We found out about Martim having MDS when he was two. It was really difficult to have a diagnosis. The word adventure is a good description for my feelings about it!

When he was about 15 months, we were first alerted by his teacher in the kindergarten. She told me that he seemed a little bit to quiet and that maybe it would be better to take him to some early intervention programme. And so we did.

At the same time, we were receiving several small signs, talking to education technicians, therapists and also a doctor in the hospital urgency that referred a possible genetic problem. They were very cautious when talking to us, but I had a doubt growing in my spirit. I just had to know if everything was alright or not. I talked with Martim’s pediatrician and explained the situation but she insisted that everything was ok, while looking discretely but actively for trissomy 21 signs without success (I could tell by the way she was observing his hands, looking for a simian crease). Martim doesn't look to have MDS; he doesn't have evident face traces. I think the pediatrician just thought I was a very anxious mother. Normally I'm not, so something was just not right.

So, I talked to another pediatrician. This one was also sceptic about this. She asked me: "would it change anything to find out? At the most it is a mosaic". As Martim doesn’t look different from any other child I understood this comment, but really insisted in having Martim tested. And, fortunately, she agreed after a while. How can we minimize or solve a problem if we don't know what we are dealing with? And so we made a blood test, had the cariotype observed and found out about MDS. We then started a screening period concerning his health (vision, respiratory problems, heart defects, development...) with pediatricians that are involved with trissomy 21. Happily, he has only a problem with his vision that is not connected with trissomy 21 and now he wears glasses. At the same time, the early intervention programme was redirected and intensified. For years, he was on speech therapy and learning to read in a centre dedicated to T21. Now, with the age of 6, Martim is in the first year of school and, after a difficult adaptation period, things seem to go in a good direction. He has developed good social relations with his teacher and with his colleagues and is actually learning. He’s also involved in several activities outside school (horse riding, scouts…).

At first, before knowing what was wrong, I was very concerned and quite angry with the pediatricians. After knowing, quite sad during some days and very worried about my son's future. After a while, I just react and began to reach people that could help him and give me some orientations: technicians, therapists, doctors, involved with T21. After all this, Martim soon began to have a kind of a net of people around him that helped him and also us, the parents. This helped a lot. It just took too much time to get there. Would it be a faster process if people were more aware of MDS? I strongly believe that yes.

Being aware of the problem and how to minimize it really eased my mind. It’s in our human nature: we fear the unknown. From my point of view, the best thing we can do for these special children is know as much as possible about MDS and not being afraid of what we might find. Some things are very hard to listen but knowledge is the best way to help children with MDS. We still have a lot to learn about MDS. And like anything else in science, the more we know, the more we still have to discover.

I found IMDSA in an internet random search because I wanted to know more about MDS. It was really a relief to find out that somewhere in the world there was a place where I could found information and people to contact. It didn’t matter that we had an ocean in the middle. I could review our story on the story of other families with an MDS child. This made me understand what could be my son’s evolution and the fear I had in the beginning of the process about his future just fade. He has to overcome difficulties everyday but he is an incredible child, with a strong personality and definite skills. Contacting with IMDSA stories made me realise that above all, these children are gifted individuals and, like any other person, can develop amazing skills and have a great life!

Teresa Paço
Mother to Martim, researcher
Lisbon, Portugal