I want to send out a message of hope for all the parents which struggle with the huge drama of having or not their son still eligible for bmt transplant (it is the onle known way of trying to stop x-ald).
I'm writing from Lisbon, in Portugal.
Lucas is the great hero of this story and although it is not finished yet, every episode of it has happy ends. We are so fortunate.
In december 2011, Lucas, seven by then, was diagnosed with X-ALD, through a MRI. The symptons were the ones often described in this forum (some hearing loss, lack of concentration and some abscence, bad hand writing, some eye crossing).
First we were looking for Asperger syndrome, but thanks to a otorhinolaryngologist, who found that there were some particularities in his hearing problems, he suggested the aforementioned MRI. It indicated a too high loes score to be eligible for bone marrow transplant (12-13), but Lucas was still doing very well, everything looking pretty normal, though.
Since the experience with this disease in Portugal is almost none, his neurologist Dr. José Pedro Vieira asked the opinion of two world specialists, Dr. Auburg in Paris and Dr. Orchard from the Minneapolis hospital to decide whether or not to make the BMT. Through a good friend of ours living in the US, we also asked Dr. Raymond from the Krieger Institute.
Only Dr. Orchard suggested to still try bmt if we find a very good donor match. Dr Auburg was very reluctant and said that only if there were a perfect familiar donor match, but even so he would not recommend it and Dr. Raymond didn't recommend it at all because the bmt would provoke an accelaration in the disease wich would be fatal. Remark that they were told that Lucas's clinical situation was still good, he was still haviga a normal life, in both psychical and mental perspective.
With these opinions, Dr. José Pedro Vieira decided to risk it, because there we no other alternative. We were with him. We lack the right words to express our gratitude, his boldness and heart saved Lucas. The transplant team in Portugal had also to take a bid decision, because it would be the first bmt for this disease in Portugal. Dr. Manuel Abecassis and Dra. Isabelina Ferreira were also courageous and innovative in the accepting to perform this first transplant case. They got good advise from Dr. Orchard. This was a happy encounter with excellent, dedicated, audacious, and warm Portuguese professionals. We shall never forget.
At the end of January they found two umbilical blood cords with a perfect match, so the Hematopoietic stem cell transplantation (HSCT) was performed on 18th February.
In the coming two months, Lucas lost a lot of sigh and vision. He had also some space orientation problems and speech problems. His fields of vision very also very reduced.
In May it seemed even that he would loose the donor cells, because the levels very low, but it started to rise, to rise and now the chimerism is like these (here they look at a three level cell performance: 92%, 64% and 19% are from the donor - in what is called a mixed chimerism).
The first post-transplant MRI was done in April and should a regression of inflamation, meaning that the disease was less or almost not active.
During the next months we saw some recovering. He was seeing, hearing a little better and having better spacial orientation.
In September Lucas went back to school.
The doctors suggested that due to the neurological origin of the disease, the interactive, affectionate and learning environment would do him good (which it did), in spite of the risk of getting infections and other illnesses (which he got). With the public education department we achieved that Lucas has every day 1h30 with a special educations teacher, 1 hour per week speech therapy and psychomotor therapy. We had meetings with the school’s principal, with all of teachers and we are permanently in touch with Carla Soares, the special education teacher and Rosa Marques, his homeroom teacher.
Another happy encounter was with the psychologist Isabel Amaral, who we meet through ISPA, who is a retired specialist in communication with children with multiple disabilities. On a voluntary basis she helps the school and us to understand and deal with Lucas’s special needs.
In November Lucas did another MRI which showed no activity for the disease. We were so so happy. We know it is a rare case in this horrible disease.
One week ago Lucas took another MRI 15 months post-transplant and AGAIN, the disease is stopped. No inflamation, no activity. The affected area is there, of course. Children produce myelin until 12 years old and no one can say ir the brain may restore some that was lost in that area. So it is not unreasonable to hope that some nerve connections might be restored.
In any case, the brain is a very plastic organ that finds new ways to do the same thing, so in a child's brain the chances of overcoming some difficulties are of course higher.
We don't know the future. We don't know how Lucas will do, the chimerism, his evolution, what problem he may encounter. For example we don't know his risk of developing AMN and how that would be. But one thing we know we did not and we do not loose our hope.
This is our message: how many parents heard a NO from the doctors? Medicine is not an exact science, on the contrary and these specialists saw a lot, experienced a lot, have to deal with hard decisions, BUT it takes one case like Lucas to say YES.
We would like to know other situations close to Lucas's, how was the evolution, what problems showed up etc, because we don't know any parents with a similar case.
We wish you all the the luck and happiness.
Everything that we can help - any doubts, more information, please feel free.