NEW ORLEANS, LA ( Ivanhoe Newswire) - Born with sickle cell and sick from lupus, a young woman is given a second chance after a breakthrough procedure cures her of both.
Madison Tully was born with sickle cell, then a few years ago, she was diagnosed with lupus.
"I would just like scream all the time. I couldn't help it," Madison told Ivanhoe.
"It was extremely hard. We sat there and we couldn't do anything. As a dad, you want to fix everything and I couldn't fix it.," Jeff Tully, Madison's father, told said
He couldn't but something did. Today, Madison is cured from not one, but two deadly diseases. This 16 year old had few options for recovery including a risky bone marrow transplant rarely done for sickle cell patients and not an option for most lupus sufferers.
"It's very rare to have a match for anyone with sickle cell," Julie Kanter, MD, Director of Sickle Cell Center of Southern Louisiana and Assistant Professor of Pediatric Hematology-Oncology at Tulane University School of Medicine, explained.
There was another obstacle, Madison needed a perfect bone marrow match but, Madison was adopted. Luckily, she made contact with her biological sister.
"We started texting and then one day when I was really, really sick, we just asked her for the favor," Madison said.
Tulane University's Dr. Julie Kanter tried the first documented case of using a bone marrow transplant to rid Madison of both diseases. There was an 85% chance of a cure but a 25% risk of death.
"Madison was in such severe pain she understood the risk herself, but was in such severe pain, that she knew this was not a way she wanted to live, " Dr. Kanter said.
After weeks of chemotherapy, then immuno-therapy the transplant was done.
"It took five months after the transplant to actually feel it," Madison said.
A year later, Madison is cured!
"She has no evidence of either in her body and what's remarkable about Madison is we've done biopsies of her kidneys where her lupus was most severe and we actually see a reversal of the organ dysfunction there," Dr. Kanter said.
Now, Madison's focused on graduating and becoming a nurse.
"When people were helping me it made me feel good so I want to help people," Madison said.
Now her dad has other things to worry about.
"Not the graduating, not the driving, it's the male species, that may be my biggest fear right now," Jeff said.
Having both lupus and sickle cell is extremely rare. There are only a dozen documented cases in the world. Doctors learned information from Madison's procedure that may improve the process of bone marrow transplant for sickle cell disease. They hope Madison's recovery will encourage patients with severe lupus to consider bone marrow transplant as a treatment alternative.
BACKGROUND: Sickle cell disease changes normal, round red blood cells into cells that can be shaped like crescent moons. The name comes from the crescent shape of the cells. A sickle is a farm tool with a curved blade that can cut crops like wheat. Normal red blood cells move easily through the blood vessels, taking oxygen to every part of the body. Sickle cells can get stuck and block blood vessels which stops the oxygen from getting through. This can cause pain and harm to organs, muscles and organs. Patients are diagnosed with the disease with a simple blood test. Aside from causing pain, the disease can also lead to anemia, stroke and infections. (www.webmd.com)
Lupus is a chronic inflammatory disease that occurs when the body's immune system attacks the body's tissue and organs. Inflammation caused by lupus can affect different body systems such as the joints, skin, kidneys, blood cells, brain, heart and lungs. Some people are born with a tendency toward developing lupus, which may be triggered by infections, certain drugs or even sunlight. While there's no cure for lupus, treatments can help control symptoms. (www.mayoclinic.com)
SYMPTOMS: Pain is the most common system in individuals with sickle cell disease. The sickled cells get stuck in the blood vessels and block the blood flow causing pain in the hands, feet, belly, back or chest. This pain can last up to hours or even days. People with sickle cell disease often have anemia, caused by a shortage of red blood cells. This causes the individual to be weak or tired and may even look pale or washed out. (www.webmd.com)
The most common signs of lupus include: fatigue and fever; joint pain, stiffness and swelling; butterfly shaped rash on the face that covers the cheeks and bridge of the nose; skin lesions; shortness of breath; chest pain; dry eyes; headaches, confusion and memory loss. (www.mayoclinic.com)
BONE MARROW TRANSPLANT: Bone marrow transplant is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Bone marrow is a soft, fatty tissue inside the bones. Stem cells are immature cells in the bone marrow that give rise to all the blood cells. There are three types of bone marrow transplants: autologous, allogenic and umbilical cord blood transplant. Autologous removes stem cells before receiving high-dosage of chemotherapy and radiation. After the treatment, stem cells are put back into the body. Allegonic is when stem cells are removed from a donor. Lastly, the umbilical cord blood transplant is done by removing the stem cells from the umbilical cord of a new born baby. Since they are so immature, there is a less of a concern if they will match. Bone marrow is removed from the hip while being under general anesthesia. (www.nlm.nih.gov)
Dr. Julie Kanter, Pediatric Hematologist, Oncologist, Director of Sickle Cell Center of Southern Louisiana and Interim Director of Pediatric Bone Marrow Transplant, discusses a bone marrow transplant for a child with Lupus and Sickle Cell disease.
Madison was a rare case for you.
Dr. Kanter: Madison was a very rare case.
There's only like a handful in the whole world that has Lupus and Sickle Cell?
Dr. Kanter: Correct and it's possible that there are others that are undiagnosed that have some form of rheumatologic condition in addition to Sickle Cell disease but it is very rare.
In Lupus and Sickle Cell there is no cure?
Dr. Kanter: Well there is a cure, you can actually do a bone marrow transplant and cure both of them.
To do that is it very rare to get a match?
Dr. Kanter: It's very rare to have a match with any patient with Sickle Cell Disease and that's because there are fewer matches for African/Americans and most people with Sickle Cell are African/American.
And there were a lot of things against Madison.
Dr. Kanter: In Madison's case she actually is a mixed ethnicity and that is even harder to match and so we got very lucky in her case.
She is actually adopted isn't she?
Dr. Kanter: She's adopted we are just unbelievably fortunate that they maintained an open adoption so we had her contacts and the family was familiar with her biologic mother and then she had a biologic sibling.
Did you test her mother first?
Dr. Kanter: We didn't it's actually better to go out and test the sibling right away and her sibling Jasmine was willing to be tested and was really excited about being able to help Madison.
When you first saw Madison was she really sick?
Dr. Kanter: She wasn't initially Madison actually had done well for years with her Sickle Cell Disease and if anything was a little lack-a-dasical on her follow up and then became very ill. And when we started testing to figure out what had happened to her we learned that she had Lupus as well as Sickle Cell Disease.
Is it rare for a child to have Lupus?
Dr. Kanter: We see a handful of children with Lupus or other rheumatologic conditions so I wouldn't say it's rare but it's very rare to have the combination.
Without a bone marrow transplant what is her future like?
Dr. Kanter: In Madison's case I think she would have died without one. In fact she was a very high risk transplant. We try to have patients sort of in the best possible state of health headed in to bone marrow transplant and Madison was not. She was very sick, she was having intractable pain, she was on high dose steroids. But she was in so much discomfort that we couldn't get her off of any of those medications and receiving extraordinary immune suppressive therapy which was going to put her at high risk of having severe complications.
Was it the Sickle Cell or the Lupus that was making her so sick?
Dr. Kanter: The interaction of the two, so both Sickle Cell and Lupus are inflammatory conditions one causes the other to get worse. So patients with Lupus will get worse if they have another inflammatory condition and visa versa so she had both problems feeding off of each other.
So what was the chance that the bone marrow transplant would take and work for her?
Dr. Kanter: Prior to it actually happening the chance of cure is eighty five percent so very, very high. The biggest problem in patients such as Madison is what we call graft rejection or her body not accepting the donor but we didn't have that problem.
So exactly what did you have to do?
Dr. Kanter: We did additional therapy for her we did immuno therapy as well as the routine preparative chemo therapy for bone marrow transplant. It was very successful she did very well, she had a few complications and continues to have some.
What are the complications?
Dr. Kanter: She's had some complications, the major one at the moment that we're dealing with is her hip. She has a complication called avascular necrosis where the part of her leg that connects to the hip had died, the bone has died and she may need a hip replacement. She's also had some significant complications in terms of her hormones. Her body is actively in menopause which is rare for a sixteen year old.
She's so young, all of these things for a kid.
Dr. Kanter: It's a lot and Madison has really dealt with it with a lot of grace.
How soon after the transplant did some of her other symptoms start to go away?
Dr. Kanter: Slowly, it took about a couple of months. The first three months for anybody after transplant are pretty rough so it took about three months for her to feel better. It took about three months, the first three months of transplant are fairly rough and after about those first three months she started improving in all categories.
With this bone marrow transplant will she have to take antirejection drugs for the rest of her life?
Dr. Kanter: No, in fact she is already off of all her immune suppressive therapy. Once you kind of achieve the balance between the new bone marrow and the person with whom has accepted it you don't need to continue those medications.
Is there a chance any of these things will come back?
Dr. Kanter: There's a chance it's pretty rare at this point. I told her she had about a ninety five percent chance at this point of being completely cured from both diseases. She has no evidence of either in her body. And one of the remarkable things about Madison is that we have actually done biopsies of her kidneys where her Lupus was most severe and we've actually seen a reversible of the organ dysfunction there.
Is that amazing for you that you've done something so rare and it's for such a young girl?
Dr. Kanter: I'm just really excited. I'm very pleased, she was really sick she made me very nervous because she was so sick headed in to transplant. So I'm thrilled that she's doing as well as she is. She looks and feels fantastic.
If she had just had Lupus would you have done it this way?
Dr. Kanter: If she had just had Lupus we probably would not have pursued a bone marrow transplant. Now in the future that may be an option for severe patients. And we're talking about starting protocol here for those very severe patients. It's been done but it's very experimental. In Sickle Cell Disease transplant is still experimental but it's being done more and more and so the combination to me made it an easy decision but in terms of just for Lupus alone no we wouldn't have done it.
How did you arrive at this, was it a lot of internal discussion or conflict about it because this was such a rare case? Was this a novel idea to treat her this way because this is the first time this has been reported in the medical literature?
Dr. Kanter: Well it's the first time it's been reported to have been done medically. Is it novel? It's novel to do it for both conditions. In her case she was very sick and non-responsive to the medications we were using so it's a logical progression of where we were headed. The biggest difference in Madison's case is she was so sick headed in and like I said we like to calm them down a little bit more than she was.
Would there be any downside to doing this, I know there's always a risk of infection.
Dr. Kanter: There's a risk of death actually with bone marrow transplant. With most Sickle Cell patients the risk of complications as severe as death is very low, it's five to ten percent. But with Madison it was a little bit higher because she was so ill and had required so much immune suppressive therapy before we gave her the transplant.
What percent was that?
Dr. Kanter: I told her parents it was closer to twenty five percent headed in.
That's a huge percent when you're headed in.
Dr.Kanter: It's a very big risk. Madison was in such severe pain that she really understood the risk herself and said that this was not a way that she wanted to live.
You're actually submitting this to the New England Journal of Medicine right?
Dr. Kanter: We are. We're actually going to write up her case and submit it to New England Medical Journal as a case report not only because it was successful but also because she had biopsies done of her kidneys that demonstrated improvement in the previously seen organ pathology, which is fairly novel.
FOR MORE INFORMATION, PLEASE CONTACT:
Dr. Julie Kanter Director of Sickle Cell Center of Southern Louisiana Tulane University School of Medicine Sickle Cell Center (504) 988-5413 SCCL@tulane.edu
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