Spinal Muscular Atrophy

These three words have radically changed our lives. Our daughter in China has Spinal Muscular Atrophy Type 2 or SMA. We have been told that this is probably an accurate diagnosis and not like what we experienced with Liya. This post is just a brief overview of SMA. I’ll save my thoughts for another time.


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-

Spinal Muscular Atrophy 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:

SMA Foundation

STOP SMA

Additional information can be found here:

Families of SMA

Fight SMA

MDA

Good Morning Medley

I just heard this coming from Liya's bedroom as she is waking up:

I missed the first part of it so I'll just insert the original lyrics although I'm guessing she used her own creativity :) To the tune of "Are You Sleeping"

Are you sleeping? Are you sleeping?
Where's my mom? Where's my mom?
From there it went to a medley of London Bridge/Mary Had a Little Lamb.
Now This Little Light of Mine, etc...

We went in to get her up and find her missing the footie pj's she went to bed wearing and her diaper half-off. I guess she has to entertain herself somehow while I savor the last few moments of the quiet morning.

Homestudy, Yes!

One huge thing can now be crossed off our adoption to do list. Finally, after a month long delay due to some paperwork we were initially told we didn't have to have, our homestudy is completed and now in the hands of our adoption agency! Yay!!! One major stressor (spell check tells me that is not a word) done...many more still to come. Our file can now move on to our agency's official China program and we will be assigned a China case manager.

While it looks like my timeline is out the window (those darn plans again!), at least we are moving in the right direction and one step closer to being united with "China" as Liya calls her. Since our homestudy is finished we can now send in our I800A (Application for determination of suitability to adopt a child from a convention country) to USCIS (United States Citizenship and Immigration Services). We will need to wait for them to give us an appointment to be fingerprinted and then wait for everything to be processed. It took two months for our last adoption so I am praying it will be as quick this time around if not quicker (I really should stop doing that to myself!). Once we get that approval we can send in our dossier (mountain of paperwork) to China! That will conclude the majority of our end of the "before we travel paperwork".