Four days after Dad, a Vietnam and Gulf Wars veteran, passed from Idiopathic Pulmonary Fibrosis, we found out why our princess, Erica, complained about pain. She had previously been diagnosed with “nurse maid elbow.” At the end of the 5 year well check I mentioned that Erica “pops” out her elbow several times a day. She also “pops” out other joints as well. The doctor and the med student ran and got a text book and proceeded to explain to me that she has a rare genetic syndrome called Ehlers-Danlos. Because it is a dominate trait, other people in the family probably have it. After two hours, I finally said I could not take in any more information and left with my head ready to explode. I had not even buried my dad yet and now I have to figure out what this diagnosis means for my 5 year old baby girl and the rest of my family. The doctor scheduled an appointment with a geneticist , Dr. Tinkle, at Cincinnati Children’s Medical Hospital, but we could not get in until May. In the mean time, the pediatrician sent her to receive physical therapy to strengthen the muscles around the joints to help with stability.
What we had found out in the mean time is that Ehlers-Danlos Syndrome (EDS) is a genetic disorder that keeps the cells in the body from making enough collegian. There is not a single place in the body that makes collegian and the body needs it to strengthen tendons, cartilage, bone and other connective tissues such as veins and arteries. There are different types of EDS and our family was diagnoses with Hypermobility type. More information can be found at the National Ehlers-Danlos website at www.ednf.org.
God’s timing is perfect, however, and in April of ‘08, when Erica went to reach for a pencil on the floor, she screamed that she “popped out her neck,” I didn’t think anything of it and gently messaged it back in. I know it sounds ridiculous, but we do this type of thing every day. She had been saying that she had “jumping jelly beans in her fingers and her toes for a while, but I didn’t really understand what it meant and thought I would talk to Dr. Tinkle when I saw him. When we went to the physical therapist the next day, I happened to mention it to her at the end of the session. The therapist nearly had a stroke. She called a doctor which we saw right away. This whole time I thought the therapist was a little crazy. When the doctor said that Erica could either be paralyzed from the neck down and be on a ventilator for the rest of her life or die instantly, I still couldn’t believe it. I called a cousin of mine who is a doctor and asked “Is it this serious or do I need to have a 2X4 upside of my head” to which he quickly said “I will get the board.”
So just when I was getting worried, we were referred to the best surgeons, Dr. Durrani, in the world (no kidding) for this type of problem. Usually it takes a year to get an appointment and we got one in 3 days. It usually takes 6 months to get a surgery time and again it took 3 days! God does like that 3 day thing.
God held her neck together until the doctors could do it with screws. Erica’s tendon, the only tendon that is not suppose to move is at cervical disk 1 and it is joined with disk 2 with this tendon holding the base of the brain to the spinal cord. Any movement of this tendon can cause damage to the spinal cord. When and injury occurs at this high of a level, everything from that level down is affected. When the neurosurgeon that did not want to do the surgery got out of the operating room, he said that it was amazing that she is alive. He argued that this surgery was very risky and he did not see the “evidence” on any of the scans or x-rays. Dr. Durrani was basing his decision on her symptoms (neuropathy, loss of bowel/bladder control, frequent fall, muscle weakness, ect.) Thank God Erica could explain her symptoms in her own way. By the way, the “jumping jellybeans was neuropathy. When the neurosurgeon came out of the surgery, he was as white as a sheet. She said that there was nothing holding her head to her spine and he did not understand why she was alive. He is changing policy at Cincinnati Children’s Hospital because of Erica. By the way, guess where the biggest clinic is for this very rare clinic? You guessed it, right in our neighborhood. Another blessing.
Erica asked why she had to have EDS the other day. I could not tell her why other to say that there is evil in the world. It is only evil that would give a little girl a disease that gives her pain every day, make her have braces on her legs, hands, fingers and require a wheelchair. But God is good and if she has to suffer with this, he has given her the best doctors, the best hospital, the best personality and the best supportive family and friends. She is going to make handicapped something to be envied. She promised not to make fun of her friends for not having a neck brace or wheelchair. God’s grace is sufficient.
Erica now is doing better and we have to remind her not to do somersaults in the living room. She will continue to have an uphill battle, but she is a real fighter. I know that I am bragging, but I know that she will change the world one day, if she hasn’t already. On the one year anniversary of her surgery she learned to ride a 2 wheel bike in her t-ball uniform. There is no better way to say it.
Elizabeth is our oldest child and she is 11. She has also been diagnosed with EDS. Her level of hyper-mobility is less than Erica’s; however, she has problems with her digestive track. She still loves school and church and is known at school as a math wizard. She would like to be a doctor and can already put joints back into place better than most doctors and nurses. Elizabeth is growing into such a beautiful, delightful young lady that it is hard not to brag about her.
CJ was not diagnosed with EDS and he can not pass it on. Life with strong females with major medical problems is not all that it is cracked up to be. This young man has the biggest heart and I am happy to report he is just like his Dad, praise be to God! He struggles with where his place is in the family and we try to give him extra attention.
My mom was diagnosed with EDS which explains the life-long joint pain. After my dad died, she and my family got her house ready to sell. In the process, she hurt her lower back so severely that she needed surgery. She went to the same surgeon that worked on Erica; however, she did not fare as well. We thought she would be in the hospital a couple of days. It turned out that she was in ICU for 18 days and left the hospital after a month. The problem was that she lost the drive to breath. In ICU she was pulled off and on the respirator several times. Finally I called Dr. Tinkle and he explained that when the doctors put the breathing tube in her throat, they stretched the brainstem, therefore, the loss of breathing drive. I am very happy to report that she is fine now and I think that she is better than she has been in years. Again, something that looks like a curse turns out to be a blessing. Mom and have formed a stronger bond that has been another blessing during this trying.
On January 7th I had the same C1-C2 posterior fusion. I did it not so much to get out of pain, but as an insurance policy. The doctors found that I was damaging at least my spinal cord when they did the flexion/extension MRI. They also found a lesion on my brain stem. Dr. Tinkle and Durrani also think this was due to the instability. Before the surgery I was having a lot of trouble with pain, as well as stability and numbness in all areas of my body. I was also passing out, even when seated.
Dr. Tinkle and Dr. Durrani both think that this surgery will reduce the number of my migraines. I still have another surgery to go because I have a disk out at C6. My neurologist, Dr. Guo, thinks that I might have some vascular problems. My blood pressure is still really high, which is the opposite of most people with HEDS. I am on blood pressure meds to control it as well as migraine meds for daily migraines as well as prevention meds to help with the migraines. To be honest, I am just glad to be alive. When I asked Dr. Durrani how bad the instability was, he said that it was not quite as bad as Erica's, but I was still lucky to be alive.
I just found out recently that I will need to have another fusion surgery for the rest of my cervical spine. This surgery is more invasive and does not guarantee that I will not need additional work done to further stabilize my spine and other joints. The one disk that was bad before my surgery has progressed to all of the disks giving way. My neck now curves in the wrong direction. This leads to severe pain, a choking sensation and very limited movement.
Unfortunately, I have had to resign from my position with the church because of all that is going on with our family, but I hope to keep volunteering as much as possible. Trinity started a free after school tutoring center for inner city children at the church called Wonderful Wednesdays. God has blessed the program so much with free transportation, wonderful volunteers, grants, food and other blessings. I have a master’s degree in education with emphasis in special education with much classroom experience, but I feel that the job I am doing at the church, running the Christian Education and the Wonderful Wednesday programs at Trinity are the most important jobs I have ever had outside of my home.
For something that we knew nothing about a year and a half ago, EDS has certainly put our family on its ear. I do believe that we will come out of this year stronger, wiser, healthier and more reliant on God and our friends. None of these things are bad. Sometimes God has to takes us to the depths so that we can reach out to Him in faith. It is a lie that God only give us only as much as we can handle. I believe He often gives us more that we can handle so that we will reach for Him and learn to trust in Him in all things. If we truly had a bad couple of years, my daughter would have died, my mom would have been gone, and I would have died long ago. This was not God’s plan. Sometimes we have to go through the “bad” stuff to see His hands at work. Our family certainly does not take one day for granted. Each laugh, smile and experience is treasured like it should have been treasured all through our lives. We are not guaranteed tomorrow, but we are promised that God will be there with us.
Dr. Tinkle informed us that Erica will be featured in an upcoming medical journal article about instability of C1 and C2. She was the youngest one to ever have this surgery. I wept when I heard that maybe another doctor will see the need to screen for EDS and potentially save a child’s life. My mom will also be in a medical article looking at the dangers of cervical spine instability and how people with EDS should be anesthetized. My joy is like that of a new mom, giving birth, without the labor pains.
I am telling this story to you for a couple of reasons. First, May is Ehlers-Danlos Awareness Month. Its frequency is about 1 in 10,000. It is rare, but not that rare. There are several types of EDS. Some of the types have been found on the gene, but the most common, Hyper-mobility type has not. There is some research, but not much. Dr. Tinkle, the geneticist, is a really great doctor and tries to educate other doctors about the syndrome and how it affects the whole body. But, I have met up with some doctors that are just not interested in learning about it because it is so rare. I even had one neurologist tell me after I suggested that he contact Dr. Tinkle about EDS tell me that he didn’t want his office over run with “you freaks” and did not want to play a part in any “strange research” that the geneticist dreams up. Needless to say that was my last visit with him.
My children’s regular pediatrician is wonderful. He told me a quote that has stuck with me ever since. “You know what is the hardest surface in the world? The forehead of a specialist.” I have found this to be true in a lot of cases. Word needs to get out to these doctors that are writing people off with chronic pain as stress induced, fibromyalgia, chronic fatigue and just plain hypochondriacs. The Beighton Scale only takes a couple of minutes. To be honest, I had stopped talking to doctors because I was sick of hearing that it was all related to stress. I was stressed, because I was in pain!
