November is Menkes Awareness Month in Alaska. However, even though the disease affects thousands of children across the country each year, there is only one known person with Menkes disease in Alaska, and his name is Reyes Aliva of Anchorage. What makes Reyes’ and the Aliva family’s story so heartbreaking is that Reyes will only be turning 2 years old in December.
Menkes disease is a rare and devastating genetic disorder which affects the metabolism of copper in the human body and deprives the brain and other tissues of this essential mineral. Menkes typically begins in infancy and often accelerates within two to three months. Symptoms include weakened muscles, seizures, coarse or brittle hair, irritability, eating difficulties, low body temperatures, pale skin pigmentation, urinary tract infections and respiratory difficulties. These symptoms impair physical growth and delay the development of essential mental developmental skills. Weakened bones often result in fractures, and the deterioration of the central nervous system associated with Menkes may lead to arteries becoming ruptured, blocked, or destroyed over time, which inevitably leads to brain degeneration. The disease affects one in every 100,000 newborns.
Reyes T. Aliva was born on Dec. 19, 2011 to Marcelo and Rina Avila in Anchorage and is the third child in the Avila family to be diagnosed with the disorder. Reyes’ siblings, Tommy and Antonio, both have died from Menkes disease. Reyes’ diagnosis was caught at birth due to a genetic screening. He received two copper injections every day for the first year of his life, and it has only been within this past year that Reyes has been bumped down to only receiving one daily injection. At birth, Reyes weighed 9.4 pounds and was measured to be 21 inches tall. He now weighs 19 pounds and is almost 30 inches tall.
“We started Reyes on the copper injection right when he was within the first stages of his life, and that was the thing that made the difference for Reyes compared to his brother, Tommy,” said Reyes’ mother, Rina Aliva. “We’ve been told that when Reyes turns 3, we can start moving away from the copper injections and start alternative forms of treatment. We’ve also been told that by the time he turns 3, he’ll have enough copper reserves in his body to stop the injections.”
Reyes deals with harsh realities every day. Reyes is unable to walk or crawl and is regularly fed through a feeding tube, as his appetite is largely affected by his disorder. Reyes also has a difficult time regulating his body temperature, as he is almost always either experiencing the sensation of being too hot or too cold. Since Reyes is still less than 2 years old, his vocabulary is still extremely limited and it is increasingly difficult for him to express his needs to those around him.
“He laughs and babbles, so in a lot of ways, he’s just like a baby,” said Rina Avila. “He has a couple words down, like ‘momma’ and ‘papa’ and ‘leche’ when he wants milk, but it’s hard to tell what he is feeling. He can never balance out his own temperature, and he does have Menkes hair, which is really smooth in the front but a lot of coarse hair in the back. He is also kind of floppy, but we‘re working on that. We have him in physical and developmental therapy about twice a week.”
Reyes and his mother have made several trips to Washington D.C. to see a specialist, Dr. Stephen Kaler, who is the Clinical Director of the National Institute of Child Health and Human Development at the National Institute of Health in Maryland. Kaler is the leader of a study on Menkes disease and the treatment of it during the first stages of infancy. It has been found that the earlier that a child can be diagnosed with the disorder, there is a substantial increase in the chances of a successful treatment. Reyes is part of Dr. Kaler’s study and flies to the National Institute of Health with his mother every few months to meet with Dr. Kaler and update him on Reyes’ progress.
“We plan on going up again in February and after this trip, we’ll most likely go in about a year and get an EEG to see what the copper has done for him,” said Rina Aliva. “I know it has been helping, and maybe in about six months Reyes will start to crawl, but it is hard to tell. The average life expectancy for a child diagnosed with Menkes is 3 years, and my first child died when he was 2. This upcoming birthday for Reyes is a big one for him and for me as well. I don’t know what is going to happen, but I did read that one kid lived long enough to graduate high school, so I have hope for Reyes.”
A Facebook group called “Raise with Reyes: Alaska Menkes Awareness” was made to support the ongoing Menkes research and advocacy for the children and families who experience life with Menkes. The group already has more than 70 members and continues to grow. The social media group is “our local effort here in Alaska to raise awareness and support Reyes and his humble spirit.” According to Reyes’ mother, there will hopefully be enough awareness to have a “Raising with Reyes” Menkes Foundation center in Anchorage opening by next year.
Donations towards Menkes research as well as more information on the genetic disorder can be found here.
This article originally appeared in The Bristol Bay Times and is republished here with permission.