The weekend newspaper had a small article about a young girl who suffers from a disease called Fibro Muscular Dysplasia. FMD is a disease that causes arteries to have irregular cell development, causing the artery to become narrow in some places. When the artery becomes narrow enough, blood flow slows down and symptoms of FMD occur.
Ashleigh's form of the disease causes her blood pressure to soar dangerously high. This has taken a toll on her kidneys; her right kidney functions at less than 30 percent, and her left 60 percent. She suffers daily from pain and migraines, but cannot take pain medication due to her condition. In addition, Ashleigh has a spine condition called spondylolithosis, causing her spine to bend 39 degrees off centre. She may need to have a steel rod inserted into her vertebrae to help to correct it. US doctors believe there may be a link between Ashleigh's artery disease and spine disease.
The article caught my attention as my daughter Rachel also has had a rare illness from birth. The article went on to describe how Ashleigh Botha needed to have urgent treatment and bypass surgery in Cleveland, Ohio; a long distance from where we live in South Africa. I immediately phone the number in the article, and donated jewellery from my shop to assist with fundraising. My next thought was to reach out internationally through social media networks. After posting a photo of Ashleigh and her plight, I was saddened to receive a message from a well known network marketer in Kentucky, saying that he is "a very busy man and has no time for this". While gathering my thought and emotions, another message suddenly appeared from a friend in Ohio named Sherri Fuller. Within minutes she had called me to offer their help for Ashleigh. Her husband Ray Fuller is the Blues Guitarist in Columbus, having shared the stage with with Stevie Ray Vaughn, BB King, Muddy Waters and other legends.
Soon Ashleigh was on her way from South Africa to the USA. Another kind and wonderful friend in America, Kari Ulrich, who also suffers from the same illness, was there to assist Ashleigh in every way that she could. After an exhausting few flights and in a very weak condition, she arrived at the Cleveland Clinic, where she underwent tests and renal bypass surgery. While in hospital, Sherri and Ray drove from Columbus to Cleveland to visit and lift Ashleigh's spirits. A kind act of compassion to be followed by their ongoing generosity towards Ashleigh - a young foreigner from a distant country.
As Ashleigh recovered, Ray Fuller sat in the hospital room and sang one of his songs to her. Within a few weeks, Ray and Sherri had rallied the help of other musicians and arranged a benefit concert to aid Ashleigh's growing hospital bills. On the 23rd of August 2009 they performed this concert in Columbus. This was the beginning of what would eventually bring Ray and Sherri all the way from America to South Africa. In April 2010 they arrived on African soil to perform yet another benefit concert for Ashleigh Botha in our home town of Port Elizabeth. The kindness, compassion and willingness of this couple to give their help is a quality so rare and wonderful.
Ashleigh is scheduled for another trip soon to the US in November 2011. Another concert for Ashleigh has been arranged by Ray and Sherri featuring Ray Fuller & The Bluesrockers, Big Bill Morganfield, (the son of Muddy Waters), Sean Carney Band, The Petcrow Band at the Woodlands Tavern in the USA.
"We can do no great things, only small things with great love"
Mother Teresa
Ashleigh Botha 18 Has been ill since the age of 11, but it took numerous doctors over 4 years to diagnose her illness as Intimal fibromuscular Dysplasia, a very rare form of the rare disease called Fibromuscular Dysplasia (FMD). Intimal FMD is far more aggressive and progressive than FMD, and extremely difficult to treat and control, with only 2 known cases in the world. This disease causes the inside of the arteries to grow closed with a long, smooth narrowing, called stenosis, reducing blood flow to all major organs, causing function loss, damage, and further complications. If this narrowing is not treated in time and the artery grows completely closed, it could be fatal to Ashleigh.
Fibromuscular Dysplasia cannot be cured, but can be controlled through regular and thorough testing of all arteries, enabling doctors to immediately operate on the artery and restore blood flow to the organs. In Fibromuscular Dysplasia, the cells in the arteries grow like a string of beads, which still allows a bit of blood flow through the artery, and usually only affects one or two arteries. Once these arteries are treated, they remain open.
The Intimal form of FMD, which Ashleigh, has causes her arteries to stenos (grow closed) within 3 months, and her arteries are far more fragile. The more Ashleigh’s arteries are treated, the faster they grow closed. Doctors in South Africa do not have the knowledge, equipment or testing facilities to correctly treat Intimal FMD, and we cannot risk our daughter’s life allowing them to attempt operating on her, as any incorrect treatment could be fatal. If Intimal FMD it is not managed correctly, there can be major complications, causing aneurysms, artery dissection, strokes and heart attacks.
Ashleigh’s arteries cannot be stitched, after being operated on, and if an inexperienced doctor nicked an artery accidentally, he would not be able to save Ashleigh from bleeding to death. When Ashleigh has angiograms (a camera inserted into her artery with a catheter), or angioplasty (when a balloon is inserted into an artery and blown up to try and stretch the artery open), surgeons use a Star Closure device to close the artery, together with pressure bandages from her feet to under her arms, which are kept on for 12 hours. As far as Ashleigh’s doctors in USA and SA know there are no other South African patients with Intimal FMD, nor have there been any before, and our SA doctorsdo not have enough knowledge, or the time to learn about it to treat just one patient.
In 2009, after 7 angioplasties to her right renal artery, Ashleigh had a self medicating stent inserted into her renal artery by doctors in SA, which was not the correct treatment. The SA doctors hoped the stent would keep the artery open and the self medication in it prevent the artery growing closed, but Ashleigh’s body rejected the metal stent and her artery crushed it, within 3 months of it being inserted. This resulted in doctors at Cleveland Clinic, Ohio, USA, having to bypass this artery completely, using a vein from Ashleigh’s leg, as there were no doctors in South Africa who could help her.
Cleveland Clinic has the only specialised FMD unit consisting of specialists in their own fields, who also have knowledge of FMD, which affects many different parts of the body. These doctors at Cleveland Clinic have special testing facilities and theatres for treating FMD, and even they referred to Ashleigh as a most unusual and complicated case. They also discovered that every artery in Ashleigh’s body is showing signs of Intimal FMD, after doing a 3 hour arteriogram, which is why they had to use a vein from her leg for her aorta renal bypass. Doctors expected this vein graft to last for 20 to 30 years, as FMD only affects arteries and not veins.
Ashleigh now needs to return Cleveland Clinic very urgently to have her mesenteric artery, which grew closed from 60% to 95% within 3 months, bypassed to restore blood flow to her digestive organs. Ashleigh is unable to eat much and suffers dreadful abdominal pains after eating or drinking. This has caused rapid weight loss and Ashleigh is very weak, always tired and has no strength or energy as she is not getting enough nutrition. During this bypass, the surgeons will also attempt repairs to her aorta where her celiac and mesenteric artery, have the same origin. Her renal bypass, after only 7 months, dilated to four times its size and has a very bad narrowing where it enters the kidney and needs to be attended to. It is difficult for Cleveland Clinic to give us a complete quotation for Ashleigh's treatment and surgery, before the doctors have seen her, and determined how much work is needed to her arteries. Her surgeons are not happy about having to delay this surgery, as Ashleigh could become too weak to have it, or the mesenteric artery could grow closed completely.
Expenses to take Ashleigh to Cleveland in 2009 amounted to R1.4 million, and only a small portion of this was for travelling, accommodation and living costs. We need to raise our own funds to pay for Ashleigh’s medical expenses in Cleveland. The doctors there work for the hospital and we have to pay the full 100% amount upfront before Ashleigh can even get an appointment, have tests performed, or book a theatre for her surgery.
Fibromuscular Dysplasia cannot be cured, but can be controlled through regular and thorough testing of all arteries, enabling doctors to immediately operate on the artery and restore blood flow to the organs. In Fibromuscular Dysplasia, the cells in the arteries grow like a string of beads, which still allows a bit of blood flow through the artery, and usually only affects one or two arteries. Once these arteries are treated, they remain open.
The Intimal form of FMD, which Ashleigh, has causes her arteries to stenos (grow closed) within 3 months, and her arteries are far more fragile. The more Ashleigh’s arteries are treated, the faster they grow closed. Doctors in South Africa do not have the knowledge, equipment or testing facilities to correctly treat Intimal FMD, and we cannot risk our daughter’s life allowing them to attempt operating on her, as any incorrect treatment could be fatal. If Intimal FMD it is not managed correctly, there can be major complications, causing aneurysms, artery dissection, strokes and heart attacks.
Ashleigh’s arteries cannot be stitched, after being operated on, and if an inexperienced doctor nicked an artery accidentally, he would not be able to save Ashleigh from bleeding to death. When Ashleigh has angiograms (a camera inserted into her artery with a catheter), or angioplasty (when a balloon is inserted into an artery and blown up to try and stretch the artery open), surgeons use a Star Closure device to close the artery, together with pressure bandages from her feet to under her arms, which are kept on for 12 hours. As far as Ashleigh’s doctors in USA and SA know there are no other South African patients with Intimal FMD, nor have there been any before, and our SA doctorsdo not have enough knowledge, or the time to learn about it to treat just one patient.
In 2009, after 7 angioplasties to her right renal artery, Ashleigh had a self medicating stent inserted into her renal artery by doctors in SA, which was not the correct treatment. The SA doctors hoped the stent would keep the artery open and the self medication in it prevent the artery growing closed, but Ashleigh’s body rejected the metal stent and her artery crushed it, within 3 months of it being inserted. This resulted in doctors at Cleveland Clinic, Ohio, USA, having to bypass this artery completely, using a vein from Ashleigh’s leg, as there were no doctors in South Africa who could help her.
Cleveland Clinic has the only specialised FMD unit consisting of specialists in their own fields, who also have knowledge of FMD, which affects many different parts of the body. These doctors at Cleveland Clinic have special testing facilities and theatres for treating FMD, and even they referred to Ashleigh as a most unusual and complicated case. They also discovered that every artery in Ashleigh’s body is showing signs of Intimal FMD, after doing a 3 hour arteriogram, which is why they had to use a vein from her leg for her aorta renal bypass. Doctors expected this vein graft to last for 20 to 30 years, as FMD only affects arteries and not veins.
Ashleigh now needs to return Cleveland Clinic very urgently to have her mesenteric artery, which grew closed from 60% to 95% within 3 months, bypassed to restore blood flow to her digestive organs. Ashleigh is unable to eat much and suffers dreadful abdominal pains after eating or drinking. This has caused rapid weight loss and Ashleigh is very weak, always tired and has no strength or energy as she is not getting enough nutrition. During this bypass, the surgeons will also attempt repairs to her aorta where her celiac and mesenteric artery, have the same origin. Her renal bypass, after only 7 months, dilated to four times its size and has a very bad narrowing where it enters the kidney and needs to be attended to. It is difficult for Cleveland Clinic to give us a complete quotation for Ashleigh's treatment and surgery, before the doctors have seen her, and determined how much work is needed to her arteries. Her surgeons are not happy about having to delay this surgery, as Ashleigh could become too weak to have it, or the mesenteric artery could grow closed completely.
Expenses to take Ashleigh to Cleveland in 2009 amounted to R1.4 million, and only a small portion of this was for travelling, accommodation and living costs. We need to raise our own funds to pay for Ashleigh’s medical expenses in Cleveland. The doctors there work for the hospital and we have to pay the full 100% amount upfront before Ashleigh can even get an appointment, have tests performed, or book a theatre for her surgery.
We are motivating with our medical Aid to urgently assist us with some of the medical costs, but their rules do not allow this, and they do not normally relax this ruling for any patients. Our Medical Aid also does not have Ashleigh’s disease on their data base of rare diseases, so we also have to pay for a lot of her
medication, tests and treatment here in S.A. The FMD Association of America has written to our SA Government requesting them to recognize FMD as a rare disease, but this has still not been done. We are a family of 5 and in a very desperate and stressful situation as we still have a lot of debt from Ashleigh’s surgery in 2009, where we only managed to fundraise R370 000. Ashleigh has to fly to Cape Town every 10 to 12 weeks to consult with her Spinal Professor and vascular surgeons, and we have to pay for these flights, car hire and accommodation. Ashleigh is unable to travel far by car, as the base of her spine has crumbled and is unstable, causing her dreadful pain.
Ashleigh suffers extremely high blood pressure, severe headaches, frequent migraines, dizziness, weight loss, abdominal pain and burning, always feels cold, weakness, numbness and pain. She has lost sensation in her hands to feel heat or cold, so often burns herself. She continually feels ill, dreadfully tired and has no energy, but does not look as though she is this desperately ill from the outside, which is very deceiving to people, especially when they see photographs of her modelling. She is only able to manage to do anything for 2 to 3 hours, before needing a long rest, which means she is unable to attend school much, and has been mainly self studying at home since grade 10.
In addition to her Intimal Fmd, Ashleigh also has Spondylolithesis which has caused her spine to become unstable at the base where vertebra have slipped and crumbled and caused spinal stenosis. This has caused a 40 degree scoliosis (curvature of the spine). If Ashleigh was healthy, Her Spinal Professor would operate and insert a titanium rod, with screws coming off it, into the spine, and the screws are adjusted as the curve in the spine worsens. In Ashleigh’s case, this is not possible because of her vascular problems, and renal bypass in the area he needs to operate on, and an anesthetist would be reluctant to put Ashleigh under anesthetic for so long. Ashleigh suffers severe pain in her back and neck, muscle spasms, thigh and leg pains, and weakness, and is unable to have any pain medication or anti-inflammatories so has to live with the constant, unbearable pain.
Nearly every rare disease has many different offshoots, caused by the main disease. Ashleigh’s eye sight has deteriorated rapidly in a short space of time. It is always difficult for doctors when treating patients with rare diseases, as there are so many different symptoms, which may just be a common cold, or something really serious or dangerous.
Ashleigh suffers extremely high blood pressure, severe headaches, frequent migraines, dizziness, weight loss, abdominal pain and burning, always feels cold, weakness, numbness and pain. She has lost sensation in her hands to feel heat or cold, so often burns herself. She continually feels ill, dreadfully tired and has no energy, but does not look as though she is this desperately ill from the outside, which is very deceiving to people, especially when they see photographs of her modelling. She is only able to manage to do anything for 2 to 3 hours, before needing a long rest, which means she is unable to attend school much, and has been mainly self studying at home since grade 10.
In addition to her Intimal Fmd, Ashleigh also has Spondylolithesis which has caused her spine to become unstable at the base where vertebra have slipped and crumbled and caused spinal stenosis. This has caused a 40 degree scoliosis (curvature of the spine). If Ashleigh was healthy, Her Spinal Professor would operate and insert a titanium rod, with screws coming off it, into the spine, and the screws are adjusted as the curve in the spine worsens. In Ashleigh’s case, this is not possible because of her vascular problems, and renal bypass in the area he needs to operate on, and an anesthetist would be reluctant to put Ashleigh under anesthetic for so long. Ashleigh suffers severe pain in her back and neck, muscle spasms, thigh and leg pains, and weakness, and is unable to have any pain medication or anti-inflammatories so has to live with the constant, unbearable pain.
Nearly every rare disease has many different offshoots, caused by the main disease. Ashleigh’s eye sight has deteriorated rapidly in a short space of time. It is always difficult for doctors when treating patients with rare diseases, as there are so many different symptoms, which may just be a common cold, or something really serious or dangerous.
www.helphealashleigh.com
I have a son with disabilities that are rare and painful and.... It is with love that we get through and it is great when we can reach out to help others.
ReplyDeleteCONGRATULATIONS ON AN EXCELLENTLY WRITTEN ARTICLE.
ReplyDeleteT H A N K Y O U !
for coming into our lives and creating this wonderful circle, and precious friends, bringing us all together to help each other.
YOU, ELLEN AND RACHEL did so much to help us get to Cleveland, even down to lending us suitcases, which we had not even thought of, as well as all the other things you and Ellen helped with which had not even crossed my mind. With all of your and Rachel's health problems you still had time to open your hearts to strangers. We thank you for blessing our lives with your friendship.