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 Association Française d’Aide et de Soutien aux Malades de Gorham |
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The case of Hansel |
Hansel was born on December 28th, 1988, in Langres in France, from a family of four, which he is the youngest. He suffers from Gorham’s disease, that seems to have flared up during summer 2004. Hansel at the age of 9 -> Cronology:
Fracture of the left leg with surgery, biopsy on the tibia bone. Hospitalization at the Nancy Hospital. This fracture revealed an osseous anomaly of cystic type. The biopsy tests remained without being able to determine the disease name. Only the angiomatous remains caracterized.
Hospitalization for complete checkup, MRI and scanner, discovery of multiple lesions on the ribs.
Surgery for a biopsy of an affected rib. MRI and scanner.
Medical report: signals the MRI of August 1997 the presence of an osseous aneurismal cyst in the tibia. The biopsy realized in August 1997 discards a malignant process but it is not conclusive for the anatomopathologic diagnostic. The skeleton X-Rays in its entire form reveals multiple lesions in the skull; of lacular type and bifrontal, humeral lesions to the right, radial proximal of lacular type to the left, bilateral cubitals of spongeous type. The MRI of May 25th 1998 shows that the skull is affected (due to the right optic nerve connection). C5 is completely crushed and there is a lateral compression of the T1 on the left. The sacrum and the hip wings seems to be the siege of important lesions. The ecography of June 1998 shows multiple cystic formations of approximately 5mm each on the spleen.
Fracture of the left arm due to falling. Surgery required, metal brackets inserted into left arm. Wear of protective corset now required. No treatment is proposed for still an unknown disease.
Medical consultation and report: Hansel weights 26kg (57lbs) and is 135cm (4’4”) tall. Pains in the back, tibia and spinal cord. Pains in the ribs still present, especially at the 7th right rib. No treatment is prescribed.
A second opinion is requested from the Necker Hospital in Paris, no additional information has been provided.
Fracture of the ribs, still no treatment prescribed.
Consultation at the Nancy Hospital, we’re talking about osseous angiomatous lesions. Hansel weights 25kg (55lbs) and is 136cm (4’4”) tall. MRI and controls.
Consultation with an ophtalmologist after lesions to the skull. Everything seems fine.
Hospitalization in the emergency room for pains in the ribs (fractured). No treatment is put into place.
We are now talking about a cystic osseous lymphangiomatosis.
Information request with a surgeon who, not being familiar with the disease, decided not to get involved in such a process.
Hansel is very asthenic. Doctors are talking about fatigue linked to a depressing component, side-effect of the contraints from his handicap and his worries about his future. Abdominal and left foot pains. An echography shows several cysts related to the disease. No treatment prescribed.
Admitted to the Edouard Herriot Hospital, in Lyon, in the rhumatology department. Complete medical report. Scientifigraphy, splenic echography. Pamidronate injections intra venous (Aredia) of 20mg within 4 hours, repeated over 3 days. Report states that at the lumbar level, lesions are detectable in L4 and L5, nests at the ribs level. As to what concerns the spleen that is affected, on the abdominal echography, we find 15 to 20 cysts measuring 5 to 10mm diameter and one of them measures between 15 and 20mm. The Aredia’s purpose is an anti- osteoclastic effect because it seems, just like in fibrous dyslapsy of the bones, that there are intervention from the osteoclasts at the angiomatous tissue and of the bone tissue interface. A treatment based on vitamin D and calcium is prescribed. The doctor talks about a rare osseous disease invalidating and potentially evolutionary (idiopathic osteolysis through pleural effusion osseous angiomatous in the context of Gorham’s disease).
Aredia injection #2.
Aredia injection #3.
Aredia injection #4. Stable cervical control. No neurological signs found.
Aredia injection #5.
Aredia injection #6.
Aredia injection #7.
Aredia injection #8.
Aredia injection #9.
Echography due to spleen pains. Cysts are stable.
Aredia injection #10.
Aredia injection #11.
Multiple epilepsy attacks. Cerebral MRI. Multiple lymphangiomatosis found in the skull. MRI revealed normal results.
Aredia injection #12.
Consultation with a neurologist in Nancy, due to multiple epilepsy attacks which happen through visual troubles. The doctor evokes partial epilepsy attacks to the left associative cortex. These attacks may eventually be related to an hyper or hypo calcemy. An electro encephalogram has been done, not revealing any anomalies. Three anti epileptic drugs were prescribed as well as an anxiolitic.
Aredia injection #13.
Hansel fell while out with friends. Admitted to Emergency Room, Hansel only got a few bruises.
Aredia shot #14.
15th Aredia injection, spread over 2 days. Considering Hansel’s growth, who now weights 56kg (123lbs) and is 1m75 (5’7“) tall, the medical team suggests Aredia injections every 6 months spread over 2 days only. Calcium pills with Vitamin D are also prescribed.
Aredia injection #16
Aredia injection #17. MRI and scanner. The whole of exams show that the disease is active again, affecting the 4th cervical and demonstrating that the lesion on the leg has progressed. Doctors are not taking a decision in regards to this evolution. Another Aredia injection is expected at the start of December, due to the family’s request.
Aredia injection #18. Simple X-ray of the cervical column, dorsals and lumbars. X-ray shows new lesions on the dorsals and on a lumbar. Hansel weights 53kg (117 lbs) and is 1m77 (5’8”) tall. Next Aredia injection expected in March. In paralel to the current treatment in Lyon, a valuable contact has been established with the Children’s Hospital Boston where a research unit is currently working on Gorham's disease. The medical record was sent to Boston. The possibility for Hansel to have analysis performed is being studied, hoping that more advanced therapies for Hansel could be feasible.
Pain in the left temple. The scanner shows new lesions in the bone at the temple level. The results are being analised.The Boston Children's Hospital medical team is analysing Hansel's medical record and should provide its conclusions very shortly. Unfortunately, Hansel's disease is progressing very quickly and we started to collect funds in case Hansel could be treated in the USA as it seems to be the only alternative for Hansel to receive adequate treatment for now.
Aredia injection #11. Next injection planned for June (over a 3 day period). Injections can be done now from Nancy.
Good news: we will meet the medical team of the Boston Children’s Hospital
on 8 July 2005!
Trip to the Boston Children’s Hospital in the U.S.A.; Hansel and his mother met with the medical team who explained them the latest research performed on Gorham’s Disease, and the treatments currently in place.
Hansel is still hoping to receive his new treatment. It seems very complicated to obtain an authorisation from the French health department concerning the doses recommended by the medical team in the USA (they exceed what is currently allowed in France). We have performed the procedure asking for a special treatment, and are waiting for a response. Similarly, taking into account the difficulties we are encountering in France, we are studying the feasibility of Hansel going to the USA to receive a treatment as soon as possible, due to the fact that he has been without treatment for four months. We suggest you read our section “Inside the association”. Your suggestions are welcome!
Finally, Hansel will receive his treatment from Spain! This comes as a surprise, but it is with great relief that we start seeing light towards the end of the tunnel. In the end the solution comes from Madrid thanks to Dr. Lopez (Hospital La Paz), who knows well the disease and the Boston team and accepts to help us right away, as in France we were hitting walls all around us, with nowhere to go. We are currently undergoing all necessary steps for Hansel, taking advantage of the fact that his older sister lives in Spain, to receive adequate treatment. We will get back to you with more information asap.
Hansel starts the treatment proposed by the American team. Everything goes well and he enjoys a happy Christmas together with his family in Nancy!
Hansel's birthday. Unluckily, he fractures a small bone on the left foot, from which he recovers rapidly.
Hansel starts the lectures at the Lycée Français in Spain; he is happy and reacts well to the treatment. We are very satisfied of the team that follows his case in Spain. We have all the support of Dr Lopez from Madrid and his colleague Dr. Baselga from the San Pablo hospital in Barcelona for the day-to-day coordination. The next exams and controls will be in March.
Deletion of an anti epileptic drug, less epilepsy attacks. An electro encephalogram has been done, not revealing any anomalies. Implementation of physical therapy sessions at home.
Hansel goes through a complete series of tests (MRI and x-rays) and the results commented by Dr Lopez on 16 May are very encouraging: the lesions seem to remain stable, whereas the lesions on the humerus, T1 and C5 could have improved slightly.
The exams will be studied in-depth and discussed between the doctors in June.
Consultation with an ortopedist, who is actually very positive when analysing the cervical column’s exams. He talks about the possibility to remove the protective corset that Hansel had been wearing for 9 years.
Very positive neurological report : Hansel takes now 2 anti epileptic drugs (deletion of the anxiolytic drug).
Hansel celebrates his 18th bithday.
Hansel removes his corset !!!
End of the scholar year. Hansel is doing great. Several exams done in June and next trip to Madrid planned for July.
Good news for Hansel during our meeting with Dr Lopez on 23rd of July : there is more bone density on the skull. The rest keeps very stable. Hansel will follow with the same treatment and should have another control within 6 months. |
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