Brooke was born December 5, 2008 and our family was overjoyed with adding another little girl into our family but sad that Eric would be leaving at the end of the month to be deployed to Afghanistan. Five days before Eric was deployed to Afghanistan we received devastating news that Brielle was diagnosed with Spinal Muscular Atrophy December 29, 2008.
Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”: approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body – i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable.
Since SMA is a genetic disorder Brooke was also tested shortly after birth and after 4 weeks of waiting for blood results we were notified that Brooke will also suffer from this horrible disease. Both girls have been diagnosed as being a type II. We have since enrolled Brooke in the “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” (or “STOP SMA”) study being conducted by Dr. Kathryn Swoboda at the University of Utah. The study requires Brooke to be evaluated every three months for two years. We have made 4 visits out to the University of Utah and every visit is a tough one because of all the invasive testing they have to do on her but we are happy to say that Brooke is not showing any symptoms of SMA yet and she is a really strong little girl who likes to crawl all over the place.
EMG Study with Dr. Swoboda
Our room at the hospital – Univ of Utah
Brooke – PT test
Brooke – 11 months old
Currently there is no cure for this devastating disease but researchers are working hard to find one. Since the beginning of the year we have made 2 trips to the Children’s Hospital Boston (CHB) SMA Clinic, 1 trip to the CHB SMA Day, 2 trips to the Shriner’s Hospital in Chicago, 1 trip to the Families of SMA Annual Conference, 4 trips to University of Utah, countless trips to the neurologist and pediatrician’s office and twice a week physical therapy appointments for Brielle and bi-weekly physical therapy sessions for Brooke and my favorite trip was re-visiting Punta Cana when Eric came home from Afghanistan.
My dad passed away March 30, 2009 and that was a really hard thing for us to go through. Eric was able to come home on emergency leave and could stay for 2 weeks. It was so great that he could come home but it was so hard to say goodbye again. My mom was able to RETIRE this year so she has been extremely helpful and we see her every day!
May 2 we participated in our first Families of SMA Walk-n-Roll for the Michigan chapter. I’m proud to say we were able to raise over $10,000 for research to find a cure. We had a great time and we got to meet some other SMA families in the state.
Brielle has acquired quite a bit of equipment in less than a year. Currently she has a power wheelchair, manual wheelchair, power wheelstand (Standing Dani), gait trainer, 2 pairs of orthotics for her feet and an AmTryke tricycle. All of these things make her life easier to get around and gives her the independence she craves. Her power chair and standing dani can only be used at home because we need a 10’ ramp to get the chair in our vehicle and a 10’ ramp just isn’t portable! We are hoping to purchase a converted van next spring so that Brielle can easily and comfortably go anywhere in her chair and it will save my back as she gets bigger because I can currently carry her around. We are planning on doing a fundraiser in the spring to help with costs for the van conversion and medical equipment not covered by insurance for the girls.
Eric was deployed to Kabul, Afghanistan January 3 for approximately 6 months; he treated the sick, wounded and critically injured soldiers and also was a mentor and advisor to the Afghanistan doctors. He would also treat the local nationals, sometimes seeing as many as 500 local nationals a day with the help of another provider. He also traveled to villages in need of medical support to provide medicine, milk and vitamins and also helped with security.
In his off time he volunteered for Operation Outreach (http://www.friendsofoperationoutreach.com/) to treat children with trauma, burns and bad infections. The children had no winter coats, shoes, socks, and gloves for the winter so while he was there he asked friends and family to send whatever they could for the children. The total amount of clothes, food and blankets that were sent during his tour totaled 1400 lbs. that were distributed to the Afghanistan people!!! Eric was awarded the Meritorious Service Medal for all his accomplishments as well as the NATO Metal, Global War on Terrorism Medal, Afghanistan Campaign Medal, National Defense Service Medal and the Armed Forces Reserve Medal. We are very proud of our hero.
We couldn’t have made it through this past year without our selfless friends and family. Thank you for all of your prayers and support through this past year; we love you all very, very much!! Hope you have a Wonderful Christmas and we are looking forward to a better year in 2010.
The Kennedy Family