Sunday, May 13, 2012

MPS-Sanfilippo Syndrome: Suzanne's Caregiver Story

     Suzanne lives here in Louisville, MS, where I do.  She was Corey's homeroom teacher in the 3rd grade for part of the year.  The rest of the year, she was on maternity leave after giving birth to a baby boy.  That's about all I knew about Suzanne until the past couple of years. That's when her life changed forever, and our community came to learn about MPS-Sanfilippo Syndrome.
     Quinn was that baby boy born 5 years ago.  Just 2 years ago, he was diagnosed with MPS, or Mucopolysaccharidosis. It is a very rare genetic disorder that I had never heard of.  Since then, Suzanne has been a warrior of an advocate for Quinn and all of the other children and families suffering with this disease. Through Facebook, I've been able to learn about Quinn's life, both the triumphs and struggles. MPS is such a different diagnosis, a life-threatening one, than what my daughter lives with.  And although I've extended an empathetic ear to Suzanne many times, I just couldn't relate to what her existence was like. That is, until now.  I'm so grateful to her for sharing her story with me. I know it will inspire and encourage others, just as it has me.
     I thought it would be best to begin this interview with a description of MPS Suzanne shared with me. It surely explains it all...

Understanding What MPS III-A
Does to a Child and the Family
by Lucas Hembree on Wednesday,
February 8, 2012 at 11:47pm

Let me introduce myself. My name is Mucopolysaccharidosis (MPS III-A). I’m also called Sanfilippo (pronounced San-fa-lee-po) Syndrome named after Dr. Sylvester Sanfilippo, who discovered me in 1963. I am an awful genetic disorder. I affect 1 in 70,000 little children. I cause the body not to produce a specific enzyme that helps to break down dead tissue in side the little one’s body. Since the waste can’t be broken down I cause the body to store the waste in places it’s not suppose to be. Like the brain, central nervous system, bones, joints, and vital organs. So now that this young child is at my mercy let me tell you what I’m going to put him and his family through for the next 10-15 years. That’s right, 10-15 years is about all I’m going to let this child live for.
 Then to make it worse they is no cure or treatment to get rid of me.

Let’s start out easy. Within the first 2 years of this child’s life I’m going to cause him to have several developmental delays. This includes learning to walk, feeding himself, and talking. After he does learn to walk he will be very unsteady on his feet. This is because I’m already starting to affect his joints. He will have several ear infections and will soon lose some of his hearing. Thanks to me he’ll never be able to enjoy hearing things like birds singing and crickets chirping. I’ll set back and laugh while the parents scurry around to all the different specialist trying to find out what is wrong. The parents schedule will soon fill up with appointments to specialist and physical therapy visits. I’ll let them enjoy their time of semi-normalcy for another 2-3 more years before I really start getting nasty.

Now by this time the parents usually know what is going on. They see him constantly chewing on things and having behavioral problems. That’s from where I’m storing the waste in his brain and I’m slowly making him mentally retarded. He will start to become more aggressive, hyper, and harder to control. He will have sleepless nights. His behavior will be similar to an Autistic child. It will be harder for him to walk without constantly falling down. He will become more resilient to pain and have thicker skin so you’ll have no idea of how bad he’s hurt when he falls because he won’t cry as a normal child would. I will start to change his outward appearance. I will cause his hair to become more course and his eyebrows thicker. I will widen his jaw and gap his teeth apart. All the complements on how cute and handsome he is will soon start to change to stares, gawks, or people looking away because they won’t know how to take his appearance.

Now to slow things down a little. Because of all the waste I’ve stored in the joints I’ll take his ability to walk from him. I’ll see that he’s confined to a wheelchair. I’ll cause him go into a vegetative state at this point. He’ll not be able to be potty trained or able to feed himself. Most of the children I affect will have to get a feeding tube put in. I’ll no longer let him communicate with anyone. You’ll look into his once vibrant beautiful blue eyes only to see a loving child trapped in his own body. I’m now going to really make it hard on the family. I’m also going to cause this child to have frequent and violent seizures. This will come along with the added complications to his heart and immune system.

Because I’m a rare genetic disorder the insurances company’s will be reluctant on covering his medical needs and equipment. As things become worse one of the parents will have to stop working in order to care for me full time. I will mental, physical, and financially drain this family. After all of this torment and anguish I will take the life of this child as I have so many in the past.

This is my interview with Suzanne:

Tell me about your son, and describe his disability.
Quinn is a 5 year old little boy that can light up the room with his smile. He can also destroy the room very quickly. Quinn was born in December 2006 very healthy and a happy baby. My second child, so I was calmer too. He was so very quiet, never cried, or made many sounds.  Ear infections started at 3 months of age, and finally at 9 months he got his first set of tubes.  The tubes didn't help, he continued to stay sick with green snot, fever, and yes, ear infections. Three ENT's later and our 3rd set of tubes, we learned that Quinn had moderate hearing loss in both hears. There is not a day that goes by, that I don't wish I had handled hearing loss better. Maybe I would not be typing this now.  Hearing loss and hearing aids were the end of the world to me at that time.  However, I finally accepted it, and I just wanted to hear Quinn say the word Momma!!  So we drove Quinn an hour and half to school at Magnolia Speech School in hopes of him learning to talk.  During this time I wanted to know why Quinn was losing his hearing.  He had passed his hearing test at birth. Tests after tests brought no results. Finally, in July 2009, we went to see a genetic doctor.  He walked in the room, took one look at Quinn, then said that he had something genetically wrong. Really, just by looking!!  At this time, Quinn had 12 tubes of blood drawn, urine sample, and EEG. We drove home to wait for the results. On August 12, I received a phone call saying they found something, and it would be 2 or 3 weeks before we could come back to hear the results. We could not except waiting that long. Brad called and found out that our precious baby boy had MPS.  The nurse told him not to look it up because there is no cure or treatment for some of the types, and we don't know which one Quinn has. Well forget that, we were on the computer all weekend. From the beginning, I prayed, please don't let it be type 3.  However, the more I studied, I knew that was the type Quinn had. Sadly he was one in 114,000 live births with this disorder. He has Sanfilippo Syndrome, Type A. This type of Sanfilippo affects the brain with no treatment and the shortest survival rate. Quinn is missing an enzyme that breaks down the waste in our body. Since he is missing this enzyme, the wastes build up in his central nervous system, bones, joints, and vital organs. Quinn's started in his ears with the hearing loss and is quickly moving throughout his little body.

What are his limitations?
Quinn requires full care 24/7.  He can't dress himself, feed himself, or follow simple directions. He watches a lot of television, because this makes him happy. He use to play with toys, now he just beats them. Every once in a while, he will push a truck the correct way. He is 5, but is mentally on an 11 month level. Sadly, this test was a year ago, so I am sure he may be more like 7 or 9 month level now. He will get to a vegetative state. Most of the time this happens by the age of 11, but since it affects the nervous system each child is affected differently.

On a daily basis, what is the most challenging part of caring for him?
He can't tell me what he wants. He gets frustrated, and so do I. He would love to just run and run and run. Thankfully and sadly, he falls a lot, therefore,  I am able to catch him.

What are the most difficult things you deal with in regards to his disability?
He is going to die. I pray daily he just doesn't suffer too much. No, really to answer the question, it's watching him slip away. Some days it's like he knows what he wants to say.  His little lips move and nothing comes out. Some days he is here more than other days. That is hard knowing all the things he was able to do at one time. 

Are there more good days, or more bad days?
Quinn doesn't sleep much. At night, it seems as if his brain can't settle down. However, any day he wakes up is a good day. So many children die in their sleep. Some days he is happy, and other days he cries alot.  Sadly, I never have any idea what the problem is.

Do you have a good support system?
Yes, I have a wonderful support system. My husband allowed me to stop teaching in order to care for Quinn.  Also, mentally, I couldn't handle teaching with all the stress of my son dying. My parents and in-laws help out. Quinn does better at home, therefore, we are sadly learning to leave him there more.

Has your situation affected other relationships in your life?
In some ways I would say yes.  Some people just don't know what to say. I will say that you find out who your true friends are for sure.

What do you do for enjoyment?
I am still working on that. Maybe Facebook because I can connect with other parents of children with this disease. I don't know of any children in Mississippi that have Sanfilippo.

What is your favorite attribute about your son?
Quinn has touched so many lives.
He is my little hero!!

What is it about your life as a caregiver that you want others to know?
It's not an easy job, or one I picked for sure. I always say, this is the life that chose me. I also know that my future will be much harder.

How has being a caregiver changed you?
It has made me a stronger person. This is not the life, job, or anything I wanted. I will never be happy with this life journey, but I am learning daily to accept it.

Have you learned anything about yourself?
I am stronger than I ever thought I could be. I have cried more tears than I thought possible. But I am out of bed today, so I am proud. I am learning to enjoy this life. I will never like it, but I am learning to be happy.

What advice can you offer others who are in your situation, whether suffering with MPS or other life-threatening illnesses?
The first year I prayed for this not to be true and for a miracle.  I never prayed for a cure with Quinn because a cure means death. The second year I have prayed just to let the tears and sadness go away, so that I will be able to enjoy Quinn. Also, to learn how to stop wishing for what will never be. Oh how hard that is!!!  Quinn's disease is rare.  People do not understand it. That will always be hard. Quinn looks healthy, but his brain is not because of all the buildup of waste the body can't break down.  We don't have hospital stays; there is no treatment, or anything that can be done. Doctors have no idea what to do.  Some days I would love a time line of how long we have, but this disease affects each child so differently we have no idea.  Quinn never developed cognitively or physically as much as other children have, so does that mean a wheelchair sooner or later?  I wish I could tell you.  All I know for certain is, Quinn is my blessing. I hope and pray one day there will be a treatment for kids like Quinn.  A cure would be even better.  But right now I am just living the best way I know how. There are no rule books with MPS.  I do know that it's a long hard road, but God picked my family to walk it.  We are traveling this journey the best we know how.

2 comments:

  1. That is so sweet!!! Suzanne, you have come such a long way from the shy young woman you once were!!! I pray for Quinn and you, and all of your family. You all are such a blessing to us. I pray for your family's happiness and God's richest blessings on you- "One Day at a Time!"

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  2. New follower. Found you through the MS Blogger MOM's! Hope you will hop over and follow along with me as well.

    Merry Christmas,
    Julie @ Hey Mommy, Chocolate Milk
    www.heymommychocolatemilk.blogspot.com

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