Max's Story
Flash back to November 2014, Max's parents wrote this letter to their friends & family to share the diagnosis of their unborn son...
Tiffany and I want to fill you; our family, friends, and community in on what is going to be the next step in our life. We are just over the halfway mark of our pregnancy with our first born, and want to tell you a bit about our journey so far. Tiffany and I went to get an early ultrasound at 12 weeks so that we could see if she was having twins because she was showing really early. When you sign up for the early ultrasound, it is accompanied with some “extra” genetic testing, something called a Quad Screen. We have said from the start that we did not want to create paranoia and see what our risks were for any of the tests that they screen for, we really just wanted to see the baby early. We went in and saw our little miracle, ten fingers and ten toes, and were on our way. The second part of the test was having her blood drawn around 16 weeks.  Tiffany went for her blood work, then a week later we got a call saying that there was an error with the blood work and that it had to be repeated.   So Tiffany went in for another blood draw.  One week later we received a call from our midwife saying that the quad screen came back 3-5% out of the normal range and that we had to see a genetic counselor at Umass for further explanation and testing. At first this was really scary, then when doing some research on our own, we learned that the results of the Quad screen were only 85% accurate.  Only being 3-5% out of the norm, and with an 85% accuracy of that, we still had very little chance of anything being wrong. We kept this news quiet because we didn’t want to worry any of our immediate family because everything was just chance.  We have always trusted the process that things will work out, and it always have for us. 
We drove to Umass for our appointment with the Genetic Counselor.   Upon arrival, we learned they would be performing another ultrasound.  The second ultrasound was a lot longer, we were in the room for a long time, and saw every detail of our baby. They could even tell us the gender, but we did not want to find out, so we looked away and they took notes.  Immediately following the ultrasound, we met with a genetic counselor. She studied our ultrasound and previous blood work and talked to us about what we were at risk for, we had a 1/20 chance of having a baby with Down syndrome. She talked to us about Trisomy 21.  Trisomy 21 is when Meiosis happens between the sperm and the egg, and when the duplicate copy of each of the 46 chromosomes happens, sometimes the 21st chromosome gets stuck together and pulls to one side, so another 21st chromosome is created, thus having 3 units of the 21st chromosome. Down syndrome is an outlier in nature, and parent’s genetics do not have a large influence, it is just something that happens every 1/691 times when a cell’s chromosomes split. The counselor also explained a “soft marker” that showed up in our ultrasound.  Our baby had “bright bowels”, known as Fetal Echogenic Bowel.  This soft marker was an indicator of Down syndrome (a 1 in 20 chance).  Fetal Echogenic Bowel means that the bowels or intestines show up a little bit brighter on the ultrasound than usual, so they take note and follow it throughout the pregnancy. Because of the results of our blood work and our ultrasound, our genetic counselor explained our options for further testing.  We could do an amniocentesis, where they draw through the placenta to get child cells and DNA, or we could go with a non-invasive test called Cell Free DNA analysis, also known as Maternity 21. We said from the start we did not want to do the amniocentesis, we just didn’t feel comfortable with the risk of miscarriage to the baby (1/100 chance). We choose the Maternity 21 test. The test takes a look at the mothers blood and for every 20 parts mothers blood/DNA, there is 1 part our child’s blood/DNA. The test is 95-99% accurate. Tiffany got more blood drawn, and they said they would call us with the results in 7-10 days. 
Those 7 days were long and suspenseful.  On Tuesday morning, Nov. 4th at around 10:30am, we received the phone call we had been waiting for from our genetic counselor.  She shared with us the results of our test, they came back positive for Trisomy 21 and that we are going to have a baby with Down syndrome.  At first this news was breath taking.  We didn’t know what to feel or think.  We were both just trying to absorb the information and a million thoughts were racing through our heads.  What would this mean for both the baby and Tiffany during pregnancy and delivery?  What medical conditions would our baby have to face in the future?  How would our family and friends respond to the news?  What type of life would our child have?  Would they be able to attend normal schools? And the list continued…
We immediately knew that we needed to reach out to a specialist for help in the next step.  We researched Down syndrome specialists in Massachusetts and began to send emails and make phone calls.  We got in touch with the coordinator from the program at Mass General.  She was very helpful and offered us an appointment for the Friday of that week.  The Mass General website also had some great resources for parents.  We cleared our schedule for the remainder of the day and went home to do research.  We watched presentations from doctors, read articles and blogs and downloaded books.  As the days went by, we continued to absorb as much information as possible.  With that, we found that the more we knew, the less scared we are.  Many of the parent’s blogs and doctors findings were very heartwarming and touching.  In the first week there were many tears, but the tears of fear soon shifted to tears of joy.  We very soon began to understand that this was NOT a bad thing, it was just different and that we were actually blessed to have this opportunity.  
 On Friday, November 7th, we had our appointment with the specialist at Mass General.  We were very excited at this point to learn about what the next steps would be.  The entire experience at Mass General was outstanding!  We met with Dr. Skotko who is an incredible doctor who specializes in Down syndrome.  He was genuinely there to listen to our concerns and educate us on the experience we have ahead of us.  He acted as if he had all the time in the world to give just to us (even though we knew he had patients right next door)! What really touched us is the reason Dr. Skotko choose this career path is because his sister has Down syndrome.  Dr. Skotko reassured us how far modern medicine has come and the ability there is now to be proactive in every step along the way.  He reassured us that the only limitations our baby has are the ones that we, as parents set for them. Originally we were not going to find out the gender of our baby.  After learning of our diagnosis and reading about other parent’s experiences, we decided that finding out the gender would help us connect with our child on a deeper level. We had the honor of being a first for Dr. Skotko that day!  It was his FIRST time telling a family the gender, as usually they already know when they get to him.   We also got to meet Ben that day.  Ben is Dr. Skotko’s assistant who has Down syndrome.  He came into our room and told us a little about his life.  Ben is 26 years old and recently graduated from college.  Ben is very independent, he works 3 jobs, lives in a community with 4 other people and takes the MBTA to and from work each day.  He enjoys karaoke, team sports and diet coke of course! Ben is a hardworking, fun loving guy and made us laugh. 
It was a great experience to meet him! We left that day with a smile on our face, we knew we had found OUR doctor.  Dr. Skoto was the perfect fit for our family!
On the Wednesday November 12th, we had an echocardiogram scheduled at Umass. This was the last big appointment, as babies with Down syndrome have a 40-60% chance of having a heart defect. If this came back clear, then delivery and our baby’s health would be as normal as a regular child. We spent 2 hours in the ultrasound room with a great nurse and very informative pediatric cardiologist who looked at the baby’s heart very thoroughly. At the end of the appointment, he assured us that our child's’ heart was in great working order, and that everything was functioning the way it was supposed to. This was the weight of the world lifted off of our shoulders, as now we can get back to enjoying the gift of our first pregnancy and child, knowing they are healthy and safe. 
We could not be more excited about this news, as Tiffany and I have been training our whole lives for this event, the birth of OUR child.  Every time we are able to share our story, it's a sign of relief for us knowing our baby is loved and that we have such a great support system!  
We KNOW we are the right people for the job and are excited to meet our baby BOY Maximus!!!
With much love,
 Nick, Tiffany, and Max
"On Tuesday morning, Nov. 4th at around 10:30am, we received the phone call we had been waiting for from our genetic counselor.  She shared with us the results of our test, they came back positive for Trisomy 21 and that we are going to have a baby with Down syndrome."
Max is HERE!

A note from Max's parents:

"Words really can't describe how awesome our little guy is. He brings out the best in everyone around him and has opened our eyes to all the good in the world. One of our goals as a family is to show others around us that inclusion is KEY and that Max and every other child with Intellectual disabilities is just like everyone else- they have a TON to offer this world, we just have to open our arms and let them fly. Every accomplishment, even the smallest is worth celebrating!"
- Nick & Tiffany
Newborn photographs courtesy of Renee Walston Photography
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