The Trials of the Year

Preston was put into the hospital for a strep infection that somehow got into his blood from 9/30 to 10/2.   The funny thing is that the nurse told me that Preston probably just had a virus and it was pointless to bring him into the doctors office.  When i did bring him in to the office anyways he had a fever of 105 and that was on Tylenol so the doctor sent us to the hospital.  It was scary but i felt good that he was there and they could figure out what was wrong.  Anyways while in the hospital he got better quickly on the IV antibiotics. He is a tough guy.  However, while we were at the hospital the doctors discovered Preston had some labs that were quite high.  They had us redo the labs a week after he was released to see if the labs were related to the illness.  

This was a couple hours before i took him to the doctor and then the hospital. He wouldn't get off the couch...i just knew it wasn't a virus! Stupid nurse!

This is about an hour after Preston was admitted. He was very happy that Daddy  finally made it to the hospital with  his puppy. ;-)

 The labs weren't any lower so his comprehensive metabolic panel was run every week including some other various labs.  The doctors thought he had hepatitis but he didn't have hep A B or C. Soo Preston's pediatrician recommended we see a gastroenterologist but we couldn't get him into this specialist till November.  Sadly.  When we finally saw the gastroenterologist he had a few more labs done to make sure it was actually affecting the liver.  The lab that measures CK came back super high indicating it wasn't the liver at all it was his skeletal muscles.  All that wait and the specialist couldn't do anything now.  The gastroenterologist was trying to figure out which doctor to send Preston too. It was actually the gastroenterologist's nurse, she was great!

She said we should see a physiatrist (they specialize in physical science and rehab...i hadn't ever heard of one before) but all of them were up at Primary Children's and didn't have any openings till January and at this time it was the beginning of November!  The nurse told us about an adult physiatrist in Orem by the name of Stewert King who was really good and that i should see if he take a look at Preston.  When i called Dr. King's office the secretary said that he couldn't help Preston but would be willing to look him over and make recommendations on what to do....that same day! YAY! Of course i took him that day!  Dr. King was great and very kind.  He said that Preston's CK number of 81,000 was the highest he had ever seen!  He thought it was too high for muscular dystrophy as did our regular pediatrician Dr. Clayton.  Dr. King said that he had connections at Primary Children's Hospital and the University of Utah so he could find the right doctor to take him too.  Dr. King's office called and said that they found a pediatric neurologist who specializes in nuromuscular diseases and that he would see Preston the Friday before Thanksgiving. It was such a blessing to not have to wait til January!

When it came time to take Preston to see the nuromuscular doctor we all went...Davin, my mom, and me.  The doctor was pleasant but to the point.  After looking Preston over he told us that even though his CK was super high he still said that everything else pointed to Duchene Muscular Dystrophy, which is what we were dreading.  Duchene MD is the most common form of MD but also the worst form. The doctor ordered a muscle biopsy to confirm the diagnosis.  Basically DMD is a genetic disorder that makes the skeletal muscles deteriorate till Preston no longer has strength to move his body and is fully dependent on others.  He will probably need braces to help him walk in the next few years and between the age of 10 to 12 he will be in a wheelchair full time, by the age of 18 he will be fully dependent on others to care for him.  Currently, most do not live past the age of 25.

This news, as you can imagine, is has been quite devastating.  We cried a lot and grieved for the life Preston will not have.  We have been told that we will grieve many times throughout his life and that is normal.  It is amazing how many plans we make for our children even when they are so young.  We want them to graduate high school, go to college, fall in love, get married, have a family of their own...those are just basic expectations...and when some of those most likely will not happen...it is extremely difficult.  We felt mad and sad thinking of how his life is now going to be....will he have friends? will he graduate? will he get mad/sad about his disorder? will he have a girlfriend? will he go to prom? will he be social? will he continue to smile? ......I have found that thinking ahead to the struggles he will have does him no good right now it just makes us sad.  Also that living day to day and enjoying the little things, the everyday things are all that matter right now.  We have the faith that Heavenly Father will help us raise Preston and help him through his struggles.  I believe the biggest comfort and peace i have received throughout this tough time is the belief that Preston is a very special spirit and means a lot to Heavenly Father.  That Heavenly Father only gives these challenges to people who are strong and capable of handling these trials.  Preston must not need as much time on this earth to learn all the things he needs to learn as the rest of us.  I am so grateful that Preston is a part of our family and that Heavenly Father trusts Davin and I enough to give Preston to us. He is such a sweet guy and brings so much joy to our lives. I can't imagine life without him.

Preston did great for his muscle biopsy on December 7th at Primary Children's Hospital, up in Salt Lake City.  He took a while to wake up and did throw up 3 times on the way home but he wasn't crabby or sad...so we were happy.  He is such a tough guy too because he didn't even need the strong pain meds just come Advil and he acted like it was no big deal having 2 pieces of muscle cut out of his thigh. yikes! Also the doctor had us leave a piece of tap over the wound so he would leave the stitches alone for 12 days!  The stitches themselves were the dissolving kind, thankfully, so we won't have to take him back to have them removed.  We got to take the tape off today and i felt bad because there were still 2 pieces of the stitches hanging out either side so when i went to rip the tape off it got stuck...Preston didn't cry but he sure had a concerned look on his face when i tried to pull the tape off.  Davin grabbed some scissors real quick and cut the long pieces of the stitches off.  Preston is all better now! It was about a 1 and a half inch incision...in case you were wondering.

Needless to say we recently got the muscle biopsy results...he does have Duchene Muscular Dystrophy.  Now we are just waiting for Preston's insurance to approve genetic testing for Preston. When the doctors know exactly where Preston's mutation is then they can determine if there is a gene therapy/treatment that can slow the progression of muscle deterioration.  These therapies are all new, there is no "cure" for MD as of now but there are many researchers working on treatments.  We remain hopeful.  I will also need genetic testing done to see if i am a carrier for Duchene Muscular Dystrophy since women are the carriers unless it is a random mutation.  If i am a carrier then our daughter will have a 50/50 chance of being a carrier too.  Also if i am a carrier and we have another boy he will have a 50/50 chance of having DMD.  But i am getting ahead of myself...we will just have to wait and see how everything plays out with Preston's genetic test and mine.  As for now we just have to wait...which sometimes can be the hardest thing!