Arno’s story (born 2008)
Arno, our first child, was born on the 14th of December 2008. Pregnancy was normal, except for a below normal size at 6 months pregnancy, but growing constantly. He came at full term but with a little weight (2,8kg) and by caesarean delivery.
The day after his birth, two doctors and a geneticist came into our hospital room and told us that something was « wrong » with our baby referring to many little signs like hair on the forehead, cryptorchidism (undescended testicles) – operated Dec. 2010 together with an umbilical Hernia –, long hands and feet, and many other signs that we couldn’t see…
At that moment it was a shock for us, fearing for his life, and Arno was immediately exposed to many tests (blood, heart, lungs,…). Fortunately everything was right so far, and we were sent back home with several other tests to do in the following months. The karyotype test was made again (already made by amniocentesis) and came back several month after again without anomaly.
The first year, Arno evolved quite normally, starting lallation, sleeping through the night at 3 month, sitting at 6, and walking by holding furniture at 9 months. He walked really alone at 15 months but has up to nowadays a “swaying walking”.
Arno was always a very peaceful and smiling baby as he is now as a child. He loves music-videos, water, jumping, climbing and globally outdoor activities.
We always felt that it was a chance that the doctors have noticed Arno’s difference so early because we were so scared to lose him that nothing could be really bad after that J …
Except his first epilepsy seizures at age one, when again we thought he would pass away (not knowing what it was)…
Since that first seizure episode, Arno has tried, from time to time, 6 different medicines in different combinations (now 3), but continues to have several seizure episodes a year. He rarely has only one seizure. Generally they cluster and become worse so we have to go to the children hospital to make them stop under medical control.
Since the epilepsy began, we noticed that each episode is a stop, if not a reset, in Arno’s progress and evolution. Particularly the sounds he starts to do that completely disappear and take a long while to come back. Of course seizures are very tiring, and the medicine is also a significant obstacle.
Apart from the epilepsy, Arno has chronic eczema especially on the legs (occasionally) and because of his very sensitive eyes he often has allergic conjunctivitis.
During Arno’s first year we had already noticed a total absence of imitation, but being our first child we didn’t realize the impact of this problem. So it is during Arno’s second year that his cognitive and psychomotor delays became more obvious. At that time the first diagnosis came as “Autism Spectrum Disorders”. In fact Arno has particular attraction for some materials and patterns as well as stereotyped-repetitive movements which are better now, working a lot on these behaviors.
The more he was growing, the more the development problems appeared to us and up to now Arno can’t do anything alone, each evolution takes a long long time… but finally happens (repetition being the main success factor) !
At 9 months Arno started to go to the nursery, but as his problems became more important a special half time schedule had to be set up, with an extra person coming for him. At age 3, Arno could go half time to kindergarten with a helper and will start a fourth year next Sept. 2015. The problem is that in France these helpers don’t have any training and only one out of three really managed with Arno…We are on a waiting list for a “medical educational institute” (school for disabled children in France), hopefully for next year because we will not have any other solution for Arno to have an appropriate daily support. Arno started “special training” at the hospital at age 2: speech therapy, psychomotor therapy, art and music therapy. Unfortunately, these therapists were not specialized and it is only since Sept. 2014 that we have found the therapists (speech and psychomotor) who are really specialized with non-verbal children. Arno has made wonderful progress since!
Nearby, Arno has started an ABA (Applied Behavior Analysis) therapy since Nov. 2012 which has helped him a lot: learning to point with finger, to express himself with gestures, to express yes/no with the head…
We are lucky to have found a very good therapist formed in the US because these behavior therapies are not much developed in France.
After another genetic testing with deeper research and comparison to ours (in 2012, it took 9 months and came back without anomaly again), the geneticist who follows Arno since his birth told us about NCBRS in summer 2013. The Smarca 2 gene is not studied in France and the test had to be done in Spain. That’s how, finally, the diagnosis of NCBRS was finally given for Arno in March 2014.
Concretely, the diagnosis doesn’t change anything for Arno, because this syndrome is so rare that it is almost not studied yet. But in reality it has its importance. First, we could feel less alone meeting the NCBRS family on facebook and learn a lot thanks to the other parents!
Furthermore, the geneticist and her team developed a specific test for amniocentesis and so we felt serene to enlarge the family. Arno is not very interested yet by his little brother but he looks happier and quieter than before.