The First Week After the Test Results

So, this past week has been crazy!  Lots of ups and downs.  A lot more downs than ups, unfortunately, but we made it through them. 

After leaving Ann Arbor on Friday, we picked up the kids from my parent's house.  We then went to pick up Bella's script.  We wanted to start her on the Albuterol as soon as possible.  We went to dinner with my parents and brother and explained everything to them.  As I sit here trying to remember what happened, the last week seems to be a haze. 

We started Bella on the Albuterol the next day, which happened to be St Patty's Day.  We went to Tony's parent's house so they could see the kids and to also talk with them about what we had learned the day before.  It seems to be getting easier to explain things, the more I do it.  I try to not add emotion to the information anymore, just try to stick to the facts.  This seems to make it a lot easier for me to talk about.

Each day is really hard to get through.  When the kids are sleeping or just quiet, it is hard not to let your mind wonder.  Of course, when the mind starts wondering, it normally goes in the negative direction.  So, all of this is going on with Bella, and then we have to go to our primary doctor to get our physical results on Monday.  With everything that has been going on, I decided Tony and I finally needed to pick a doctor.  So, we had physicals done two weeks ago and went back in for the results.  Of course there had to be negative news at this appointment also.  I have to see a surgeon this coming week because the abdominal ultrasound found gall stones in my gall bladder.  It was explained that if the gall bladder becomes blocked then it could cause pancreatitis and potentially death.  Awesome!  Lets have some more good news!  The week is getting harder and harder to get through.


Bella had her normal therapy, but a lot of therapy wasn't done.  We mostly talked to Stacey about the doctor's appointment and SMA.  We set up an appointment to meet in Bridgeport so Bella can test drive wheel chairs.  She thinks Bella will pick up how to drive it in less than 30 minutes.  It is kind of scary to think about Bella in a motorized wheel chair.  However, Stacey informed us that we could set the speed on the chair and they also come with a remote kill switch. 

Bella asked that Tony take her to school this week, so while they went to school, Hayden and I went to his 4 month well visit.  She had a good time with her daddy at school.  It isn't very often he isn't working on school days, so they got to spend time together.  Hayden had a good well visit, so at least this day was full of positive.  He is a solid boy, weighing in at 18 lbs 3oz. 

This past week we also spoke with Jackie.  She is in charge of the clinical trial in New York.  We spoke to her on the phone about the trial.  We would have to fly to New York for a consultation and then 8 days later fly back to start the trial.  The drug is given through a spinal and then Bella would be monitored for 24 hours.  She would then have to go back to the hospital for tests a week later.  She would then need to be seen again on day 28.  All expenses would be paid if we do the trial.  They would pay for our flights, lodging, food, and medical bills.  They just need Bella's evaluations from Dr Dowling and the pulmonologist to make sure she is healthy enough to go through the trial.  Jackie said she would reserve a spot for her in either the May or June trial, depending on when all the paperwork got to her.  That same day we found out that Bella is going to be seeing the Pulmonologist this coming week.  Back to Ann Arbor we go!

Tony and I needed a little time to not think about things, so we decided to go to the movies today.  Grandma and Grandpa Perge babysat the kids and Tony and I went to see The Hunger Games.  Between a free combo and a gift card, it was only $2.  Pretty good, I would say.  I enjoyed the movie.  The book was better, but the movie did a fairly good job with the details.  It was nice to have a couple of hours of not thinking about things.

So, this past week was pretty busy and as you can probably tell by my post a little crazy and all over the place.  This coming week isn't going to be any slower between doctor's appointments for Tony, Bella and I, therapy, Tony's changed work schedule, Bella's spring concert for school and test driving wheel chairs.  At least when I am super busy, my mind doesn't wonder.

Ann Arbor Consultation Continued

I can't believe it has been over a week since my last post.  It has been a little crazy around here trying to wrap our heads around all the new information.  However, I finally have a couple of free minutes while both kids are asleep and Tony working.

So, as you may recall, the first people we saw at the hospital went over Bella's test results and other basic information about SMA.  We were then joined by the team PT, Betsy, and Dr Hornyak.  They were both there to answer any questions we might have.  The one question we had was whether or not we could potty train Bella.  Was there a point in trying?  Would she even be able to have control over that?  We were informed that most of their other patients with SMA have control and it would not be a waste of time to potty train her.  If for some reason she lost the capability to control urination, she would have a cath, but that isn't something we should have to worry about any time soon.  Dr Hornyak also gave us the signed paper for a perminate handycap sticker.  Who knew that perminate only means 4 years in the eyes of the State of Michigan?  We asked about more therapy and a motorized wheel chair.  We were told that there wasn't any need for more therapy at this time.  Bella can't build muscle, so the therapy needs to teach her how to do as much as possible on her own and to learn her limitations.  The wheel chair they don't want to order until she is 3.  They said the insurance companies don't normally want to pay for a chair when a child is under the age of 3.  We didn't have any more questions at that time, so they left and we were joined by Dr Dowling.

Dr Dowling is such a matter of fact guy.  So far, he has left a very good impression on both of us.  He just came in to ask if we had any questions for him.  We asked for a script for the Albuterol.  He said he would have Bella try it for 6 months and then judge at that time whether or not she has shown any improvements while taking it.  He brought up the motorized wheel chair and said he would like to see her in one as soon as possible.  We brought up what Dr Hornyak had said about waiting until Bella was 3 to get one, but Dr Dowling said he would talk to him about that.  He said that it isn't proven, but children with SMA seem to be scary smart and can pick up things such as driving a wheel chair rather quickly.

Rosangel, the Clinical Coordinator, then came in.  She had information about one clinical trial that was currently happening at Columbia University in New York.  She said that if we were interested that she would contact the main person for the trial and give her our information.  Tony and I both agreed that we wanted her to give our information to the clinical trial.  Anything that could potentially help is of interest to us.

The SW, Jefferson, then came in.  He spoke to us about Children's Special Health Insurance.  He was going to start the paperwork for us that day and we would get the rest of the paperwork in the mail from the State in a couple of weeks.  This insurance will pay for everything that BCBS will not, which will be so helpful.  The price of the wheel chair alone is around $30,000, and kids normally out grow them every five years.

Colleen, the representative from the MDA, popped in to talk to us quickly.  She just had a little information to give us and put Bella on the MDA registry.  Apparently, SMA is included in the list of diseases covered under MDA.  She told us she would be sending more information in the mail for us to look over.

The last person we talked to that day was Kim, the Clinic Coordinator.  She is the person we would contact about pretty much anything.  She would be the one to set up future appointments with Dr Dowling.  She informed us that we would be getting a phone call from the Pulmonology group regarding Bella's first appointment.  We would be seeing them hopefully soon and we would need to come back to see Dr Dowling in six months.

When we left, Tony and I actually felt a little better.  Everyone was so nice to us and so very helpful.  It was a lot of information, but we didn't feel overwhelmed.  It was actually rather humurous the way everyone kept popping in to talk with us.  It is going to be a long road, but I feel like there are a lot of people that really care about Bella and are willing to do anything they can to help us get through this.

Our First Consultation

After a very long night of dealing with a sick Bella, a three month old Hayden, and racing minds, we headed out for our trip to Ann Arbor.  We dropped Bella and Hayden off at my dad's.  We were told by Kim not to bring the kids because the visit was going to be a lot of talking and they did not need to see Bella.  So, we dropped the kids off at Grandpa's and made the drive to Ann Arbor.

We have not had the best of luck with weather so far for our trips to the hospital.  The first time we had to go we had a blizzard the night before and the morning of the appointment.  The roads were horrible and we had to leave early to make sure we made it to our appointment on time.  Today, there wasn't any snow, but really thick fog.  It was crazy!  It was so dense and then it would completely clear for a couple of miles and then we would be in it again.  Here is hoping the weather isn't always so crappy for our trips to the U.

We arrived at the hospital about fifteen minutes early.  We checked in and then only had to wait about five minutes before being called back.  Tony, nor I, knew what to expect or what we would be getting from this visit.  We were put in a consultation room and joined by two of the women we were first introduced to at Bella's appoinment.  Come to find out, the one woman who asked all the questions during the first visit and went through most of the information today is a genetics student at U of M.  She is graduating in April.  I can't imagine beeing a student and having to sit down with parents to let them know there child has a genetic disease that is incurable and untreatable.  What a horrible job.  The other woman was the one who called us with the test results.  We were given a packet of information, a print off of a power point, and went through it.

She started the conversation off by discussing why the testing was done for Bella.  Most were reasons brought up by Tony and I, but a few were observed by Dr Dowling during the first appointment.  She then went on to discuss what SMA is.

Spinal Muscular Atrophy, SMA, affects the control of muscle movement.  It affects 1 in 10,000 live births and it is estimated that 1 in 37 people are carriers.  There are four types of SMA.  SMA type 1 shows muscle weakness from birth to six months.  These children normally die before the age of 2.  SMA type 2 shows muscle weakness after six months.  These children have a decreased life span, normally.  70% of these children are alive at the age of 25.  SMA type 3 shows muscle weakness after ten months.  They have a normal life span.  SMA type 4 shows muscle weakness sometime during adolescence to adulthood.  They also have a normal life span.  The doctor gave Bella a diagnosis of SMA type 2. 

We then were given a refresher course in Biology.  There are two types of genes that control and maintain motor neurons, SMN1 and SMN2.  SMA2, which is what Bella has, is caused by a deletion in the gene SMN1.  This gene is responsible for instructing the protein, SMN, which helps to maintain motor neurons.  A lack of this protein leads to motor neuron death.  Messages are not passed from teh brain to the muscles which leads to muscle weakness.  SMN2 can produce this protein, but on a much smaller scale.  A person can have anywhere between 0 and 5 copies of the SMN2 gene.  The more copies of the SMN2 gene a person has, the less severe the disease is, normally.

The actual results of Bella's genetic test were then given to us.  Her results show 0 working copies of SMN1 and 3 copies of SMN2.  These results are consistent with a diagnosis of SMA, classifying her as having SMA type 2.

Does everyone remember punnet squares from biology and anatomy and physiology?  We talked about them today, also, but were shown prettier graphics as opposed to just a plain old square.  SMA is inherited in an autosomal recessive manner, which means that both Tony and I  are likely carriers of a non-working SMN1 gene with a deletion.  Each one of our children have a 25% risk of being affected with SMA, a 50% chance of being an asymptomatic carrier, and a 25% chance of being a non-carrier.  Testing of the parents can be done to see if they are both carriers of this gene.  94% of the time both parents will have positive carrier results.  6% of the time only one parent will be a positive carrier and of those only 2% of the cases are a first time mutation of the genes.  It was recommended that we both get tested, but we declined it.  Not only is the test $670 per person, but we don't plan on having any more children.  Hayden will be tested only if he starts showing signs of decline or if a cure is found and it has to be administered before a certain age.

We then started to discuss the possibility of Bella's children having SMA.  If she has children with a non-carrier, none of her children will have SMA, but will all be carriers.  If she has children with a carrier, there is a 50/50 chance that her children will have SMA.

We then discussed what type of doctors and other medical personal would be involved in Bella's care.  She will be seeing a pulmonologist within the year to start monitoring her breathing.  We were also told about a trial involving Albuterol, which Tony and I both jumped at.  In some children the Albuterol increases the amount of SMN produced by SMN2.  The trial showed some improvement in mobility.  We asked for a script right then.  Anything that could possibly help will be welcomed. 

Once we went through all this information, it was time for everyone else to come in and talk with us.  First came a PT and Dr Hornyak.  Then came Dr Dowling.  Next was a Clinical Research Coordinator.  A SW, Muscular Dystrophy Association Coordinator, and then the Clinic Coordinator.  A lot of people and a lot of information to try to keep straight. 

And the Results are In

So, it has been a while since my last blog.  The last three weeks of waiting have been very difficult.  I was constantly checking my phone to make sure it was on ring, not vibrate.  I always made sure it was in my pocket or somewhere I could hear it.  After two weeks, I ended up calling Kim, who was the person who would call us with the results.  She checked the lab and I was told that it would take at least another week, maybe two, to finish the testing and get the results.  After two weeks and six days, I received the call.

I was home alone with both kids.  Tony had to go into work for his annual evaluation and would only be gone a short time.  I was actually on the phone with JCPenney Portrait Studio wondering if we could get Hayden's pictures a day early so we wouldn't have to drive into Flint two days in a row.  Hayden was napping and Bella was laying on the couch watching Cars because she was sick with a 101 degree temperature.  I hung up with JCPenney so I wouldn't miss the phone call from Ann Arbor.  It was Kim with the test results.

She reminded me about what the doctor's were testing for and let me know the results were positive.  I was told that Dr Dowling would want to see us to discuss things further.  She made an appointment for Tony and I in Ann Arbor for the next day.  I was in shock when I hung up the phone.  I had not let myself believe that Bella could really have something wrong with her, so to actually hear the positive results was devistating.  I called Tony with the news and then had to pull myself together.  Bella is very observant and does not like it when people cry around her.  She gets very upset, so for her sake I had to stop.

Wow!  A positive result.  Never in a million years could I ever have imagined something like this could happen.  She is such a wonderful little girl and it is just so hard to think that she will more than likely never walk, that her muscles will slowly break down and disappear and that her life could possibly be ended too soon as a result.

Ann Arbor and Dr Dowling

Bella's appointment with Dr Dowling was sheduled for February 24.  I was so glad they could fit her in that quickly.  We had everything planned out and knew what time we needed to leave by so we could drop of Hayden and make it to the hospital in time to find where we needed to go.  Then, the night before, most of Michigan had a Winter Storm Warning, with up to 8 inches of snow.  Of course, everyone was wishing for a snow day, but I was really hoping we wouldn't get it.

We did, however.  All the schools were cancelled.  I think the news said more than 200 schools were closed that day.  Our appoinment was at 10:30, so we needed to leave early in the morning.  We ended up dropping Hayden off at my parent's house around 8:00 am.  I figured we should get on the road right away, because who knew how bad the roads would be.  We ended up getting the the hospital almost an hour early.  Once we hit Livingston County, the roads cleared up because they were getting more rain than snow.  So, we took the long way around the hospital.  I had never been there before, but Tony has on several occasions for work.  We parked in the ramp and then walked to the Mott Children's Hospital.  Next time, we will be taking a stroller.  It wasn't the shortest walk ever.

Once in the hospital it was like a maze.  Neither of us had been there before, so it was kind of a guessing game on where to go at first.  We entered on the third floor and had to take the Clinical elevators to the sixth floor.  That is where the neurological department is.  We were about 45 minutes early for our appointment.  Tony had to talk to registration on the phone before the woman could check us in.  There was only a single form to fill out, a medication form, so it was really quick.  The waiting room was really nice.  It was big, had comfortable chairs, a tv playing the Disney Channel.  Tony figured we had a while to wait, so he went to find the cafeteria for some coffee.  Before he returned, we were called back.  They actually took us early!

They first took Bella's vitals, which she absolutely hates.  So, of course her blood pressure was a little high.  She is not a fan of the blood pressure cuff.  We then were taken to an exam room where they wanted to take a naked weight, which was new for us.  She then had to stay just in her diaper until we left.  We figured that Dr Dowling would be coming in next, but that wasn't the case.

Before the doctor came in, three women came in.  I am not sure exactly what their titles were, but they were there to observe and ask questions.  The one woman asked the majority of the questions, which were basically background information and why we were there.  When they were done asking their questions, they told us they would be discussing our answer with the doctor and that he would be in shortly.  When Dr Dowling returned it wasn't alone.  The three women came back in along with Dr Hornyak.  Dr Hornyak is an MD who specializes in Spinal Injury Medicine, Physical Medicine and Rehabilitation.  Both doctors did assessments of Bella, which wasn't the easiest.  Bella has this horrible fear of doctors.  She was her normal self with the three women, but as soon as the doctors entered, her demeanor completely changed.  She is like this with every doctor we have seen.

After their assessment, Dr Dowling discussed things with us.  He said that he thought she could possible have Spinal Muscular Atrophy, SMA.  He said that is very common.  I was thinking, "Really?  I don't know a single person that has it."  He ordered a genetic blood test to be ran to test for SMA.  This was going to be the first step.  The next step depended on the results of the blood work.  If the test is positive, we will be given a follow up appointment as soon as possible to discuss what to expect in the future.  Bella will need to start seeing a pulmonologist right away so they can monitor her lungs.  Dr Hornyak would then decide if any equipment would need to be ordered or if more physical therapy would be needed.  If the results came back negative, a muscle biopsy would then be ordered.  They would use general anesthesia and make an incision in her thigh about an inch long a remove a piece of her muscle.  The next time we would see Dr Dowling would be when those results came in. 

Of course, Tony and I had a ton of questions and luckily he listened and answered them all.  He said most children with SMA never walk.  Even those children who had walked before, more than likely never walk again.  He said that there were four different categories of SMA, but the blood work doesn't show which category a child falls into, only if they have SMA or not.

Obviously, this is not what we wanted to hear at all.  We were really quite devastated.  We both looked at each other and just stared in disbelief at first.  How could our daughter be healthy since birth and then all of a sudden have something like this?  Why?  I just don't understand it.  We had to pull ourselves together enough to take her to get her blood drawn.  Something you really want to put her through after getting such bad news.

So, we got back on the elevators and went down to level 2, where to lab is.  Luckily, we didn't have to wait too long, even though it felt like forever.  I really didn't want to cry in front of Bella.  She doesn't like it when people cry around her.  She gets upset because she doesn't know what is going on.  I had Bella sit in my lap for the blood draw.  I had my right arm around her waist and had to hold on to her left had with my hand so when would grab for the needle.  The last time she got it drawn it went fast.  They seemed to know what they were doing and got her vein right away.  Unfortunately, this person didn't do so well.  He missed her vein and instead of trying again, he fished around for it in her arm.  They finally got it and it was over, but she still has a bruise on her arm, a week later. 

Now, we just have to wait for a phone call from Ann Arbor.  They doctor said that the results used to take months to get when they had to send it to an outside lab.  However, the hospital now did this type of test so the results would come back quickly.  His idea of quickly is 4 weeks.  Ha, 4 weeks!  Before we left, however, the woman who will be calling us with the results spoke with Tony.  She said hopefully she would be calling us within 2 weeks with the results.  One week down, hopefully only one more to go.

Appointment #2 with Dr Leber

We weren't supposed to go back to see Dr Leber until the end of April.  However, we ended up seeing him again at the end of January.  We thought we were only going in so we could get an order for leg braces for Bella, but what happened was completely different.

During Bella's evaluation with the PT, leg braces were mentioned.  Stacey thought that they would give Bella more stability so it would be easier for her to walk.  They would also keep her feet in the correct possition since Bella rolls her feet inward.  However, in order for Bella to get the braces, Stacey would need a doctor's order.  She originally called Dr Horning, Bella's pediatrician.  She didn't feel comfortable ordering the braces because Dr Leber was the last to see her and he was a specialist.  So, The Children't Office called Dr Leber's office and told them Bella needed an appointment.  We received a call from his office and the appointment was scheduled for the end of January.

We saw Dr Leber, still thinking we would be leaving his office with an order for leg braces.  He did a full assessment, again, on Bella and concluded that she had a significant decline in her muscle tone.  He said he couldn't find reflexes on her.  He told us that he still didn't think it was a neurological issue, but a muscular one.  There was nothing more he could do for Bella, so he wanted to pass the case off to Dr Dowling, a neuromuscular specialist and a collegue of his at Ann Arbor.  He told us that he would talk to Dr Dowling that same day and make sure they saw her as soon as they could.  We were told that more blood work would probably be done along with a muscle biopsy but those were things that he wanted Dr Dowling to order, not himself.

Not a good day for the Perge family.  We left with a lot more questions than answers.  We felt very defeated.  Obviously, no one wants something to be wrong with their child.  It is just so hard not knowing what could possibly be wrong.  On top of that, when would this new doctor be able to fit Bella in to his schedule?  How long would we have to wait and wonder?  Fortunately, we didn't have to wait too long.  Between the appointment with Dr Leber and the appointment with Dr Dowling, a month didn't even pass.