Down Syndrome Awareness and Advocacy Month Day 5: Hyper-vigilant about Hypothyroidism

Down Syndrome Awareness and Advocacy Month Day 5:

Since Jackson's birth, I have tried to learn as much as I can about several health topics. One of these is thyroid function. People with DS often have thyroid issues, specifically hypothyroidism, and they are often underdiagnosed. In fact, as the graphic shows below, many of the characteristics long associated with Down syndrome mirror the common issues seen in untreated hypothyroidism.

From early on, Jackson had many symptoms of hypothyroidism. Here are some of the most common symptoms: mottled (lacy) and dry skin, cold extremities, constipation, sleepiness, low muscle tone, slow growth, and dry/brittle hair. Jackson had most of these! We thought we just were super lucky to have a baby who slept ALL the time, and no matter how much coconut oil I slathered on his little body, his skin was still so dry, rough, and almost purple. 😔

When we had his first thyroid tests run at his pediatrician's office, a mom told me very early on to always ask for a copy of all lab results. Thank goodness I took her advice! When testing for thyroid issues, many doctors only run the test for TSH and Free T4. Jackson's first TSH results came back at over 8. This was within range, and his doctor told me everything looked good. However, research shows that optimal function occurs with a TSH closer to 2. Jackson clearly had many of the commons symptoms, but his doctor refused to look at the research and would not treat.

Thankfully, other moms encouraged me to seek out another doctor who was more open treating thyroid. This was my first time to put on my big-girl pants and advocate for what I knew my son needed.

With a new doctor, we were able to get Jackson on synthroid, a common thyroid drug, and many of his hypothyroid symptoms improved and his TSH and free t4 went to optimal numbers. However, this was just the start of our thyroid journey!

Jackson had always had reflux, and when I say he had reflux, I mean he was a fountain. Pretty much whatever liquid went in came back up. We both smelled like sour breast milk for the first 9 months of his life! Reflux medicine did nothing to stop the fountain, but they did keep him from being in pain. What I didn't know is that constant spitting up was also symptom of hypothyroidism.

So even once he was on thyroid medication and his numbers were where they were supposed to be, he still constantly spit up. It became worse when he started eating solids. He would vomit up chunks of undigested food hours or even the next day after having eaten it. I knew something was not right.

We took Jackson to see a pediatric gastroenterologist in November of 2014 because we assumed something was wrong with his GI tract, and the doctor ordered several invasive tests that would require Jackson to be put under. We scheduled the tests, but something in my Mama gut told me to hold off on them.

In mid-December we had our first appointment (via Skype) with Dr. Erica Peirson scheduled. She is a board certified naturopathic physician in Portland, Oregon, who has become known in the DS community as one of the go-to doctors for thyroid treatment. We decided to wait until our appointment with her before moving forward with the GI tests. Thankfully, we made the right call!

Dr. Peirson had us have a full thyroid panel run for Jackson, and these results showed what we were missing by just testing TSH and Free T4. She informed us that reverse T3 should be 20 or below, and Jackson's was 58!! Also, when we told her about his spitting up liquids and vomiting undigested food, she said that delayed gastric emptying (what was causing the food to sit in his stomach for hours) was a classic hypothyroid symptom as well.

She suggested that we switch to Liothyronine, a thyroid drug that contains only the T3 hormone (Synthroid, what Jackson had been on, is a straight T4 drug). She explained at the time why this would lower his reverse T3, and I'd like to say I remember what she said- but I don't and won't try to explain it for fear I would get something incorrect. What I DO know is that the new drug did what it was supposed to do!

Within a couple of weeks, Jackson was no longer spitting up or vomiting food. His skin was already looking healthier, and he started to have more regular poops. At his next thyroid check, his reverse t3 was down where it was supposed to be! Thanks to Dr. Peirson, we avoided unnecessary anesthesia, and we never have had to return to the GI doctor.

Because of our experience, I have become passionate about sharing our story with other moms who have questions about thyroid. Here are some of the takeaways I've learned that I want to share with others. I am obviously not a medical professional. These are just observations and tips others have shared with me along the way:

• Always ask for a copy of any lab results. Some doctors accept a wide range of thyroid numbers that do not lead to optimal function.

• Some doctors accept higher numbers for thyroid within children with DS, saying that it's just a "part of DS." I've learned never to accept that statement; if they would treat a typical child for the same issue, they should consider treating my child. (This goes for all health issues, not just thyroid!)

• Many doctors will only run labs for TSH and Free T4. To get a full picture of thyroid function, you should ask for a full thyroid panel, which includes TSH, Free T4, Free T3, Reverse T3, and thyroid antibodies. 

• The "wait and see" approach many doctors apply to treating thyroid in children with DS can be detrimental to their development, both short and long term. Thyroid hormones regulate the production of new neurons, so untreated hypothyroidism can slow cognitive development, stunt growth and impair digestion, which can lead to additional developmental issues.

•For the above reasons, make finding a doctor who fully understands treating the thyroid in children with DS a priority.

Below is a list of resources I have found helpful when trying to learn more about thyroid:

• Down Sydnrome: A Day-to-Day Guide by Andi Durkin- Thyroid and DS go hand in hand
• Optimizing Health in Individuals with Down Syndrome- Part 3 Hypothyroidism
• Is Your Thyroid Doctor Using the Old TSH Lab Standards?
• Reverse T3 in Infants and Children with Trisomy 21 Research Proposal Dr. Erica Pierson
• T21 Action! Podcasts Episode 3- Dr. Erica Pierson
• Stop the Thyroid Madness
• Peirson Center for Children

Down Syndrome Awareness and Advocacy Month Day 4: The Heart of it All

When we first received Jackson's diagnosis, we were overcome with a wide range of emotions. Most of these stemmed from our preconceived ideas and our lack of actual knowledge about Down syndrome. Of course, at pretty much the same time, we also had a whole host of doctors telling us about all the health issues that can come along with DS. Talk about overwhelming!Over the next few days I will share more about our personal experiences with some of the health issues children with DS may have, but the biggest message I want to get across is that Jackson is a healthy, thriving two-year-old. I wish someone had told me when he was born that having DS and being healthy are NOT mutually exclusive.

While about 50% of children with DS have some sort of heart condition, Jackson does not. However, because it is so common, I thought it was an important topic to cover. Because we don't have firsthand experience with this, some of my friends from my 2014 DSDN Rockin' Moms group have offered to share their stories. Thank you, ladies, for sharing your heart warrior stories with me!

"Soleyl was born with an ASD and VSD. She had OHS at 5 months. She recovered amazingly and was out of the hospital in 4 days. She never showed signs of heart failure prior or needed oxygen." - Shakyra Cora

**"I am not sure how common these are with kiddos with DS but here is her whole story. Let's start from the beginning, 2.5 years ago! She was born on feb. 20th, 2014. She was born at 28 weeks gestation and only weighed 1lb 7oz! She fought very hard, and we were released after 117 days in the NICU. She had an AVSD and had her first open heart surgery in Oct. 2014. She rocked it! 

**She was then diagnosis with Pulmonary vein stenosis in all 4 of her main veins (narrowing veins that run from the lungs to her heart). This news was very devastating; it is pretty much a death sentence and can never be cured. Children's hospital of Colorado told us to make her comfortable and that there was nothing more they can do for her. So of course I wasn't going to give up on her that easy! I did a lot of research and found that Boston Children's had a specialist that could hopefully help Olyvia. We flew out to Boston in July 2015. They performed her second open heart surgery (way more intense and critical than her first). It was a very long and emotional 8 hour surgery! she went back to the ICU with her chest wide open just in case they had to get in there quickly. How many parents can say they saw there child's heart beating from the inside? We stayed a long 21 days at that hospital. She left there on a medication called Gleevec (a chemo drug); this medication is supposed to stop the growth of the disease in her veins. She was on that nasty medicine for a year! But you know what... her veins are now WIDE open! She is truly a miracle! 

We thought all of her medical problems were starting to get resolved. Then back in April 2016 Olyvia under went a sedated echo to check her veins (gets them every 6 weeks) her heart rate jumped to 305bpm! They immediately woke her up and called and said we need to get to the ICU asap. They said they were going to cardiovert her (use the paddles and try and shock her back to normal sinus rhythm). They put her back under and started to shock her, her heart got really tired and stop beating! They then began to do chest compressions to bring her back. She was gone for over 2 minutes, but they were able to bring her back. She was then diagnosed with atrial flutter. From March 21st to August 7th, 2016, she has been flown flight for life to Children's THREE times because of her flutter! The first time her heart rate was back up to 300 and the doctors decided to put in a loop recorder (a small device that reads when her heart stops and/or when her heart beats way to fast and sends the information back to Children's). She was released fairly quickly and we were sent back home. 

She then started to get a fever and her chest looked like it had a golf ball in it. We were then flown back over the mountain, and they took out the loop recorder and her chest was covered in a staph infection! At that time they were talking about a pacemaker but wanted to wait until she got bigger. She only weighed about 18lbs at 2 years old. We were doing pretty good at home, then we check her heart rate on our home pulse ox (which we check daily) and it showed her heart was beating 167bpm. Some of her chambers were double that! We then got flight for lifed the third time on August 7th. They decided to put a pacemaker in this time to help control her rate. They had to open her chest for the third time. The doctors put the pacemaker in her stomach. We were released in 2 days to the Ronald McDonald house to wait for her follow up appointment. Well, on the second day of her being released, she started to have a high fever again, and her stomach was bulging again. We took her to the ER, and they determined she had a hernia under where her pacemaker was placed. So they did emergency surgery that night. They didn't take out her pacemaker at that time. The doctors fought with us and wanted to try and save the pacemaker. Well she was still hospitalized with "big boy" antibiotics. She wasn't getting any better, so they decided to take out the infected pacemaker. (Thank God they did because her heart was very close to getting infected). Her chest then had to be opened for the fourth time!" - Kimber Chapman

**"Jack was born with two heart defects: AVSD and tetralogy of fallot. He was diagnosed in utero, and we met with surgeons and has a surgical plan before we even saw his cute face. He had open heart surgery at 3 months old and was hospitalized for 13 days. It seems like it was such a long time ago, because other than his zipper scar, there is really no sign of it. He is growing and thriving." - Sarah Milbratz

**"Benny had a complete Av canal defect, basically his heart was one big chamber. Our cardiologist was amazing, one of the best medical providers we talked to in the weeks following our prenatal diagnosis. He told us that this was the most common defect in both typical and babies with Down syndrome, and that the outcomes were very good. He said that babies with Down syndrome had an even greater chance of having a good outcome, statistically closer to 99% than the 97% of the total population whose surgeries went well. He also told us that he knew a lot of families who had kids with Down syndrome and that they seemed very happy and were some of his favorite people. I'm so grateful to this man for giving us a different perspective at a scary time when other medical providers were urging us to terminate and emphasizing all of the negative aspects of our diagnosis. 

Our heart surgeon also turned out to be an angel in human form. Handing our precious baby over for open heart surgery was one of the scariest things we've ever had to do, and it was so much easier knowing we had such a great team. The surgery was about 6 hours, and Benny was in the hospital after for five days. His recovery went quickly, and now our only reminder is a little exclamation mark shaped scar on his chest. He has since been cleared by cardiology and will only need to have a yearly checkup with a cardiologist for the rest of his life, but it is anticipated that he will never need another surgery; his heart works just like anyone else's now! The difference from before the surgery when he was struggling to gain weight and suffered from congenital heart failure and pulmonary hypertension, to after the surgery when he gained weight easily and was healthy and strong...it was very dramatic and makes me so grateful for modern medicine and for our amazing heart team. 

A lot of the statistics that we're given about the outcomes of people with Down syndrome include people who were not given this kind of medical intervention. Up until a few decades ago, medical care like heart surgery was denied to people with Down syndrome. So you have to understand that this is why the life expectancy for people with Down syndrome has increased so dramatically in the past few decades. So much has changed. The same is true of cognitive abilities and other health issues that you hear about. Now that we have better health care and modern medical technology, the outcomes for people with Down syndrome are so much better than they ever have been. At the same time, prenatal testing has become cheaper and more available, so fewer and fewer people with Down syndrome are being born. 

This is why all of us parents with kids with Down syndrome are always shouting from the mountain tops that our kids lives are worth living. And they truly are." -Taymar Pixleysmith

For more information about Down syndrome and heart defects, check out this NDSS page.

Down Syndrome Awareness and Advocacy Month Day 3: The Number Three

The number three is a big deal in the Down syndrome community. So on this third day of October, I thought I'd explain why.

The type of Down syndrome that Jackson has is Trisomy 21, and this is the name I actually prefer using. This name refers to the chromosomal makeup of people with this diagnosis. Humans typically have 46 chromosomes. A person with Down syndrome has 47 chromosomes. More specifically, they have an extra, or third, copy of the 21st chromosome-thus the name Trisomy 21.

There are also three types of Down Syndrome: Trisomy 21, Translocation, and Mosaicism. Trisomy 21 is the most common form of Down syndrome with 95% of people who have DS having this type. Someone with this diagnosis has 47 chromosomes in every cell in their body. 

A person with Translocation Down syndrome still technically has 46 chromosomes, but either a full or partial extra copy of the 21st chromosome attaches itself to another chromosome and causes this person to have the characteristics of Down syndrome. Translocation is found in about 4% of people with DS, and this is the only form of DS can be genetically passed down, or hereditary.

Mosaicism is the rarest type of DS; only about 1% of the population of people with DS has this diagnosis. A person with Mosaicism has a mixture of cells that have 46 and 47 chromosomes. The cells with 47 chromosomes have an extra copy of the 21st chromosome. 

This brings me to the misconception that there are different "levels" of Down syndrome. Just as there is no way to know what a typical child, one with 46 chromosomes, will accomplish, there is no way to determine whether a person with Down syndrome, regardless of type, will be "high" or "low" functioning. There is no set spectrum that doctors use to diagnose what children with DS will achieve in their lives. There is no such thing as having "just a touch" or a "slight case" of DS. There are many characteristics a person with DS can have, but these characteristics will express themselves differently in each individual. While some of the physical characteristics of DS are the most easily recognizable, people with DS still resemble the members of their family more than anyone else. 

Jackson's extra chromosome is just one small part of him. Most days we don't even think about it, but it is pretty cool to think about how rare his genetic code actually is. We like to think of him as "chromosomally enhanced"! Below you can see a beautiful picture of genome of someone with Trisomy 21.

Sources:
http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

Down Syndrome Awareness Month Day 2: My thoughts on A&E's Born This Way

Someone recently asked me how I feel about the portrayal of Down syndrome on tv shows, specifically reality shows. Born This Way on A&E is the main show I am familiar with, though I know both Glee and American Horror Story have included characters with DS in their storylines. 

I personally love that there is show like Born This Way currently on television. It is breaking down barriers and spreading awareness with each new episode. Obviously other people agree that it is worthwhile television since it recently won the Emmy for Best Unstructured Reality Show!

Jackson was over a year old at the time of the show's premiere, but many emotions from our birth diagnosis were still pretty raw. I'm not going to say the show was always easy to watch at first. When the parents on the show spoke about their experiences, both positive and negative, much of what they said hit home, and lots of tears flowed. I know other parents with children with DS "get it," but we aren't sure others outside of our "club" understand. To see these thoughts and feelings so many of us have put out there publicly for the world to see? That was quite a powerful moment for me.  

I enjoy how Born This Way shows how the participants struggle with every day issues- friendships, romantic relationships, independence, jobs, etc., and just like any other reality tv show, there's plenty of drama! It truly epitomizes the message of people with DS being more alike than different.

The show did receive some flack within the DS community at first because there were complaints that they only included the "highest functioning" individuals with DS. However, at a recent retreat I attended, Sandra McElwee, Sean's mom on the show, spoke to this criticism. She said that the individuals on the show are not the "highest functioning" or "the cream of the crop"; they are individuals who benefited from inclusive education where they learned socially-appropriate and age-appropriate behavior and skills. I will write more about inclusion on another day, but it is not all about having my child learn the same curriculum as other children!  

Another point Sandra made was that information about DS has historically focused on what individuals cannot do, but Born This Way does an incredible job of flipping the script and showing what they CAN do. As a popular tag line from the show says, "don't limit us."

Just as the Changing the Face of Beauty campaign is truly making a difference in the kinds of models we see included in advertising, I hope we continue to see more shows with differently-abled characters included in their plots and differently-abled actors hired to portray them. The world is such a diverse place, and the entertainment industry is finally starting to show all levels of diversity.

**While the second season of Born This Way just wrapped up, you can catch up on all the episodes here: http://www.aetv.com/shows/born-this-way**

Happy Down Syndrome Awareness and Advocacy Month!

Today is the first day of October, the month designated as Down Syndrome Awareness and Advocacy Month. My goal is to write a post every day this month to participate in the 31 for 21 blog challenge.

My first post comes from something I wrote two years ago. On the first day of October in 2014, I finally told the world through a Facebook post that Jackson has Down syndrome. Family and most close friends already knew, but I just hadn't been ready to publicly announce it until then. I should have known how amazingly supportive my friends in facebook-land would be, but it was a step I had to make when I was ready. 

Now I love sharing our journey! Some may say I share a little too much! :) However, I believe that doing so will help people see how normal our lives truly are, extra chromosome or not. 

October 1, 2014
"Six and a half months ago, our son Jackson surprised us by entering this world a month early. Soon after his birth, we learned Jackson had another surprise for us: he was born with a little something extra- a third 21st chromosome, commonly known as Down syndrome or Trisomy 21.

I wish I could say we handled that surprise well, but I have since learned that our reaction, our grief, was completely normal. Now I look back at my fears and the dark places I visited and wish I could tell myself that the sunshine Jackson will bring into this world will crush those fears and banish those dark places, but I had to travel my road of healing in my own time. I'm going to borrow parts of a quote from another mom's blog that speaks perfectly to this time: Our son was Jackson long before we met him. While we struggled and grieved and mourned and plugged along, he was still Jackson. He was just waiting for us to meet him.

And I am so glad that we did meet him!  Our son amazes me every day. Jeremy and I will not let a diagnosis define him or set limitations on his life. While his diagnosis initially rocked our world, our son is rockin' his extra chromosome, and we can't wait to see what the future holds for him."

Down Syndrome Awareness Month- Day 1

To the Mothers of Special Needs Moms on Mother's Day

Before I had our son Jackson, I don't think I can say I understood the power of a mother's love- that fierce protectiveness and unfathomable love that comes when you give birth to a child.

NOW I know. And because of this, mothers who have watched their daughters become mothers of a child with special needs, I dedicate this to you. 

NOW I understand that you would have given anything to take your daughter's pain away when she received a life-changing diagnosis. When you listened to her cry and say that it felt like her heart was literally breaking, I am beginning to understand that a part of you was being ripped apart as well because this was a pain you could not take away. When we were young, you could kiss our boo-boos away. When a boy broke our heart, you could comfort us and offer us ice cream. But this? This was a deeper cut. One that was invisible, caused guilt, and could not be easily stitched with kisses and ice cream.

Thank you for listening. Thank you for crying with us. Thank you for not making us feel like horrible mothers when we said we weren't sure we could do it- "it" being being the kind of mothers these amazing children need.

Yes, there were missteps along the way as both parties learned to navigate a new terrain, but each of these missteps helped us find our footing as we continue to travel along the sometimes bumpy, sometimes scary, but always rewarding road we now travel.

For it took some time for us daughters to realize that, as alone as we felt when we first received the diagnosis, our moms were walking right there beside us, waiting for us to notice and be ready to accept their help and support. 

Thank you for continuing to be our cheerleaders when we feel we aren't doing enough. Thank you for not thinking we are too wacky when we pursue alternative therapies and seek the guidance of a variety of types of doctors and specialists from around the country. Most of all, thank you for loving our children, your grandchildren. We may have been worried how our children would be accepted, and you were often the first example we saw of true acceptance, loving our children unconditionally.

We have learned many things about ourselves since the birth of our children, but we also have come to know that we still need our moms to kiss the metaphorical boo-boos that come along with this journey. Your support and encouragement deserve so much more than these words.

So, today on Mother's Day and every day, thank you. If WE were meant to be our children's mothers, YOU were the ones who raised us to be the kind of women who would rise to the challenges and revel in the joys of this crazy adventure of parenting a child with special needs. 

Happy Mother's Day to best the Nana around!

Ups and Downs of Social Media: Part 1

I will be forever grateful for what Social Media has done for me and for Jackson since his diagnosis.  I have found places for comfort and camaraderie with other moms of children with DS. Some of these moms have already become some of my dearest friends.  I have found places where moms share information that helps us keep Jackson relatively healthy and puts us in contact with doctors from across the country who have become part of Jackson's awesome medical team. I did not even know Facebook groups existed before Jackson was born, and now they are a daily source of encouragement and new ideas.

But with the amazing highs from this connectivity also come some pretty horrible lows.  Being a part of a community of people whose children are considered "medically fragile" can also be devastating on a rather regular basis.

Today I checked my Facebook newsfeed as I typically do while Jackson naps, and two posts jumped out at me instantly and immediately hurt my heart. One family's child with DS was rushed to the hospital and diagnosed with leukemia, and in Australia, a family lost their beautiful four-year-old son after weeks of fighting an infection. He also had Down syndrome.

Most times, I feel so strengthened and empowered by what I see and learn through my Down syndrome-related groups and friends. But then a day like this happens. I sit and look at these precious children with tears streaming down my face, and I wonder if my heart can handle more stories like this. I do not know these families, but I share in their fear and their pain and their grief.

I would like to say that days like today are rare, but unfortunately, they are not.  I haven't kept track, but it seems like it is about every other week when I read of another child with Down syndrome who is fighting for his or her life.  This constant barrage of grief and fear takes its toll, and though we have been lucky with Jackson's health so far, I feel I am waiting for the other shoe to drop. I know all parents worry about their children, but constantly seeing real-life examples of life-changing/ending illnesses that happen to other children with the same diagnosis as my child takes it to a different level.

So why do I do it? Why do I continue to view my Facebook newsfeed day after day?  Because I know that I can go into one of my groups and express my fears, and other moms will acknowledge them and truly understand how I feel. These mothers are "my people, my tribe"; they get "it" like few others do. So when one of our children faces something that keeps us all up at night, we rally in support because we know they would do the same for us. When one of our families suffers every parent's worst nightmare, we reach out across states, countries, oceans, and digital highways to express our grief. It is not the kind of rallying we like to do, but we know we must. Because when we look at the pictures of these sweet angels, we see echoes of our own children staring back at us through those beautiful almond-shaped eyes.

I have not experienced that kind of community many times before Jackson entered this world.  Ironically enough, these are the exact connections I thought would not happen after we received Jackson's diagnosis. I feared an extra chromosome would ostracize us, but instead it has ushered in a completely different level of understanding and relationships. And without social media, it would have taken me much longer to reach out, get connected, and find my fellow warrior moms.  So I will take the heartache and fear because the ups of this type of social media connection really do outweigh the downs.

If you haven't connected yet with other moms of children with Down syndrome, check out 

Down Syndrome Diagnosis Network.