Sunday, December 23, 2018

A New Spin on the Future

Twenty three years ago, we began a journey that no parent ever wants to take.  We were concerned because our 16 month old son was still not walking.  At eleven months he was standing at the edge of furniture and trying so hard to take that first precious step.  That first step never happened.  Shortly before he turned a year old, all attempts to stand stopped.  He had an ear infection and he just couldn't seem to get past it.  We spent the next four months trying to find out what was going on.  It took three doctors in two different states to pin down why he wasn't walking.  At 16 months we took him to Riley Hospital in Indianapolis to figure out. exactly what the problem was.  It took us two more months to get a name for the problem.

One afternoon we got a call from one of the doctors in Indianapolis, asking us to please come to Indianapolis to get the results of all of the tests that had been run.  The wouldn't tell us anything over the phone.  That is never a good sign.  We drove the two hours from our home in Marshall Illinois to Indianapolis.  The doctor asked us into his office.  He told us, your son has Spinal Muscular Atrophy.  We had never heard those three words.  He explained that it is incredibly rare and that most family physicians will never encounter a case of SMA in their entire careers.  He said that he saw about 6 cases a year.  It was genetic, and both David and I had to be carriers of a defective gene.  Not only that, but we had a 25% chance of any future children having the same condition.

We would later learn that the gene that caused SMA had just been identified.  It was a defect on gene 5.  This defect causes a disruption of the path of nerves that send messages throughout the body.  There was no cure for this condition and no treatment.  Our son would never walk and would not likely live to adulthood.  The doctor told us that there was a great deal of research going on in this rare condition and in a couple years there would be a cure.  We were very fortunate.

Those of you who know me well, know that I take things by the horns and work for the best possible outcome.  I am not satisfied being a statistic and I will not accept there is nothing we can do for an answer.  I set out to find the best doctors and best therapists for my son.

Fast forward to December of 2016.  I had known for a while that a new treatment was being tested for people with SMA.  It was currently being tested in babies and young kids with Spinal Muscular Atrophy, mostly type 1s with the severest form of the disease.  This type is fatal and without a great deal of intervention, these babies die before their second birthday, usually shortly after being diagnosed.  Adam was a type 2 or Intermediate Spinal Muscular Atrophy.  He was too old for any of the trials.  I was carefully watching the research and the projected timeline.  Even though we hadn't seen a neurologist in years, I made an appointment, knowing that this was our key to any chance of getting the new drug.  In December 2016 the FDA shocked everyone by approving the new drug that would be called Spinraza for all types of SMA, not just the kids with Type 1.

Within days, I had a phone call into Biogen to find out how I could get this drug for Adam.  On January 11, 2017 we met with the neurologist to find out how we could get this drug.  The doctors had been caught off guard and had no plan in place for treating adults with SMA.  They assured me that I would be contacted when they were ready to begin treating.  Months went by and we still hadn't heard anything.  In July, we went back for a follow up appointment.  The doctor said those wonderful magic words, Lets do this Spinraza thing!  He started scheduling Adam for a long list of tests in preparation for the procedure to administer Spinraza.  In addition to getting all of the pre-tests down, we had to get insurance approval.

It took us another 8 months to find out that both forms of insurance refused to pay huge per dose cost of this medicine.  Fortunately, Biogen has a program to donate the drug to people who aren't able to get their insurance to cover the four loading doses that have to happen in the first 60 days.  After receiving the call from our Biogen representative about the donation, we thought we were ready to go and I waited anxiously for the date of our first dose.

It would take me another month of testing and two more trips to Chicago to finally get our dates.  April 20th, Adam will receive the first dose of Spinraza via a lumbar puncture at Northwestern Memorial Hospital.

I find it ironic that it has taken 16 months to get this for Adam.  The exact amount of time it took us to discover why he wan't walking.  It is even the same month 23 years later.

There is very little known about how Spinraza will work in adults.  Remember, we were told that Adam would not live to adulthood.  There are not a huge amount of adults to use for the trials so it didn't happen.  Biogen says that Spinraza will stop the progression of SMA.  That is the goal of the medicine.  Other people have experienced an increase in strength after receiving the medication.  It is not the intended goal, but is a bonus if it happens.

On April 20th, we begin a new leg of this journey.  This time the journey is filled with hope.  Only God knows how Adam's body will react to Spinraza.  We are looking forward to seeing how Adam's future will be impacted.  The cost of this drug is huge, but for us, hope is priceless!




Can I Pray For You?

Let me just start by saying, I believe in the power of prayer.  The ability to have a conversation with the all knowing God of the universe is just so mind blowing.  Our family is a praying, church going family.  Over the years we have been desperate need of prayers.  There have been times when the stress was so overwhelming and the situation so scary that I didn't even have the ability to utter more than a simple, God please help!  In that time, we needed our friends to come before God on our behalf.

There have been times that people have offered to pray for us.  I need those prayers.  Our family needs those prayers.  The one thing that makes both Adam and I very uncomfortable is when a strange walks up and asks to pray for us, or specifically Adam.  I know their intention is good, and they think they are helping.  There is only one problem.  They don't know our situation.  They don't know our specific needs.  They take their view of the situation and pray for what they think is important.

One time, a lady came up to us and asked to pray for Adam.  I asked Adam if it was okay.  He said yes.  She prayed that he would be healed and that he would walk.  She then proceeded to tell Adam that if he believed and had faith that he would be healed and would walk.  She knew nothing about our family or our faith.  She didn't even know if it was important to Adam to be able to walk.  She was praying for what SHE thought was important and didn't give one second of thought to what our needs were.

Early this year, we were waiting for my son to receive treatment for his condition at Northwestern Hospital in Chicago.  He was supposed to have his procedure at 10:30 am and we had been there since 7:30 am since we had to arrive two hours early for lab work.  We got a phone call from the staff at Northwestern saying that they had a critical situation that needed the room that they used for Adam's procedure.  He would be delayed by at least two hours.  I called my mom to let her know that we were delayed since she is hours away and worries.  She said, "I will pray that you don't have to wait much longer."  I yelled NO!  They are trying to save someone's life in there and we can wait.  We ended up having to wait 7 hours for Adam's procedure.  The person they were working on had a stroke and they did the best they could to save his life.  It was very likely that his family was sitting in the same waiting area with us while we waited for Adam's turn.

Recently, a lady sitting beside us at church asked if she could pray for Adam.  I said, you can always pray for him.  I was hoping to deflect her from praying out loud for him.  She waited until the end of the service and again asked to pray for him.  I told her that she could pray for protection from viruses like colds and flus that are so very dangerous to Adam.  She was a little put off that I was telling her what to pray.  Fortunately, her daughter intervened and told her not to be so pushy.  She then asked his name and said that she was going to remember to pray for him.  I thanked her.  Its not that I don't appreciate her prayers, but again she is praying for what she wants, rather than what we truly need.

If you feel compelled to pray for someone that you don't know, please keep a few things in mind.

1.  What does the person REALLY need prayer for?  Ask them!
In our case, we need prayers for protection from illness, insurance to cooperate rather than fighting us over medical necessity, protection from financial hardship, and strength and endurance for David and I.
2.  Consider that praying out loud may embarrass the other person.
Adam doesn't like to be the center of attention.  Having someone pray out loud makes him very uncomfortable.  He may not want you to point out his weaknesses to others nearby as well.
3.  Check before laying hands on someone.
Adam and his pulmonologist have made a deal.  Adam doesn't want to get a flu shot since he is greatly afraid of needles.  He has to have a lot of blood work and getting Spinraza requires a very long needle into his spine.  That is all the needles he can deal with.  As a result, Adam has to promise his pulmonologist not to shake hands or touch other people when we are out during cold and flu season.  The person you shook hands with 10 minutes ago, may have had a cold and just wiped their nose with the same hand you shook with.  By touching Adam, you could potentially spread cold germs to him.  Getting a cold can and has nearly turned fatal for Adam several times.  We take precautions when touching Adam to keep him safe.  As for me, sometimes touch feels bad to me.  Sudden touch startles me.  I really don't want to be touched by strangers.  As Adam's primary caregiver, I have to keep myself from getting sick as well.  So before you touch someone to lay hands on them, ask first.
4.  Finally, be aware that what you perceive as a hardship or struggle, may not be as big of problem as you think to the person you are wanting to pray for.
Adam doesn't mind using a wheelchair.  Walking isn't on his list of priorities.  He is perfectly happy getting around in his wheelchair.
Adam doesn't want to get rid of his vent.  His vent helps him feel his best.  It helps him have the energy to do all of the things that he wants to do.  Breathing is hard work for someone with Spinal Muscular Atrophy and using a ventilator gives him the energy to do other things.
Adam also feels that God has a purpose for his life and that he wants to wait patiently while God reveals his purpose for him.  He also doesn't want others to lose faith in their prayers  when God doesn't instantly make him walk.  If and when God decides that Adam should walk, they Adam wants to build up people's faith, not decrease it because they wanted to rush things.

In summary, we love to have people pray for our family.  Those prayers mean so much to us, but please consider our needs, not the needs you think we need.  If you want to know specific things to pray for, please ask or reach out by email, personal message or text.  We are happy to let you know what we need prayer for.
Blessings and love...