Menkes Kids Stories

UPDATE....as you know, we have been waiting for the new experimental meds from Dr. Kaler.  i spoke with him last night and we are hopeful for summer 2015!! Keep praying!!!

Saturday, October 19th at the Cumberland Police/Fire Union Hall!!  You know the deal...Str8 On providing entertainment...tons of raffles, great food and all for a GREAT kid!!  Come show your support and if you can't make it, help him by making a donation...RIGHT HERE...through paypal on his site.

Blaine's 3rd annual fundraiser will be held on Saturday, August 25th at 4 p.m. at the Portuguese-American Social and Athletic Club in Smithfield, RI.

There will be raffles and a silent auction, live bands and lots of food!!!  If you have any raffle donations please contact me at [email protected].  If you would like to buy a ticket or donate, I do have tickets at school or you can go to the link on the home page here and donate through paypal.  Tickets are $20.00.  Blaine also has GOT COPPER items for sale.  All monies go to the Menkes Research Fund to give other boys a bit of hope and hopefully someday a cure.

Thanks for coming to his site!!!

Hope to see you in August.

Well, we were waiting since fall 2010 for some meds to come in from Japan that were not available in the U.S.  We were told fall, then by Christmas, then beginning of the year and were disappointed to recently learn that we will not be getting it.     His specialist though, Dr. Stephen Kaler, will be working on making the meds himself at the NIH, testing them and then Blaine will be 1 of 6 boys to try it out, if FDA approved...it'll be a while though.  YA CANT KEEP US DOWN...We can wait, cuz we have to.

A Family’s Race Against Time

by Missy Bird Tooele Transcript Bulletin

Feb 03, 2011 | 133 views | 0 | | 2 | |

One-year-old Skyler McCracken has Menkes Disease, a rare genetic disorder that prohibits the body from transporting copper. Skyler receives daily copper histidine injections.

- courtesy of Lori Hicks

slideshow Tooele couple battle to save young son from rare disease

Jon and Stacy McCracken knew their 1-year-old son’s hair looked a little strange. Skyler McCracken had long, stringy blond hair on the top of his head and short, brittle black hair on the bottom resembling a Brillo pad.

It wasn’t until September of last year that the McCrackens learned Skyler had kinky hair syndrome, the colloquial name for Menkes Disease, a rare copper deficiency that affects motor and developmental skills due to the body’s inability to transport copper.

“The body only needs a minute amount of copper, but it controls neurological and muscular growth and controls some of the cerebral development in the brain,” said Jon.

The life expectancy of those with Menkes Disease is only about three years, according to Jon, but the McCrackens are hopeful a new treatment can prolong his life, or, save him altogether. Jon says Skyler seems to be improving since administering copper histidine injections in mid-December.

The Tooele couple, who also have a 2-year-old adopted daughter, adopted Skyler right after he was born two months premature in December 2009. He was in and out of the hospital for the first few months of his life due to illness — he is in the hospital now for bronchiolitis — and it wasn’t until he was 6 months old that they started to notice he was behind in some developmental areas such as keeping his head up, not being able to roll over and keeping his hands tightly clenched.

“He was a little behind, we noticed but we assumed that was from the fact that he was premature,” Jon said.

During an appointment with pediatrician Dr. Jim Gould at Mountain West Medical Center, Jon said that the mention of Menkes Disease was made “out of the blue,” because of Skyler’s odd hair.

“Jim was taking a good long look at him and said, ‘Are you sure there’s no African American in his history?’” Jon said. “‘As far as we know it’s Caucasian and the birth father is Hispanic, but no African American,’ we told him. He said, ‘I’ve heard of this one thing called kinky hair syndrome.’”

Although Gould knew the name, he had never seen a case and thought it might be a good idea to have Skyler tested just in case.

An appointment was scheduled for two weeks later. But upon further research by Jon and Stacy, they found that Skyler’s symptoms were reflective of Menkes Disease. So they moved the appointment up.

“Because of all those complications, the motor skills, mental, developmental and muscular, most children only live maybe to age 2 or 3,” Jon said. “Once we read all that we couldn’t wait two weeks. We called Dr. Gould’s office and said, ‘Let’s schedule this immediately.’ We didn’t want to take any chances. All the signs were pointing to this.”

The disease affects 1 in 350,000 boys, Jon said, as only males can get it after having it passed on from the mother’s genes on the X chromosome.

“That chromosome, and my son’s body, are malfunctioning,” Jon said. “His liver is not transporting copper. It either collects in the liver or in the brain. If it collects in the brain, it slowly builds up and messes with the neurological system. It also affects basic skills like being able to swallow.”

Skyler was tested in September by pediatric neurologist Dr. Joshua Bonkowsky at Primary Children’s Medical Center in Salt Lake City and the tests came back 100 percent positive that Skyler had Menkes. He is only the third case of Menkes Disease in 14 years at Primary Children’s, Jon said.

Following more research, Jon and Bonkowsky found Dr. Stephen Kaler, clinical director for the National Institute of Health in Bethesda, Md., the only Menkes Disease specialist in the United States. Stacy and Skyler flew to Maryland for more testing and to learn about copper injections, which the McCrackens now administer daily.

“Eventually, once the body gets the copper for a certain length of time, sometimes it kick-starts the gene into producing and transporting copper,” Jon said, which hasn’t happened yet for Skyler.

There was some good during the visit with Dr. Kaler. Jon said he was impressed with some of the things other Menkes patients are unable to do like smile and show facial expressions.

“My son was able to open and close his hands, most of them can’t by age 1,” Jon said. “He can track people with his eyes around the room. This disease for what it affects, this one little element, it affects a whole spectrum.”

Due to Skyler’s inability to swallow, he’s also on a nasogastric tube in order to get food.

“That’s the only way we can feed him because of his aspiration,” Jon said. “We did find out he can have foods that are honey-thick but it wouldn’t be for nourishment, only for the enjoyment of being able to taste food.”

Through the whole process, the McCrackens have made friends with parents of other children who have Menkes through Facebook, including the parents of a 15-year-old boy who’s been able to overcome the disease.

“The earlier you start copper injections, the better the outcome or the more likely it’ll almost disappear, like he didn’t have it at all,” Jon said.

Jon added that although the medical consensus is there’s only a 25 percent improvement from the copper injections, the McCrackens have heard of better results anecdotally from other parents.

Taking care of two toddlers, one with Menkes, has been difficult on the couple. Jon builds turbochargers at Detroit Diesel and Stacy is a bank teller at Wells Fargo in Tooele. Stacy’s mother and father watch the children while they work.

“[Fighting the disease] does take a lot of time,” Jon said. “I wish there were more hours in the day. I’m either constantly on the go or sleeping.”

While some of Skyler’s medical expenses are covered by insurance, Jon said some things like his feeding and hospital visits, which aren’t, are causing a financial burden.

“The best case scenario is we can at least keep him healthy and from catching any more illnesses,” Jon said. “We’re taking it day by day. We don’t really look too far out just because we know the disease. We just try to keep him healthy.”

A Skyler McCracken Donative Fund has been set up at Wells Fargo to assist the family.

Read more: Tooele Transcript Bulletin - A Family’s Race Against Time