ShouryaShrill cries, semi-comatose condition, feed rejection & hospital as first home, is something which many of us may have encountered over the course of our lives with MSUD. Our story is not different from many of yours as we welcomed our first child along with the experience of MSUD. Our story though is slightly different from many as the country that I belong to is the 2nd most populous country of the world, has the highest population growth in sheer numbers, yet medical amenities are basic and the care for metabolic disorders is a far cry from countries in the West. Just to paint a scenario, India is roughly six times in population size in comparison to USA and has the highest child population in the world. Even though disorders associated with birth is quiet large in number, there is next to nil knowledge or expertise available in the arena of metabolic disorders and in-born errors of metabolism.

Shourya was born on March 1, 2007. With all our wishes coming true and post a normal delivery he was back home the very next day to be a part of the family in person. However the destiny had already decided something else for us and on the 7th night after his birth, he was back in the hospital on a ventilator battling for his life. The doctors tried every permutation & combination including a change in hospital but all in vain as nearly all tests suggested normalcy. The doctors were completely confused and perplexed. On the morning of the 9th day, as Shourya’s condition was deteriorating, one of the doctors suggested a metabolic disorder. On the 10th day evening it was confirmed that he is suffering from MSUD. The only thing the doctors could tell us was to read more on MSUD on the Internet as they themselves had never encountered a patient of MSUD. And some so called well-wisher doctors advised us to abandon him as survival of such cases is an issue beyond a month or so, and on top of it feed (editor’s note: metabolic formula) is not available in India and getting it from abroad will make us go bankrupt in a few months.

Destiny possibly was testing us and we decided that be hell or high waters, we will give our best shot. With the help of internet, we got in touch with doctors abroad and procured some feed which was delivered to us at a lightening speed. From the 12th day onwards Shourya was on the MSUD diet and started showing signs of recovery. In between, Shourya underwent peritoneal dialysis. The internet and tele-communication played a huge role in saving the life of Shourya. And with the help of doctors abroad & locally, we started managing Shourya on a daily basis without even having an inkling of what the future entails for us. We just believed that the Almighty is there with us & as told by someone that special kids come to some chosen ones, we were very clear that Shourya will lead a normal life with us.

In the next few months, we took him to the Great Ormand Street Hospital (GOSH) in London and that was our first lesson with managing MSUD on a daily basis. The doctors there helped us to understand the feed management, the daily assessment of kids and management of the sick day regime. Shourya was by now 3 months old but he was delayed as most of his time was spent in hospital & his nutrition & feed was not managed properly, thus making a baby who weighed lesser than his birth weight by this time now. We realized that MSUD indeed is not as difficult & tragic as it was explained to us initially. But, for us the challenge really was that back in India, there were no doctors who could take care of him in emergency situations. Above this in India there are no feed manufacturers & hence the entire stuff had to be imported always either from US or UK without any financial help from the Government or the Insurance companies.

For the next 2 years, we kept importing the feed and every time we went to London & USA for his regular review, we ensured that we stack up our luggage with his feed, and that we wouldn’t fall short of his daily requirements. Not only the cost of these medicines are huge, which we all know but, to import the same in my country there is 200% import duty and thus typically one tin of Analog or MSUD complex which costs say $50 in USA, the landed price for us including courier was somewhere around $180-$190.

We ensured that Shourya never misses his weekly HPLC test & twice a week DNPH tests. We tried to insulate him from normal infections as much as possible, but going forward we knew that it will be a tough ask to manage him like this for long as:
  1. With Shourya growing up, his feed requirements were increasing and with no variety available continuing this scenario for long was becoming a challenge.
  2. With Shourya growing up & by the 15th month he was on track with all his developmental milestones, it was a tough task to keep him away from normal food and children at large...
By now, we felt assured that minor infections & emergency regime protocol was not so much so a big problem for us or for the doctors but critical illness management was still a challenge for the doctors because of no experience, lack of TPN availability and general acceptance of MSUD disorder as a priority in a hospital. We had by now, seriously started contemplating a liver transplant for Shourya, though some doctors in UK as well as in India believed that managing Shourya with MSUD is a better option than undergoing for a liver transplant.

ShouryaI visited the June MSUD symposium at OHIO in 2008 and met up with most of the MSUD kids & adults who underwent the transplant and their parents. I also went and met up the Pittsburg child hospital team and when I returned back to India, I was quiet clear that we will be going for liver transplant. The only question was when and where? We immediately got in touch with the liver transplant unit at Sir Gangaram Hospital in Delhi and the doctors there were very confident that it can be done. They parallely started their research with doctors abroad and within a month, we did a pre transplant evaluation for Shourya. Every possible research that was required, including a DNA assessment was done for the transplant process; with a view to make transplant happen asap. Getting a cadaver organ is next to impossible out here, however in India live donor transplant is quite common and hence we just needed a donor to make it happen.

By this time, the destiny had a different color and my sisterin- law Mukta, immediately came forward to donate her liver. As liver grows back in the donor’s body within 1-3 months to its original shape & size this mother of 2 kids took up this great challenge for sheer love & affection for our baby. She was our Lady Nightingale.

Shourya was transplanted last January inheriting 20% of the liver from his aunt Mukta & in turn gifted his liver to Sia, a baby girl of 3 years who was suffering from LCH (Langerham cell Hystocytosis) with a terminal liver failure. The Live donor cum Domino transplant happened for an MSUD case for the 1st time in the world. Shourya is also one of the youngest donors in the world today. Today we are very happy that all the 3 (Mukta, Shourya & Sia) are doing well. Like his Aunt Mukta, Shourya is a proud donor to Sia and we firmly believe today that no condition is non-manageable, yet to manage a condition; one must ensure a thorough discipline. We are greatly indebted to many doctors and their support staffs both in India and abroad who have worked relentlessly and also my family and friends who not only provided physical, mental and emotional support but also stood by us during this journey.

From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

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My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

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I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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A Child's Life

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