Rare Disease Day!!

Rare Disease Day is today, February 28, 2014.  It is about raising awareness about rare diseases & the impact that these rare diseases has on the patient's lives.  It is open to everyone to join- Patients & their Families.  This was first launched in 2008. It started as an European Event, but has became a world event.  The US joined in 2009.  Total of 63 countries are now participating in 2012.  

Ashleigh has a rare disease.  When we were told Ashleigh has Spastic Paraparesis, we never heard of it before that day.  I searched the internet for this disease.  Learned about the Foundation, SPF.  I was so happy that we had a Foundation that we turn to for information and help.

If you are thinking, what is Spastic Paraparesis?  

Here is a definition of what HSP is from the foundation's website:

"Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. Researchers estimate that some 30 different types of HSP exist; the genetic causes are known for eleven. The HSP incidence rate in the United States is 20,000 people."  

"Many different names are used for HSP. The most common are Hereditary Spastic Paraplegia (or Paraparesis), Familial Spastic Paraparesis (or Paraplegia), and Strümpell-Lorrain Disease. Others are Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer syndrome, and Silver syndrome."

What are the symptoms?

"The hallmark of HSP is progressive difficulty walking due to increasingly weak and stiff (spastic) muscles. Symptoms appear in most people between the second and fourth decade of life, but they can start at any age.

Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling. Changes begin so gradually that other people often notice the change first. As the disease progresses, canes, walkers and eventually wheelchairs may become needed, although some people never require assistive devices.

Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski's sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched foot). Some people may experience problems with their arms or fine motor control of their fingers but for most people, this is not significant."

This chart explains HSP very well.  

To me, HSP (or spastic paraparesis) is not a good disease to have.  I try to explain this disease by explaining that it has stages.  One stage is when Ash can walk.  The next is a walker.  The final stage Ash will be in a wheelchair.  Right now Ash is in the first stage, but in the beginning of this month, we were told to get the house prepared for a wheelchair.  It breaks my heart that Ashleigh will lose her ability to walk, but we will take one day at a time.

If Ashleigh has a question about her disease, we have not lied to her.  We answer the question honestly for her.  We do not like it when she lies to us so we will not lie to her.  We are teaching our kids that honest is the best policy.  Ashleigh was in the room when her doctor told us about preparing the house.

We know Ashleigh will grow up to be a wonderful young lady.  She has a great heart.  She is kind, caring, & a great friend to those who she meet & those she is already friends with.

Have a great night!
Melissa  

Previous Rare Disease Day for 2013