This morning I opened my email to find all of the registration stuff for The conference about Mariska's genetic disorder. And I just started to cry. I have always kept a smile well that's OK, its just Mariska its not a big deal things could be a lot worse. It was a friend of mine who said something like its OK to be sad that she is different. Yes it could be a lot worse but its OK to grieve. Well that sad hit me hard. Really really hard this morning.
Mariska has always been my Mariska but when we recently had our pictures taken one of the pictures, made me cry because I felt like her disorder was screaming at me and I just wanted it to go away. Please don't get me wrong, I love every inch of her, from her little soft curls, to her misshapen little toes but lately her symptoms seems to be showing more and more and it breaks my heart. She feels she is different and as her mom I want her to feel normal and to fit in, in all the ways that I never did. She is different she has Ectodermal Dysplacia : TRPS syndrome.
I remember when she was born oh goodness the girl was born with a nose. It was different, it was rounder than usual, it was more pronounced. It took me a few days and I said to my mom look at her little nose. She grew into that little nose and it became all her own. We always called it her beak , it was just something special about her. I can remember her being a little older and we would ask her where is your beak, that was just her and we loved that little nose. I remember her first pediatrician asking me "What happened to her nose ?" I was a little in shock, like how dare her ask me that that's her little nose and I LOVE it! I think I knew from early on that there was something different. The poor thing was bald as anything, and everyone always called her a boy no matter how much pink the poor girl was wearing. She looked a little different, I wasn't sure what it was exactly but she was different. She was later doing everything and her Dr's said well you are just comparing them because they are twins she is fine. But that was not the case, they were always Vincent and Mariska and so different in every way I was not at all comparing them. She held her head up way later, she didn't sit up on her own for a long time so many things were different. Her teeth came in so very late, She always struggled with congestion, oh the poor thing had such trouble breathing sometimes, ex specially at night. Each year at her check up they would say don't worry about it she is fine, she just is developing a little later. I had that gut feeling, something wasn't right. And her hair, it just wouldn't grow ! People told me to use horse shampoo and tomato juice, they kept telling me oh it will grow give it a year.... I gave it one ...two....three...four....five still no hair.
Finally the summer before second grade, they give us a referral to the Dermatologist. I refused to take their we'll wait and see attitude anymore. I needed some answers. If they told me nope that is Just Mariska fine then tell me but I needed to know for sure. With-in ten minutes of seeing her they were using big long words and showing me pictures that I really didn't want to see. I was scared and I didn't know what that meant for my sweet amazing, baby girl. They took hair samples sent her for blood work . I was in a little bit of a panic honestly, the Nurse practitioner walked out saying she would be right back and walked in with two other Dr's they were talking touching every inch of her little face and head and then they walked out once again saying they would be right back. I am trying to smile for Mariska who doesn't have a clue why these people are poking and prodding her. Then one of them comes back in with this picture and says well this is what we think she has and writes it down on a piece of paper. WOW, I had some answers but those answers only brought more questions. What is this ? What does it mean ? What can I do ? Did I cause this ? We are sent away with two pages of information since little is known about it and an appointment to see a geneticist, that we will have to wait six months for.
It was not life threatening so I was relieved but how will this affect her life, how do we need to do things different, what does this mean for my Mariska Anne ? I did so much research over the next few months and finding out all that I could. There is not a lot known and it affects each individual child so differently, that its a kind of wait and see.
The geneticist also had little information. They said yes we think this is the type of Ectodermal Dysplacia that she has but gave me little information. They said that if I needed anything to make another appointment. Since hers is not very severe there are few outward signs, she doesn't sweat much, her nose is different, her eyes are closer together, her little toes are different, I could go on and on but there are lots of little things that do affect her day to day. I am sad. We do not know where it came from. I still wonder if it was something that I did, maybe was it was because of how she was conceived no answers its just something that happens. So we go on, we use her cooling vest for super hot days, we have gotten her a wig that should be in any day, we need to find out more about her little bones that ache , her little fingers that bother her, her skin rashes that she gets but we are moving forward. I am so looking forward to this conference and maybe finding some more answers but really Nothing will change I have more information that I will be grateful for. But Mariska will always be my sweet Mariska.
In the good things that this isn't as bad as a lot of cases I am sad for her sometimes that she is different, as much as I feel for her she feels it too. And it breaks my heart. She smiles through it all but her little heart gets sad too. SO today I am sad that she has TRPS, I am sad that she doesn't have hair, and that she aches, and that she is different. I am sad she will have to have genetic testing when she decided to have children of her own. So much to think about so many questions to ask ?? So I will write them all down and hopefully take them to the conference.
BUT.......Today I am just sad that this is something she will have to deal with. I am just so sad for her. And I pray that I can nurture her spirit and help her see that beauty that she has, it just glows for everyone to see. Her little heart is something incredible, she shows such strength each and every day. Oh I love that sweet girl with all that I am, and I hope she can see just how special that she is for this day and every day of her life.
I love you more my amazing kind daughter, we will make it through it all. I promise.
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