Monday, April 3, 2017

Wolf-Hirchhorn syndrome 2

It's a rare genetic disease that many doctors are unfamiliar with  - having to do with the deletion of a portion the 4th chromosome, which can affect many parts of the body.

One Yuma boy is fighting the odds.

"He loves school, he loves playing, especially the slide, he loves bubbles, he loves string." says Luz De Anda about her 4 year-old son Mikey.

Joys which are pretty typical for a pre-schooler. But in contrast to typicality, Mikey has Wolf-Hirschhorn Syndrome -- also known as Chromosome 4P Deletion Syndrome.

Mikey's story, like his disease is unique. For the first year-and-a-half of his life, his parents thought he a was a normal boy. That was until after he received his first year vaccination.

"He wasn't talking, he wasn't crawling, he wasn't doing a lot of stuff that he should have by that time. He was a year-and-a-half old," says Luz De Anda.

The family sought out a chromosome analysis in Scottsdale, Arizona. Results came back with an answer.

"I asked, so what does that mean for him? -And she said well, he may never walk, he may never use the restroom on his own, he will be severely mentally retarded.. then she said, we'll talk more if you need and just know that's what the results were," says Luz.

More news was soon to follow.

"So, a half-hour later ... the midwife tells us we're expecting twins, so within an hour my whole life was kind-of shaken," says Luz.

Concerns about her future children immediately grew, followed by extensive research on the syndrome…

"35% of the children die before age two, but that leaves 65% who are surviving and some of them survive well into adulthood," Perry [Dr. Patti Perry] says.

The disease is rare, only appearing in 1 out of nearly 50,000 people. That number though, is high according to experts, as many cases that could have been accounted for have been aborted or miscarried…

"It can be very hard on families, because these are truly special needs children," says Perry, as they'll need physical, occupational, and speech therapy.

Perry continues, "they'll need to be placed in a Special Ed class where they can receive some guided care from the educational process, and they need a very supportive family."

That's no problem for Mikey, as his mother, Luz, is a substitute teacher at San Pasqual Valley High School in Winterhaven, California -- and she can only rave about his progress.

"I just tested him the other day on a pre-k assessment that a good friend of mine who is a preschool teacher gave me.. and he did phenomenal!"

"He recognized all the letters, he recognized all the numbers besides 9 and 10 he got mixed up, shapes hes got 'em, colors he's got 'em."

"The neurologist says he's the most advanced child that he's ever seen with Wolf-Hirschhorn Syndrome."…

Luz continues "Mikey's timeline is different and i have to be patient with that ... He may never be able to do some things, and that's okay."

The family says they'll just keep going one day at a time. They also say Mikey's last seizure was this past January - after going nearly 2 years without one. Though it was a set back, his family has noticed more alertness and more intelligence in Mikey's day-to-day life.

There are still many questions about Wolf-Hirschhorn syndrome. Experts say it's rare to be genetically inherited, others say it's a spontaneous mutation.

An international support group online [ ]is available for families to connect and learn more.

The oldest member of that group, according to that website, was born in 1949, and several others are in their 30's and 40's.

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