RJ's Treatment Journal

April 1998: Ruben Jr. was 3 months old when I asked his pediatrician why he startled so easily for every little noise. The response was that RJ had good hearing.

July 1998: I asked the pediatrician why RJ was not rolling over and trying to crawl like other babies his age. The doctor's response was that only 70% of all babies mature according to the guidelines.

October 1998: At 9 months of age I asked again, why was RJ so behind in hitting the normal childhood milestones? RJ was still trying to master rolling over and getting into a crawling position. He could not sit by himself without support for very long.

November 1998: Life began to look good for Ruben and I. We had just purchase our new home and Ruben was on the verge of getting a promotion. One night we happened to be watching a story on 20/20 about a little girl who beat the odds against autism. The television program lead me to believe that RJ might have been autistic as he showed similar symptoms to the little girl. RJ loved to stare off in the distance and stare at bright lights. RJ still had sensitivity with sharp noises. I began to ask my family questions and they all told me they thought something was wrong but were afraid to tell me.

December 1998: My aunt Lucille, who works at Children's Hospital in Los Angeles, asked Dr. Chen, a neurological specialist, if she would take a look at RJ.

January 4, 1999: Our first visit to Dr. Chen. After a thorough evaluation, she definitely saw that RJ was behind and she wanted to start a series of tests. We had no idea what she was testing for. We became upset and frustrated as we felt we were 6 months behind in treating RJ because our pediatrician never alerted us that something might be wrong. We then drove directly to our pediatrician's office and spoke with RJ's doctor. He then agreed that RJ should be tested because he might have a mild case of Cerebral Palsy.

RJ's first test was a blood test done at the pediatrician's lab. It was done wrong. We then demanded that all tests be done at Children's Hospital. We took him in for an EEG to see if he was having seizures. The test came back abnormal because he had one seizure. The next test was a MRI which came back normal. We were relieved at this point but Dr. Chen warned us that we were not "out of the woods" yet. We then took RJ to a neuroptomologist who dilated his eyes and found "cherry red spots" on his eyes. Since we did not know what Dr. Chen was looking for we did not know at this point the RJ had Tay-Sachs Disease (TSD). The neuroptomologist just told us that RJ had a metabolic disorder. We did some research on metabolic disorders and found that there were thousands. At this point I switched RJ to a vegetarian diet to see if this would help his condition. It was not until RJ's blood work came back that Dr. Chen confirmed what she was looking for.

January 27, 1999 was the worst day of our lives. Ruben Jr., our first born son now 1 year old, was diagnosed with Tay-Sachs Disease. This was definitely the saddest day of our lives. Ruben and I could not believe what was being told to us. As Dr. Chen delivered the bad news I asked the unbearable question. How much time do we have left with RJ? Her response was like a knife through my heart, she said, "maybe 2 or 3 years at most". Dr. Chen told us RJ will slowly deteriorate and eventually the angels of heaven would come for him. With all the advances in the world and modern technology I found it very hard to believe that there was no hope for a cure or treatment.

January 28, 1999: We called all over the world trying to learn more about Tay-Sachs Disease. We called as far away as Israel only to find that everyone in Israel gets tested for Tay-Sachs Disease before they have children. In the United States, only people of Jewish ancestry are actively screened for the deadly disease. However, 1 in 250 Americans carry this deadly gene. Amazingly, Israel referred us back to San Diego, California where a local doctor was researching the TSD. We also contacted The National Tay-Sachs and Allied Diseases. They were sad to get the call but recommended that we attend a conference in New York in April.

January 29, 1999: Tina, a friend and co-worker, sent me an email with hope. Tina found an article about a little Japanese boy with Tay-Sachs Disease seemed to improve with the help of a chiropractor named Vicki Arcadi. She introduced nutritional supplements to his diet and his quality of life improved tremendously. Unfortunately, Tay-Sachs Disease took the little boys life anyway. It took us about 48 hrs to locate the company that made the supplements and placed an order right away.

February 2, 1999: we began RJ on a special dietary program that was recommended by Dr. Arcadi for the little Japanese boy. We also were referred to a homeopathic doctor by our friends the Litvaks. Mr. & Mrs. Litvak were both teachers of ours at Garfield High School in East Los Angeles. Ruben took RJ to see Wendy Hewlett, a homeopathic clinician. She video taped RJ and asked a bunch of questions. Ms. Hewlett then sent the tape to her friend and colleague in Canada who is a very well known homeopathic clinician. He prescribed some Zinc tablets for RJ which helped to control the rolling of his eyes.

Feb-March 1999: During the time that RJ was on his supplements and cranial therapy, I was still a mess having to leave him with a sitter. I needed to work in order to support the new costly expenses that we were incurring, as our insurance does not cover alternative treatments. RJ had a series of events that required us to take him to emergency room and everytime we went we had to explain Tay-Sachs Disease to the doctors at hand. This was hard on us staying in the hospital until 1 or 2 in the morning and having to get up and go to work and take him to the sitter again. Eventually, after having been to the ER for pink eye and an episode of hives I told Ruben that I can no longer work and that I must resign from my job. He was worried that we would not be able to maintain the quality of life for RJ and so I promised to work through the month of April.

I started to contact all local agencies for help and wrote a letter to all our family and friends asking for help with RJ. Although we were denied by C.C.S, SSI and Medi-Cal the ELA Regional Center came through for us. They will provide an in-home educator for RJ. The response from our family and friends was overwhelming. We received so much support from everyone and are very thankful for their generosity.

April 99 - RJ had his first plane ride. We all flew from Los Angeles to New York on the "redeye" to attend the National Tay-Sachs Conference. I thought for sure RJ would sleep the entire flight in my arms, but RJ is a social butterfly and so he just slept in small doses. He wanted to know where we were going. RJ's baby-sitter flew to New York with us to help out and this was her first plane trip as well. At the conference we met lots of wonderful people who are also suffering with Tay-Sachs Disease. However, the conference did not provide any new information just a bunch of doctors contradicting each other. The best part of the whole ordeal was talking to other parents and learning how they cope with the whole situation. RJ has new friends now and you can read about each on RJ's website site.

May 99 - We had our first family vacation which included 25 relatives. We called it our family reunion cruise. RJ seemed to enjoy the sea air and smooth sailing of the cruise ship. Ruben and I both enjoyed ourselves. It was kind of a pick me up after being at the conference. RJ seems to be doing well on the products and his adjustments.

June/July 99 - I am getting used to being at home with RJ. We have asked RJ's pediatrician to get RJ on hospice. We do not want to take RJ back to the emergency room. The parents that we met at the conference suggested we get an early start with hospice so that RJ may bond with his nurses and have a relationship. In researching we found that our insurance only pays for 100 days of hospice care and consider RJ too healthy to start him on hospice care this early. I demanded that he begin care immediately as most Tay-Sachs babies exhibit severe symptoms at 18 months and we wanted to be prepared for this situation. After much fighting and letter writing RJ was approved for hospice care. However, hospice does not provide nursing hours on a daily basis so the ELA Regional Center is trying to help out by getting us nursing hours on a daily basis and this way we can save our days with hospice. The ELA Regional Center also will provide RJ with a weekly visit from a physical therapist.

August 99 - Dr. Vicky introduced us, via email, to Phyliss Libby, a clinician for brain injured children. We bought her a plane ticket to come see RJ and she and Dr. Vicky made a weekend of it. Phyliss brought with her much knowledge and support. We had RJ on an incline plane (slide) which dad built. We placed the incline in our living room and RJ had his first experience going done a slide. We also learned about masking and cross patterning. Needless to say RJ did so much work that he was nearly exhausted by the end of the weekend. Again, no promises were made just trying to keep RJ has comfortable as possible. Patterning is motion which will help RJ have more regular bowl movements. Masking is done for his diaphragm. RJ has shallow breathing and by masking this will increase his use for deep breathing. RJ's nurse and in home educator have begun to help me with the patterning.

September 99 - After all that we did for RJ in August I don't know if it was too much. RJ is now 19 months old and showing increased signs of Tay-Sachs Disease. RJ had his first real scary seizure this month. Doctor's call them Apnea seizures. This means that, during a seizure, he does not breathe and his lips turn blue. RJ's nurse, Kim suggested we get an apnea monitor for night. He had one in the pediatrician's office and he suggested we try and see Dr. Chen. Dr. Chen suggested we bring him back for a sleep study. The first available appointment is not till the end of October. So we called our homeopathic doctor Wendy and we come to find that they have medication for his type of seizure. I took RJ to see her and got the prescription. The apnea seizures stopped but then a new type of seizure began. Now it is mostly facial left lip and eye twitching from 5 - 10 seconds each.