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Letzte Änderung: 15.07.2001
Andy aged three months
Andy was born in the end of 1998 in Bavaria / Germany.
At first sight, Andy seemed to be a healthy baby: He was 50 centimeters large, his weight was 3500 grams, and he had brilliant results in the Apgar test which gives a first impression of the newborn's health.
As I left the clinic only some hours after his delivery nobody diagnosed that something was wrong with him.
At home I soon noticed that he couldn't feed properly, and in spite of giving him the milk I had expressed with an electric breast pump by using a bottle with a hole of about 1 to 1.5 millimeters (slowly, of course), he lost more weight than his five older brothers and sisters had as babies. And, of course, Andy had difficulty in swallowing the milk properly this way and had to cough raltively often.
The doctor said that Andy had to be admitted to a children's hospital in case he lost more weight. There they would feed him by a tube from his nose to his stomach after a try with the bottle.
But I did not give up my intention to breastfeed my child whatever problem he micght have.
By that time, the midwife and I had noticed the adducted thumbs and supposed a gen defect (because both thumbs were afflicted).
Andy's pediatrician refused to confirm our supposal (because she did not want to hurt us!). But she wanted to examine Andy in regular intervals. We made sure that we wished a diagnosis.
At the same time we had seen a lactation counsellor, a very good specialist for brestfeeding, and after five really awful weeks of giving Andy bottles of breastmilk and of trying again and again to breatsfeed him we succeeded at last!
So Andy had his first breastfeed at five weeks, and we cutted down one bottle after the other and - what a relief! - could fully breastfeed him at about seven weeks of age! (I can hardly explain how happy we were! We had managed breastfeeding our son after even the midwife had given up (after a couple of weeks of hard efforts!).)
We found that Andy got tired very rapidly during breastfeeding, so he needed frequent small meals! But we really did not mind at all!
The background: Andys mouth region and his tongue were too weak to built up a vacuum at the breast and suck properly. Moreover, his tongue wasn't able to make the correct movements for breastfeeding.
The five weeks of training had taught him what to do and had built up a minimum muscle tone in the regions needed for breastfeeding so that the later were stronger now.
At a later time we learnt from one of our son's physiotherapists that the fact that we had finally managed to breatsfeed him was the best thing to do because children who are fed through the nose may have even more difficulty in learning how to feed properly.
And, in addition, so she said, breastfeeding was a great mouth training for Andy. So, if you can manage to avoid feeding via nose-tube, you'd better do so! (Better a bottle than a tube!) (Of course this micght not be possible in every case!)
Apart from the pediatrician, the first doctor Andy saw was an orthopedist who examined Andy's hands - with actually no new results, i.e. we didn't know more than the fact that Andy's thumbs were bent inwards - but not why!
However, we now knew at least of one thing that it was not the cause: Andy's bones of the head were absolutely all right!
We took Andy to several doctors as nobody really seemed to know what was wrong with him but it took us lots of weeks to find the right doctor for the diagnosis.
When Andy was three months of age he was diagnosed: Enlarged ventricles (caves of the brain), agenesis of the corpus callosum (lacking of the thick band of nerve fibres connecting the two hemispheres of the brain), and a little later the doctor supposed that Andy had the MASA syndrome.
Some months later, the diagnosis 'MASA syndrome' was confirmed by a molecular gene testing.
At that time, we started taking Andy to physiotherapy (Bobath). First we thought that the therapist was only playing with him but soon we realized how the whole thing worked and how the "games" helped.
bit later a different kind of physiotherapy (Vojta) was added for a while but after some months Andy did not accept that therapy any more (use of reflexes for therapy).
As Andy had physiotherapy about twice a week we now had an additional person to ask for tips. (Thanks to Andy's therapist!)
As every child reacts differently you should try to find out which therapy is best for your child. Nowadays it is sometimes possible to combine both kinds of therapies, but there are also therapists who still onyl back one of them.
The doctor who diagnosed our son was a specialist for neurological disorders in a special clinic ( centre for children in Augsburg / Bavaria / Germany.
He helped us realize that our son was disabled and cope with it and we owe him a lot of thanks!
He also gave me first addresses with the help of which I could start the communication with other parents of children with disabilities.
As MASA is such a rare disease I contacted parents of children who showed similar symptoms to Andy's.
From this doctor I received many tips as well. Many thanks to him and all parents!
Of course I developed some ideas on my own as well but the help received from others was most important for Andy's therapy as by doing I could pool all information and find out what's best for Andy.
So at last, I could try a whole lot of exercises for treatment. I tried some at once and discussed others with Andy's doctor. Here is a list of those which helped Andy most:
Lots of rattles and similar toys helped lure Andy into the positions needed (i.e. for sitting up), but together with hard trying they helped. (All "milestones", i.e. sitting up or walking, developed at a later time and not as accurately as with normal children, but they did.) (Think of what your child loves most and take that for luring. Every little effort should be awarded, even if it is "only" a nearly invisible tiny litlle movement of one muscle for a start!)
It has always been unclear whether Andy's intelligence would develop properly. -> So I have simply kept trying to offer him toys, different experiences, the opportunity to discover his own feelings, to train his senses and so on.
The most important rule was to find out what my baby wanted, would want if he knew of and when he needed to rest, i.e. to offer enough, but not too much.
From the time when Andy was three months old to the age of one year Andy had several training hours a day, and I believe this investment of time was a really good one. It helped him a lot! What I found very difficult was to "train" him in a previously good-mooded manner, as it is hard for every parent to accept the deficits of his / her own child. But with the help of other parents being available i.e. on the phone and with allowing me to cry during the nights, I eventually managed it.
And so I am able now to give you another tip for intelligende (and other) training: Make exercises fun! Your child will cooperate much better!
Andy did not only squint but his eyes "scrolled away" as if he wanted to look at something above his head (Andy was three months old).
-> I looked at him from above (from his preferred distance of 50 centimeters) and moved downwards. After many days he was able to look at me in an absolute normal way.
As far as the squinting is concerned I did similar exercises with him, holding different rattles in front of his face, waiting for his eyes to follow. This helped after a while! He is squinting only a little bit now.
The same exercises helped Andy to learn following things with his head.
Andy's shoulders were hypertone (rigid), and he could not put his hands together in order to explore things.
-> I placed him onto a big cushion filled with little polystyrole balls in order to bring his arms into a better position (forwards). So he soon learned to touch one hand with the other or grasp things.
skelettal abnormalities ("weak spine")
-> Our son's physiotherapist told us what exercises to do and we combined them with something that Andy liked. Moreover, we introduced Andy to the "next step" (i.e. if sitting up next, we held him and sat him up for a short moment (once a day), as it was not always possible to wait for Andy (as we were told to o) but sometimes we had to show him what advantages the next step would bring before he tried it (i.e. a better view of the things around him). Of course we didn't overdo it as this would have been bad for his physical development (one step has to come after the other!), but we showed him what his next step could be).
Andy was very nervous and could not sleep properly.
-> I hummed a song, against his fontanelles (vibrations!) and let him sleep in my bed, holding his hand. That helped a bit. (But he still wakes up very often - even today!)
Andy vomitted (and vomits) very often. Small but frequently meals helped to diminish the problem a little (but Andy still vomits rather often (although less often than before)).
difficulties in walking
-> We let Andy walk with the help of toys which he could push. That eased his fear of falling.
(Note that your child has to be in a good posture, when using the training toy, i.e. the height of the toys must fit!)
Feeding problems
-> We saw to it that Andy received food of the texture fitting for babies of about half his age - and that he did not get problems with swallowing and breathing (i.e. that somebody could help at once if he did).
These were the most important training tips for the abilities which healthy children develop up to the age of around one year (or a bit later). Andy of course, developed slowlier. He made his first steps at about 22 months.
When Andy was about half a year old we took him to another, larger medical centre for children in Munich / Bavaria / Germany. There were different specialists working and cooperating in a much better was than this is possible without a centre.
This meant we saw all specialists needed without having to go to different addresses, and first one often doctors functioned our contact person. This helped us a lot.
Now we had two doctors (as contact persons) in two different towns, meanwhile two physiotherapists and lots of other persons to ask if we needed information.
This meant stress but was very important for us as MASA is such a rare disease that you best try to get as much tips as you can get because you normally have to ask persons who have never heard about the MASA syndrome. So you have to adapt their knowledge of other diseases to your own child which can be relatively difficult during the first time. But as you continue learning and start to here more and more things repeatedly. Soon you will see that you are becoming an expert for your child!
So far Andy's first time.
Inform about similar and / or related diseases such as hydrocephalus, spastic paraplegie, other forms of mental retardation as most therapies can be applied to all of those diseases.
Don't give up when you read that the MASA syndrome is progressive (becomes worse).
First: If it is, any help that you offer to your child will curb the deterioration. And do you know at what time improved enough to stop the deterioration or even to ease your child's symptoms?!?
Second: I have read of a possible deterioration as well but Andy's doctors think differently (I hope they're telling the truth!), and up to now my son's condition has steadily been improving! (Let's hope the best for our children!)
Mothers shouldn't feel guilty for having passed the MASA gene to their children! They didn't mean to hurt their children, and no person in the world knows which genes he / she could pass on to his / her offspring! Nobody has the right to think he / she is better than you!
Let me tell you a little story:
After having born my afflicted son, a (female) "friend" said to me:
"I'm lucky having such good genes. My three children are healthy!"
But: My five older children were / are healthy as well! How could she know whether her fourth child (who never will be born) would have been healthy as well?!?
Moreover, mutations (changing genetic programs) are necessary for evolution. How can anybody tell what is good or bad?!?
Try getting in contact with as many parents of children with similar problems as possible. This will prevent you from getting isolated!
So this were our expirience with our son Andy up to now.
What I find important to note is that Andy is a very optimistic little boy who laughes a lot, tries everything (including dancing!) and brings joy into our hearts every day.
Before I had a so-called 'disabled' child I did not know what abilities such children can have insteaad(!), and I asked myself whether a mother has to be sad all the time after havinmg such a special baby...
Now I know! She does not!
I love Andy exactly as much as every other of our children, and I am happy to have him! He taught me so much! My priorities have shifted...and more!
Of course you need to mourn for a while (in the beginning, after the diagnosis, I often wondered why I felt as if somebody had dies - now I know that was my dream of a perfect child that had died (which was good!) - and nothing else!)
But after that phase you'll start to feel better and better...
believe me!
Your child is unique and lovely, and instead of fulfilling the dream of a healthy child yours will make other dreams come true (wait and see)!
If you have further questions on Andy's development, please do not hesitate and write me an e-mail. I'm going to answer it as soon as it is possible with a family as big as ours (seven children).
I wish all families
ALL THE BEST
FOR YOUR FUTURE!
July 2001: Meanwhile we have moved to Nettetal (North Rhine Westfalia).
My fears of having difficulties in finding an adequate physiotherapy for Andy has proved not necessary:
Meanwhile Andy has already been with Sonja for several times (at a health centre) who he accepted as his new "trainer" instantly.
At the moment we are worried about the fact that Andy's legs are looking more and more like an "o" (forming an "o"). On bad days you could kick a soccer ball through them. Moreover his knees are bent outwards which seems to worden as well.
Apart from that my impression now is that Andy starts to understand that he is disabled. For example when he cannot go for a walk with his uncle and his aunt - like his brothers and sisters do - because he suddenly vomits again then he really looks very down. But even apart from that my impression is that he is understanding more and more that he is different.
I hope to be able to help him make it!
What is good is that Andy seems to feel fine in his new home. This can be seen on "fit" days when he is still the same friendly, funny and nice boy that he was before we moved.
I'd love to report more but I fear ther is still a whole lot to do - and looking for a new speech therapist and a new orthopedist is only part of it...