Russia is a very big country, but there are very few confirmed cases of MSUD. I am convinced that this is because children died undiagnosed rather than that few children with this disease are born. When my daughter Nadya was born 6 years ago, I was told that she was the first child with MSUD in Russia.
After the diagnosis, it took 4 weeks to receive MSUD formula ordered from the UK. Only by 6 months did Nadya regain her birth weight of 3900g. She was in the hospital for 9 months. When I brought Nadya home, doctors were pessimistic about her prognosis. I put all my energy into Nadya’s rehabilitation. She received massage therapy, physical and speech therapies along with other therapies. We went to special in-patient rehab centers several times a year for intensive therapies. Nadya was followed by a whole team of doctors including a specialist in genetics, specialist in kidneys, neurologist and a dietician. Unfortunately, late diagnosis and the prolonged period without formula left Nadya with a severely damaged nervous system, kidneys and liver. By the time Nadya was 5, we had to stop massage and other intensive therapies because of her severe seizures. She is now doing a very mild regimen of exercises at home. Problems with her kidneys and digestion lead to constant toxic levels, vomiting and very poor appetite.
Looking back, I realize that there was no chance for things to turn out any better. At the best children’s hospital, doctors knew nothing about MSUD. I did find out later that there was one diagnosed case of MSUD in 1994. Due to the financial crisis in our country at that time, neither parents nor the government were able to provide the baby with the formula. The child stayed on IV and died at 6 months.
There have been two more cases of MSUD in Russia since Nadya’s.
In 2002, in St. Petersburg (second largest city in Russia), was born a boy, named Egor. He was diagnosed at 1 month and received formula a week later. Scared of the financial responsibilities, his parents gave him up to an orphanage. I personally was in contact with his doctors and he received pretty good care. In 2006, the frequency of his crisis increased. He was in a coma several times, and during the last episode he passed away. Egor lived only 4 years.
In 2005, in Siberia, another boy, Nikita, was diagnosed with MSUD when he was almost 6 months old. He spent 6 months in a hospital, 1 month in a coma and on a ventilator. Formula was immediately delivered to him from Moscow by plane. He likely has a milder form of MSUD with Leu tolerance of 700mg/day. That is why he was able to survive such a late diagnosis. He is very lucky with his parents - his mom is a doctor and has knowledge of German. She is able to communicate with German doctors through email.
The reality is that children with rare genetic disorders in Russia will remain at a disadvantage, far behind other countries, for awhile. Diagnosis is only possible in the few largest cities where lab equipment is up to the standard. Long-term care that includes amino acid tests and follow-up with specialists is practically not available anywhere but Moscow. Even in St. Petersburg, the second largest city in Russia, BCAA was only available with combined values for Leu and Ile. A blood sample of the boy born in Siberia was delivered to Moscow by plane to figure out his BCAA levels. Fortunately, DNPG tests and keto-stix are available for purchase through the Moscow lab.
Luckily, we live not too far from Moscow, so that we are able to track Nadya’s BCAA levels. Nadya is followed by a geneticist who is familiar with metabolic disorders and a dietician who works with children with PKU. Nikita is also followed by a geneticist in his town, however, there are no highly specialized doctors there. His mom develops his diet plan and consults the German doctors for difficult questions.
Government help and protection for our children is also minimal. A law adopted in 1994 gives federal financial help to people with genetic disorders such as PKU and diabetes. However, MSUD is not one of the diseases listed and our hope of changing the law for the very few children is very, very slim.
The federal government leaves it up to the city to help out children with MSUD. The available help varies widely, depending on the city. My small town pays for about 10-12 cans of formula a year. Nikita is getting all of his supply paid for by his city. I rely on charitable funds. It is a real life savior for Nadya. Another problem with the city help is that they are only allowed to buy formula produced by SHS, since only that formula is approved for sale in Russia (that approval took me a lot of work in the first year of Nadya’s life). However, now Nadya is doing better on Ketonex, the city is not able to purchase it for me.
The fact that the MSUD formula is available for sale in Russia is a big step forward. In 2001, it took me 4 priceless weeks to get the formula from the UK. By comparison, both Egor and Nikita had the formula available to them within days. Other small changes have taken place over the last 6 years. More information about MSUD is available. Nadya’s case is described on the internet. We are known by doctors, dieticians as well as the SHS employees in Russia. I was able to offer help with information (a lot of it from the egroup and MSUD website) to Egor’s doctors and Nikita’s mother. My mother and I have translated many articles on treatment of MSUD from English to Russian. Our hope is to one day creating a website with these articles and other information on MSUD in Russian.
In conclusion, I would like to express my most sincere thanks for all the help and support to all members of the e-group. A special thank you to Joyce Brubacher who did so much for us in the most difficult first years of Nadya’s life.