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.