Leilani’s Diagnosis – our reactions

Leilani’s story/diagnosis is so different than most. Most people find out if their child has Down syndrome either while they are pregnant, or the day they are born (or shortly thereafter). We had almost a full year of not knowing. And let me tell you, it was such a blessing in disguise. After hearing the initial diagnosis and trying to process it, we hit acceptance rather quickly. My husband put it plain and simple and I couldn’t have said it better myself. He said to me, “You know what? I’m kind of glad it took them almost a year to figure this out. Because we got almost an entire year with just our daughter, not our daughter with Down syndrome.” Because we got almost an entire year with her, we didn’t treat her any differently than we would have any other child. We had no expectations since we were new parents. And there were no umbrellas of diagnosis doom hanging over our heads. I think this is why we moved into acceptance so quickly. This was our daughter Leilani – our beautiful, smart, spunky Leilani! This diagnosis didn’t change who she was and who we had fallen in love with and we weren’t going to let it either.

I have an amazing online mommy group that was so supportive during this time. They were some of the first ones to know because it was easier to talk to them about it because they were inviting and accepting and also…because I didn’t have to look them in the face when I told them. After the initial diagnosis and then losing my job – they all rallied together and sent us some amazing packages showing their love and support. I was overwhelmed by their kindness and generosity! It was absolutely amazing and exactly what I needed. And I can’t thank them enough! So to the ABSG – you know who you are – thank you again! You’ll never know how much you all helped me during this time! Love to you all!

Kevin and I started researching as much as we could. We were given some sites to look at by Leilani’s doctor and told to make an appointment with the coordinator at the Down Syndrome Clinic (part of Children’s Hospital). It was scary to think about telling our family and friends at this point. Would they look at us differently? Would they look at Leilani differently? Would they be mean to her? All I kept thinking about was her future. What did this mean for her? So 11 days after we got the results, we met with Terri Couwenhoven, the coordinator at the Down Syndrome Clinic. She was so amazing! She has an adult daughter that has Down syndrome and had so much information to talk to us about. We talked for hours and to be honest, I could have talked to her for even longer.

The following Monday was Leilani’s 12 month check up with her pediatrician. Her doctor looked at us and apologized for not catching the Down syndrome and seriously teared up because she felt so bad. She thought we were going to be upset with her? She saw her SEVERAL times throughout that year – and not once did she think that Leilani had Down syndrome. She had hit every single developmental milestone on time and she was a thriving little girl. Even when we got her tested, her doctor said, if anything, it would most likely be Mosaic Down syndrome if she did have Down syndrome at all.

Mosaic Down syndrome is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21.

Mosaic Down syndrome is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome.  Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome.

It was just as upsetting to her when we found out the results as it was to us. She was shocked. And to think that she thought we would be upset with her! We were so happy that she cared as much as she did to help us in every way possible. She talked to us at night when her office was closed, she sent us emails with pamphlets and all the information you could think of. It was so nice to know that she cared. There are too many doctors out there that just treat you like a number, not enough like her who care about the actual people.

Our follow up was to get Leilani’s blood drawn, again. But this time we were looking at her levels for her Thyroid. This is something we will have to monitor for the rest of her life, as this is common in people with Down syndrome. Her numbers came back and everything looked great! We would be good for about 6 months, and then we are to do another test and then we would switch to a yearly check.

We then had our follow up appointment with the ENT doctor to make sure everything was ok with Leilani’s ears. I had mixed feelings about seeing the doctor that was so rude about Leilani. He assumed Leilani had Down syndrome just by looking at her, which is such an awful thing in itself. But then he ended up being correct. That was the worst part. I didn’t know how to deal with that. He never said anything to us about the Down syndrome. Just told us to keep an eye on her and watch for ear infections, especially once fall came around and kids started going back to school and spreading germs. I’m glad I got to see him in person at least. But we’ll be going to a different ENT doctor from now on.

The running theme here is that every ‘side effect’ or ‘condition’ that normally goes along with Down syndrome was coming back negative for Leilani. Our next doctor appointment was a pediatric optometrist to check her eyes. Again, she passed with flying colors. What’s funny is that every doctor and nurse that meets Leilani instantly falls in love with her. She’s just got that way about her. And everyone that we’ve told her story to is absolutely amazed by her. She is happy, healthy and has ZERO health conditions. Do you know how crazy that is?? We also met with the Birth to Three program for our area. Again, at every evaluation, every therapist/coordinator fell in love with her and they were blown away with how strong she is and how smart she is. When she was first evaluated, she was ahead of the game in speech, and she was about a month or two behind in fine motor skills. Which, for her age, really doesn’t mean anything. We do however meet once a month with our educator and last month she told me that the last 5-10 minutes of her time, she normally goes over what the parents could do to help their kid. She told me that she had nothing to add because Kevin and I were doing such a great job with her. As a parent, you try so hard to do your best, at least we do, and it was so nice to hear from someone that we were doing a good job.

We also applied for Medicaid for Leilani and SSI. Something that we were told to do since she had a disability. The funny thing is, this part became more frustrating than anything else. We applied for Medicaid through the state and were quickly denied. We made too much money. We were literally living on 1 income at the point of the application even. So we moved on to the federal Medicaid. And by “we” I mean my husband. I was so frustrated with everything that I couldn’t even look at it anymore. We got denied for that too. We made too much money. After filling out the SSI paperwork, I had a phone interview with them going over our assets/debts/etc. I was told that we had too much money in our savings account…by about $119 I think it was. Ugh…so I transferred money around, paid some things off and talked to them again. This time, we made too much money. So we were denied. Basically, to get the insurance to help my baby and to get any SSI to help pay off doctor bills and put money away for her future, I would have had to divorce my husband on paper and move upstairs into the upper unit of our house and not have a job. I hate the system sometimes. At least when she is 18 years old, she will qualify for these things. We’ll see if Social Security is even around then – but hey, there is hope.

So that brings me to my initial blog post of Leilani’s Birth Story. I had written that a little while after finding out and kept adding things here and there but I kept it as a draft because I couldn’t bring myself to hit Publish. I knew the second that I shared that she had Down syndrome – things would change. We had pretty good feedback from telling our families and friends, and some bad. Some of the bad feedback wasn’t said to our faces, but we heard it. That is when I realized just how ignorant some people were about Down syndrome. Which kept bringing me back to Leilani’s story because it was so different. I learned very quickly that the second you said that your child has Down syndrome, people assumed things about her and categorized her differently. People that had seen Leilani before, that had spent time with her – changed their minds. That is what scared me the most about publishing the blog post. To some people, the first thing they see in my child now would be Down syndrome. Who wants that for their child? But after talking to a genetic counselor and hearing her reaction to Leilani’s story, thinking back to all of the nurses/doctors/coordinators that loved her story so much because it’s actually a happy one, I was thinking more and more about posting it. And then I had a conversation with some co-workers of mine. And after telling them my reservations, one of them said to me, “Ya, but that should be why you post it!” And I never thought about it that way. So I decided to just do it. I also got a little push from the amazing owner of ezpz. She encouraged me to share Leilani’s story and was so supportive! Put that all together and that is what pushed me to hit the Publish button.

After I hit Publish, I went over to my Facebook page and shared the link on my blog page and also my personal page. I never expected the emotions that came with posting it. I was a mess of emotions – literally crying and not knowing why. It was such a relief and yet so scary all at the same time. Most of the feedback was great. Some of it upset me and even pissed me off to an extent. To those people that responded saying things like ‘I thought so’ or ‘I’ve always thought that about your kid’, etc. Please know that it is offensive to hear you say those things. Why? Because you’re basing what you THINK you know about my daughter based on her looks alone. What’s worse is that people that did say things like that have never met Leilani in person. Don’t pretend to know things about my kid. And if you didn’t have the nerve to say something before, don’t say it after there is a confirmed diagnosis…by a doctor. I was asked questions by people and that is ok! Because those people wanted to educate themselves. One of my close friends said she and her husband didn’t know much about DS but wanted to know more and so they researched as much as possible so that they could help in any way and so that they could understand better. THAT to me is a sign of an amazing friend.

We don’t know what Leilani’s future will look like. Why? Because every kid is different. Notice I didn’t say every kid with Down syndrome, I said every kid. Things come up that we can’t control and can’t expect whether your kid has Down syndrome or not. We as parents can only take one day at a time and love our kids for who they are.

I’ve also learned that no two cases of Down syndrome are the same and no parents of kids with Down syndrome can compare themselves to you. Each case is different. So please don’t tell me this or that will happen or my kid will definitely be in to this or that either. I’ve read that some people say ‘congrats’ after learning of a baby’s diagnosis. I find this odd. Please don’t congratulate me on my daughter having an extra chromosome. No one wants their kid to have Down syndrome. I think saying congrats on a beautiful baby is normal. And so maybe if you just had a baby and you found out the day they were born you say congrats to them. But in our case, I don’t find it normal.

I can’t relate to those that got the diagnosis or suspicion while they were pregnant. I can’t imagine how that must feel, wondering and worrying the whole pregnancy. I think that is why we didn’t get tested, because of the high false positives. And I can’t imagine what it feels like to go through the birthing process to hopefully hold and squeeze your healthy baby that you’ve learned to love, only to hear from a doctor or nurse that something is wrong. I can’t relate with people that have been through this. Talking to some people that have been through that, reading books from women that have been through that, has been heart wrenching. Which is another reason I am glad our situation happened the way that it did. I will always sympathize with those that have been through these difficult moments, but I just can’t relate. Just like they can’t relate to our situation and how we found out. None of us that birthed kids with Down syndrome chose this for our kids, but we accept it and love them for who they are no matter what. Because that’s what parents are supposed to do, right?

I would like to address something that is a huge misconception about people with DS. I’ve heard so many times that ‘they are always so happy’. Please stop saying this. My kid is just like every other kid in the fact that she has temper tantrums, she has good days and she has bad days. She may have a happy personality, but I don’t associate that with DS. I can honestly say that last week I sent a picture of Leilani having a meltdown to my husband while he was at his bowling league and said, “Those people that say ‘kids with DS are always happy’ can eat a &*^!.” No lie.

One more thing. It is not DOWNS. It is not DOWN’S. It is not DOWN’S SYNDROME. The preferred language is to use people first as well. So it is not a Down syndrome child, it is a child with Down syndrome. I have met some pretty amazing people through this journey. And one of those people I’ve never even ‘met’ in person. But she has been an amazing support system for me and I have learned so much from her. I was introduced to her through a mom in my mommy group. Her son Micah is 4 (and totally adorable!) and she has been one of the first people that I have messaged when I’m angry at something that I have heard. And she normally talks me down off the ledge and gives me perspective. (Thank you Stacie, you have saved me from screaming at people more than once!) And I completely trust her because I know she has been through a lot of this before. It helps that she and I are both pregnant and she understands my hormonal craziness too. Anyway, she created this informative photo of her cutie pie, explaining some things about Down syndrome, and I love it! October was Down Syndrome Awareness month, but I think every month should be Down Syndrome Awareness month.

Our biggest takeaway from this experience so far is just to take each day as it comes and not worry too much about what the future may or may not hold. We have learned a ton in the past few months and will continue to learn every day. And honestly, I wouldn’t change anything about this journey.