Straight Talk | Understanding Scoliosis and Thoracic Insufficiency Syndrome

The future is brighter for children treated for early-onset scoliosis and thoracic insufficiency syndrome, thanks to treatment and research advances being made by the Division of Orthopaedic Surgery and the Center for Thoracic Insufficiency Syndrome at Children's Hospital of Philadelphia (CHOP).

Transcript

Living with scoliosis

Sandra Franz, Mother: Kirsten had developed a severe curve in her back. She was only a year old so Dr. Dormans decided to put her in a bending brace. She was in it for approximately two years, two and a half years, and it just didn't work. At that point there was no other option but to do the growing rods.

Michelle Holliman, Mother: Tabitha, she was born with the type of kyphoscoliosis where her spine is just very sharp curve. If she was born 10 years prior, she probably wouldn't be here now. Because that severe scoliosis, that compression with her lungs, they just wither away. She now has a VEPTR system that she had put in when she was four years old. If she never had this implant done she wouldn't be able to function as well as she does now.

John Dormans, MD: Children's Hospital of Philadelphia was the first children's hospital in the United States, founded in 1855. So the hospital's been around a long time and there have been orthopedic disorders as part of the hospital's work dating all the way back to that time.

Robert Campbell, MD: The orthopedic division at CHOP is simply amazing. There's multiple experts in many in areas.

John Dormans, MD: We treat children with the myriad of different conditions and disorders.

Robert Campbell, MD: In particular, though, CHOP has distinguished itself worldwide for its treatment of spine deformity.

John Dormans, MD: And one of the areas that we have a particular expertise and interest in is thoracic insufficiency and early onset scoliosis.

What are early onset scoliosis and thoracic insufficiency syndrome?

Robert Campbell, MD: The term scoliosis dates back 2,500 years to Hippocrates. It's Greek for "lateral curvature."

John Dormans, MD: The side-to-side curvature of the spine.

Robert Campbell, MD: You can see this lateral curvature on an X-ray taken from the front.

John Flynn, MD: Early onset scoliosis is the initiation of a significant spinal deformity in a very young child.

John Dormans, MD: It begins or becomes a problem usually prior to three to five years of age.

John Flynn, MD: Many of the real, true early onset scoliosis children that approach us are infants and toddlers.

John Dormans, MD: The incidence of regular or all comers scoliosis is about 1 in 1,000. For early onset scoliosis, it's much less common than that, maybe about 1 in 100,000. So they're very rare disorders.

Robert Campbell, MD: Most scoliosis being the teenage type which we term idiopathic adolescent scoliosis. But the early onset scoliosis is much more severe, it can cause more problems with pulmonary disease later in life.

John Dormans, MD: There are patients with chest wall deformity and that may or may not be syndromic, in that those patients will have different issues or problems to address. Some of the patients have malformations of vertebra.

Robert Campbell, MD: What's called "failure of formation" or "failure of segmentation." This is looking just at the spine. But this translates also to a chest problem. So, if you have missing ribs, you have failure of formation. Ribs that are fused, that part of the spine is usually fused adjacent to it, that's failure of segmentation. You can have a birth defect where the thorax is too narrow. That's also a volume depletion deformity, the most common being Jeune Asphyxiating Thoracic Dystrophy.

Raymond Kleposki, MSN: The complexity can be as simple as you got a 10-degree curve, to something significant, you have a 100-degree curve and your lung doesn't move on the left side.

Robert Campbell, MD: Early curvature of the spine is a simple spine problem. Once deformity progresses and starts to warp the chest, then it starts to provoke early thoracic insufficiency syndrome.

Michael Nance, MD: Thoracic insufficiency is the lack of enough pulmonary function, or lung function, to support the patient.

Robert Campbell, MD: The inability to the thorax, which is the spine, rib cage, and the breathing muscles to support normal respiration or lung growth.

John Dormans, MD: So the patients have difficulty breathing and functioning in a normal way.

Michael Nance, MD: Many of the patients already are well into thoracic insufficiency and need support. Others are clearly headed that way.

Robert Campbell, MD: So the chest may do justice to lung growth the first year or so, but gradually, the lack of growth is a serious irreversible problem.

You look at an X-ray, and your spine is curved like this. But to look down inside the child, the thorax looks like a big oval. And then, as the spine curves, it shifts. But it shifts into the chest, and it starts to push on the lungs leaving it no room. And then the rib cage on the side, the spine rotates into, stops moving. So you not only lose volume, you also lose the chest's ability to aid respiration. And once we understand it better, and pioneer treatments to reverse it and pull it out to normal shape, normal volume, and normal function, then we'll have much better treatment for these children with early onset scoliosis and thoracic insufficiency syndrome.

John Flynn, MD: When families first arrive at CHOP, they are trying to figure out what we have and how it relates to what they expect.

Robert Campbell, MD: Their children have rare diseases. These diseases are hard to treat, hard to diagnose, hard to understand.

Michael Nance, MD: The families have an extraordinary journey. Most who end up coming for evaluation have already had a busy life and a — probably an incredible journey just to get there.

John Dormans, MD: They come with a lot of anxiety, uncertainty, as to what the future holds. There's fear of the unknown.

Robert Campbell, MD: The logistics of bringing children here to CHOP with special needs and thoracic insufficiency syndrome are daunting.

John Flynn, MD: It takes a very sophisticated organized group of people.

Robert Campbell, MD: We have a nursing practitioner here who helps in coordination and also another individual in Complex Scheduling that helps coordinate all the appointments.

Raymond Kleposki, MSN: These families, at times, can be quite stressed and the demand on them is great. And sometimes you need to take a step back and say, "All right, this is what we can do today. This is what we can do tomorrow. But we need to get it all done."

Robert Campbell, MD: What we don't want to happen is have multiple visits scheduled at multiple times and incurring more travel time and expense for the parents. So if we do our almighty best to get everybody in within that one or two days to have them see everyone they need to see.

John Dormans, MD: So they come, and we'll begin with a history and physical examination, and we'll take in all the information. And there's usually a lot of teaching and explaining that goes on during that early first and second visit.

Michael Nance, MD: However, there's several bits of information that are crucial in trying to make decisions about moving forward. That includes imaging. So there's standard imaging, just plain X-rays that give us an idea about the bony anatomy.

John Dormans, MD: But there's now many other sophisticated imaging techniques from dynamic MRI to low-radiation CAT scans.

John Flynn, MD: We can take that now and use three dimensions to really put it all together with a computer algorithm so we can see and literally spin the spine around and spin the chest around and measure its volume and get a better sense for where the ribs are in relation to the spine in all three dimensions.

Robert Campbell, MD: Because I want to know if the ribs are dented in because I may have to go in at surgery and pull them out. I won't see that on X-ray. I want to know that the ribs are twisted into an angle because I will have to reverse that.

John Flynn, MD: And most recently, MRI has advanced substantially. CHOP and many of the brilliant radiologists we're fortunate to have working with us have now pioneered this dynamic MRI technology that you can show these movie clips of the child breathing.

Robert Campbell, MD: You literally take a MRI in 1/3 of a second.

Oscar Henry Mayer, MD: And then what's done is the radiologists are able to take the images and paste them together in a sequence so that you can see how the lungs, the chest wall, the diaphragm, and the entire respiratory system moves through an entire cycle of breathing.

Robert Campbell, MD: This is a whole new level of understanding of lung disease and spine and chest wall deformity that no one has ever really looked into. The support of the pulmonary division is critical for this.

Oscar Henry Mayer, MD: To try and assess what limitations each child has then beyond that what their progression has been. Are they in a static position where they haven't had any change in their capacity, or are they continually progressing and having more difficulties with each passing year?

Robert Campbell, MD: They also are stewards of effectiveness of treatment because of their expertise in infant pulmonary function testing, which is not available to many hospitals throughout the U.S.

Oscar Henry Mayer, MD: It gives us the ability to look at dynamics of respiration -- how much air a patient can conceivably breathe in when they are able to breathe in as deeply as possible and then the size of the chest cavity itself and how much the lungs can expand within it.

Robert Campbell, MD: So they are a key part of the team, and their expertise enables us to make the surgery safer and make the approach more intelligent.

Getting strong for surgery

John Dormans, MD: There are times when a child will have bad nutrition. They'll nutritionally be depleted, we say, and we want to address that first.

Robert Campbell, MD: They may be working so hard breathing they can't gain weight. So they're just too skinny. And we can't put the devices in because there's not enough skin and muscle to cover them.

Oscar Henry Mayer, MD: They need to have an adequate soft tissue mass to tolerate the surgery and the change in their thoracospinal orientation.

John Dormans, MD: We may need to have them see the nutritionist or get the medical specialist involved to improve their nutritional situation prior to embarking on a surgery.

Oscar Henry Mayer, MD: One of the things that we can certainly offer is providing respiratory support either noninvasively or invasively using mechanical ventilation.

Robert Campbell, MD: If we can make you breathe easier, then you divert those calories back to growth and health.

Surgery: Which operation

John Dormans, MD: If the chest wall is more or less normal, we'll go with the growing rods. If the chest wall, however, is abnormal with missing or fused ribs, then the VEPTR device comes into play and is a better device for treating those situations.

Oscar Henry Mayer, MD: Growing rods and the VEPTR treat different aspects of thoracospinal disease.

John Flynn, MD: The traditional growing rod is fixed only to the spinal elements, sometimes to the pelvis, but generally, fixed only to the spinal elements.

John Dormans, MD: There are anchors placed at either end of the spine. So, if there's a curvature, there are anchors placed above the apex of the curve and anchors placed below the apex of the curve. And then from those anchors there are two rods, and they're connected in the middle with an expander, or expansion device. And so when we do the correction, we're distracting through those connecters to try and straighten the spine.

John Flynn, MD: You're pushing those fusions apart and driving spinal growth.

John Dormans, MD: Essentially, by pulling or stretching the crooked spine into a straighter spine. And then, generally, we'll go back every six months and distract a little more just to drive the spine, if you will, and promote longitudinal growth of the spine and, as a result, preserve pulmonary and chest function.

Robert Campbell, MD: And treatment of thoracic insufficiency syndrome with the VEPTR device it's the same routine, a major surgery — with the implantation of the devices and the reconstruction of the rib cage to make it larger for lung growth. But then once again as the child grows we have to lengthen the implanted devices to keep up with this growth. VEPTR stands for Vertical Expandable Prosthetic Titanium Rib. It's a curtain rod of strong titanium that is able to expand when it's unlocked and then locked in an expanded position.

John Flynn, MD: The VEPTR can hook to the ribs. It can hook to the pelvis. It can hook to the spine. And what VEPTR will allow us to do is literally expand the chest itself. It will correct the chest wall deformity and, secondarily, through the way the ribs are connected to the spine, it will actually correct the scoliosis itself.

Robert Campbell, MD: It's placed in the child collapsed down in its minimum position, attached, and then, as the child grows, we access the bottom of it, expand it as much as we can, and then relock it in that position.

John Dormans, MD: When the child goes back to the operating room, generally, there's a lot of preparation that's involved with that.

John Flynn, MD: We have the good fortune of working with really world-class anesthesiologists who can, are used to taking care of the most difficult problems in even the very youngest children.

John Dormans, MD: They'll generally go to sleep with an inhalation anesthetic or with a gas. So they're asleep before any procedures are done, before any lines are placed, before any needles are used.

We have special positioning devices that we use to hold or position a patient during surgery, such that they're safe and protected. Such that bony prominences are not irritated or the skin isn't damaged. We protect the eyes. There's a bite block that's used to prevent injury to the teeth or the tongue.

Michael Nance, MD: There's several layers of safety monitoring that occur in the operating room during the case.

John Dormans, MD: Safety is king. We focus a great deal on safety, avoiding mistakes, avoiding obstacles, complications, problems.

Michael Nance, MD: It's obviously vital, when a patient is asleep and can't communicate and let you know if there's problems, then we have to be able to figure those out for them.

John Dormans, MD: One of the most difficult or problematic complications of spinal deformity surgery would be a spinal cord injury. It's a complication that we go to great lengths to avoid.

John Flynn, MD: We really have, I think, the best spinal cord monitoring group around, and they are true pioneers in spinal cord monitoring. And they are pioneers in monitoring even the very youngest children.

John Dormans, MD: They've developed some of the key techniques for monitoring the function of the spinal cord during these difficult surgeries.

John Flynn, MD: So they can tell us if the spinal cord is not behaving or if we need to back off a little bit in our correction. Having that information in real time in the operating room in an environment where we're communicating with them just really enhances the safety of these complex procedures.

Daniel Schwartz, D.ABNM: So we apply sensors from the head down all the way to the feet.

Michael Nance, MD: There are small needles which are placed in the tissues to monitor their nerve conduction--

Daniel Schwartz, D.ABNM: — that allow us to monitor signals that go down from the brain, through the motor pathway of the spinal cord, out to muscles of the upper and lower extremities, or the arms and the legs. And in addition, we monitor signals coming from the feet and the arms up the spinal cord to the brain, which allows us to monitor the integrity or strength of the sensory pathways of the spinal cord. We're actually looking at a computer screen, and on that computer screen we can see different types of signals that occur from stimulating the spinal cord. And we will see responses either coming from the brain or the muscles that the spinal cord feeds. And so, if we, for example, see that the strength of the motor signal during a specific surgical maneuver is going down, we can alert the surgeon that, "Whatever you're doing right now is potentially setting the child up for an injurious state." And, therefore, we need to do something to reverse that.

John Dormans, MD: So it's very complex, very technical, but very important to what we do. With these new techniques and new approaches, it's radically changed how these kids are treated.

After surgery

John Dormans, MD: The postoperative course after spinal deformity surgery for early onset scoliosis, those children are usually getting a growing rod procedure and their rehab is very simple. They're up walking the day after surgery. They're often going home on the third or fourth postoperative day. They're often back to school within a week or two. And then back to gym and sports, if they were participating before, within three to six months.

Oscar Henry Mayer, MD: The ability to insert growing rods has provided a lot, in terms of stability and preventing disease progression, to the point where many of these children, if treated early and aggressively, don't end up seeing me or seeing my colleagues in pulmonology because they're stable. Their chest and spine is stabilized, and they're able to grow in a relatively normal manner.

John Dormans, MD: After surgery they notice that they're taller or straighter. And often the rib or chest wall asymmetry, the so-called rib hump, improves or gets much better, in some cases goes away.

Robert Campbell, MD: With the VEPTR approach — after the initial VEPTR implantation they'll spend several days in the Intensive Care Unit and then about five to seven days convalescing on the floor.

Raymond Kleposki, MSN: We're expanding their chest walls. This is their drive to breathe. This is their intercostal muscles, their lungs, their diaphragm, everything is being changed.

Michael Nance, MD: It does give them a bit more volume. You usually have straightened the spine in many of these children, so you're improving the dynamics of respiration, the function of the diaphragm.

Michelle Holliman, Mother: And before this implant, you figure you've got a lung here, and this was her. That's how her lungs were, and now they're like this.

Tabitha Holliman: When I was a baby, I had a hard time breathing. When I was getting older, I had to use a inhaler. Now I'm breathing fine. I don't have to use an inhaler.

Michelle Holliman, Mother: When you're watching your child sleeping and you can see they're having a tough time breathing and all that-- and just to get to this point today, where she's out cold and enjoying herself.

Oscar Henry Mayer, MD: One of the advantages of using respiratory therapy is that we can help patients re-recruit and better utilize the lung that they have available.

John Dormans, MD: A lot of these kids have complex other problems.

Robert Campbell, MD: Multiple deformities, severe problems.

John Dormans, MD: And the nursing staff does a great job of knowing the intricacies of what these other diagnoses and conditions are. That's one of the advantages of being at a place like CHOP.

Raymond Kleposki, MSN: I think that the only way to truly care for these patients is to have an organization that has top rate NICU or PICU, top rate pulmonologists, top-rated doctors, top-rated orthopedic surgeons.

Robert Campbell, MD: So our team, from nursing to anesthesia to the rehab people, brace people, they're familiar — they're comfortable with these rare conditions.

Michelle Holliman, Mother: Between the anesthesiologist and the pulmonary and the orthopedics, they're all together. They do this every day.

Sandra Franz, Mother: I hand over my daughter to them, and I know she's in good hands.

Tabitha Holliman: It may be scary in the hospital, but people are taking care of you, and they're trying to help you. So mostly you don't have to be scared of really anything.

Oscar Henry Mayer, MD: It's very important to maintain a close working relationship with the referring physician and have a bidirectional flow of information.

John Flynn, MD: We can send e-mail communications back and forth with images. I get pulmonary function tests sent by e-mail and then it gets very easy with a little bit of data to pick up the phone and talk with the referring physician and keep them together as a partner.

John Dormans, MD: Keeping the primary care team in the loop, up to date, communicating well with them is not only important for us, but it's very important for the patient and family. We put a lot of emphasis and effort into that.

Robert Campbell, MD: So this is all part of the treatment approach. Not just taking care of a child, but taking care of the whole family.

The new Center for Thoracic Insufficiency Syndrome

Robert Campbell, MD: Part of my reason for coming to CHOP is to help build a new center of excellence. That has just been named The Center for Thoracic Insufficiency Syndrome.

John Flynn, MD: The Center for Thoracic Insufficiency Syndrome at CHOP is a multidisciplinary program designed to treat young children with chest wall, spinal, and pulmonary problems.

Robert Campbell, MD: We look at all forms of treatment and look at new devices that treat thoracic insufficiency syndrome. And with the research capabilities of CHOP, along with the University of Pennsylvania, do the science that enables us to understand this disease better and make the devices more effective.

John Flynn, MD: The goal of the center, of the group of experts who come together in the center, is to identify children who will most benefit from these novel approaches to managing spine and chest wall problems.

Michael Nance, MD: Many of these kids will be evaluated by the multidisciplinary team to try and decide whether they need a combined procedure with a VEPTR or simply a growing rod or just isolated scoliosis surgery.

John Flynn, MD: And there's all of us around the table — the orthopedic and spine surgeons, the general surgeons, the radiologists, the pulmonologists, the engineers — all around the table presenting child after child, showing all their imaging, and each person looking at the components of the child's problem.

Robert Campbell, MD: And we literally debate the merits of each problem of the child in terms of how it's going to contribute to the overall disease and how it affects our treatment options.

Michael Nance, MD: Everybody is going to have a little bit different spin and everybody brings a little bit something different to the table.

Robert Campbell, MD: As an orthopedist, I may say, "Straighten the spine." Then my pulmonologist says, "That will not affect the intrinsic lung disease."

Michael Nance, MD: There may be something that, as a general surgeon, I may not realize about the nuances of the orthopedic procedure or something that the pulmonologists may be concerned about relative to the surgery or changing the configuration of the chest.

John Flynn, MD: It's the way we communicate. It's the way we work together. It's the way we think of problems together and discuss them that really gives the families an advantage. Many heads looking at the problem from different directions.

Robert Campbell, MD: The consensus that emerges from these meetings provides a series of options for the parent that come from a great depth of multi-specialty expertise, which is unmatched anywhere.

John Flynn, MD: It all isn't going to be solved in their first visit. There's a level of complexity that is going to require an initial assessment then a stepping back and a thinking through the whole process and what the problems are — sorting them out, getting certain subspecialists involved, and then a planning process and then a return to review imaging, and start to talk about the treatment options.

John Dormans, MD: The stakes are high. The risks are high for these children. And so having a team that really dedicates itself to the intricacies of care for these children with very, very difficult and complex problems is important to us.

Long-term care and future treatment advances

John Dormans, MD: With both the VEPTR and the growing rod surgeries, generally we're going back every 6 to 8 months and lengthening the device.

Robert Campbell, MD: We access the devices through about a one-inch incision. Unlock them, expand them, and then relock them.

Michael Nance, MD: Typically, these are outpatient procedures are much better tolerated.

Sandra Franz, Mother: Recovery from a lengthening is so much quicker.

Michelle Holliman, Mother: We're at the point now where we're in and out within a day or so. I'm hoping to get to the point where we're out the same day.

Michael Nance, MD: But it's an additional operation, and I think nobody would choose to have that if they didn't need to. So, I think, the kids are extraordinary in what they're able to deal with.

Sandra Franz, Mother: My daughter is going to be 9, and she's healthy, happy, doing everything that she can do.

John Dormans, MD: One of the up sides of caring for young children — one of the advantages is that they're so resilient.

Robert Campbell, MD: I've had children with VEPTRs in playing football, soccer, there's no restriction whatsoever.

Tabitha Holliman: I can run. I can, like, jump on the beds, even though I wasn't supposed to.

Michelle Holliman, Mother: She has got a spirit about her. She'll try anything. Like the art museum steps.

Tabitha Holliman: And as soon as we got there I did the Rocky thing, and then there was more stairs to do.

Robert Campbell, MD: The children with these devices — generally don't notice them.

John Dormans, MD: Once we've hit 10, 11, 12 years of age, the need to lengthen the spine or distract and improve the situation more diminishes. So those patients are pretty much at the end of the road for their surgery. And the "growing rod graduates" as we call them are becoming more and more common.

Raymond Kleposki, MSN: Dr. Campbell is starting to see the graduation of his oldest VEPTR patients into the definitive time when the spine finishes growing.

Robert Campbell, MD: We feel the future is bright for these children, but we don't know how bright.

Michael Nance, MD: These kids truly are pioneers. We don't know whether they'll outgrow their lung function again.

Robert Campbell, MD: Most children untreated would probably have a very dim future — a life expectancy limited.

Raymond Kleposki, MSN: Twenty years ago, they would not live past 3 to 4 years of age with the diagnosis they have.

Robert Campbell, MD: Are these children going to see 70 or 80 years? We don't know. But it's looking very hopeful right now.

John Dormans, MD: We challenge each other. We never assume that what we do is as good as it can get.

Robert Campbell, MD: There's a constant need to improve things.

John Dormans, MD: We're always looking for a better way. Something that's safer. Something that's easier on the patient and family.

Oscar Henry Mayer, MD: One of the nice things about working at CHOP is because of the size and the resources behind it, there's the ability to take new and novel ideas and develop them effectively.

John Flynn, MD: I think we're going to get to the point where the techniques are safer. They're less invasive. They're more consistent.

Robert Campbell, MD: And hopefully, the VEPTR device will be obsolete at some point because something a lot better exists for treatment of these children.

Raymond Kleposki, MSN: Who knows what the future holds as far as the devices go?

John Flynn, MD: If you just look at the package that a family is offered today compared to 15 years ago and you project that forward 10 or 15 years, I think it's really hopeful.

Michael Nance, MD: CHOP is a place where hope lives, so it is an opportunity to try to find solutions to problems that didn't have solutions before or are extraordinarily challenging.