And my right vision came back (Final part of Miracles still Happen)

Dr. Carlos Wong, who saved me from blindness in January, examined my operated right eye on May 4th and said, “Julio, you are ready for the intraocular lens implant. Your retina is completely reattached. Go to the information desk and find out on the cost of the surgical operation, and date for it.”

Taking into account the scheduled tasks I had do for CASP in May and June, and my personal needs, we scheduled the operation for June 4th. Once again Dr. Mayo gave her approval and CASP paid for it while funds were gathered to cover this expense.

Paul and Ginger Marto, my sponsors via the project between the Kansas-based CFC and the Visitacion Church in Lima, who had helped me in many ways through the years, let us know that their contribution was on its way. This nice gesture made me feel blessed and more grateful.

Domingo, one of the young men who cared for me during the post-operation recovery period of the retina surgery, came for me early in the morning of June 4th to take me to the Sacro Coeur Eye Institute, where I was waited at 8:00 am. One hour later, I was taken to the room next to the operating room, where my blood pressure was measured, and they inserted a thin tube in my vein to administer a saline solution plus anesthetic. When the surgery of the first patient ended, I was taken to the operating room seated on a mobile operating chair.

In there, Dr. Manuel Perez Martinot said to me, “Julio, if you feel some discomfort during the intervention, please tell me.” A nurse on my left side checked my blood pressure, and another one put an oxygen tube into my nostrils. While the lens was being implanted, I thought positive by evoking the words of encouragement I had received from friends. Clear into my mind came words such as “You are in the prayers of many more folks than you know”, “You are in my prayers this day”, “We are praying for you and will be sending positive, healing energy to you.” “Our prayers are with you always, and we will be praying especially for a successful surgery on Monday. God bless you, your surgeons and the whole Ann Sullivan staff and community”, “You are in the best of hands. I am sure your surgery will be a success”, “You are in my prayers, Julio”, “Ya sabes van mis oraciones y energía para ti todo saldrá espectacular (You know, my prayers and energy go to you. Everything will turn out well)”, “We will be praying up here in Canada for you”, “Julio your will and determination are strong and along with the really good surgeon who will be performing surgery, you will do great”, “You are in my prayers. I hope, God willing, you will gain as much of your sight back as possible”, “Todo va salir bien don julio, estaremos orando (Everything will turn out well, Mr. Julio, we will be praying for you)”, “I wish you a successful procedure, improved sight and a quick recovery tomorrow”….

I was still immersed in my thoughts when I heard Dr. Martinot saying, “It is over.” Then they put a bandage on my right eye, and I was taken back to the waiting room where I was given a pill for pain and rested for a while. There I realized that I could look with the operated eye and that shapes were more clearly defined, and I felt really great!

At one o’clock I was at home encouraging my 79-year-old brother Miguel to stand and walk around the room. The next day, Mother’s Day, he had been operated on the left knee and could still not move his left leg when he was discharged from the hospital two weeks later because his left leg was very swollen and he experienced great pain. The previous week of my operation I called Martin Avilez, the physical therapist of CASP, who keeps me functional in spite of the severity of my spinal muscular atrophy, and asked him to help my brother Miguel fight back his depression so he can beat his fear and walk again.

One week later, Dr. Mariella Navarro said that my right eye had no infection or inflammation, that the IOL was firmly in place, and that I could get back to work on June 19th.

Miguel was taken to his home (on a fourth-floor apartment) to celebrate Father’s Day with his children. By then he was more independent and able to go around my neighborhood by pushing his walker. One day before, knowing that I had no caregiver service during the night on weekends, he woke at 3:00 pm and entered my room to ask me if I needed help. His nice gesture moved me to tears because not only did I need help, but because I remembered how this generous man went across the city of Lima at night in 2006 to help his younger brother get into the bed and get me ready at six o’clock the next morning to go to work. My sister Rosa then could not help me physically any more, and he and Cesar, my second older brother, took turns to help me get into and out of the bed until a caregiver was found. Now I live on my own but all of them including my deceased mother Julia made up a formidable team that helped me live beyond expected. Now my will power, and CASP, is the driving force to get ahead.

On June 19th, I was back at my job. Staff of the training area where I work, who had followed all the process of my two operations, welcomed me and asked me if I could see them. Yes, I could. Seated at my Mac I could see them on the right side; and from a standing position, when Martin helped me up to release the pressure from my buttocks, I could look out in all directions.

God had made it possible that I regained much of the vision I had lost, when the retina was detached, and that light prevailed over dark, thanks to the request of many people who prayed for my health. Thanks from the heart.

My gratitude is extensive to Dr. Liliana Mayo and the Centro Ann Sullivan; Dr. Manuel Pérez Martinot and Dr. Carlos Wong who made the miracle, the staff at the Sacro Cuore Clinic that was very nice to me; Dr. Linda Lawrence whose help was crucial, Ana Mayo who helped his Peruvian friend from Spain, the Watson family who knows what it is like dealing with SMA, Paul and Ginger Marto, and the unknown donor who helped to save my retina.

Thanks also go to my brothers for being with me on this long struggle, Daniel and Domingo who took care of me, and friends who sent me their best wishes.

New Paper Published on Spinal Muscular Atrophy Clinical Trial.

May 13, 2009.

Project Cure SMA Group Publishes Open Label Valproic Acid Trial Results.  The paper entitled “Phase II Open Label Study of Valproic Acid (VPA) in Spinal Muscular Atrophy” was published today in the online Journal PLoS ONE.  This clinical trial was fully funded by Families of SMA.

The paper presents the data from an open label trial of VPA in 42 subjects with SMA to assess safety and explore potential outcome measures to help guide design of future clinical trials.  The results indicated that VPA was well-tolerated and without evident hepatotoxicity.  Carnitine depletion was frequent, and temporarily associated with increased weakness in two subjects, indicating a need for co-administration of carnitine with VPA. Clear decline in motor function occurred in several subjects in association with weight gain.  Mean fat mass increased without a corresponding increase in lean mass, suggesting that weight gain is likely to be significant confounding factor in future VPA clinical trials.   A significant improvement in motor function, as measured by the Modified Hammersmith Functional Motor Scale (MHFMS), was observed in participants younger than 5 years of age.

The authors concluded that the study provides good evidence that VPA can be used safely in SMA subjects over 2 years of age in the setting of close monitoring of carnitine status.  However, they also indicated that further studies of VPA in infants and young children are needed to better assess safety in this more vulnerable cohort, since children under 2 were not included in the current study.

The results presented within the PLoS ONE publication suggest that while there may be a potential treatment benefit in a subset of younger non-ambulatory type II children, conversely, older subjects may be at risk due to excessive weight gain. Given the uncontrolled nature of the study, it is unclear whether the improvement in some younger subjects reflects a therapeutic drug effect, maturation, or increased cooperation leading to improved functional measurement scores.  These data underline the importance of randomized, controlled efficacy studies to assess the impact of therapies in SMA, and that the same drug could have differing results in select subsets of patients.

“These results are significant not only because they are a first step to determining the therapeutic benefit of VPA for SMA, but also because they inform us about proper clinical trial design.  These results demonstrate the need for randomized controlled trials in subsets of patients, since much weaker (Type I) and much stronger (Type III) patients may respond quite differently to the same intervention. In addition, the clinical outcome measures used to examine patients over such a wide range of strength and function will differ.  Using the correct measure for each population will be critical to prove efficacy”, says Dr. Kathryn Swoboda, lead author on this paper.

The data presented in the paper indicates that several additional clinical studies are warranted in order to assess the efficacy of VPA for SMA.  These studies, funded by Families of SMA, include:

1) A double-blind placebo controlled trial of VPA and carnitine in a non-ambulatory group of Type II children.

Click here to see preliminary results of a trial in this group called CARNIVAL.

2) An open label safety study in Type I infants, an extremely vulnerable group of patients.

Click here for details of an ongoing trial in this group called CARNIVAL TYPE I.

3) A double-blind placebo controlled crossover study in ambulatory adults with SMA.

Click here for details of an ongoing trial in this group called VALIANT.

“Families of SMA is pleased to have the first clinical trial results published from the work of the Project Cure SMA Clinical Trial Network.  Funding clinical trial initiatives  allows our community to achieve multiple goals.  It gives us the means to develop the required outcome measures to test drugs in all SMA populations, to conduct trials to test repurposed drugs for safety and efficacy in SMA patients, and to build the necessary infrastructure, including adequate regional clinical trial site representation across the US for future new drug trials”, says Kenneth Hobby, Executive Director of Families of SMA.

The Open Label Study of Valproic Acid in Spinal Muscular Atrophy was registered at: ClinicalTrials.gov NCT00374075. http://clinicaltrials.gov/ct2/show/NCT00374075?term=NCT00374075&rank=1

About Project Cure SMA:

In 2001, Families of Spinal Muscular Atrophy established and single-handedly funded a clinical trials network called Project Cure SMA.  This network has conducted natural history studies that increase our understanding of Spinal Muscular Atrophy disease progression, built models for designing SMA clinical trials, and now runs clinical trials with existing drugs.

Families of SMA’s investment of over $6 Million to date in five multi-center clinical trials is helping to test existing drugs that may lead to a treatment for Spinal Muscular Atrophy.  In addition, as novel drugs currently being designed for SMA become available, having a fully operational clinical network with a sufficient number of sites to conduct pivotal SMA drug trials will help attract and encourage biotech and pharmaceutical companies to invest in SMA drug development.

Never taking “No” for an answer

From Access Press (Minnesota’s Disability Community Center)

May 10. 2009

Living with muscular atrophy in Peru

Interview Dr. Liliana Mayo of Peru

by Kelly Lee, Advocating Change Together

My name is Dr. Liliana Mayo, Director of the Centro Ann Sullivan del Peru (CASP), and I would like to tell you about Julio, a person with spinal muscular atrophy who has been working as part of my team since 1987 and is 60 years old.

When I met Julio, he lived in extreme poverty with his eldery mother in a 16-square-meter house made from adobe that it had not running water or toilet, and not much to eat.

In a time quite different from the present time, when his condition was diagnosed, he only was told, “Julio, I am sorry but your disease had no cure.” Even some physicians who had examined him predicted that he would not live very long. Julio understood how hard his life would be if he fought this battle on his own. That is, without means and without support from the government. So he taught himself the English language to communicate with other people like him and institutions around the world conducting research about SMA, and he learned through specialized magazines that people with severe disabilities were joining the work force in developed countries with the help of computers, and that adaptive technology was making their lives easier. For a heart that knows no bounds, he had to make connections and get additional information so he could gain access to available technology in Peru.

Julio has learned from the persistence that faith moves mountains, so he found people who helped him to get the basic things he needed to work and make a difference in his life. In time, God answered his prayers, and he could get a second- hand battery-powered wheelchair, a computer with wireless keyboard, and an Internet connection to do additional work at home to pay for his

part-time caregiver, and to help other disabled people less fortunate than him.

Julio talks about how important it is for people with disabilities to have a job and to feel needed by other people.

Julio works as our translator and is in charge of translating materials for professionals and families of people with different abilities, as well as of entering data about grades and attendance of parents at training meetings. Julio is my friend! He has turned 60 years old and is the only man with SMA in Peru who has reached this age working full time.

Julio shows us what a person with a severe disability in Peru can do while working and helping other people to fight for their rights, persist and knock on doors to get what he needs in this stage of his disease and never, never take no for an answer.