We have been through a lot, for example 5 months of casting on the right arm, 2 lung operations, 6-7 weeks in the hospital etc. and we have made a sort of conclusion even though we are not finished yet, we believe that what has already been done, and what we think will happen later on, will improve his chances of survival, and hopefully, give him a chance to even beat this disease.
What and where does our son have Lymphangiomatosis?
He is having this disease in his right hand, arm and shoulder, in the top 3-4 ribs in his right side, both lungs, and finally also in a part of his spine. The surrounding tissue in these areas is also affected be this disease. His right arm is much bigger than the left, because of the pressure in the lymphatic system.
The first years
First of all, this disease is very hard to actually diagnose because it's so rare, and in our case, it's was first diagnosed when our son's right lung collapsed. Therefore we think that many people who has this disease first was misdiagnosed and only got the right one when this actually is a life threat. Marcus was born in September 1996, a big and healthy boy with a perfect Apgar Score. Counting fingers and toes we immediately noticed his right hand being slightly bigger than the left, but as no one in the staff took notice of this we quickly ignored it. After a week he developed what we then called a "strawberry mark" around his right elbow
At first he was diagnosed with a syndrome called "Klippel-Trenaunay", but because of the bone involvement the doctors changed it to "Mafucci´s Syndrome". This took place from our son's birth until his 5 years birthday were he eventually broke his upper right arm.
We were lucky that his arm grew together without any problems, but we were off course nervous, while this was the first sign of a more aggressive disease than we thought. After this we were sent to a centre here in Denmark where rare diseases are being treated and analysed, and they were thinking about changing the diagnose to "Gorham's Vanishing Bone Disease" or another name for this "Lymphangiomatosis".
A half year later he broke his arm again, this time it was the lower right arm, and now the problem first started, as if we had not been through enough. The arm would not heal and after 3-4 months with different castings, it was decided to operate a small nail into the area. The operation was a success and after 1,5 months the arm was all right again. At this time we were still not sure about the diagnose, but we were sent home from hospital, and looked forward to trying again to make some muscle training in our son's arm, which after 1 year was in casting for more than 5 months, so of course the arm was very weak and he actually could not lift the right arm without using his left arm as a sort of crane.
After approx. 3 weeks at home our son started so be short of breath, and we thought that we could see his chest was getting bigger, but that couldn't be real so we were quite sure that we were just a bit hysterical. But he continued to be short of breath, and we therefore went to the hospital to get an X-ray.
We were immediately sent to this leading hospital in Copenhagen called "Rigshospitalet" and they could see that his right lung was collapsed, and his heart was actually pushed to the left side of his chest. We were of course submitted to the hospital, and after 3 days it was decided to operate a drain into his right lung, also called "drain treatment".
The Drain Treatment
The drain treatment is an operation where a drain with a diameter of about 6-10 millimetres is operated into the area around the lung, it's pushed through a small hole which is made between the ribs, and somewhere around 50 centimetres of the drain is pushed into the area around the lung.
There are probably a lot of small holes in this, so that all the fluid can run out without any problems. When this was done on our son's right lung there was a total of 2,5 litres running out on the first day!!!! The drain can be very painful, but also almost painless, it's very difficult to say, it depends on where the drain is located, and how sensitive the tissue is.
Normally a drain is only left inside for max. 2-3 days because of risk of getting an infection. In our case we went through a 2 weeks treatment with only 2 drains used. The drain was cleaned around the hole every day so Marcus avoided infections.In this period the product called "sandostatin" was tested to see if it could stop the continuing lymph-fluid coming out but it failed. The fluid was about 1-1,7 litres/day and this is called "a massive chylothorax". Now it was decided to operate the lung.
The Lung operation
This operation is of course the worst thing that you can imagine, your child having done, but actually this operation is not as painful as the drain can be.
The operation is done by cutting a thin line between the ribs in the back about 10-15 centimetres, where the ribs then are being pushed aside so that a hand actually can go in.
This of course gives a great deal of pain in the back afterwards because the ribs are spread for a long time. Approx. 2-3 hours depending on how difficult the operation will be. In our son's operation they opened him an then closed some minor "holes" in his tissue surrounding the lung, but also the thoracic duct was closed with what we think is some "clamps" made out of plastic.
This is called "ligation of the thoracic duct" This was done because some literature is showing that some people are actually cured spontaneously just by closing this. After this operation was finished we were very excited if the fluid would stop, but it was only reduced with about 50 %, so we were then very depressed.
After only 2-3 days it was decided to operate again. The doctors opened him at the exact same place as the first time, and they would try to do an operation where you use some material similar to talcum, and simply powder the outside of the complete lung and the area around it, so that it will "glue" together. This surgery is called "pleurodesis". This was a big success!!! The fluid stopped already after 2 days and we were very happy.
At day 3 a new X-ray was taken just to see if everything was all right, but a new nightmare started. The fluid was now entering the left lung!!
We were immediately sent to operation where a drain now was "installed" in the left lung. Again the fluid was around 1-1,5 litres/day, and therefore a new talcum or "pleurodesis" was conducted, again it was a success.