7/10/13 - Visit with Geneticist, Dr. Pauli

Yesterday we traveled to Madison for the much-anticipated follow up for Elliot. We met with the Orthopedist, Dr. Halanski first and then with our Geneticist, Dr. Richard Pauli. Overall, it was a lot of information to take in and we left with much to consider. When asked late yesterday and today, "How were the appointments? Were they good?" I am having some difficulty responding. Disheartened is the first word that comes to mind. I am struggling a bit for acceptance so we can forge ahead with what we "can" do for Elliot.

Elliot's left patella (knee-cap) is completely dislocated. In addition, his hip-ankle alignment is off causing him to be "knock-kneed" and there is a slight bone length difference between the right and left legs. This is the cause of his inability to straighten his leg and is the root of his gradual decline in mobility since about November of last year. The quadricep of his left leg is basically useless. He is unable to lift his left leg. This also explains the "limp" he has developed over the past few months. He's using other muscles to swing his left leg along and "toe" walks to create an alternate method for walking. Elliot can get around pretty well and when he wants to move quickly, he sort of uses the left leg as a spring board to propel himself forward. He hasn't "run" in a very long time. The self-adjustments he has made tire him quickly. To stand in one place, he has to put all of his weight on his right leg and place the "toe" of his left foot carefully on the ground for balance. Stairs are a particular challenge for him. Usually I carry him up (particularly at the end of the day). If he goes up on his own, he crawls and pulls his legs up under him. Going down is manageable as long as he has a railing. If he is particularly sore or tired, he will scoot down the stairs on his butt one step at a time. The most comfortable position for him at rest is a full kneeling position. Knees completely flexed (bent), sitting on his heels.

Knee Surgery

We confirmed that the knees must be addressed before we can even consider long-term issues with his hips. It is important to note that Dr. Halanski's comment regarding "no real concerns at this time," was relative to the significant concerns about Elliot's knees "at this time." Dr. Pauli consulted with the Best Bone Disorder specialist in the US, Dr. William Mackenzie, at the recent LPA (Little People of America) conference in DC a couple of weeks ago specifically about Elliot. We will need to address the hips and the problems they are causing, but for now we must focus on the knees. Our two Madison experts agree on surgery, but the question right now is the exact procedure (or series of procedures) that would give Elliot the best possible outcome. We trust Dr. Pauli completely with all things Elliot. He believes Dr. Matt Halanski is the right surgeon. So at this point, we have certainty on two things: 1) we will travel back to Madison for Surgery before the end of the year, and 2) Dr. Halanski will be the surgeon.

Surgical Option #1

Dr. Halanski's initial recommendation was a two-step procedure. Insert metal plates and screws on the inside of each knee with a triangle cut in the left femur. This allows Elliot's own growth over the next 12 months to help correct the "knock knee." As he grows, the plates will force the bones to grow in almost a "bow-leg" fashion. At approximately 12 months, a second surgery would be done to move the left patella back into place. Without the first step of inserting plates to correct the knock-knee angling, the procedure to move the patella has a strong chance of failing. For Elliot, this means no difference in what he can do today for at least another year. No hope of running again until he is approaching 11 years old. I asked for another option.

Surgical Option #2

Dr. Halanski looked at Elliot kneeling on the seat, sat back, and thought for a moment….we could do a complete osteotomy now – knee surgery, with casting for 6 weeks post-op on the left knee and plate and screws on the right knee. This could include soft-tissue release (ie cutting muscles to allow more range). I asked him what he would do if Elliot was his child, and he agreed and suggested a second opinion – Dr. Will Mackenzie at Dupont. I also asked Dr. Halanski if he had knowledge of or has ever seen a knee dislocation like this in a child – the answer was never. The unfortunate result of this surgery would be that Elliot would lose Flexion (the ability to bend his knee all the way). The best case scenario was that the left leg would function as good as the right leg does today (always slightly bent), and he would only be able to bend the right knee to about 90 degrees. No more "comfort position" of kneeling all the way and sitting on his heels…

Later in the afternoon, we reviewed all with Dr. Pauli.  While Dr. Pauli understood the first recommendation, he didn’t hesitate in saying 12 months of no possible improvement was unacceptable.  In addition, the idea of the plates is to work with a child’s growth and Elliot grows more slowly that the average kid.  It would be a minimum of 12 months before the second procedure could be performed.  More importantly, plates have never been tried for a child with Elliot’s disorder.  Although the procedure makes sense, there is zero (Dr. Pauli emphasized by making an “o” with his thumb and forefinger) concrete evidence this procedure would even help.  The same procedure on children with other bone disorders mostly proved the plates to be ineffective.  Dr. Pauli conducted a full physical exam during which is wonderful assistant Peggy documented every detail.  We will receive a copy of this write up in the next couple of weeks.  Dr. Pauli noted several questions regarding surgical options that he will be addressing with Dr. Halanski next week.  We concluded the appointment with “what’s next?”.

Janet