Tuesday, December 20, 2011

Spinal Muscular Atrophy

Liya


SMA Fast Facts-

  • SMA is a progressive neuromuscular disease.
  • SMA is the number one genetic killer of children under two. (SMA Type 1)
  • One in 40 people unknowingly carry the gene that causes SMA.
  • It is a relatively common rare disorder, one in 6,000 babies are born with SMA.
  • There is usually no previous family history.
  • SMA affects people of all races and genders.
  • The National Institute of Health selected SMA as the disease closest to a treatment of nearly 600 neurological disorders.
  • Researchers believe that a treatment will be found within the next 5 years with the proper resources.

Symptoms of SMA-
is characterized by a progressive loss of muscle control and movement and increasing weakness due to the loss of motor neurons (nerves) in the spinal cord. Proximal muscles (muscles closest to the center of the body, such as those in the trunk and neck) are more severely affected than distal muscles (muscles furthest from the center of the body, such as those in the hands and feet). There is a wide range of severity of SMA; however, even in its moderate form, SMA can limit function and mobility. People with SMA either never acquire, or progressively lose, the ability to walk, stand, sit and eventually move. Although the disease varies in terms of age of onset and severity, most patients start to show symptoms during infancy or as toddlers. Respiratory illnesses may be more common for people living with SMA and can be severe. Good multidisciplinary care, including physical therapy, occupational therapy, respiratory therapy, and nutritional support, can improve quality and length of life for people with SMA. It is important to note that children with SMA undergo normal intellectual and emotional development and, with help and support, can participate in many childhood activities.

Types of SMA-

People with SMA are grouped into one of four categories, based on certain key motor function milestones and age of onset.

Type I, Acute Form of SMA (Werdnig-Hoffmann Disease): Patients typically exhibit limited movement and have difficulty holding their head straight, feeding, and swallowing. The progressive weakening of the muscles leads to respiratory infections, lung collapse and eventual death, usually by the age of two years. About 60% of patients with SMA are born with this form of the disease.

Type II, Intermediate Form of SMA: (Our daughter has Type 2) Symptoms usually emerge in patients between six and eighteen months, and the progression of symptoms varies greatly. Infants and children with this form of the disease are at one time able to sit unassisted, but do not walk independently. Kids with Type 2 have weak chest cavity muscles, though not as severe as Type 1. As with all types of SMA, the common cold can turn into a dangerous threat if it isn’t treated early and aggressively. Due to the varied progression of symptoms, life expectancy ranges from early childhood to adulthood. The majority of Type 2 patients live into adulthood. 

Type III and Type IV, Milder Forms of SMA with a later onset:
People with Type 3 and 4 often exhibit difficulty walking and have mild muscle weakness. These patients have a normal life expectancy.

Every person with SMA presents a unique case in terms of severity and rate of progression. As for our daughter, from what we can tell she is a strong Type 2 since she has never been able to walk but still has the ability to crawl, sit, and even stand with support for a few minutes. Sadly the degenerative nature of this disease means these abilities will diminish over time. Currently there is no cure or treatment for SMA. Caring for a person with SMA involves preventing complications of the disease. Since the muscles controlling breathing are affected, the most crucial aspect of care is to maintain respiratory health.

Since I am well aware that the information above is rather discouraging, I’ll leave you with this encouraging quote from an article I recently read from the Johns Hopkins Medicine magazine:

But now, with the help of better clinical care and new research, the potential has never been brighter for people with this disease. SMA patients are living longer and longer, and treatments that could radically improve their lives and outlooks hover tantalizingly on the horizon.

“SMA has gone from being one of the most hopeless of the neuromuscular diseases to one of the most hopeful,” Crawford says.

The information above is taken from these websites:

Additional information can be found here:

5 comments:

Lori said...

Lisa,
How good is our God that moves us according to HIS plan. Knit together by Mezekir and Ephrata, our family's hearts will continue to lift you up as you enter into this new adventure on God' journey. I lOVE that you have allowed HIM to guide your direction rather than directing it yourself. May God by your strength and encouragement as you walk this road.
Soli Deo Gloria,
Lori

laurajonesjournal said...

Lisa,
I will pray for you. God has chosen a very blessed road for you to walk down. Many would run the other way! I really truly believe that their is much growth and richness ahead in your walk toward your daughter, as you lean on God to be your EVERYTHING.

This prayer made me think of you today:

"Help me Lord, to know beyond a shadow of a doubt that in all things you work for the good of those who love you, who have been called according to your purpose. (romans 8:28) Please help me to see the condition in that promise. You are not obligated to work all things together for good for those who neither love you nor are called according to your purpose. You obligate yourself to this awesome promise when I offer you my aching heart and commit myself and my suffering to your good purposes. If I do, you will do more with my life than I could ever conceive. (I cor. 2:9)

Stand Firm! I will pray that He reveals Himself in this over and over and over. God bless you.
Laura

laurajonesjournal said...

there not their!

Brooke said...

There will be many challenges ahead, but God will be there to help you get through each one and so will your family and friends. This little girl is so special and truly gifted. You are a blessing to her as she will be to you. I cannot wait to see her come home and in the arms of her family!

Melissa said...

This comment is more than half a year late, I realize. But my husband and I are friends of Matt and Kristi's from college, and I wanted to stop by here and offer up prayers for your family on your SMA journey. Kristi made the connection that one of the family blogs you follow - the Castens (Ella's Corner) - is a family at my church, and so I have been up close and personal to their SMA journey. So I thought I'd stop by and say hello, and let you know that you are in my prayers! You have a beautiful family. Thanks also for sharing your adoption experiences here; they are important and meaningful. Blessings to you and your girls!