Wednesday, October 26, 2016

Celebrating my son

It has been a very rough year and October has been a very tragic month. But regardless what it is happening in the outside world, I still have to face my son's challenges. Autism has make his life very challenging. The challenges go from struggle to relate to people following with withdrawn from the environment to stopping his development. It was not this way when he was developing with just Down syndrome. He doesn't have the major health issues related to Down syndrome. He is one of the very few kids that it is seeing at the local Down syndrome clinic that has a good health. We just go the Down syndrome clinic once a year to waste money, as my husband says. Because our son just goes there to be monitored. He just have very few health issues, which are very mild and under proper treatment.
  • He has AAI (Atlantoaxila Instability), but the doctor says is slightly off considering his genetic disorder, so there is not concern about it. The recommendation is just to monitor him twice a year. It has not changed in the last 5 years. 
  • He is also nearsighted. It has not gotten worsen, his prescription remains almost the same all these years with the possibility that he can grow out of it. This means that he may not need glass in the future.
  • He also has hypothyroidism and he is taken a small dosage. His thyroid medication was decreased three months ago after his gut issues began to improved. It was decreased again a few weeks ago.
Tommy doesn't get common colds often and it is not congested all the time as it is expected for having Down syndrome. This is because he has been genetic blessed with ear, nose and throat ducts a little narrower than typical children, but not as narrow as kids with the same genetic disorder. The doctor that made the ENT exam several years ago was impressed because it was the first time he saw this in a child with Down syndrome. His neuro-typical bother has had more ear infections than Tommy. Tommy has never had a surgery and according to an extensive testing while he was born, all his organs were performing perfectly. Other remarkable fact in Tommy's health is that he outgrew his Asthma diagnosis about 9 months after he received the diagnosis. This proves that Down syndrome is not a cookie cutter and doctors should be more open minded about it.

When he only had Down syndrome, he was developmentally doing many things according to his age. Even when he had challenges due to low muscle tone, he was gaining skills, so he was constantly progressing. He learned to wash his hands before he learned to walk. 

However, there are many manifestations when it comes to Autism. But facing Down syndrome and Autism at the same time makes the dynamic more challenging and interesting because it makes him less compliant and maybe with more behavior issues if he would only have had Down syndrome. Here is a study that make this clear:

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome.

Here are some manifestations of Autism in my son:
  • Regressions on all developmental areas, including fine motor and gross motor skills. Some kids with Autism have experienced regression in the motor area, which is due to Ataxia and Mitochondrial dysfunction. But I have not found any information on massive regressions like my son experienced in kids with only Down syndrome. 
  • His Great challenge is communication, not speech. Tommy has been blessed with good articulation and tangible speech, which is one of the main struggle for many kids facing Trisomy 21 (Down syndrome). But for him the is issue is to learn to use the power of words as many kids with Autism where gestures is very limited, 
  • My son cannot relate to people, while most kids with Down syndrome are very social, he rejects people. I was rejected by him when Autism began to manifest. 
  • Regid routines is a struggle. Because it sets him off and I don't know how to help him. 
I had a meeting with special Ed. teacher and she expressed to me that people may not give credit to Tommy, but he is VERY SMART. He has been showing to her that he knows a lot more of what he normally shows. She sees what I see! She was working with him one day and she told him that they would be working on something. She left the desk to look for something and Tommy told her: No, I want to eat. We know Tommy can speak, but we don't know what stops him to communicate. We personally has experienced at home many times where he has communicates his thaughts with a perfect speech. A month ago, he was playing with the bathroom light by turing it on and off repeatedly, but it didn't turn anymore because it got broken. When it stopped turning on, he said: Oh, Oh, What happened? I have noticed he usually speaks in context when people are not directly looking at him. He has done an enormous progress with eye contact, but he still struggles with it specially with unfamiliar people. This doesn't sounds like Down syndrome!

Yes, there are differences in having Autism and Down syndrome combined. I am not tiered of saying it neither of posting about it because the science community is not doing much about it. If you look for support, there is not much hope. I have known kids in their 20s with dual diagnosis who are not potty trained and they are socially withdrawn. It is not the paretnes faults! The combinations of both conditions is not well understood as Down sydnrome along and Autism along are not well undesrtood. Parents are completely alone fighting against something nobody really knows what to do or how to help.  Is this going to stop me to fight for a better future for my son? ABSOLUTELY, NO. I was reaised exacly to go against the ODDS. So this is a challenge, nothing is written on stone. Based on my experiecne, the answer to help my son is on biochemistry and neuroscience, but these science fields are not easy to reach for many families and the monetary demand is huge.

This is the Down syndrome month where I should be posting about Down syndrome, but Down syndrome wasn't our main challenge before and it is not our main challenge now. I am proud of my son, but we don't fit in the Down syndrome side neither the Autism side. I honestly feel more comfortable, familiar and Knowledgeable  with the Autism than Down syndrome. Because Autism is our main challenge. Regardless the diagnosis, I have a lot to celebrate about my son, but not necessarily due to Down syndrome neither Autism.