Sunday, October 30, 2005

Surgery

October 30, 2005
Well, we are ready for our trip to Philadelphia. Besides a vehicle set-back after our van, I, rear-ended a small car on a nearby Parkway that is continually congested with senseless commuting traffic.
We are incredibly blessed everywhere God puts us and this place is no exception. Some incredible friends gave us their minivan to use for the week while they get ours fixed. We are forever grateful to the friends God has given us!!
I'll write another update after we return.

Thursday, October 13, 2005

Plans

October 13, 2005
Since Emily was diagnosed with SMA on August 26 we have been planning how we are going to approach her care. You see, every SMA baby is different in how they react to the sometimes very irritating therapies and treatments. Linnea was very tolerant of the treatments and seemed so content no matter what was going on. Emily has already shown us a great deal of frustration with her failing ability to move like she seems to want to.. like we all want to. When we take her out of her car seat and pull on her arms a little, as if she were stretching, she gets that funny pleased look on her face. The kind you'd see yourself making if you could see your first stretch of the day. Pure bliss! She cannot do it on her own, so we do our best to help her stretch when she looks like she needs it.

Our latest struggle has been to find a team of doctors to perform a Gtube/Nissan surgery on Emily. The Gtube, feeding tube, will allow us to continue feeding Emily because her swallowing ability is failing fast. The Gtube will also allow us to vent Emily's stomach when we use the cough assist machine which helps us maintain her pulmonary health to a degree. The Nissan fundoplication is a surgical wrap around the top sphincter muscle of the stomach that helps prevent potential reflux problems. If an SMA child refluxes they are at high risk to aspirate and die quickly. Although there is some argument about whether or not the Nissan is necessary in SMA kids, we, along with most doctors familiar with SMA, feel that the risks are too great to not get a Nissan along with the Gtube. This has caused some problems in getting the care we feel is best for our family and disagreeable and/or unfamiliar doctors have forced us to look as far as Utah for the care we want. Fortunately, we were blessed to find a team of doctors in Philadelphia that agree with us and we are scheduled for surgery on November 1!! That is a HUGE answer to prayer.

The other update is that we have been participating in a clinical trial with Dr. Swoboda in Salt Lake City, UT that involves infrequent visits to UT, and four doses a day of some pretty foul tasting medicine. We visited the hospital in SLC in early September and underwent some recording and sampling of Emily's abilities, blood, and neurological activity. We also offered our own blood for future testing. SMA I is caused by the absence of the gene that is responsible for stimulating the body's voluntary muscles i.e. leg, arm, neck, facial, lung, muscles.. etc.. The medicine we are trying helps stimulate the backup genes that have proven to not do their job very well. There has been a great deal of success with SMA II kids and we have seen some, be it minimal, improvement or maintenance with Emily's muscular abilities, but not enough to deal with her rate of growth. We are participating in this trial for the sake of future medical breakthroughs.

Well that is a long update, but I wanted to get some of that out of the way. Please pray that Emily's surgery will go well and that I will find a new employer soon so we can buy a home in the area. This will allow us to take care of Emily much more effectively b/c the electricity goes out in our present rented home quite often. More to come...

Saturday, October 08, 2005

The First of Many

October 8, 2005
This will be the first entry for updates about Emily Hope Lee and our adventures with her. Emily has been diagnosed with Spinal Muscular Atrophy and we do not know how long she will live. This is very difficult.

Friday, October 07, 2005

About Emily Hope Lee






"We are confident that as you share in our sufferings, you will also share in the comfort God gives us." (2 Cor 1:7)

Hi, my name is Emily Hope and I have Spinal Muscular Atrophy (SMA), Type I. SMA is a neuromuscular disease which not only weakens the muscles that help me move, but those needed for breathing, swallowing and clearing my airway. I am not able to sit or stand and my arms are very weak, so my family helps me have fun by taking me on walks in my wheelchair and helping me play with my toys. I live with my Mommy, Daddy, big sister, and Aunt. I also have nurses that come and help take care of me. Every day they give me multiple medical treatments to keep me healthy, so I don’t have to go to the hospital. I love watching Dora and Veggie Tales, swinging, and playing with my family. They have to help me with all of that, but they enjoy it too!!

When I was diagnosed at only 5 weeks old the doctors told my parents that I would probably die before I turned two, like my older sister Linnea who died when she was only one year old. But, now I am four and half years old much older!! My parents have had to work very hard to keep me healthy, but they love me so much and do everything they can to give me the great life that I have. My doctor visits and medical equipment are very expensive, so they have a lot ot think about as they care for me.

SMA is one of the most prevalent genetic disorders:
  • One in every 6,000 babies is born with SMA. Of children diagnosed before age two, 50% will die before their second birthday.
  • SMA can strike anyone of any age, race or gender.
  • One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.

Links

Here are a few web sites you may find additional support through

  • SMASpace - SMASpace is a social networking site provided by Eminnea Inc. for families, caregivers, and organizations battling SMA.
  • Eminnea, Inc. - dedicated to helping you connect with local and internet-based resources that will help you on your journey with SMA
  • Dr. Kathy Swoboda - Expert on SMA and selfless advisor to many, many families.
  • Gwendolyn Strong Foundation - GSF seeks to raise awareness about and fund research for SMA
  • Families of SMA - Families of SMA was founded in 1984 for the purpose of raising funds to promote research to find a cure for Spinal Muscular Atrophy, and to support families affected by SMA.
  • FightSMA - An international nonprofit organization dedicated to finding a treatment or cure for spinal muscular atrophy (SMA), the leading inherited killer of children under two.
  • SMASupport - Dedicated to providing information and support to family, friends, individuals and caregivers on all aspects regarding the devastating genetic disease called Spinal Muscular Atrophy.
  • Addy's Adaptations - Addy’s Adaptations, Inc. is a non-profit organization that was started to provide additional avenues of help and hope for families who are dealing with SMA.
  • Kyle and Friends - Kyle and Friends is dedicated to spreading awareness about Spinal Muscular Atrophy, giving newly diagnosed families the most up to date information, and raising money for a cure.
  • B4SMA - Our sole purpose is to provide love and blanket hugs to SMA children and their families. B4SMA was founded in March 2004 by MJ Purk and Brenda Hanson.

Encouraged Reading:

Linnea Grace Lee

On September 21, 2004, our second-born daughter Linnea passed away from the affects of SMA. We miss her each and every day, but thank the Lord for the time we had with her. Follow the link to read our story about her beautiful life.

About SMA

About SMA:

  • One in every 6,000 babies is born with SMA. Of children diagnosed before age two, 50% will die before their second birthday.
  • SMA can strike anyone of any age, race or gender.
  • One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.