Rare Disease Day 2020

This Saturday is Rare Disease Day.  A day that I hadn’t even thought about until 3  1/2 years ago, when living with a rare disease became a part of our every day life.  Our daughter, Tessa, was born with CLOVES Syndrome- a rare overgrowth syndrome that affects about 500 people worldwide. Our journey with a rare disease began in February 2016, when my 20 week ultrasound revealed a growth on the baby’s side and leg.  We were sent to the University of Iowa Hospitals and Clinics for further testing.  The high risk OB doctors were not sure what our baby had, but automatically feared the worst and suggested (several times) to abort.  Each doctor worried about a different problem, and truly believed she wasn’t going to make it.

I was aware of this, but I also knew that God had created this baby. If He wanted to take her home to heaven, He would do it in His own time- that was not my choice to make.  So we prayed for strength and peace for the very uncertain future, and fully relied on His plan for our little baby girl’s life.

  

The next three years were going to be some of the most challenging
days of my life. There have been many days filled with uncertainty, discouragement, anxiousness, and fear.

But there have also been countless days of joy, answered prayers, encouragement, triumphs, and outpouring love.  We cannot imagine our lives without Tessa, and will forever be thankful for the lessons her life has taught us. We still do not know what her future holds, and so we continue to pray and to trust God with her life.

When Tessa was 2 weeks old, we took her to Mayo Clinic in Rochester to visit the Vascular Anomalies Clinic.  She is under the care of a multidisciplinary team there, and was diagnosed with CLOVES Syndrome when she was 5 months old. Her first treatment was sclerotherapy on her abdomen when she was 7 months old. Since then she has had four more rounds of sclerotherapy on her abdomen and groin area.  She also takes a small dose of medication, called Sirolimus, two times daily.In 2018, Tessa had many GI complications, unexplained fevers, and severe anemia.  She lost a lot of weight, her stools were always very runny, and even the highest dose of iron supplements could not raise her hemoglobin to a safe range. She spent a week in the hospital and had an NG tube placed.  It was determined that her malformation was causing her GI problems, and her body is not able to absorb nutrients.The formula she was put on, Peptamen Jr, has done wonders for her.  Thankfully she loves the flavored versions and drinks them orally, so we were able to remove her NG tube after a week.  Her body has now absorbed all of the lymph fluid that was collecting in her abdomen, she is at a healthy weight, and her hemoglobin is in the normal range.  We don’t know if this will be something that she will need to take for the rest of her life, but we are so thankful for the ways in which it has helped her little body.Last summer, my mom and I attended the CLOVES family conference at Boston Children’s Hospital. It was an unforgettable experience getting to finally meet other kids and families living with this rare disease.  Unfortunately, many children with CLOVES have complications with digestion and nutrient absorption, but doctors have not been able to determine the cause for this.  We are just thankful that Tessa’s formula is working for her and pray that it continues to do so!

Living with a rare disease means that there is not a lot of information to prepare you for the future.  Each patient with CLOVES Syndrome is special and unique, and requires a day-by-day approach. We are so thankful for the helpful people we have met so far on our journey, and hope that we can be a help and encouragement to others as well.

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