Family finds hope in treatment for rare disease

Posted on Jan 3, 2008 in Chronic Disease

Something just wasn’t right with their baby, but no doctor would believe Avon residents Tom and Melissa Young. Melissa, the mother of 19-month-old Matthew, knew her son wasn’t developing similarly to her daughters, Hannah, first grade, and Sydney, age 4. Yet, little did she know he had a terminal illness.
Matthew’s hair, which should have been silky fine, was kinky and steely colored instead. He was pale, not moving easily, and had episodes of apnea. According to his mom, at age 7 months, Matthew was taken to the Connecticut Children’s Medical Center and observed for three days. He was diagnosed with respiratory syncytial virus (RSV), a non-lethal, respiratory illness in young children, and sent home to rest and use a nebulizer as needed.
Still, at 9 months, even his pediatrician couldn’t figure out what was wrong with the baby who hadn’t shown increase in weight, growth and head size since his last appointment. The doctor figured he was developmentally delayed.
The pediatrician sent Matthew to a genetic doctor who ordered a blood test. “Matthew was so weak, he drew the blood from his leg,” instead of his arm, said Young. The test result showed that the baby had Menkes disease, a genetic disorder that strikes one in 300,000, with the victim unable to survive beyond the first decade of life. There is no history of the illness in the Young family.
According to the National Institute of Neurological Disorders and Stroke web site, “Menkes disease is caused by a defective gene that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for six to eight weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily.”
Because Matthew has never had a seizure, which is very common with the disease, his symptoms hadn’t been taken seriously enough.
“The (genetic) doctor said it was a lost cause and to call hospice,” Young said, adding that she felt “trapped in my own home. I shut down for a couple weeks. Then I decided, just because doctors said don’t try, I wanted to.” Her tone was strong, positive and determined.
No matter where she turned, the doors kept closing on her because of the extreme rarity of the disease and the lack of research available in order to treat it. She flew out to the National Institute of Health in Bethesda, Md., and contacted St. Jude’s Children’s Hospital. But for one reason or another, from “there’s nothing we can do” to not being able to treat the specific disease, “they wrote him off,” Young said, because “he already had neurological demise.”
She was incredulous. “It was devastating, horrible; it sucked me dry. There was no plan – does he need brain surgery? Heart surgery? When you’re holding your baby in your arms, don’t tell me he’s going to die of a disease you can’t do anything about.”
Since traditional medicine appeared to be failing, the Youngs went alternative. In addition to physical and occupational therapies, speech and special ed, they’ve tried Reiki, massage, naturopathic and chiropractic treatments. Matthew took multiple nutritional supplements, including vitamin B12 and copper injections, multi-vitamins and minerals.
Miraculously, his Menkes disease symptoms began to reverse. According to Young, “Now he’s smiling and laughing, he can hold up his head, he’s reaching for things, he’s alert, and brown hair is coming in. He used to be a bag of bones, but he’s starting to sit up now. I refused a G-tube (feeding tube). I still mouth feed him.”
Things have been looking positive, but it didn’t mean the baby was healed.
The holistic health organization Center IMT (Integrative Manual Therapy and Diagnostics) in Bloomfield opened a bright, bold door for Matthew. Four or five months ago, Matthew began working with Dr. Giuseppina Feingold, who administered hyperbaric chamber dives, which got his profuse sweating under control.
A board certified, New York-based pediatrician, Feingold went into alternative medicine because her daughter had cerebral palsy and found success expanding her vocabulary using hyperbaric oxygen therapy (HBOT). Owner of Valley Health and Hyperbarics in Brewster, N.Y., Feingold notes on her web site: “HBOT is a medical treatment that saturates the body with 100 percent pure oxygen under pressure. While undergoing this treatment, the cells and tissues of the body become saturated with oxygen to a far greater degree than they ever could under ambient atmospheric pressure (normal atmospheric pressure). HBOT uses a pressurized chamber that increases the atmospheric pressure two to three times over the standard atmospheric pressure, exposing the patient’s body to the pressurized oxygen. This process allows patients who are faced with diseases associated with hypoxia (little to no oxygen) to achieve oxygen levels eight to 10 times higher than they normally would.”
Feingold practices at Center IMT every two weeks, and after these past few months, she remarked about Matthew’s progress, “I never thought he’d do the things he’s doing now. When I met him, he had no head control, no eye contact, kinky hair syndrome. Now, I’m pretty amazed. He sleeps through the night, follows you when you walk across the room, and smiles. He’s definitely changing.” Still, optimal health isn’t a sure thing, and when Matthew’s mom brought up stem cell therapy she’d researched through Duke University, Feingold knew just the place for Matthew.
She’s taken her own daughter to Mexico for stem cell treatments (three so far), and has invited the Youngs to accompany her on her next visit, Jan. 10, 2009. Regarding her cerebral palsy-afflicted daughter, Feingold noted, “I’m seeing a lot more speech and cognition. Maybe this can also work for Matthew.”
Stem cell treatments are currently illegal in the states, thus the need to travel to Mexico. Feingold explained that “stem cells differentiate into any other cells in the body. With neurological damage, they get transported across the brain barrier and differentiate into brain cells. They can become any other cell in the body and migrate to where there’s a need for cells.” Feingold said she was “very cautious” about recommending stem cell therapy because the results are so uncertain. But she added that there has been success with other genetic diseases like sickle cell anemia, so she also feels “very hopeful.”
Because all of Matthew’s alternative therapies, travel, supplements and medicines are so costly – and with little or no insurance coverage – the Youngs are reaching out to the community with the help of their friends.
Rachel Taylor is the PTO chair of the Care Team at Roaring Brook Elementary School, where Matthew’s sister, Hannah, is in first grade. The Care Team’s mission is to help families in need, and when Taylor learned about her friend’s baby, she went into action.
Taylor explained, “We have an account set up in his name and are trying to raise money. Every month it costs so much with medicines and treatments. This (stem cell) treatment could save his life, or at least improve his quality of life to keep him from deteriorating rapidly. I’m sending e-mails to get the word out that way.”
Her flyers consist of Matthew’s sweet portrait with an explanation of Menkes disease and a request for donations and prayers. Matthew’s mom said that donations would go toward medical needs, nutritional supplements and medications. “We’re paying for stem cells and travel out of pocket,” she added.
Rachel Bartlett Rosado, another friend of the Youngs, is hand-making Swarovski crystal bracelets called “Matthew’s Miracle” bracelets, and 100 percent of the proceeds of the sparkling blue sapphire jewels go to Matthew’s care and treatment.
The Youngs hope for a miracle with stem cell therapy. Melissa Young said, “If he gets positive results, we’ll definitely go back. The way he’s responded to treatment thus far, I don’t see why he won’t respond to stem cell treatment. There’s a long road ahead, but at least things are looking better.”
Donations may be sent to the Matthew Cole Young Foundation, c/o The Simsbury Bank, 27 Dale Road, P.O. Box 819, Avon, 06001. To purchase a “Matthew’s Miracle” bracelet ($30 for child-sized, $40 for adult), contact Rosado at Rachelbjewelry@sbcglobal.net, or call 677-0776.
Read more about Matthew’s story at www.caringbridge.org/visit/matthewyoung. CaringBridge is a nonprofit organization that helps friends and families stay connected.