A happy story: X-ald son, loes score too high, but successful BMT

Dear friends,
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.

Maria Manuel

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Dear Maria,


I am very happy to see your message. My son who who was suffering from X-Linked ALD has lost his life in April 19, 2010 after struggling long six years. You and you son is lucky enough that he got a new life. I always prayed to the almighty that after my son no one should suffer. I wish him a long and happy life.
GOOD LUCK.

Ashok Khound
Guwahati, Assam,
India
781028

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Dear Ashok,

I am very touched by your message. How kind and generous of you to write to me. I gave a long moment of silence and thoughts for you and your family. I am so so sorry that help wouldn't come soon enough for your boy.
We live one day at the time and are aware of the precious opportunity that is given to Lucas and us.

Wish you all the strengh to live as best as possible.

Maria Manuel

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Hi Sonia,

thank you for giving all the details on Nicholas condition.
In the first 6 month after transplant, Lucas had also great difficulties in sleeping. Then it got better, but doesn't fall asleep like a healthy child (for example, when we do a long car trip or in bed at night it takes some time). In his case he never had allucinations. Maybe it has to do with the brain areas that are affected.
Can you tell me which parts of Nicholas brain are affected? In Lucas case it the occipital and parietal area ((more in the back of the brain), which give him difficulties in understanding complex things or in 3D graphics - for example it his difficult for him to copy certain drawings or to make a legohouse. As is frontal part was spared the neurologist has expectations that his agressive behaviour, impulsiveness and resistance may decrease. He has the opinion that a lot of it has to do with the stay in the hospital and all these neverending appointments and examinations. The neurologist wants to give him Ritalin/Concerta and we will try it - because even with all the calmness and dialog most of the time we cannot convince him to change or calm down.

It is very hard to see our sons so different the way they were. There are moments were the all the happiness of having him has some dark clouds because of the consequences he and we - as parents - are suffering. But we try hard to "forget" how Lucas was, because it will hinder us to overcome the feeling of having lost him. The only thing that matters now - and again it's a daily inner struggle to focus - is the son we have now, that is alive, playing and smiling and learning step by step in his very own personal rythm.

Looking forward to hear again from you.
Maria

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Hi Maria
Thank you for uour kind words
It is hard to get up everyday not knowing how the curse of the day will bring
You are right our boys deserve the best of us
I read all the stories of beatiful active, loving, caring boys
And identify with everybody!
We had yesterday our follow ip app with transplant docs
They said Chrisito is engrafted fron their point of view
He can do anything his brother does
Meaning no more restriccions, no more isolation, he can go to school
But i am soooo afraid to let him go....
Our native language is spanish...

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Hi Maria
How is Doing Lucas today!
Hope everything is ok
Sorry havent posted anything earlier
I am having difficult times
But the reason today is to ask your experience about school
The
PT, OT are pushing us to send chrisito to a regular school,but he has from time to time this episodes. That are scary,i am very concern about this.....

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If your sons are having trouble getting to sleep and are on hydrocortisol for adrenal insufficiency, it may cause insomnia I just read. I am going to talk to my endo about it soon because my son takes it about 9:00 and he can't get to sleep until about 1:00. I thought it was "hospital" time he was on, but now I wonder?

Seeing dead people is interesting...my son became interested in horror film characters recently since in hospital for BMT: Chucky, Jason, Michael, Freddy. Whereas before he was deathly afraid of shows like Goosebumps. I tried to figure out from his MRI the parts of his brain that were affected by the demyelinazation and see if they were the cause. It is a difficult task. I haven't seen a great sight that pinpoints specific brain functions that closely.

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My brother and uncle also had insomnia. I don't think it's the hydrocortisone. They were not taking that. Nicholas started having hallucinations after his 1st seizure about these dead twins that would appear to him and ask him to help him. We were fearful, so the psych. put him on quetiapine. This helped in terms of the halluc. as well as the sleeping. It almost acts as a sleeping pill. Makes him very drowsy. Before this pill, no one was sleeping. He would fall asleep around 1 -2 or sometimes wake up in the middle of the night and start playing with his toys. I wasn't sleeping because of him. This was a great help that med.

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Experience of Lucas in school.

Dear Su, the experience of Lucas in school was and is very positive. It helped him to get a rotine back, to be with his peers, although he sometimes experienced frustation because of being "different" and having more difficulties in doing things. You should really try it.
what kind of episodes does your son have? HOw is he doing. You can write also in spanish. I can read and write.

all the best

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Gracias Maria
Chrisito aun no tiene todas las vacunas talves la escuela no lo reciba
Hemos visto que cuando tiene a los vecinos de visita le gusta por eso la escribi para pedirle su opinion
El no puede mover ninguna desus extremidades tampocohabla
Se acuerda todo incluso las tablas de multiplicar pero no sabemos porque nopuede hablar
Ponemos algo en la boca y le molesta parece lalengua o algo
No entiendo nada

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Hi Su,

Here in Portugal public schools have an inclusion strategy for children with disabilities. Here you son would go back to a "normal" school having special care and some hours per week with a special teacher who helps with individualized learning strategies. Lucas went to school after summer vacation without the vaccines. You know every other healthy child had them. He started the vaccine program now.
The neurological disorders after bmt (because bmt makes the disease move "fast-forward"), as far as I know can provoke a lot of different symptons - physical, psychological, cognitive and emotional. So I think Chrisito is affected by various problems. It would be good that a neurologist could go on seeing him to experiment physical therapies, speech terapies and so on.

Hope to have helped you a little.

All the best.

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Hi Su,

Here in Portugal public schools have an inclusion strategy for children with disabilities. Here you son would go back to a "normal" school having special care and some hours per week with a special teacher who helps with individualized learning strategies. Lucas went to school after summer vacation without the vaccines. You know every other healthy child had them. He started the vaccine program now.
The neurological disorders after bmt (because bmt makes the disease move "fast-forward"), as far as I know can provoke a lot of different symptons - physical, psychological, cognitive and emotional. So I think Chrisito is affected by various problems. It would be good that a neurologist could go on seeing him to experiment physical therapies, speech terapies and so on.

Hope to have helped you a little.

All the best.

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Dear Sonia
Haven't seen your replied until now
Thank you thank you
I know youmust be very busy, i appreciate your time
Chrisito is in a regular class , great kids
But i was there for Bout 8 days just to show the personwho will be taking careof him how to understand his needs
And feel really sad that he wans't included
I have told them i think they made a little changes,but not sure how is he doing after almost 3 months
My husband thinks it will be better to move back to my country bolivia
Not sure,but i have my parents working and sendingus money and we cannot do that anymore,so that is the situation
In my country there isn't any kind of help for children with disabilities,they said they are thwrapies,but we leace i a remote town that what we are doing now isjust to learn as much as we can
My biggest fear is, flying, i am not sure abozut the damage of the brain,the Ir pressure,the transfers,et c how it would affect him
I am scared!!!!
Who do i ask!!! Had appointment with his neurologist, but. Chrisito was with us the whole timeso couldn't ask......
What do i ado????

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