MINNEAPOLIS, Minn. (Ivanhoe Newswire) - Aulana's insides were compacted because of something she was born without, but a special surgery is giving her stomach some much needed space.
Aulana Hulbert has to walk on her hands to get around. She can't use her legs.
"She has no spine from the rib cage to the top of her pelvis and because of this her abdominal contents are squeezed," David W. Polly, Jr., MD, Professor and Chief of Spine Surgery at the University of Minnesota and Chief of Spine Surgery at Twin Cities Shriners Hospital for Children, told Ivanhoe.
It makes it hard for Aulana to eat and control her bladder and bowels, but a rare surgery could help.
"I won't be squishing my guts anymore," Aulana told Ivanhoe.
"Previously, the described treatment of his had been to amputate the legs and then to use the leg bones to create a spine," Dr. Polly said.
However, Dr. Polly is not taking Aulana's legs.
"We figured out a way to build a spine for this child," Dr. Polly said.
Donor bone helps connect the spine to the pelvis. Then, one of Aulana's ribs becomes a part of the new spine.
"We cut a segment of the rib, leaving the blood vessels attached, and swing the rib down to give blood supply to the bone to give it a chance to heal. They will all grow together and become her bone over time," Dr. Polly said.
Now, she has about six more inches of spine.
Aulana still walks on her hands, but the extra bone is making things better for her belly and her ability to sit up without using her hands.
"Also, she's finding it a little easier to eat now and she has a little better bowel and bladder control," Dr. Polly explained.
Besides Aulana, only one other person in the world has had this procedure. Dr. Polly performed both operations. He said Aulana will likely have her spine lengthened one or two more times to give her internal organs the room they need as she grows. While her condition is rare, Dr. Polly said it's related to maternal diabetes. As diabetes rates increase, he said he wouldn't be surprised if the abnormality becomes more common.
BACKGROUND: Caudal regression syndrome (CRS) is a rare congenital disorder in which the development of the lower half of the body is impaired, often causing the vertebrae of the lower spine to be misshapen or missing. The disorder can also cause malformed legs or feet, small hips, as well as other problems, although the severity of impairment varies between individuals. What causes the syndrome is not yet understood, but there is an association with maternal diabetes and one out of every 350 infants born to mothers with diabetes has the condition. (Source: www.nlm.nih.gov)
SYMPTOMS: Individuals with CRS can have various problems associated with the disease and the severity of these issues can also be very different between individuals, but some common symptoms include:
NEW TECHNOLOGY: The first lifesaving surgery in 2012 for this type of problem used to come at the cost of a patient's lower leg. In one operation at Birmingham Children's Hospital, a five year old girl had a 10 centimeter gap in her spine. She was born with a rare disorder called spinal segmental dysgenesis. Five bones that made part of her spine were missing. Her legs were also contorted against her stomach and she had little feeling in them. Like Aulana, she was running out of room in her chest and was at risk of her organs being crushed. Surgeons amputated from her knee down and a section of bone was taken to bridge the gap in her spine. Two metal rods were bolted to the upper spine and the hips in order to provide extra support. The procedure took 13 hours. (Source: http://www.bbc.co.uk/news/health-20426413)
David W. Polly, Jr., MD, Professor and Chief of Spine Surgery at the University of Minnesota and Chief of Spine Surgery at Twin Cities Shriners Hospital for Children, talks about a new advancement in spine surgery.
How did you found out about Alana? How did your paths cross?
Dr. Polly: I have been following her for probably about 3 years. She was referred to me by the because of the complexity of her case. She was born with a condition called lumbosacral agenesis, where she has no spine from where the ribcage ends to the top of her pelvis. So, this is the most severe form of this condition. It is very uncommon, but it is also very debilitating.
What does it do to her?
Dr. Polly: Alana has no function below the waist in terms of muscle function, but in addition to not having a spine to hold her up, her ribcage collapses down on her pelvis and she has to use her hands to hold herself up to sit up and to interact. Because of this, the abdominal contents are squeezed. So, her gastric contents, intestines and bladder, experience excessive compression from the body collapsing down onto it. It impairs her function. It makes it a little harder for her to eat. She does not have normal control of her bowel and bladder.
Is it painful for her?
Dr. Polly: Well, it is not painful except that she has trouble with activities of daily living that she has to push up with her hands to sit and sometimes to interact with her environment and that has made it a little bit harder for her. If this goes on too long, this sort of visceral squish that occurs becomes more and more problematic. So, initially when she was a very young child this was not as much of a problem to her. However, as she got older, it got to become more problematic.
So she has legs, but they just do not function because there is no signal, correct?
Dr. Polly: Correct.
So, what did you decide to do? What was your plan of attack to help her?
Dr. Polly: So, the fortunate thing for Alana is I had seen a child with a similar problem in the mid-1990s when I was at Walter Reed and the Chief of Spine Surgery there. We figured out a way to build a spine for this child by using bone graft from the bone bank and we took a rib that was still attached to the blood vessels and swung it down along with it. So, that is the creative part of this operation. Previously, the described treatment of this had been to amputate the legs and then to use the leg bones to create a spine. The first child that I saw with this, the family had no interest in having the legs taken off and so we had to find a way without doing that to create a spine for this child. When we did it the first time, it worked reasonably well. So, I thought it was a good solution for Alana, both she and her parents agreed.
How did you make a rib into a spine?
Dr. Polly: So, we have to create a way to connect the pelvis to the spine and so that in almost all mammalian beings you have a connection that holds the overall spine up so that the head can interact with the environment and the world. In her case, all of this was missing; so we took a structural piece of bone from the bone bank that someone kindly donated and we screwed it in at the top and the bottom. That is easy to do, but it does not always heal. So, we cut a piece of rib and then leaving it attached to the blood vessels, swing it down so it could bring blood supply and healing to the spine. So, that is the creative part, using the vascularized rib along with the structural allograft bone and then putting it together with screws and rods.
Those blood supplies, does that eventually find its way to the spine or do you in surgery make connections so that it can connect?
Dr. Polly: No. It is called a local rotational flap as opposed to a free vascularized flap, like if someone cuts off their arm and you sew it all back together. The blood vessels were still connected; so we did not have to do a micro vascular anastomosis and it makes it a little more likely that it will heal by not having to do that. The other part of this operation that is tricky is that her aorta and vena cava, her major blood vessels that run through the abdomen, we are stretching those out as we lengthen her up and you cannot stretch too much. We have learned a trick over the years to put what is called a pulse oximeter on the toe and when the pulse pressure starts to dampen that tells us that the aorta and vena cava have been stretched as much as they want to take. There are several, unusual aspects to this surgery.
The new spine and the rib, they are not fused together at all and they do not have to be connected, correct?
Dr. Polly: Well, they will all grow together and become her bone over time. If we just use the bone bank, the healing rate is not very good. However, by bringing the rib along to that bone, the bone will grow together and then she will make it her own bone much faster.
It happens naturally?
Dr. Polly: Correct.
What has her life been like since her operation?
Dr. Polly: So, she had to get a new wheelchair because she was so much taller than she was before. It took her a little while to get used to that and then she has been back to school. She has been back to see me and doing very well. She has an interesting way of getting around. A lot of these children scoot initially; she is getting big enough now that she does not like scooting and so she actually walks on her hands like a gymnast. She puts a lot of stress on that reconstructed spine and there is going to be a race between healing and her pulling her screws loose and I am hoping the healing wins.
So, what is next for her? Is there more procedures that will help her get around better?
Dr. Polly: Unfortunately, we do not have a way to create a spinal cord for her yet. One of my colleagues is working on developing stem cells that hopefully will allow spinal cord injuries to be healed, but we have not yet figured out how to grow a spinal cord where there is not one. That is what it would take to make her legs work. However, we will probably go back in and lengthen her spine 1 or 2 times to give her more room for her abdominal contents as she grows.
So, the problems that she was facing before with everything being squished, have gotten better?
Dr. Polly: Yes. She is finding it a little easier to eat now and she has a little bit better bowel and bladder control because she is not squeezing things down. She does not have to use her hands anymore to sit up and push up and help herself take deep breaths.
How does it make you feel?
Dr. Polly: Taking care of children who have complex problems through no fault of their own and helping to make a difference for them is about as special as what we get to do and she is a very special young lady and being able to do this for her, is extremely gratifying.
How many kids have it?
Dr. Polly: So, it has been hard to try to get numbers on this. In terms of reported cases in the literature of this severity, there are maybe 35 that have been reported. There are 12 in one report and 25 in another and it is not clear to me that all of them are the Type 4, which is what she is and that is the most severe form.
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