When nervous system disorders are present at birth, patients seek treatment from pediatric neurosurgeons, pediatric neurologists and pediatric rehabilitation specialists. But when those same conditions appear later in life, patients often don't know where to turn. The neurosurgery program at the University of Chicago Medicine is one of the few programs in the country dedicated to providing comprehensive care for children and adults with congenital anomalies of the central nervous system (CNS).

The Margaret Hackett Family Program

The Margaret Hackett Family Program here at the University of Chicago is just one part of the Margaret Hackett Family Center.

The Margaret Hackett Family Program support parents at a time when they need it most.After parents have received the news that their child has a neurologic condition, they really need education what's to be expected, and how can I connect with other families and parents?And how do I find the experts? Where do I find hope? Where do I find comfort? The Margaret Hackett Family Program hopes to deliver all those things to all these families.

When I was 17 years old, I was diagnosed with a syringomyelia, which was a condition that ultimately put me in the wheelchair, that combined with the fact that when I graduated from high school, I still had a lot more work that needed to be done. And I had several more operations. So it really put a halt to everything in my life.

Margaret and her family went to a conference with MRI's in-hand looking for someone to treat Margaret and her complicated health care.That's how they came to know Dr. David Frim.

Her parents were enthusiastically trying to find some doctor or some group of doctors that could help Margaret. One of my friends, a neurosurgeon bumped into Margaret's parents at a convention and said, well, you live in Chicago. Why don't you just go see David Frim? He's there already.

We are the University of Chicago. So much is devoted to moving fields forward. We use our training and intellectual capacity to think of how we can treat and make someone better. The Margaret Hackett Foundation came about because of the Margaret's family who wanted to give them back to all the doctors, and nurses, and other caretakers that had been so close to Margaret and continue to be so.

The Margaret Hackett Family Center is designed to provide hope and resources to patients and families who find themselves in a similar situation as we found ourselves when Margaret was first diagnosed.

It is absolutely our desire to help others on their path under their journey. And it's not just about Margaret or the parents. It really is about the entire family.

Part of the foundation is advocacy, where we partner with organizations, so that children should be able to be as good as they can be.

The support and advocacy achieved through the program is focused on finding the experts and sharing hope and comfort through knowledge and experience and providing answers to both patients and parents.The program can help identify community groups or support groups for their particular neurologic condition.

It's to take care of each one of those children, or their siblings, or their parents.That's really what we're here for.

Learn more about the Margaret Hackett Family Program:

Congenital Anomalies We Treat

[MUSIC PLAYING] The best that we can do is to try our hardest to make sure that every child can be as normal as possible, able to play with their friends, able to go to school, and able to be as happy as possible given the constraints of whatever medical problem that they have. There are many specific congenital anomalies that we treat. Some of them are common, though many of them are not common.

Hydrocephalus is the Greek word for too much fluid in the brain. The brain makes fluid and allows it to circulate around the brain and into the spine. We're getting closer and closer to being able to make the fluid either not be made or made in a way that we can control. Another congenital anomaly that we treat is called Chiari malformation. This is an anomaly that is relatively common where, in fact, the brain seems to be quite big, and the bones around it seem to be quite small.

We have an operation that we do for that where we enlarge part of the head by removing some of the bone. We're in a situation now where we can see the Chiari malformation well and follow it. And sometimes, the children actually grow out of it, or, in fact, they don't have any symptoms, and so we generally leave them alone. But that decision is one that takes quite a bit of evaluation and quite a bit of discussion with the family of a child who has this, because there are certainly difficulties that can arise.

Another congenital anomaly is something called a syrinx. That's a Greek word meaning that the fluid that's building up inside the spinal cord will cause a problem with the spinal cord and stretch it until the spinal cord begins to malfunction. We have a variety of ways to place some sort of drainage tube so that the fluid can actually mix from inside the spinal cord to end up outside the spinal cord, where it can be reabsorbed.

Another congenital anomaly that occurs in the spine is what we call spina bifida. The bones in the spine have opened up, usually in the back part of the bones and the spaces in between. As we look deeper and deeper into the spine, we find that there's other problems that are beneath the abnormal bones, especially what we call a tethered spinal cord, where the spinal cord somehow is scarred to the bottom of the spine. And as the child grows, the spinal cord itself doesn't move upwards towards the head, as is the usual, but ends up being stretched out. Fortunately, that can also be fixed by a surgery that releases the spinal cord from the bottom of the spine, allowing it to move freely.

There are certainly congenital anomalies that occur in the skull. One of those problems is something called craniosynostosis, which is a Greek rendition of when the bones of the skull knit together too soon. And so the parts of the skull that should be growing stop growing. And the brain finds itself in a problem of how to allow the brain to be as big as it needs to.

There is a very complicated congenital anomaly called myelomenigocele. It's when a child is born where the spinal cord is somehow tethered to the bottom of the spine all the way to the anal fissure. We find these children because oftentimes, the skin and the bones in the bottom of the spine didn't grow appropriately, and the children are born actually with a hole in the bottom of their spine. Fortunately, the ability to close the hole before the baby comes out of the mother has made this a lot safer. And many of those children do get function that they otherwise would not have gotten.

There are also other congenital anomalies that are very rare. Those are anomalies of the skull that force the skull to overgrow, and the brain continues to get somewhat compressed. The bone grows inward just as much as it grows outward. That's a very difficult problem. Fortunately, for many of the children who have that kind of congenital anomaly, there's a point where they become adults. And in fact, the bony overgrowth slows down and oftentimes stop. There's also a medication that can be used to slow down the growth of the bone. We treat almost every congenital anomaly that we bump into. That's really what we're here for.

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CNS congenital anomalies are birth defects of the physical structure of the brain or spinal cord that develop in utero, or when a fetus is developing during pregnancy. This blanket term encompasses a broad range of disorders and medical conditions, from minor abnormalities to severe ones. There are other congenital anomalies that impact the growth or development of the central nervous system and are often considered central nervous system diseases.

Some congenital anomalies we treat:

In addition, UChicago Medicine is home to nationally known programs for adults with neurofibromatosis and tuberous sclerosis.

A wide range of factors can contribute to CNS congenital anomalies, such as:

  • Genetic factors
  • Exposure to substances such as alcohol, drugs, medications, environmental toxins or other toxins
  • Certain viruses that infect the baby while in the womb

However, in many cases there are no known or identifiable causes.

Symptoms of CNS congenital anomalies will vary depending on the nature and severity of the condition and can be different for everyone.

Some physical challenges can include:

  • Loss of strength and movement
  • Cognitive weakness
  • Stiffness and spasticity
  • Progressive loss of bodily functions and autonomic control
  • Delayed growth
  • Severe pain

At UChicago Medicine, adult patients have access to the same team of experts that treats these conditions in children. As a result, they receive compassionate care from skilled physicians who understand the complexities of congenital anomalies, yet recognize the unique challenges that adult patients can face.

In some cases, surgery may be recommended to: 

  • Relieve symptoms 
  • Correct the function and form of the brain and/or the structure of the spine 
  • Maximize cognitive motor function 
  • Prevent development or progression of neurological deficits 

Our team will evaluate and perform a variety of tests to the find the best treatment option to help patients achieve the best physical and psychological condition possible. 

The resources listed below provide additional information about some common congenital anomalies of the nervous system.

For Spina Bifida, Tethered Spinal Cord & Other Congenital Malformations of the Spine:

For Hydrocephalus:

For Chiari Malformation & Syringomyelia:

The University of Chicago Medicine provides links to other organizations as a service to our site visitors. We are not responsible for information or services provided on other websites.

For more information about CNS congenital anomalies and the Margaret Hackett Family Program, email mhfcp@bsd.uchicago.edu or call 773-795-0622.

Hackett Family

Neurosurgeon treats rare central nervous system disorders

After several surgeries, a family turned to UChicago Medicine to treat their daughter's rare central nervous system congenital anomalies.

Read more about Margaret's story

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