Jimena, left, with brother, Agustin.
I wanted to share Jimena's story with the group. Although she is now cured after liver transplant done last July, I don´t forget all the sufferings and problems we experienced during more than 2 years.
As many of you know, we live in Buenos Aires, Argentina. Jimena was born on February 10th, 2004. She was a healthy newborn during the first 2 or 3 days, but after that she started to sleep all day and didn't want to be fed. We went almost every day to the emergency and were told all was OK, that the problem was my wife's anxiety to feed Jimena (she was told once to go to the psychologist). By day 6 or 7 she started to arch her back and put stiff. Her eyes were closed all day. We told Doctors that but they continued saying the same. By day 10, in one of our desperate visits to the emergency, she had an attack in front of the Doctors (now I thank God of that) and they realized for the first time that something was wrong with Jimena. She was admitted immediately and Doctors started to do all kind of exams to know what was going on with her.
There were two hypotheses, something neurological or something metabolic could be affecting her. Electroencephalograms, MRI's, blood tests, etc, were done. The only thing we knew was that when she was fed problems appeared again so she was not allowed to be fed for more than one day.
By day 14, we heard for the first time the word that would change our lives forever, MSUD (jarabe de arce in Spanish). Dr Amely Cayssials, a Metabolism doctor confirmed to us that the problem was with the Leucine, Isoleucine and Valine amino acids that were intoxicating her brain.
That same night all her blood was removed and changed and the next day she started to be fed with a special formula. We didn´t know anything about this disease so we went to the Internet and started to search for info about it. The first page we saw was the group one, with an introduction to the disease and all the symptoms of it. On that moment we had 2 different feelings: by one side we felt relieved that we finally knew what our daughter had but on the other side we felt overwhelmed because the disease was very difficult to manage and it had no cure. She was almost one month in hospital. While we were there we started to learn how to prepare formula, give her all the medicines she needed at different times, test ketones in urine, etc.
In Argentina there is only one laboratory where the newborn screening is done and the test detects more than 20 metabolic disorders, MSUD among them. But as it is not mandatory, it is not done to every newborn. By that time we didn't know that this test existed. It could have saved us lots of hours of uncertainty and anguish. Besides, we had to wait more than 15 days for the amino acids results to make the appropriate adjustments. Jimena was doing well until she was 4 months old. It was Winter here and she got a bronchiolitis that complicated so she had to be hospitalized. After she was one week with ventilator and recovering well she had an urinary infection and the worst occurred.
She had a convulsion and, as we suspected, leucine was in the clouds (1500).
Doctors didn't know what to do. They had no experience with managing a metabolic crisis, so they wanted to make her an hemodialysis but they were not sure it would work. I was desperate and didn't know what to do so I contacted the group. Joyce and Kay calmed me and gave Dr Morton' number. I phone him but he was not available. But I could talk with Dr Strauss. I will always remember his words: The Leucine value is not so high. We can lower it in 2 days. So he emailed me the treatment to follow but he was wrong. She returned to normal leucine values in only one day, not two.
After that episode Jimena was hospitalized again only 2 days after being discharged, this time because of a rotavirus. She was 6 weeks in hospital, constant diarrhea and vomits made it difficult to stabilize amino acids this time and she started with problems with sodium balance.
By that time I was invited by the group to the Atlanta Symposium. It opened my mind to see how MSUD people lived in the States, with practically normal lives. That was not what I had been told in my country. And I didn't want my daughter to live between hospital and home for the rest of her life.
After 2 months in hospital, Jimena was at home again. She started to recover slowly and received motor and visual stimulation.
Although she was more than one year outside hospital this time, we lived in continuous stress because we knew that every single cold, fever, etc could descompensate her.
She met every learning stage later than her brother Agustin (non MSUD), 11 months older than her but we didn´t care. We only wanted her to be healthy and growing. She started walking when she was 16 months, everything was going well on her second Winter but... she was hospitalized again. This time for 10 days.
That was when we realized that we would never be safe with this disease. That she would be in constant risk. By October 2005, I was on a business trip to the States and I had the chance to go to Pennsylvania to visit Drs Morton and Strauss. I only wanted to thank them all they had done for Jimena one year ago but I was able to talk for more than an hour with Dr Strauss. Besides confirming he was a marvelous person, we talked about the option of transplanting her. He told me that if I had the chance of doing it, to do it no doubt because this disease is a complete mistery for adults (the consequences of a restricted diet during years are still unknown).
He recommended me to contact Dr Mazariegos at Pittsburgh and gave me a draft of a paper with the results of the first transplanted children done between Pittsurgh and the Clinic for Special Children. I had a very big dilemma by that time. The cost of transplanting Jimena in the States (more than USD 300000) was impossible for me to pay and in my country there were no previous experience with transplanting this kind of children.
That was when my Metabolism Doctor put me in contact with Dr Dagostino from Hospital Italiano of Buenos Aires (they both work there) and from the beginning he showed interest in transplanting Jimena using the Pittsburgh protocol.
The process was long and hard. As there was no previous experience with a MSUD child being transplanted in Argentina, we need to get an exception for her in order to be included in the waiting list. We asked for documentation to Drs Mazariegos and Reyes and with all this we finally got a 23 score to wait for the transplant (the scoring system is similar as in the States). Besides that I wanted to be sure that the kind of transplant done in Argentina (reduced liver technique) wouldn't have more risks than the whole liver one used in the States. I had the chance to contact Dr Mazariegos at the Ohio Symposium and he confirmed that.
Finally, on July 5 and only 3 weeks after the exception was accepted, Jimena was transplanted.
During all that time we continued with amino acids checkups every 2 or 3 months. Although our health insurance covered these tests and the formula, we had a lot of problems with authorization of medicines. We were advised by a father of another girl with MSUD to get the handicapped certificate. With this document health insurance companies are obliged by law to cover everything related with the disease.
In Argentina there are no statistics about people with MSUD. We only know a few cases (personally only one, a 6 year old girl called Luz) but we know that there must be more. If the newborn screening were mandatory much more cases would be detected and more lives could be saved. We are fighting now for a law to be approved to make this test mandatory for every newborn. But our representatives are still not aware of this situation and it will be a long fight.
We only have one brand of low-pro food here, SHS. It brings MSUD Analog and Maxamaid formulas and some low-pro foods like pasta and cereals. Jimena started eating pasta when she turned 2 (last February) and she liked it very much (up to that moment she followed a diet only of fruits and vegetables).
And, as there is only one laboratory that imports formula in Argentina, sometimes we have some shortage problems (I remember this year in January that the laboratory didn't have stock of MSUD Analog so we were forced to shift to Maxamaid because of this). To make things worse, in March the only amino acids analyzer broke down so we couldn´t get amino acids for more than 4 months.
Fortunately the machine was repaired some weeks before Jimena was transplanted in July so amino acids could be checked during all the transplant process.
Now Jimena is almost 5 months after transplant and recovering well. Her story had a happy end but we don't forget that many children are suffering and dying from this disease all around the world, many of them without the chance of at least being diagnosed.
Although we are not in the States, we are very thankful because we are better than many other countries.
I hope some day no more children suffer from this disease and can live normal lives.
To finish, Thank God because we were blessed to have found this group of wonderful people.
God bless you!