal chair and was pained to sit longer hours in his wheel chair. Orthopedics at Erasmus MC operated his right hip in 2015 followed by left hip in 2016 to adjust the hip cup to tightly fit the joint of the hip. It took quite some time for Yasho’s energy levels to recover from the successive operations. Further rehabilitations after surgeries took even longer to completely recover.
Scoliosis: Scoliosis, the significant bend in the back bone, of Yasho progressed at very high speed after the first hip joint operation. Scoliosis was there before as well and used to be 30 degrees in July 2015. After the hip operation, the angle of Yasho’s backbone was increased initially to 60 degrees and is at 70 degrees now in November 2016. This reduced the ability to sit and it’s almost impossible for Yasho to sit without corset. All the doctors and therapists associated with Yasho met in the beginning of the year 2016 to decide on whether Yasho could undergo a back bone surgery or not to minimize the effects of scoliosis. Finally, the team suggested not to go for the operation because he is too weak to recover from such an operation.
Home We moved into a new house in December of 2014, which was completely adopted to fit his needs. Spacious bed and bath rooms were organized in the ground floor of the house for Yasho. A til lift is arranged for moving Yasho from one place to another place. Since 2016 we were getting help (via a care worker) for 1,5 hours everyday morning in all working days. By 2016 in a typical day after school, Yasho was playing little time, more watching television and then listening stories before going to bed. A new customized wheel chair was organized in 2016 for Yasho to fit for his changed condition of physical strength. Similarly a special bed was organized for Yasho in 2016 to give him support while sleeping.
Yasho’s activities Yasho’s energy has been reduced progressively from 8 years old onwards and that was more severe from 10 years onwards. Consequently Yasho’s movements have been reduced over the years. The activities that can be enjoyed by Yasho have minimized. Therefore the amount of care/attention required for Yasho was enormously increased over the years. By 2016, Yasho is in need of help for everything except watching television.