Monthly Archives: April 2016

Internet and the M-CHAT

Computer
It took me less than a week to diagnose Guto. Yeah, you read it right, I diagnosed him! Besides, isn’t that what google is for? Jokes aside, I searched all kinds of websites to read more about autism. I ended up finding a really good tool to help me verify if my diagnosis made any sense, if I was on the right track and if I fear about my son being autistic was correct.

The M-CHAT-R is a validated instrument for screening toddlers between 16 and 30 months of age used to assess the risk for autism spectrum disorders (ASD).The primary goal of the M-CHAT-R is to maximize sensitivity, meaning to detect as many cases of ASD as possible. Therefore, there is a high false-positive rate, meaning that not all children who score at risk will be diagnosed with ASD. To address this, there are Follow-Up questions (M-CHAT-R/F). Users should be aware that even with the Follow-Up, a significant number of the children who screen positive on the M-CHAT-R will not be diagnosed with ASD; however, these children are at high risk for other developmental disorders or delays, and therefore, such evaluation is warranted for any child who screens positive. The M-CHAT-R can be scored in less than two minutes. (2009 Diana Robins, Deborah Fein, & Marianne Barton) The score ranges from 0-20, where from 0-3 is low risk for ASD, 3-7 medium risk and 8-20 high risk. Guto scored 8 on the M-CHART-R and it was high again on the follow up questionnaire. 

You can assess your child’s risk level here

So now I was in a battle against time to get him a real evaluation by a professional. Everything I read regarding ASD said that early intervention was the key for a better outcome, and I was determined to get him started in whatever intervention was necessary as soon as humanly possible. I can tell you one thing for sure; I never imagined it was going to be this hard to get the evaluation!

Image Source: Unsplash

First Speech Evaluation

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Guto was 19 ½ months when we had his first speech evaluation appointment and we were lucky that it only took about a month and a half to be scheduled. We also had an audiology appointment the same day to check his hearing, since he had tubes put in when he was 6 months due to recurrent ear infections.

 The procedure used for the audiology assessment involved sitting him at a table, calling him by his first name and making noises at different intensity levels. The speakers were placed to his sides and he would look to the direction the sounds came from, which surprised me since we never call him by his first name. I had notice he didn’t always answer to me when I called him, but the test demonstrated that he could hear really well! 

 The therapist sat on the floor with him for the speech assessment and allowed him to play while she observed him. She asked him to do a couple of things and watched his reaction. She came to the conclusion that he was a little more delayed than she had expected. She thought the reason was due to him being exposed to two languages (perhaps confusing him), the amount of TV that he watched (low stimulation) and the fact that he was still using a pacifier. She told us just to work with him at home for the next 6 months by limiting the time on TV and ween him on the pacifier and bottle. We were encouraged to talk to him as much as possible at home in order to stimulate him describing everything we were doing and see if he would improve. She told me that if I was concerned in the meantime that I could call and we could see what the next step would be. 

 I didn’t like that they didn’t start his therapy right away because there clearly was a need for it. I am very much a proactive kind of person. Why wait to see if something gets worst before doing something about it? So I started reading more about speech delay, things I could do to help improve his speech and just about anything I could find about the subject. After looking into this matter for a couple of days I got really worried about the possibility of him being autistic. Everything I read about delayed speech would take me to this subject. And that’s when I started to really look into what autism was about

Image Source: Unsplash

A mother is born

“The moment a child is born, the mother is also born. She never existed before. The woman existed, but the mother, never. A mother is something absolutely new.” (Osho)

I was a mom, OMG! It took me a couple of days to realize that from that point forward I would have this little fragile and beautiful boy to care for. I always read everything I could think of to try to get prepared for this moment, but there is nothing that truly prepares you for motherhood. You will be, for at least 18 years, responsible for someone else’s wellbeing, education and emotional life. Yup, they depend on you for everything. To eat, get dressed, get changed, take a bath and you need to learn what they are trying to tell you with different sounds. Each cry has a specific meaning, and you will worry every time they sneeze, or cough or stop eating or that they are meeting the milestone they are supposed to. Motherhood is so much harder than I had ever imagined. You never stop thinking about if you are doing things right, and you will never stop worrying, never. Your life changes forever and that tiny little human now has you on the palm of their little hands. They own you for life and you will do whatever it takes to make sure they have everything they need, you will move mountains if needed.

Belle - Guto_Fotor

Every time we went to the pediatrician they asked a couple of questions to make sure Guto was developing the way he was supposed to. He always met the milestones for his age. He babbled and rolled and held his head up at 3 months, he sat without support before he was 6 months, he waved goodbye and shook his head at 9 months, he crawled when he was 10 months and walked shortly after his first birthday. He pointed to two parts of his body, he waved bye and shook his head, among other things you would expect at his age. Everything seemed to be going as planned. At his 12 months checkup the doctor asked me if he pointed to things, I told her he always used his hand to point and show things he wanted. Although she didn’t say much about that particular behavior I could tell the look on her face expressed that was not what she expected to hear. She asked other questions and everything seemed fine.

He was still not saying much at his 18 months checkup. He had added 2 more words to his list. Everyone would always assure me that I shouldn’t worry, boys speak later than girls and he had two languages to learn and that was probably the reason he was not saying more things. And of course, every child develops in their own time, and I didn’t need to worry. Everything else looked great. The doctor said she was not worried about his limited vocabulary and that we shouldn’t worry about him not saying much until he was 2. The process for things like these tends to take a long time to get through the system so the doctor decided to go ahead and give us a referral for language evaluation. She said that he might be talking by the time we got to see the specialist and if that was the case we could just cancel the appointment.

Image Source: Private Archive

The Sweetest Gift

“For this child I have prayed and the Lord has granted the desires of my heart” ~ 1 Samuel 1:27

His delivery was an awesome experience. I checked in at the maternity on the night of 05/29, I was 39 weeks. My dad had a flight to catch back to Brazil at 5:30 pm the next day. Not much happened through the night. On the next day I started progressing a little better, but at that rate we didn’t believe my dad was going to be able to see him before he had to leave. The nurse came to check on me at 3:30 pm just as my dad was getting ready to leave to go to the airport and to our surprise she said I could start pushing! My parents, Joe and Briana (my stepdaughter) were in the room the whole time. We didn’t get a lot of pictures since my designated photographer (Briana) was too emotional and ended up not  taking any pictures. At 4:11 pm on May 30th 2014 I finally got to hold my life dream in my arms. Unfortunately, my dad didn’t get to hold him because he was running late already and he would miss his flight if he waited any longer. I was just so glad he was there to witness my miracle baby’s birth. Everyone was doing what they could do make this happen so there was no one without a teary eye in the room.

I instantly fell in love with that tiny human. He was perfect in every way! He weighed 6 pounds and measured 19 inches. Ten little finger and ten little toes. And then a bitter sweet realization downed on me – he was not only mine anymore. It was time to share him with the world.

Guto feet

Image Source: Private Archive 

Pregnancy

If you think the waiting game and mental torture was over, you have another thing coming because after the positive blood test I had to wait another 2 weeks for the ultrasound that is done at 6 weeks to see if there was a heartbeat and if there was more than one embryo.

I started bleeding at 5 weeks I was devastated because I thought I had miscarried. We called the clinic and they asked me to go in for an ultrasound. The exam showed a little bleeding in the uterus, but also showed a beautiful embryo sac, one beautiful embryo was still growing inside me! Since the baby was not at 6 weeks yet, they couldn’t see nor hear the heartbeat so I had yet one more week of waiting.

embryo 5w_Fotor
5 weeks embryo pic. *

Week 6 finally arrived and I couldn’t wait to get to the clinic. This was a huge moment to know if everything was in fact going to plan. The ultrasound showed the flickering of our baby’s heart, and I heard the most beautiful sound I had heard until that moment. Strong beats. Sounded like music! Well, a slow song for the doctor. He said the heart rate was a little lower than he expected so he told us to come back 2 days later to double check.

When we checked the HR a couple of days later everything looked great finally! Now I was ready to be discharged from the fertility clinic to go to my regular OB/GYN. Well, almost. I did go in one more time for an ultrasound to check if everything was ok, since I was still spotting.

Since I was a high risk pregnancy due to my age (remember I was 35) we did have an extra test when I was 12 weeks to check for syndromes or anything abnormal, the test is called the nuchal translucency. In Brazil everybody does it, but in USA only if you are at risk,
During the test, to our surprise, we were able to find out the baby’s gender. We were blessed with a healthy baby boy. Not that it was a big surprise to me because I told my husband since I found out I was pregnant that we were going to be parents to a boy, I always knew. In addition to the ultrasound they drew blood for a genetic test, to also check for the most common syndromes, but a more accurate test. You cannot imagine my relief when they called me a couple of weeks later with the results and informed us our baby was a perfect healthy boy.

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No doubt we were having a boy!*

After that initial scare my pregnancy was just perfect. I felt like the most beautiful woman on earth and I loved being pregnant. At work people would make fun of me because I would rub my belly constantly. They even made a bet that I couldn’t go 5 minutes without rubbing it, and of course I would lose every time! I just wanted him to know how much he was loved, and that I would always be there for him.

You might think I am crazy but I miss my belly. I miss the feeling of protection I had over him,he was all mine. I just wanted to keep him there, safe forever and at the same time I couldn’t wait to have him out and see his beautiful face and hug, squeeze and kiss him as much as I wanted to. I felt like I had died and gone to heaven!

Maternity

*Picture Source: Private Archive

The two weeks waiting period is over

Joe and I made a “pact” that, since I was not very optimistic about this whole process, he was the one in charge of getting the result from the clinic, so I was not allowed to answer my phone. I got my blood drawn in the morning around 7:30, and they usually called with results around 2:00 pm, so it was a long, torturing wait. I don’t remember exactly what I was doing, but around 11:00 am I missed a call from the clinic and they left a voice mail. I immediately called Joe to have him call them back to see what they had to say and it took every ounce of discipline I had not to listen to the message they had left me. I was so nervous that I thought my heart would come out of my mouth. Joe called me back a little after and told me the person in charge of the results was out for lunch and that she would call him back when she returned. At this point I was beyond anxious. I thought I was gonna die!

By chance, a friend of mine, the one who actually introduced me to my husband, came by our house and kept me company for a while, which helped to keep my mind busy just enough to keep from thinking about the result. We were talking in the kitchen when suddenly Joe came in through the garage door. By the look on his face I could tell the news were not what I wanted to hear. So I said:

ME: It didn’t work again right?
JOE: We can try again if you want to.
ME: No, this was the last try, I don’t want to go through all this again.

JOE: You won’t need to, WE ARE PREGNANT!!!

 I didn’t know if I wanted to hit him or hug him the most. I know I asked him at least 10 times if he was not joking. He said that if I didn’t believe him I could see for myself and gave me a home pregnancy test to take away any doubts!  Needless to say, I cried like a baby. Finally tears of joy! It still brings tears to my eyes every time I think about that day. Definitely one of the happiest days of my life!
lab test_Fotor

Let’s start from the very beginning

I don’t know about you, but ever since I can remember my biggest dream was to be a mom. I truly wanted that more than anything else in this world. When I was a teenager I used to tell everyone I wanted to have 10 kids. As time went by that number decreased and eventually I would have been happy if I could have at least one healthy child. However, I always told myself I would not get pregnant after the age of 35. You ask me why? Because the incidence of birth defects goes up considerably past that age and I was very much aware of that fact as my first degree was in biology and genetics. I knew the statistics all too well and I had always been afraid of bringing a special needs child to this world. Not because of the amount of work and effort that might be involved, but mainly because I wasn’t sure I was strong enough to handle it.

When I met my husband I was finishing my second degree to become a registered nurse. I was 33 and he was 43. He always knew about my desire to have a baby and always reassured me that before I was 35 we were going to try having one, or maybe even two! I never imagine in my life that I would have any issues getting pregnant, but during one of my exams I found out I had a condition called decreased ovarian reserve (DOR) so in vitro fertilization (IVF) was in our future for sure to increase the chances of us having a baby. And the clock was ticking!

We went through our first round of IVF when I was 34, since I didn’t have a lot of eggs to start with we ended up with 4 beautiful blastocysts (5-day embryo). We transferred 2 embryos and froze 2 just in case. Once the procedure was over there was no doubt in my mind that it had worked and that I would be pregnant, possibly with twins! After all, I didn’t have any major health problems, just the decrease egg count, and that was taken care with the round of injections to stimulate my ovaries and we ended up with those beautiful embryos. The morning I was going to get my blood result to see if my pregnancy test came back positive I found out my grandfather had passed away in Brazil. I was extra hopeful for good news, but they never came. I was mourning the loss of my grandfather and the two embryos take never developed inside me. December of that same year we transferred the 2 frozen embryos, but again luck was not on our side. We decided to take a break for almost a year to give me time to heal emotionally and financially. A round of IVF is not cheap and we didn’t have insurance coverage at that point because I had just started working at our local Children’s Hospital.

August 2013 came and we decided it was time to try again. I was 35! We changed clinics and started the whole process again… Countless injections, ultrasounds and lab draws almost daily for 2 weeks. It may not seem like a lot, but the mental stress behind all of this is soooo heavy. I honestly don’t think anyone could fully understand or appreciate the process without going through it. Imagine the stress of every single test result! Is there an egg? If yes, how many? Out of those, how many are good enough to be used? How many got fertilized and became viable embryos? How many embryos made it to at least day 3 (day 5 would be better)? This time we only had 2 embryos and the doctor wanted to transfer them at day 3 because he didn’t think they would make it to day 5. There is a 2 week waiting period after the transfer before I could do a pregnancy test and to me that was the longest 2 weeks of my life! Since the embryos were only 3 days old before they were transferred I was trying not to be too excited about being pregnant because of all the disappointment I had experienced previously. My outlook on my chances of becoming pregnant had become more pessimistic over the years, but there was a sentence uttered frequently by some of the staff at the clinic that kept me hopeful: “All you need is one” (good embryo).
Our baby's first picture! Source: Private Archieve
Our baby’s first picture! (Source: Private Archive)

 

Food for thought…

Blog - Homepage

I would like to say a few things before we start telling our story. I know a lot of my friends, and even some family members, may find it weird that we started a blog before telling them about our son’s diagnosis. We did tell a handful of people, but we found it to be very difficult to talk about it and fearful of people’s reactions. No, I am not ashamed or embarrassed about his diagnose. However, I am afraid of how the lack of people’s knowledge about it will influence the way they treat him. Which was another reason to start the blog, to bring awareness and information about Autism. The thing is, all this is really new to us and it is still very hard for me to talk about it without crying. Have you heard about the stages of loss and grief? I am definitely still going through those stages, which I will write more in depth about those feelings in the future, but I just wanted to convey my way of thinking and dealing with this matter.  The best way I have found that works for me to cope with difficult situations is to write about how I feel. I hope you will find our story compelling and helpful. The bottom line is that my husband and I want the very best for our baby and we are willing to do whatever it takes in order to help him have as normal of a life as possible. Our goal is to help our son and as many families as possible who may be struggling with autism or any other debilitating disease. Thank you for your support and we hope you will check back often to see our progress!

Image Source – Personal Archive