When I started Project 12-04, my hope was to expand our world and the worlds of children and families like us. Our connection with this sweet family is because of this outreach 12-04 has provided- this alone is so exciting for us!! The heartwarming take on the Tromberg's journey with Mathilda will leave you inspired all while Faith takes us back to those days in the beginning and how far they have come.
Waltzing through life with Mathilda "Tilly"
Hey! Welcome to Minnesota - the Land of 10,000 Lakes, LUND Boats, Headwaters of the Mississippi River, ohhh, and then there's ME - a very unique and rare little girl. I live with my mom (Faith), dad (Erik), and my two little brothers (Drake (2) & Gentry (6mon)). I want to share my story with you! Come on and waltz with me!!
On January 25th, 2018, I entered this world. My parents tell me that on that day, a love that’s almost indescribable grew in their hearts that they’ve never once felt before. Their love for me goes so deep. Leading up to my birth everything seemed to be so “normal” or so my parents and my mom’s prenatal doctor thought. I would use my mom’s guts like a punching bag and do fantastic somersaults all while being cooped up inside my mom for 9 months. When my mom would go in for her prenatal appointments I could hear the doctor say things like “everything seems to be going well” (thumbs up) or “heart rate is right where we want it”, but then I started hearing things around 33 weeks old like “hmm, momma you’re measuring about a week behind” and then at 36 weeks 6 days my mom went in for a growth ultrasound where the ultrasound tech discovered that I was IUGR (intrauterine growth restriction) which is described by Children’s Minnesota as, “a condition in which the unborn baby is smaller than expected for his or her gestational age, or the number of weeks that the baby has been in the uterus.” Also noted during that ultrasound was oligohydramnios (very low amniotic fluid); which during pregnancy can be a very serious situation. So my mom’s doctor was immediately called and it was decided that I needed to be born.
The induction process started the evening of January 24th. The next morning my mom’s doctor came back and broke her water. After many pushes for my mom, I was born that afternoon weighing 4 pounds 8 ounces. Myself and placenta came out all together on that final push. My dad said it was like the doctor was catching a football! Pretty cool arrival, huh!? It was then very noticeable that the umbilical cord attaching me to the placenta had measured right around 12 inches; which normally umbilical cords are around 21-23 inches. I didn’t cry much and needed some stimulation to get me to start crying while on my mom’s chest. I was allowed 15 minutes to chill on my mom’s chest and then it was decided that I needed to be placed under warming lights to keep my body temperature up since I was a tiny little peanut. Nothing too major was happening; pretty standard procedure for a new baby's arrival, I was checked over by my doctor and nurses but as the evening and night went on my blood sugar kept dropping. I wasn’t latching or feeding well. My mom says that to this day while she lied awake staring at me on that first night (when she should have been sleeping); she had this sense of knowing that something just wasn’t “right”.
The next day, the same deal – my parents loved on me, but my blood sugar was continuously low and I wasn’t feeding well. My blood sugar finally resolved on my third day of life. My mom had been discharged on the 26th of January; however, I still hadn’t been discharged. My doctor and my parents were in debate about sending me to the NICU in Fargo, North Dakota. They were doing everything to keep me from being sent there. I started to “eat” or so it seemed from a bottle as nursing just wasn’t my jam. I had failed my newborn hearing screen; however, I was finally discharged on the evening of the 28th of January. A good old fashion Minnesota snow storm was supposed to be brewing up the next day and my parents were anxious to get home with me. I was on the couch snuggling my momma the next day, staying all nice and warm. My parents had to feed me every two hours! My mom had to start a journal and jot down when I was feed, how many milliliters I would take during that feeding (we’re talking 5-15mls) and if I had a wet or poopy diaper. The second day I was home I was becoming very lethargic, not waking for feedings and my skin looked like the color of a carrot. Once again that sense of knowing something just isn’t “right” filled my mom’s mind. It was then the afternoon and my mom was trying to feed me with a syringe as I wasn’t sucking on the nipple of the bottle. My dad got home from work at 5:30 pm and my mom was a sobbing mess. She looked at my dad and said “we need to take Mathilda in. She isn’t waking for feedings and she hasn’t had any wet or poopy diapers today.” So they took me into the ER as the clinic was no longer open. My parents were scared; they didn’t know what to expect next. Labs were drawn and it was discovered that my bilirubin level was 22.7 mg/dL on day six of life.
The standard level on day six of life should be between 0.6 - 11.1 mg/dL. The test results were marked with HH, above upper panic limits, and the emergency room doctor didn’t feel comfortable treating me at our little hospital.
He gave my parents’ permission to drive me in our own vehicle to Sanford Health, Fargo where they had a room ready to treat me as soon as my parents arrived. High levels of bilirubin are very dangerous and harmful to someone of my size. It could have placed me at sever risk of brain damage. My parents arrived at the “big hospital” with me around midnight and phototherapy treatment was started immediately.
During my two-day treatment at the “big hospital” I had many professionals including a geneticist evaluate me. The geneticist pointed out some rather unique findings about me that my parents hadn’t even noticed. She noted a mildly downward slant in the area between the opening of my eyelids (palpebral fissures). She also noted that my ears are low-set, with over-folded helices – which just means that near the tips of my ears the skin is folded over more than normal. Oh, and she did mention this big long word called arachnodactyly, I’ll save you the googling – I have long slender fingers…hmm, maybe piano fingers one day?! The geneticist went on to consult with my parents about genetic testing. She advised that it might be in their best interest to go forth with genetic testing as it would either rule out many things or it would diagnose and give us answers if there happened to be anything abnormal. Since I was still so tiny the team of doctors had to meet and give the green light for the large blood draw. They knew they had to figure out how much blood was safe to take from my teeny, tiny body. After the meeting they came to my room and took me down to a special room with big bright lights, my mom got to go with me…and as far as my dad, well he decided it was in his best interest to stay back in my room because he doesn’t do well with blood draws. I had one of the best, most skilled pediatric phlebotomists find a tiny vein in the top of my hand to withdraw the blood for the genetic testing. After that blood draw I was finally given the go ahead to go home, my parents were ecstatic. I was eating better and my bilirubin had dropped significantly. My parents packed up our belongings and we were headed home.
We then began waiting to hear the results from the genetic testing. No news is good news right?? Or so my mom thought, until 24 days later on Monday, February 26th, 2018, at around 11 am, I (one day over being one month old) was skin to skin with my mom while lying on our living room couch. My mom’s phone rang; it was a 701 number. She debated on answering it as we were so cozy; however, she did. She cheerfully said, "Hello!" then the caller on the other end was silent for a few seconds and then proceeded to ask if she was Mathilda's mother. My mom replied with a strong, definite "YES, this is!", as she was so proud to be a mom for the first time! Then the caller went on to say she was so-and-so calling from Sanford Health Genetics in Fargo. My mother’s heart skipped a beat or a few more, I could feel it. She didn't know how to respond, but she simply said "Okay." and then the moment my mom will never forget, the caller spoke a few words in what my mom wished was just a different language. Sadly, it wasn’t a foreign language. The caller said, "There has been a change on Mathilda's chromosome one." My mom quickly chimed in and asked what she meant. She proceeded to tell my mom that she couldn't give out any other information over the phone, but that the Genetics team would really like to see us first thing in the morning. Stunned, my mom replied with a soft, worried, "okay," and hung up the phone. The lump in my mom’s throat began to grow as she was confused and so worried. My mom remembers thinking; how can this be??...this little girl is perfect in every way…there can’t be anything wrong. Instead of my mother calling my dad, she immediately jumped to Google. (Terrible idea...as she wasn't given much of any information.) So there my mom is, "googling" away. She then started to read some not so "ideal" things and wept and hugged me ever so tightly. She tried to calm herself and clear the growing lump in her throat so she could call my dad. After dialing his number and him answering, she realized that she couldn't speak. My mother couldn't get full sentences out to my dad. Within 25 minutes my dad was home. My mom laid me down and her and my dad stood in our kitchen hugging each other while sobbing. My parents tell me that they would then go on to experience the longest night they’ve ever experienced while waiting for an appointment. The drive to Fargo was quiet and seemed to never end. My parents asked my grandma Cheri to please come along as they were terrified and wanted another set of ears to listen to what they were about to get told. My grandma Cheri has 33+ years’ experience in elementary special education, so to say the least she knows her stuff in that department. This wasn't how my parents had “written” the beginning of their parenting journey; however, this is exactly how our Heavenly Father decided it was meant to be.
You know how I mentioned earlier that God created me to be unique and rare? Hence, check out my t-shirt my mom made for me! Unique - wouldn't you say?
I was born with a very rare chromosome disorder. One that is so rare that I'm the only documented case in the world with my chromosome deletion breaking points (1p22.2 through 1p31.3). The professionals tell me that my deleted interval within chromosome one is missing 127 genes. What does that mean, you ask? Each chromosome contains hundreds to thousands of genes, which carry the instructions for making proteins. So that's 127 genes that are not carrying instructions for making proteins my body needs for me to develop, grow and function like what they (the professionals) call a "typical" human. The geneticist went on to tell my parents that I would encounter many challenges along my journey here on earth. Even though there isn't much information or research on my deletion, they tell my parents that I could face many developmental and learning delays. They then went on to say that I may not walk or talk; however, if I do it may be at a later age in life than the average toddler. God created me knowing I would accomplish many milestones that, research states, might be impossible for me. As my mom reflects back on the beginning days of hearing this news about me, she can joyfully say today how proud she and my dad are of me and all my accomplishments and how thrilled they are to watch me be so determined. I will succeed. I will always be the little girl my parents fell so deeply in love with the moment we laid eyes on me. A genetic diagnosis doesn't change that strong love.
How did this happen, you ask? My deletion is de novo, meaning 'new'. De novo 1p deletions are caused by a sporadic mistake that is thought to occur when my parents’ sperm and egg cells met after conception. We know my deletion is de novo because my parents had genetic blood work done and neither of them are missing any part of chromosome one. Don't get me wrong though, I'm pretty flippin' AMAZING if you ask my friends and family‼ I've started 3's preschool this fall and I'm sooooo excited about it, it’s so fun- see I really am no different. I go to school, I have a family, I love the big guy upstairs, and you know that thing that lives inside my body that goes thump thump, thump thump? Yeah, my heart - see - I have one and you have one - we're no different. Inside my heart lives God, and he's helping me perform things these so called professionals told my parents I may never do - like walk, run, or even sit unsupported. I took my first steps unassisted September 2020, when I was about 2.5 years old. Many thanks to early intervention, which I started when I was two months old! I usually use signs with my hands to communicate; however, I do have a few words that I can speak. We’re working really hard on communicational speech – that’s my next BIG goal to crush! Because of God and the outpouring continued prayers from friends, family and people all around the world - I'm so strong. I'm THRIVING at my own pace!
Back in 2018 when there were so many unknowns about my deletion - and there are still so many unknowns, don’t get me wrong – I was blessed with a very special gift. My mom’s neighbor while she was growing up, Romeo “Romie” Goche, felt called to provide my family and I with something so amazing.
To the left, that’s me with Romie. Sadly, he has since been called home to spend eternal life with our Savior. The other two photos are of the Superior General’s Chapel within Maryknoll Fathers and Brothers, in Maryknoll, New York. Maryknoll Fathers and Brothers is a “Catholic Foreign Mission Society of America that is dedicated to spreading the Good News of Jesus Christ through love and hope by serving those most in need across the world” (www.maryknollsociety.org). Within this chapel, Romie sponsored a plaque in honor of me to be displayed. My plaque is placed underneath one of the most revered works of art in all of Maryknoll. Daily Mass and Rosary are said each day within this chapel by retired Priests and Brothers. I am in the best hands and prayed for daily. Thanks be to God!
I'm also a huge fan of the charity called Unique – Understanding Rare Chromosomes and Gene Disorders (www.rarechromo.org). Unique provides support, information and networking to families affected by rare chromosome and gene disorders. When I was one month old they provided my parents with some research that really only meant one thing: I WAS KNIT, BY GOD, FOR MY FAMILY! or that's at least what my parents heard when the geneticist read and reviewed the research with them. I'm exactly how God created me to be! Not to toot my own horn, but I was once a COVERGIRL – check it out!! That’s me featured on the front cover of the Spring 2020 Unique magazine. Cute!, huh?
Thanks for taking the time to read my story and for getting to know me. I'm gonna be just fine 'cause I know exactly who I am!
"You formed my inmost being;
you knit me in my mother's womb.
I praise you, so wonderfully you made me;
wonderful are your works!
My very self you knew;
my bones were not hidden from you,
When I was being made in secret,
fashioned as in the depths of the earth.
Your eyes foresaw my actions;
in your book all are written down;
my days were shaped, before one came to be."
- Psalm 139:13-16
Again, thank you for sharing my story with your friends and family. I am now going to pass the mic to my mom!
Mathilda “Tilly” (1p22.2 - 1p31.3)
As Mathilda’s mom I can truly say she is a unique individual. Through the countless hours of early intervention services and physical therapy, she has become such a determined and eager little girl ready to continue to crush goals. We have loved on her for three and a half years and we can’t wait to love on her for many more blessed years. She is our pride and joy. Erik and I pray we can provide her with the best life possible. We will always love our chromo cutie for who she is. It’s an honor to be her parents. Thank you for taking the time to read Mathilda’s story.
– Faith Tumberg