Three opinions, Genetics and the Heart

For some reason I was hoping that when we went to three doctors to see what treatment is recommended for Brandon's spine, I would have three opinions all the same and it would just be a decision on whether to do surgery or where to do surgery.   But instead I now have 3 very different recommendations.  And if you saw my original blog I hate making these very important health decisions for Brandon.  Brandon has been actively involved in the discussions and I have been talking to him about options but he just doesn't understand truly what is involved. He does understand if the surgeon likes the Beatles and that is the most important thing to him.  I also thought this post would be about genetics.  But we have much more than genetics to report.  

Lets start with genetics - 

• Our goal with genetics is to find out if there is an underlying genetic issue with Brandon contributing to his osteoporosis.  
• I also want Baylor to update Brandon's complete genome profile which is over 5 years old.  Six years ago we didn't know as much as today about what genes are associated with diseases.  We have become much more informed and in 10 years this will be the new norm.  I have mixed opinions on doing genetic testing and resisted it for many years until Brandon started having uncontrolled seizures at 16.  While in the seizure monitoring unit at Dell we decided to run tests focused on seizures and Brandon's other conditions.  However, we didn't run the tests focused on bone health.  At some point we had the entire genome report run.  What did we find out?  Brandon has a ton of possible serious conditions.  Pages of them.  Most of them he is a carrier of the specific gene related to a condition.  We have confirmed that is the case for the three markers for osteogenesis imperfecta (brittle bone disease) and that Brandon is unlikely to have this condition.  
• The last thing I would like if possible, is a diagnosis for Brandon.  We don't have a real diagnosis.  We have used cerebral palsy since he was 9 month's old.  Cerebral palsy is associated with damage to the brain.  All the tests run on Brandon (many) do not show damage.  But we needed a diagnosis and we are sticking with this one for now.   Very common for the time period of Brandon's birth. 
• The genetic clinic decided we will run a series of genetic tests focused on bone health and they believe there is enough data in Brandon's complete genome file that they can run the tests from the data rather than drawing more blood. So we are waiting on the clinic for next steps.   

3rd Opinion - We met with Dr. Hanson at Baylor who was highly recommended by Dr. Peacock from the Baylor Transition Clinic where she treats hundreds of Brandon's.  I am always amazed at her work and her knowledge of the population.  I really liked Dr. Hanson.  His whole team met with us.  Reviewed the medical records, took x-rays (everyone wants their own), walked with Brandon and had him move in many positions.  Dr. Hanson said that Brandon does have severe scoliosis and that if I asked 100 orthopedic physicians if Brandon needs surgery, 98% of them would say yes.  I think the number 1 question - does he need surgery is Yes.  
The second question - what kind of surgery is different. Dr. Hanson said he has the most success with the least invasion on the body and with this specific curve doing surgery from the side and only repairing the curve (T9-L3 or 4).  He has operated of many patients with neurological conditions and this has been successful.  He said that in the operation part of it will be to build bone in the effected area (a little unclear on this).  Brandon would be in the hospital 5-7 days and would be able to go home afterword's with no rehab needed.  He strongly recommended we do not fuse the spine to the pelvis because Brandon would lose his ability to bend, he would be stiff, and he believes it is harder for these neurological patients to adapt.  I did ask about the fact that Brandon is not aligned in the spine and if Brandon was still out of alignment after the surgery or the alignment gets worse can we add that to the spine at a later date.  His answer was yes.  I know it sounds great.  BUT Dr. Viere was very concerned about the spine being out of alignment and the Austin surgeon said he may have to fuse the spine as well.  So I really need to review this carefully.  Dr Viere gave us a detailed plan of care with reasons why we need to do each step.  I need the same from the Austin surgeon and Dr Hanson if I am really going to compare.  Then I need some medical help reviewing the comparison.  
Dr Hanson also felt we could go a little longer on forteo.  Based on our visit it sounds like he is recommending doing surgery in 6 months to a year with the next check in 6 months.  I made one serious mistake while talking with Dr Hanson.  I forgot to ask if he loves the Beatles.  Brandon was not too keen on Dr Hanson as a result.  I am going to take the next step of asking all of the surgeons to put their plan for Brandon in writing.  Good news we have more time to make a very serious decision.  

Heart - The last blog told you that Brandon flunked the EKG and the hospitalist wanted Brandon to be seen by a cardiologist.  After I posted I received a great recommendation for a heart physician and we met with him last week.  As I suspected the EKG appears to be normal.  But Brandon does have PDA (Patent Ductus Arteriosis) which is an unclosed hole in the aorta. (Before a baby is born, the fetus's blood does not need to go to the lungs to get oxygenated. The ductus arteriosis is a hole that allows the blood to skip the circulation to the lungs. However, when the baby is born, the blood must receive oxygen in the lungs and this hole is supposed to close. If the ductus arteriosis is still open (or patent) the blood may skip this necessary step of circulation. The open hole is called the patent ductus arteriosis.)  This is very common.  Many of you had this and never knew it.  Usually the hole will close up after birth, but in some cases it does not.  If you read on this, it is normally not an issue until possibly later in life when there is a slight risk of stroke if the hole does not close.  It also can be a risk in a very long surgery such as Brandon's especially if the hole has grown.  We are testing to see if the hole has grown so we have a better idea on possible heart risks for Brandon during this long surgery.  Brandon has no signs of any heart issues at this point and Brandon had previous testing on this 8 years ago.  At that time there was still a hole in the heart and it had not grown.  So I am expecting the same with the next test.    

A little surprise, the foot -  The reason we know Brandon has severe osteoporosis is because Brandon's foot swelled last year and he was limping on it.  We had an x-ray at the PCP's office and he said that Brandon's bone health did not look good.  Two weeks ago Brandon's foot swelled again.  This time the radiologist also said Brandon's bone health did not look good.  Brandon has problems with his feet for 20 years.  Breaking them, spasticity, one foot curving in like a C.  Not unlike this decision we had many recommendations on how to repair the feet ranging from do nothing to do surgery on both feet and hamstrings.  But the feet have always been the worst and the scoliosis was secondary.  I have been ignoring the feet.  After this last swollen foot, I consulted with Scottish Rite on what they recommend we do (they operated on one of he feet).  They would like the foot checked as well, but with a physician who specializes in feet and has done surgery on many complex patients.  We haven't checked the foot since we left Scottish Rite 7 years ago.  We are seeing another doctor on the feet in Dallas.  

One last point.  How does Brandon get to see all these doctors all over Texas?  He has private insurance, regular Medicare and regular Medicaid.  But Brandon is about to turn 25.  There is a federal law that allows parents to continue coverage for their adult children on their insurance beyond 25, but they must be totally disabled.  Brandon turns 26 in December.  I will be applying for Brandon to continue with my commercial insurance policy to allow coverage beyond 25.  I will also blog about the process in the future for any family wondering how to do this process.  

It has been an exhausting couple of weeks but glad we are getting some great expert advise.  Only a few other appointments and then some down time while we look at all options and go to see Paul McCartney.  Did I mention he released his new CD and we listened to it on our drive to Houston.  Preparing for the big gig.  Also Brandon will be doing another radio show this Monday Sept 17th on KOOP radio with Rush Evans.  He will be interviewing Van Wilks (Texas guitar god) and Stephen Doster and Andy Salmon (before their upcoming John Lennon Tribute).  More later.