The Race Against Time

We received the genetics results last week.  Will still has Leigh Syndrome.. We now know what part of the DNA has caused this.  Will has a Surf 1 Complex IV deficiency.  This affects his respiratory chain.  Not good. Will already has lesions in his basal ganglia AND in the lower brain stem. The neurologist told us that the average life expectancy is 5.4 years.  Will is just over 2 and a half years.  This is not acceptable.  My child deserves a life, a very long life.  Every day I think to myself, why him?  Why not me?  My heart aches so badly for my sweet boy.   Will right now is doing good, he has his moments, but all in all he is still the happy boy that I love so dearly.  We continue to fight for our little boy every single day.  In about two weeks we are making a trip to Houston to meet with another neurologist who specializes in Leigh Syndrome.  In fact, she has the only Leigh Syndrome clinic in the nation.  We are hoping she will give us a better understanding and what to expect with Will's diagnosis.  

There is a 25% chance that Lauren could have Leigh Syndrome.  The doctor will be contacting the genetics lab to see if they suggest that we have Lauren tested right now.  He explained that the testing is extremely expensive and sometimes the lab will test siblings for free.  I should hear back next week about the testing for her.

One day at a time, right?  I try and tell myself this everyday.  Enjoy every minute that we have with each other.  Time goes by too quickly.. Only if I could freeze time………. 

I love this picture of Will!  

Doug and Lauren, My favorite of Daddy & Daughter!

 

Feeding tube, physical therapy and Doctors appointments

I apologize once again for the late update on Will. I really need to find time to update on a regular basis. The days seem to go quickly around here.  Will is doing well at the moment.  He was tolerating his feedings great for the first two weeks or so.  Then after almost every feeding he would vomit.. the whole feeding up.. I emailed his doctor and she ordered an X-ray.  It turns out that Will had a lot of air pockets and constipation in his abdomen.  Simple fix, hopefully.  He is now on Miralax and gas drops.  It took about 5 days to get him back tolerating his normal feedings.  So far things are going good.  Poor Will,  developed a granulation (skin growth) around his button… Can't this baby catch a break!  Will is still very protective over his button which makes cleaning and applying medication to the granulation very, very difficult. The granulation should dissolve in a few weeks.

  

Will started his twice a week physical therapy today.  He tired fast, but he seemed to enjoy it! He worked on climbing stairs and using his tip toes.  He even got to ride a special bike, which he loved!

We met with his neurologist right before the 4th of July.  We were expecting all of the genetic results to be back from the labs.  Unfortunately they were not.  We received half of the results.  We should receive the rest of the results any day now.  However, there is a possibility that the blood genetics may come back inconclusive.  We have elected for Will to have a muscle biopsy if that happens. I will post an update on the genetic results once all the results are in. As I was preparing for this meeting I had re read Will's MRI report, in the hospital the doctors told us that Will had bilateral lesions (necrosis) in the basal ganglia.  The doctors showed us the MRI and the lesions in the basal ganglia.  However, when I read the report, it said necrosis in the basal ganglia and brain stem.  I was in shock!  I still am in shock!  How could the doctors forget to tell us.   He showed us the MRI images and sure enough.. there they were…in the brain stem.  

We meet with a neurologist in Houston in about a month.  We are very excited to be meeting with her.  She has the only Leigh's clinic in the country.  I have heard great things about her.  We are hoping she can give us a better understanding of this disease.  Since this syndrome is so rare not many doctors know much about it.  It will be great to hear what she has to say.

I am still in a state of shock that my baby has Leigh Syndrome.  Our lives are completely different than they were only three months ago.  I still cry, everyday.  I am hoping with time I will come to terms with his diagnosis.  I have hope and pray for a miracle.  I enjoy every single moment I have with my son.  

On another note, baby Lauren is doing great!  She is growing so fast.  She has her four month well visit and shots tomorrow. She is almost rolling and is smiling and "talking" constantly! 

As always, thank you to everyone for your continued love and support and prayers! 

Will-First day of PT

Lauren Loves Will

Will and Lauren playing

Will's Feedings

Sorry about the late update on Will's g-tube feedings.  Will has a mic key button right above his belly button on the left side of his stomach.  He has tolerated his feedings pretty well.  He is almost up to his goal of 1100 calories a day.  His energy level has even increased a bit!  We have a backpack for 'feedings on the go' but we haven't used it yet.  About 4 days post surgery we had a trip to the ER.. As I was putting Will down for his nap the tubing got caught on the IV pole and sure enough the entire mic key button and balloon came out.  I was terrified!  The surgery team in the ER put it back in.  After a quick X-ray we were sent on our way.  Will is sensitive around the opening of the button.  I hope that heals quickly.  Thank you all for keeping Will in your prayers.  We really appreciate all the support we have received in the past couple of months.  May God bless you all.

G-Tube Update

Will's feeding tube surgery was this past Thursday.  The surgery went well.. Will was a trooper!  The surgery took about an hour. Will was sent to the PICU unit for extra care after surgery. There were only 2 other children in the unit, so Will got extra special care!  He stayed in the PICU overnight, on Friday afternoon he was transferred to the acute care unit and spent one more night in the hospital.  He is still very sore, but seems to be in good spirits.  We have a pediatric home health nurse that will help us out getting comfortable with his G-tube feedings.  Will's caloric intake will be about 1100 calories… we should see a big change in his weight and he may even grow a few inches!  Thank you all for your prayers!  

Will showing his tummy before surgery.

Will resting after surgery.  He is puffy from all of the IV fluids before, during and after surgery.

Surgery Date

Will's PEG surgery is scheduled for next Thursday.  He has been on a medical grade food supplement  for about 5 days and has gained a half pound!  I am so proud of him.  His solid food intake is basically, well, limited.  He may have one or two goldfish crackers or half a pack of fruit snacks in a day.  It's going to be difficult to see him with the feeding tube.. it will be a harsh reminder of this terrible disease.  If it can help him though become stronger then we are all for it.  My poor sweet boy.  My mom and sister will be here to help.  They are my support system.  Without them I am not sure what I would do.  

We met with the occupational therapist yesterday.  She gave Will a series of tests to check his developmental skills.  I am happy to say that he is above average on most skills.  However, she is very concerned about his hypotonic and weak state.  His hands and upper body were trembling.  I think it was partly because he was nervous.  He still can't properly throw or kick a ball.  He just doesn't have the strength.  He had fun though trying!  We meet with the physical therapist next week.   He is such a happy boy and I am so happy to be his momma!  I love him with all my heart and more.  

Will and Lauren (3 months)

Feeding Tube

We met with Will's pediatrician, she and the neurologist agree that Will should have a feeding tube. At first, I thought he didn't need one.  I would just work harder on trying to get him to eat.  The problem is with Leigh's Syndrome most of the children do not have an appetite.  We have already tried appetite stimulants (periactin) with no luck.  I know that he will do much better with a tube.  The stress of me trying to get him to eat everyday, stressing over if he got enough calories for the day or not will be gone.  I will know exactly how much nutrition he is receiving.  He will still be able to eat by mouth. All of that food will be extra calories.

Next Thursday we meet with the pediatric surgeon and schedule a  surgery date for the feeding tube. I have showed him some pictures on the computer of children with "buttons" in their bellies to help them eat.  He seems to understand.  He is such a brave little boy.

Paging Dr. Will

While I was pregnant with Lauren, Will attended almost every single prenatal appointment with me.  He really enjoyed listening to Lauren's heartbeat.. or heart beep as he would say. He would love to see her on the sonogram.  My obstetrician is very special to me.  He took great care of me while I was pregnant with Will.  I had hyperemesis and was in and out of the hospital during the first and second trimesters.  Needless to say, I was always at the doctors office.  My pregnancy with Lauren was better. I was sick but not nearly as bad as I was with Will.  After my prenatal appointments with Lauren Will would say, "Momma, I want to be a doctor".  I would smile and say that's great, one day you can be my doctor!  I hope and pray that his dream comes true!

This build a bear is from some of the students from my mom's class. Thank You so much!!  Will loves the Dr. Will bear and sleeps with him every night!

My Heart Aches...

My heart aches for my sweet little boy.  I look at his big blue eyes everyday and see such a strong boy. He has no idea that he has a terminal illness.  He doesn't understand when his legs won't move, or that he doesn't have enough energy to play, but what he does have is a brilliant mind!  His memory is sharp. I pray to God every night that a cure comes fast. I do not want my baby to lose his mind and memory.  

This past weekend and the latter part of last week he had a few episodes… He is recovering now.. His hands are still shaky and he is tired.  I am trying to keep his life stress free, no over stimulation.  It seems that could be one of his triggers. I meet with the pediatrician tomorrow morning regarding the feeding tube.  Will's appetite has been extremely low the past few weeks. He needs nutrition to provide energy for his body.  

Every night after the kids go to bed, I lay in bed and cry. I pray that I am having a nightmare and beg to be woken up.  Then I realize this is my new reality. I know I have to be strong but the pain in my heart is so intense it feels as though my chest is collapsing.  I am a fighter, Will is an even stronger fighter.  We will not let this disease take him. I hate you Leigh's Disease. You can go to hell where you belong.

The News.

Dear Family and Friends,

On Friday April 25, Will and I were having a great day.  Will was his usual happy self.  We went shopping for fruit that morning and had a picnic in the front yard.  Things were going great, that is until he had one of his episodes.  Episodes you ask… six months ago, it all started.  Will would be playing then all of the sudden just fall. He had no use of his legs and his hands would tremble.  We would try to stand him up but, he would just fall.  The first time this happened it scared Doug and I so bad that we rushed him to the ER. Unfortunately, I was pregnant at the time and the emergency room was packed, it was flu season. By the time we reached the hospital Will was walking just fine and back to his normal self, just a little bit crankier.  His two year check up would be in a couple of weeks, so I thought I would bring it up to his pediatrician. The pediatrician thought maybe he was just tired since it happened close to bed time.  In my heart I knew something was wrong.  I wanted to believe her.  Fast forward a few more episodes later and we were back at the pediatricians office.  This time she sent us to a Neurologist.  The Neurologist ordered an EEG, which is used to check the brain for seizures.  This test came back normal.  We were relieved.  Well, needless to say the episodes happened a few more times after that.  This time happening during the afternoon and not evening like they had before.  Like I said before, in my heart I knew something wasn't right.

Back to Friday April 25, Will was having the time of his life singing with a stick (as a microphone) that he found while we were having our picnic.  All of the sudden it happened... he fell and couldn't move.  I immediately called Doug and told him to come home from work to watch Lauren so that I could take Will to the hospital and hopefully, once and for all, figure out what was going on.  Once Will and I arrived at the hospital we were brought back to a triage room pretty quickly.  The ER doctor ordered a CT scan.  About 2 hours later we had the results.  The doctor said the radiologist found 2 spots on his brain.  She was very vague and said that he would have to be transported to the downtown hospital which has a Neurology floor.  At that point Doug and Lauren were with Will and I.  It was getting late so we decided Doug would ride with Will in the ambulance and I would take Lauren home and meet them in the morning downtown.  That night I was a wreck.. My baby boy who I had spent EVERY single night with up until I gave birth to Lauren 8 weeks prior and had to stay 3 nights in the hospital would be apart from me again.  After Lauren went to bed I sat up and cried and prayed that my boy would be okay.  I think I got a total of one hour sleep.  At 6am I left for the hospital...I couldn't get there quick enough!  As soon as I walked in Will's room, doctors were coming in and out asking questions and poking and prodding Will.  The neurologist told us that they needed a more detailed picture of Will's brain which would require an MRI.  Since Will is only 2 years old he would have to be put under anesthesia.  I was so scared for my little boy.. I held him until they gave him the sedative, then they took him back…

As we waited for the MRI I prayed that my baby boy would be just fine.  Little did I know we were about to receive the worst news of our life.

After the MRI was finished about 2 hours later a group of pediatric neurologists walk in to Will's hospital room and ask to speak privately to Doug and I.  At that moment I knew my life would never be the same.

April 26, 2014 - the worst day of my life so far.  Doug and I followed the doctors to an empty hospital room with 4 chairs set up in a semi circle around a couch.  Doug and I sat on the couch the doctors in the chairs.  The first words out of the doctors mouth was that the spots originally found during the CT scan were actually lesions within Will's brain.  At that point I got up and grabbed some tissue.  She continued by saying Will has a Mitochondria disease, specifically Leigh's Syndrome.  What??  I had never heard of this.. What can we do?  What's the cure?  I asked.  She paused and said, There is currently no cure and it is terminal.  At that point, I felt like there was no air in the room, I couldn't breathe.. I was crying, I was dizzy, I felt like I needed to vomit.  I then asked how long do we have with Will.  She quietly said 10 years max.  She explained in Leigh's Syndrome, defective mitochondria result in a lack of energy being provided to cells in a particular area of the brain that plays a role in motor movements.  The symptoms start as lack of appetite, slow growth, and generally low energy, but as the disease progresses it leads to failure in critical systems of the body.. heart, lungs, brain function.  Pictures of Will flashed through my mind… How could this be.. My little boy who has NEVER been on one antibiotic is now terminally ill?  This is a nightmare... maybe I am dreaming I thought.  Everything else the doctors said from that point on was a blur.  I just wanted to hold my baby and never let go.  

Will stayed a few more nights in the hospital after his diagnosis. He had another EEG performed, an EKG, lumbar puncture and countless blood draws.  He was such a brave little boy during his stay.  I look at him and I see a fighter and strong boy who wants to live.

Leigh's syndrome has no cure. It's often called the "invisible disease" looking at Will you would never know that he is fighting for his life with a terminal illness. He is on a "Mito Cocktail" of vitamins that will hopefully slow down the progression of this terrible disease.  We can only have hope and pray that one day hopefully soon there will be a cure.

We are currently waiting for the Genetic blood test results to come back.  These tests will tell us what mutation of Leigh's Syndrome Will has and should let us know if Lauren could have this disease as well.  Please keep them both in your prayers. 

God Bless, 

Kasey