The story of Nanette

Nanette is a 27 year old positive girl. As a young girl, Nanette has always been a bit of a loser. She had X-legs, a lot of “growing pains”. It was only during her education at the University that it became clear why so much went wrong with her. The growing pains turned out to be (sub) luxations of the joints and the X-legs were caused by a wrong hip position. For years we have seen many doctors. It was the rehabilitation doctor who expressed her doubts and decided to send Nanette to the rheumatologist with a suspected diagnosis. After another referral to clinical genetics, the diagnosis was really established. It was clear: Nanette has Ehlers Dahnlos Syndrome (EDS).

From bad to worse

University quickly became too much for her and the transition to a community college was inevitable. She graduated after only 2 years. Unfortunately things went downhill after. In the summer of 2019, after an enormous cramp in her neck muscles, a cervical vertebra had shifted. This shift caused gastric valve paralysis which made eating and drinking impossible and eventually inflamed her stomach and esophagus. Nanette was admitted to the emergency room because of dehydration. Not only did she end up in the emergency room, she then also ended up in hospital because of a one-sided paralysis on the right after a second (sub) luxation in her neck. In the meantime, more and more ailments / symptoms have been added. Think of fatigue, repeating migraines, extremely low temperature, blurred vision, dizziness, bladder and bowel problems, brain fog, complete collapse after exertion, and not being able to do anything such as talking or moving.

On to Barcelona

Over the years we as a family have read a lot of medical studies and documentation and through the efforts of Annemieke de Wit of the Amy’s Battle Foundation, among others, we came to think that the health problems could be related to her neck. Unfortunately, Dutch doctors did not recognize the symptoms and the related syndromes, and refused to guide us towards potential treatment abroad. We took the plunge and contacted Dr. Gilete in Barcelona, ​​a neurosurgeon with great expertise in high cervical problems in combination with EDS. We travelled to Barcelona at our own expense at the end of november 2020. All kinds of examinations were done for a day and the results followed two days later. As we suspected, Nanette has Craniocervical Instability, abbreviated CCI . Unfortunately it didn’t stop here. She also has Atlanto-axial instability, abbreviated AAI. Furthermore,  vertebra C3,4 and 5 are unstable and her cervical C6, C7 vertebrae show protrusions. Finally, she probably suffers from Tethered cord (a condition in which the spinal cord is attached to the structures at the bottom of the vertebra). There is also scoliosis and mastocytosis, MCas for short, as well as abnormal blood vessels and nerves in her head and neck region.

Altogether, she suffers from a very complex combination of syndromes, but there is hope!

Action plan

The diagnosis is clear and surgery is the only thing that can help Nanette prevent further posterior brain prolapse and brainstem compression. A complete fusion of her neck is the solution. Unfortunately, this operation is not recognized in the Netherlands for EDS patients and is therefore not reimbursed. Nanette will undergo a full neck fusion, unfortunately both at the back and at the front because of the scoliosis. The tethered cord must be found and surgically detached. All together, a long, heavy and very disabling operation. Nanette will lose any movement of her neck. She has 2 years of rehabilitation ahead of her, but she believes in it 100%.  This is the reason that I have set up this foundation together with two good friends of Nanette, Sophie and Lisanne, to collect donations in order to continue the life-saving operation. Nanette is in for the full 100% and so are we! We fully support her difficult decision and will do everything we can to make this possible.

Are you willing to help?

On behalf of Nanette, thank you very much for your support.

Hans and Hester, the proud parents of this tough chick.