There is a heart-warming story regarding the desire of one family to attend the National Coalition Conference, and the wonderful way the funds were provided. It all began in Florida earlier this year. Lou Ann Justus works for the Scholastic Book Fairs. Twice a year the employees have a book and gift fair. The proceeds from the "extravaganza" are donated to a worthy charity. Lou Ann submitted a proposal asking that the funds from the current fair be given to MSUD. Following is the letter Lou Ann wrote to the employees where she works explaining her family's involvement with MSUD.
Lou Ann's Letter
A cure - how wonderful that would be - is probably a pretty lofty hope at this time. In our day-to-day life we hope to make sound decisions regarding the feeding and care of our daughter. We hope that we will recognize signs of distress. We hope that we can continue to learn more to help us as she grows. We cannot lose sight of the sobering reality that without proper education and excellent management our daughter Katie could lose her battle to maple syrup urine disease at any time . . . with very little notice.
Many of you know Katie, as you have been very supportive in her first two years. She is just one of this small group of spercial children afflicted with this disease. Most stories of the first months of these children's lives are very much like Katie's. They were born perfectly healthy babies and went home with very happy parents. Within a few days, they stopped eating, became lethargic, and in most cases began to have extreme difficulty breathing. Their brain is affected and progressively attacks each of their functions. Most are in intensive care within the first week, dependent on machines to help them stay alive. The long term effects in each case vary dependening on the number of days required for diagnosis. If the children were treated immediately, they would begin to recover and thrive on their own within a short period of time. If diagnosis took longer they would continually worsen as each of their bodily functions were attacked. Extreme brain swelling would usually result in permanent brain damage. Most times if diagnosis took longer than 12 to 15 days, the babies would die.
We were one of the fortunate families. A miracle occurred. It is possible that Katie has a variant form of this disease.
Although Katie was finally diagnosed at 28 days, was completely dependent on machines to keep her alive, and suffered extreme brain swelling, she appears to have suffered no permanent damage. We are also extremely fortunate because most of the children afflicted with classic MSUD are regularly hospitalized for episodes where their diet (protein levels) are out of control. Every normal childhood illness (even a cold) can throw the protein levels into a potentially deadly fluctuation. With each episode, there is an extreme risk of additional brain damage. Again, we have been blessed; Katie has not been in the hospital since she was released at 2, months old.
Maintenance is not easy. Continual education is vital. When Katie was diagnosed, we were devastated to hear that there were no adults with this disease. That evening we learned through the MSUD Family Support Group on the Internet that, YES indeed, there were in fact adults with this disease. A 22 year old was recently married and just announced that she was pregnant. We began to have hope. We are continually in touch with the Support Group as they provide a variety of helpful resources, family stories, helpful diets and tested ways to help children like Katie as they move through each developmental stage. The MSUD Support Group is a nonprofit organization serving many families like ours throughout the world.
Many of the families find difficulty contacting qualified labs and physicians to help in the care of these children. The Clinic for Special Children has been a great source for many families around the world. The Clinic is dedicated to the care of children afflicted with metabolic disorders and serves as a state of the art research facility in finding a cure for these children.
Please help us support these two organizations, so that they can continue to help families like ours around the world.
Thank you from Katie's family,
Lou Ann and Rick Justus,
Christopher and Michael
We applaud the efforts of one of our "family" members, Lou Ann Justus, and the generosity of the employees in the corporate office of Scholastic Book Fairs who raised $5,415 and divided the proceeds between the Clinic for Special Children and the MSUD Family Support Group. We thank you on behalf of all the families in our Support Group.
When Lou Ann called about the donation to our organization, she asked if there was anything in particular it would be used for. Yes; the Ali Akhlaghi family wanted to attend the National Coalition for PKU and Allied Disorders Conference in Ohio. They had asked if the MSUD Family Support Group would have some funds to help them pay travel and conference costs. The Support Group had no funds designated to help families attend this conference as it does for our MSUD Symposiums. The Lord was answering prayers to somehow provide the means for this family to attend possibly the only informative conference they would have the opportunity to attend while in the States.
Lou Ann thought that using some of the money for this purpose would be fine. Ali was notified. What a blessing that money was to one family and the remainder will help others.
The Family From Iran
The above photo pictures Simin Nejabati, holding son Ashkan (MSUD) and Jaime Hamilton, (MSUD) with daughter Hailey (non-MSUD), at the conference. Jaime is 23 and Ashkan is 10 months old.
Let me tell you a little about this interesting family from Iran. Mohammad Ali Aklaghi (a computer programer) and his wife Dr. Simin Nejabati (an anesthesiologist) were living quite comfortably in Iran. Their son, Ashkan was born on July 20, 2000 and soon became very sick. On Sept. 1, I received a fax from them asking about the Total Parenteral Nutrition IV solution which Ali read about on our web site. He also contacted Dr. Holmes Morton at the same time. Ashkan had been diagnosed at about 4 weeks of age. He had been hospitalized for 14 days and repeatedly dialyzed. They knew their child was being mismanaged as he was not improving and had severe diarrhea. Since MSUD is not well known in Iran, all the children who do survive are severely damaged.
Ali and Simin were desperate to get good care for their son. So desperate in fact, when their doctor would not follow Dr. Morton's instructions, they sold their possessions and left their careers in Iran to come to the U.S. with their son. They persevered through a great deal of legal
technicalities to get visas. In the meantime, Dr. Morton was able to get amino acids to them via individuals willing to help. They made their own formula for Ashkan and followed instructions from Dr. Morton via fax and e-mail. In November 2000, they arrived in Maryland and soon moved to Lancaster, Pennsylvania to be near Dr. Morton's Clinic.
According to Dr. Morton, Ashkan has done remarkably well. He expects Ashkan will meet the normal milestones in development and his speech and intellectual function will be good. Ali and Simin are eager to meet other families and to learn all they can about MSUD. Following is the thank you note Ali wrote to Lou Ann.
Dear Lou Ann Justus:
I would like to express my deep appreciation for the donation you and the employees made to MSUD Family Support Group. Your donation made it possible for me and my family along with our only son with MSUD, to attend the Metabolic Conference held in Dublin, Ohio May 4-5, 2001.
We learned a lot about MSUD and met families with the same concern. I would particularly mention a lady with classic MSUD who had gone through pregnancy and has a perfectly healthy baby girl. I was impressed and encouraged as well to see how well these patients can do provided the disease can be well controlled and managed.
We gained knowledge of (1) MSUD: the disease, its management, relevant current studies (2) the diet including the available products (3) prevalence of ADHD in metabolic disorders (4) federal legislation for metabolic formulas and (5) the Scott C. Foster Metabolic Research Fund.
We came from Iran on Dec. 10, 2000 to save our 9-month-old son with MSUD. With the great help of Dr. Morton from the Clinic for Special Children and the MSUD Support Family Group, we have our son in normal condition and development. Otherwise he would have become profoundly mentally retarded and physically disabled.
If the donations were not made, organizations such as the MSUD Family Support Group and the Clinic for Special Children could not exist. I would like to thank you again and wish you and your families the best. I would also like to thank the MSUD Family Support Group for the help and support they have provided for us. And special thanks to Dr. Morton for his great help since we left Iran, without which Ashkan would certainly not have survived. May the grace of God be with you all.