Case History: Maximus Manciu

USA

Our first child, Maximus Charles, was born on March 2, 2003 at home, after a normal pregnancy and delivery. He was 7 pounds, 5 ounces and 21 inches long. Maximus seemed very healthy at birth, however, he cried inconsolably the first week and was very difficult to nurse. Maximus was circumcised at eight days old in the hospital and hemorrhaged from the surgery site. He was immediately transferred to a larger hospital where he went into shock later that day and needed blood transfusions. After many blood tests, the only abnormality doctors could find was low vitamin K levels. They decided the probable diagnosis was hemorrhagic disease of a newborn. Maximus recovered slowly and would not nurse at all after the ordeal. I pumped breast milk for him and fed him with a bottle. We supplemented with formula for a couple days, but from then on he only took breast milk. Maximus had an uneventful hernia repair surgery at two months old, and we thought that the worse was behind us. The only difficulty that remained was Maximus’ trouble falling asleep, and staying asleep. We drove him around in the car every night to help him calm down! The inconsolable crying slowly got better and Maximus seemed to be a healthy baby for a few months. When Max was about six or seven months old, we noticed that his eyes did not seem to be focusing on us any more. He would also drop a toy that he had been playing with and cry because he could not find it. Around this same time, we also noticed a lot of unexplained bruising and little red dots on his skin. Maximus was immediately referred to an eye doctor and a hematologist. We first received the news that Max was blind and we were told that it was from birth, even though we knew that he used to look right at us and smile. Maximus’ blood work showed low vitamin K levels again, as well as elevated liver enzymes. After a trip to a GI doctor and more blood work, we finally received Maximus’ diagnosis of a Peroxisomal disorder the day before he turned one year old. They told us there was no cure and that it would be fatal probably before he turned three or four. We were devastated and it was so difficult to celebrate his first birthday. We immediately started looking on the Internet for more information. That is when we found Dra. Martinez. Most of the information from other sites was very depressing, but hers was full of hope, and we wrote to her immediately. We sent a blood sample per her request. Dra. Martinez did an initial analysis and asked us to come to Spain as soon as possible. We did not have the money for the trip, so we began planning benefits and had garage sales.

Around the time Maximus turned one, I had become pregnant again. Maximus was still drinking pumped breast milk from a bottle, but would not touch solid food. My milk began drying up and I panicked! Max was doing so well and was very chubby at one year old despite the disorder. We tried formula and cows milk, but Maximus would not accept either. Finally, some friends and our midwife suggested that we try raw goat milk. Maximus loved it and he continued to thrive! To this day he still drinks only raw goat milk and water. We have given Maximus pasteurized milk a few times when we could not get raw milk, but pasteurized milk gives him diarrhea.

We finally made enough money for our first trip to Spain in July of 2004. Maximus was about sixteen months old. At this time, he was not eating any solid foods. He was not crawling or scooting, and he could not see well. His liver enzymes were in the 700’s and he was very hypotonic. He did not sleep well at all and woke screaming many times during the night. It was a long plane trip, but Maximus did well, probably even better than us! Dra. Martinez was wonderful, kind and very knowledgeable, and the trip went well despite the stress of all the medical tests. Maximus was a different baby when we came home from Spain. After about a month of DHA-EE oil, he was scooting across the floor after toys, he began eating 5-6 jars of baby food every day, his liver enzymes went down and he began focusing on our faces again! He finally slept at night with no screaming episodes! Since that first trip, we have been back to Spain four times so far. We will take our fifth trip this May 2008. Maximus turned five years old this March 2008! He has continued to improve dramatically. He started walking in February of 2006 and now chases his little sister all over the house! He also recently began climbing, running and jumping. Maximus wears braces under his shoes to support his ankles and feet because he stands on the insides of his feet without them. Maximus’ eyesight continues to improve and he does not wear glasses. He has no trouble navigating around the house but he will trip over things left on the floor if he is not directly looking down. We thought that his hearing was normal, because he passed the newborn screen, but a recent test revealed severe hearing loss. So… our current challenge is hearing aids! He resists them with all his might! He smiles when we finally get them in, and it is fun to sing and talk to him and watch his reaction. When Maximus’ teeth came in we did have some trouble with bleeding especially with the molars. He developed big pockets of blood in the gum tissue above the molar as it was coming in. This was not serious, but it was a little scary because he would bite down on his finger and burst the blister. It bled quite a bit and scared us so much that we took him to the ER. Of course, by the time we got there, it had stopped bleeding! We started taking Maximus to a dentist between age two and three because his teeth had some black stain on them. The stain came right off with a regular tooth cleaning and now he gets his teeth cleaned every six months. His teeth are beautiful and white with no cavities yet. Maximus did have two seizures, for the first time, in March and May of 2006. We decided not to medicate him after an allergic reaction to two medications, and instead, Max sleeps on a magnetic mattress and we give him 400IU daily of vitamin E. Although his EEGs still show some abnormal activity, he has been seizure free so far. Maximus’ liver enzymes remain normal to slightly elevated and he is on a daily mega dose of vitamin K as well as a multivitamin. He still eats pureed food and does not feed himself yet. He drinks from a bottle, but we have tried the cup with no success as of yet. At times he is very difficult to feed and it is hard to keep weight on him because he is always moving! Maximus is also cognitively behind for his age, but continues to show improvement in his understanding and emotions. He now gets upset when his three-year-old sister won’t play with him and battles over toys with his little 11-month-old brother. In the past he seemed to be in his own little world and did not pay much attention to other children, so it is wonderful to see him interact! Maximus is also a first class mischief maker! He knows that he will get a reaction from adults if he pulls items off tables, so he laughs and throws things on the floor before we can get to him. He will start laughing as soon as he sees a cup or a plate on the table, contemplating what he is about to do! Max has had quite a few hospital visits over the past few years. When he gets a fever, it will keep climbing unless we give him Motrin right away. He has had two fevers that reached at least 107F. He had one mild case of aspiration pneumonia, due to swallowing issues. We will be meeting with an endocrinologist soon to discuss testing of his adrenal glands. Maximus has also been through many other tests here at home besides the ones in Spain. These include, blood tests, EEGs, sleep studies, swallow studies, hearing tests with sedation, eye exams, chest X-rays, urinary tract and bladder X-ray, MRI, and a CT scan. It is so hard when any testing is done, but we try to make sure that he does not go through anything unnecessary. Maximus has also had quite a bit of therapy. He has been to physical therapy, but he is currently discharged at the moment. He has also been to feeding therapy, occupational therapy, and will soon be starting up speech therapy. We intend to home school him as well as continue to take him to various therapy sessions as needed.

We are so happy with Maximus’ continuing improvement. He is a joy to all who meet him! We will continue to travel to Spain, despite the difficulty, because we believe that Dra. Martinez’s treatment is giving Maximus a better quality of life that he would otherwise not have. We do not take one day for granted and we are so grateful for her and the Manuela Martinez Foundation. These children would have little hope without the hard work, sacrifice and dedication of Dra. Martinez.