Genetics

Genetics

On Tuesday, December 16th, Mom and I took Elizabeth down to Children's Hospital.  We were scheduled for an appointment with Genetics, Hematology and then to be admitted for an overnight Video EEG. It's amazing how time can go so slow and yet so fast at the same time.  It seems not so long ago that we were told it would be March until we could get into Genetics, and they shortly thereafter they called and said that the powers that be wanted her appointment moved up. So, they moved her appointment to December.  Although, I'm grateful for the appointment being moved up I was filled with bittersweet emotions.  Genetics is a tough department to get into quickly, and I know from conversations with other parents, doctors, and my own research that they don't move appointments up unless they feel that there is a need to do so.  The December date came upon us, and our time for answers drew near.  It was one step closer for us for answers for Elizabeth.  Sometimes, even though wait times are shortened, I still feel as if I am in a tunnel where time stands still.

At Genetics, we met with a Genetic Counselor, a Fellow and a Medical Student who was visiting and observing in Genetics that day.  We extensively reviewed Elizabeth's medical history, symptoms, features, and our family tree.  They examined her, we discussed testing procedures, etc.  Then, they reviewed their notes with Dr. Areeg El-Gharbawy.  I have heard wonderful things about her from my friend, Sara Stewart, so I was excited that she was going to be the doctor from Genetics on Elizabeth's team.  We waited and played with Elizabeth. 

Dr. El-Gharbawy came into the room.  She reviewed some of the things that we had discussed with her other team members.  She started off by saying that she was going to be dictating a list of features and measurements of Elizabeth's that stood out to her as significant, and she wanted us to not be offended by it.  I expected that to happen, but I can only imagine how someone may take this part of the appointment negatively if they were not expecting this to happen.  Dr. El-Gharbawy dictated several features and measurements of note while the fellow marked her observations down on a sheet of paper. 

While listening to Elizabeth's heart, she heard a heart murmur. We have never been told that she has one before, and Dr. El-Gharbawy felt that it was a type of murmur called a "Flow Murmur."  This is an innocent heart murmur that can come and go.  It can be brought on by a variety of things, and her anemia may be the culprit in this case.  The murmur could be caused by her anemia, and so she felt it was important to see Hematology. 

Dr. El-Gharbawy also noted that Elizabeth not only has hyptonia, which means that she has low muscle tone, but that she also has hypermobility in her joints.  This means that Elizabeth's joints are very flexible.  She could bend Elizabeth's limbs and fingers in ways that made me hurt just watching her, but Elizabeth was not bothered by it at all.  She asked if I could bend my thumb to my wrist, and I said no.  So, the doctor tried to bend my thumb to my wrist. I was worried for a few minutes that she might break my thumb, but she quickly saw that I do not have hypermobility in my joints.  She asked if Jason had hypermobility in his joints, and I answered her with a resounding "no." Dr. El-Gharbawy explained that Elizabeth's hypermobility in her joints and hypotonia in her muscles is a combination of symptoms that makes it very difficult for her to perform activities that require movement.  She told us that essentially it makes Elizabeth a big rubber band, which is one reason why she is so slow to develop gross motor milestones. 

Dr. El-Gharbawy also mentioned that the good news was that she didn't look at Elizabeth and immediately say, " Yes, she has this," based on a distinct facial feature.  However, the not-so-great news is that Elizabeth has a variety of features that are common in different genetic syndromes and disorders.  She also mentioned that many of Elizabeth's features speak to a set of disorders known as "Connective Tissue Diseases."  Since Elizabeth presents such a broad range of symptoms and features, a set of genetic testing called a "Microarray" test would be the best starting point.  Then, depending on what that tells us, she may need to have another type of testing done. 

Unfortunately, this is where we are at a standstill.  The insurance company has denied this first level of testing.  It was actually ordered by Dr. Safier (one of her Neurologists) in October.  We had it drawn by the lab, and we were then informed that the insurance company was denying the test because they did not feel that it was medically necessary.  They also denied a slew of other testing that was done on the same day.  I won the appeal that I filed on the first set of other labs that they denied, but they appeal on the first level of genetic testing is still under review.  There are several doctors at Children's that have written letters on Elizabeth's behalf to the insurance company explaining why the genetic testing is medically necessary for her.  Dr. El-Gharbawy explained that this is not uncommon, because many insurance companies still feel that genetic testing is experimental.  She is also going to be sending a letter to the insurance company as part of the appeal.  Right now, Elizabeth's DNA is sitting in a lab waiting for the green light to go ahead and run the test.  I call the insurance company pretty much every day.  If this first appeal fails, there are two other levels of appeals that I can and will be filing. The way I look at it, they will either get tired of hearing from me or tired of me appealing, and eventually they will give in.  We will win this battle.  If for some reason we don't and the insurance still refuses to cover it, then we will find some way to pay for it ourselves.  Even if we have to sell our house and live in a tent.  (Just kidding.)  I think you get the point, though, that I'm not going to give up on this either. I do believe that with the amount of support from her doctor's at CHP, as well as my persistence, that they will see it our way.  It just may take some time.

We thanked Dr. El-Gharbawy.  She was very informative and thorough.  I checked the time and realized that it was 11:30.  We had been in Genetics for over three hours.  We were supposed to see Hematology at 10:00 a.m. that morning. So, we raced to get to Hematology.  We ended up having to reschedule with Hematology, because they did not have any appointments left that day or the next day.  So, we will be seeing Hematology on January 9th before her post-surgery follow-up with Dr. Jabbour.  Hematology will be weighing in on her anemia, which we know for certain is not related to an iron deficiency.  We know this for sure thanks to the blood work that was ordered by Dr. Amy Goldstein to further analyze her anemia and iron saturation.  Oh, yeah, this is part of the same blood work that I appealed that the insurance company did not feel was medically necessary.  Team Elizabeth Jeanne 1-- Insurance Company 0.