Sami, Nick and Lori have Ehlers-Danlos Syndrome, Chiari Brain Malformation, Dysautonomia, Tethered Spinal Cord Syndrome and Postural Orthostatic Tachycardia. These have led to spinal instability, cranial settling, damage to the spinal cord, brain, blood vessels and organs. Click "Read My Story" link for more information.
Isaiah 40:28-31 "They shall run and not be weary, They shall walk and not faint."
"I know whom I have believed and am persuaded that He is able to keep that which I have committed to Him until that day." 2 Tim. 1:12Due to weakness from Ehlers-Danlos tissues, Nick, Sami, and Lori's skulls settled on their brains and forced part of their brains out of the skulls and into the spinal canal causing Chiari Malformation. This damaged the cerebellum, brain stem and spinal cord- the control centers for the organs and so much more.
After many small "soft signs" in Nick's early years, a dizzy spell in the 1st grade was the first sign that something was wrong. One spell quickly turned into hundreds of spells a day. Soon severe, unrelenting dizziness, nausea, severely low blood pressure, tachycardia, temperature regulation problems, noise sensitivity and balance problems left Nick bedridden for years.
Shortly thereafter Sami began with severe headaches. Soon to follow for her were uncontrollably low blood pressure, tachycardia, hyperinsulinism, inability to eat without passing out or coming very close to it, light sensitivity, and nerve pain (neuropathy). Sami ended up also becoming home-bound and in bed.
A Head Up Tilt HUT was performed on each child and it was found that their bodies could not control heart rate or blood pressure when they were up-right and soon other organ system dysfunctions were found. No one knew why this was happening.
The years ahead included traveling the U.S. to any physician who would try to help find a cause for this dysfunction of the organ systems. Nick counted 39 physicians that we went to before someone had the answer.
Nick was symptomatic for 7 years before he received a diagnosis of Ehlers-Danlos with cranial settling affecting the brain. Sami and Nick had craniocervical fusions in May of '06 to reposition their skulls and odontoid bones and "lock" them into place with rods and screws. They later had tethered cord surgeries to release their spinal cords that were being held down by abnormal connective tissues. To date they have had a total of 13 surgeries between them and several for mom.
Nick's debilitating dizziness is completely gone since the surgery. Thank you, God! He also has improved temperature regulation and less sensitivity to sounds although these have not disappeared. However, he still has cerebral perfusion problems with only 40% blood flow and oxygen reaching his brain when he is in an upright position. He uses daily oxygen. Due to this lack of oxygen in his brain he can only be out of bed for about 4 hours a day. Nick also has multiple organ systems that will require life long support. He still cannot maintain blood pressure nor heart rate while upright. Along with being on many medications, he receives nutritional support by port infusions and he still requires weekly physical therapy due to weakness.
While Sami's headaches have improved and she can eat with far fewer autonomic spells, she continues to have daily headaches if she pushes herself too hard, which she does. She also has permanent dysfunction of multiple organ systems due to the weakness of Ehlers-Danlos tissues. She will require life long medical support. She still goes to physical therapy twice a week to work on the muscles of her neck and back.
Time is so important. Diagnosis needs to be made quickly and surgeries need to be done to prevent permanent damage. Our journey did not allow this. It is our hope that others will have total healing from quick diagnosis.I pray that I will never forget the gifts that God has given Sami and Nick. Both are tremendously bright intellectually. Both have the most wonderful personalities and love for God, each other, family and others. I pray on our tough days we never forget the improvements these surgeries have brought. Dr. Bolognese had said that he could bring them up 2 levels on the Karnofsky Disability Scale - physical disability (Nick from a 40 to a 60 and Sami from a 60 to an 80) and that is where they are. I had truly believed that they could return to 100% but Dr. Bolognese and time have told us that this will not happen. We now look at every day and say, "What CAN I do today?"Nick's site he created to help others receive a diagnosis: www.medicalzebras.com (http://www.medicalzebras.com/
)Marissa's story is below:http://www.chiariinstitute.com/testimonials/MIrwin.pdf