Oct. 23, 2013 marked a new journey for our family.

Our sweet precious Harper was diagnosed with Spinal Muscular Atrophy (SMA).

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Around 5 months old, we noticed a change in Harper's development.

She wasn’t kicking her legs and moving them around as much as she used to, and she had lost the ability to pick up her head while on tummy time. We took our concerns to her pediatrician and a couple weeks later, our fear was confirmed. Harper was diagnosed with SMA Type 1. We were sent home with the only instruction to “watch” her. Katy Perry’s song “Roar” quickly became Harper’s theme song. That, along with prayer and the many supporters we have, we’ve been able stay positive, faithful, and strong.

We “watched” Harper progress to smiling, laughing, reaching for toys, baby babbles, slightly sitting to sitting up for short periods, and now sitting for longer periods unassisted. Then at her January 15, 2014 neurologist check-up, we tearfully “watched” as her doctors re-diagnosed her as SMA Type 2 due to her ability to sit. Although we still have complications to watch out for, we have so much faith that sitting isn’t the only thing we are going to watch our little fighter do! This is HARPER’S ROAR!!!

Up-to-date information on Harper can be found her her Facebook page: Harper’s Roar

 

About SMA

(Source CureSMA.org)

SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.

SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.

SMA affects approximately 1 in 10,000 babies, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.

There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved.

Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.

Though there is currently no approved treatment for SMA, there’s great reason for hope. We know what causes SMA and what we need to do to develop effective therapies, and we’re on the verge of major breakthroughs that will strengthen our children’s bodies, extend life, and eventually lead to a cure.

Please visit Cure SMA for further information about causes & diagnosis.

 

Singh (46)

Harper's Roar T-shirt

Harper’s Roar has partnered with a veteran based company, Texan Up, for the new Harper’s Roar t-shirt.  To purchase: Harper’s Roar t-shirt (kid sizes available and proceeds benefit Harper)

 

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Purchase Your Shirt Today!

 

Are you 1 in 50?

Carriers

Most people have two functioning copies of the SMN1 gene. People with one faulty copy and one functioning copy are called “carriers.”

Even though carriers don’t have SMA themselves, they can still pass the faulty gene on to their children.

Approximately 1 in 50 people is a genetic carrier for SMA. Most have no idea they are carriers until they have a child born with SMA.

How SMA is Inherited

SMA is a recessive disease, which means that, generally, a child will only have SMA if both parents pass on the SMN1 mutation.

When two parents are carriers, there is:

If only one parent is a carrier, the child is usually not at risk for SMA (though they do have a 50% risk of being a carrier). However, in very rare cases, mutations in the SMN1 gene can occur during egg or sperm production. In this situation, only one parent will be a carrier of theSMN1 mutation. In addition, a small percentage of carriers have a mutation that cannot be identified through current testing. In this case, it will appear as though the disease has been caused by a single carrier.

Carrier Testing

A DNA test is the only way to detect carrier status. The DNA test is simple procedure, based on a small blood draw. In the general population, this test can detect about 95% of carriers. However, in African-American populations, detection is closer to 70%. This is because an undetectable mutation is more frequent in African-American populations than in other races.

Deciding whether or not to undergo genetic testing is highly personal, and we strongly recommend discussing it with a physician or genetic counselor. Usually, the testing is only recommended—and only covered by insurance—for those known to be at risk for genetic diseases.

Reproductive Choices

For couples who are carriers, reproductive decisions can be sensitive. A number of options are available, such as adoption, prenatal testing, and pre-implantation genetic diagnosis (PGD). PGD screens embryos for genetic disorders and selects the unaffected embryos for implantation.

Cure SMA believes that your family has the right to choose whatever option is best for your own values. We help families understand their options and provide resources to support their decision-making process. We do not advocate any specific course of action, nor do we pressure families to choose one way or the other.

We encourage each family to discuss their situation with a physician, genetic counselor, and—if helpful—a therapist or a spiritual advisor.

All information above is derived from CureSMA.org. You can find further details on genetics and how to get tested by visiting their website.

Donate

Thank you for supporting Harper's Roar and raising awareness for Spinal Muscular Atrophy (SMA). Funds raised will go toward medical bills and special equipment for Harper and Cure SMA. If you would like to donate but prefer to mail a cash donation, please mail to First National Bank, P.O. Box 671, Livingston, TX 77351. Checks payable to Harper's Roar.

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Be sure to check out our Facebook page which is updated on a regular basis. Thank you for your support.

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 Singh (41)

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