Our daughter Remie is living with a RareDisease that we don’t have all the answers to yet. On Jan 11, 2019 we had a diagnosis of “microgastria limb reduction. We thought this was great because that ties all her abnormalities together. At the time of diagnosis we had 7 known abnormalities; since then we have found 4 more abnormalities. The new found abnormalities removed Remie from consideration for her first diagnosis. Now back to square one. She has a total 11 rare abnormalities, 10 of which internal, but that doesn’t stop her. She is such a happy, smart, amazing little girl.
Below is a little overview of what our journey has been like the past 17 months! There are several hospital stays, visits, appointments that are not included only because this would end up being a book!
Remie was born Jan 31, 2018. Her weight was normal 7 lbs. 15.5 oz. She was unexpectedly born with no left arm. Since then she has had a very complex medical journey. She has been sick most of her life. We have seen over 54 doctors, 12 of which we see regularly at Children’s Hospital. We’ve had 183 visits just to our primary care physician. We’ve traveled to three different states. Remie has had several tests and procedures that resulted with rare abnormalities. Eating and staying healthy has been a struggle since birth. Remie has only been able to drink 1/2 – 2 oz of formula or 2-3 bites when she consumes solids. She eats small meals frequently. In addition, Remie’s immune system doesn’t function properly, her blood shows abnormal results that are still a mystery.
Starting at five months old we got sent to a gastroenterologist for her formula intake, and within an hour of being there they put us into the hospital for failure to thrive. They ran several tests and completed a number of procedures. That is where they began finding some of her abnormalities. The first abnormality being her stomach and esophagus (her stomach is smaller and her esophagus is wide and floppy with abnormal motility). Their thought was let’s make her wait longer to eat and she will eat more, that was not the case. She still couldn’t take large volumes of formula. They decided to send us home with a feeding tube and dismissed the abnormalities they found. She continued to struggle to gain weight. At the age of one, she finally weighed 13 pounds. We’ve had multiple scopes, swallow studies, labs and still are searching for answers. Remie is now 17 months finally weighs 19 pounds and still only eats 1-2 oz per feeding. We will be traveling to Cincinnati in August for 11 days to start this process completely over with the hope we get some answers and a plan of care. There we will visit several departments and specialists, Neuro-gastroenterologist and Immune and Bone Marrow and hopefully Genetics!
September 18th, 2018, Remie was hospitalized with a 106 fever with no other symptoms, at that time they did an ultrasound of her kidneys. As a result, we found out she was missing a right kidney. In January of 2019, she was diagnosed with stage 2 chronic kidney disease in her left kidney. Remie’s fevers continued 1-2 times a month from September 2018 to February 2019. The fevers lasted 4-7 days at a time.
Rewind back to November 22, 2018 an MRI of her brain and spine were completed and Remie was diagnosed with a tethered cord and syringomyelia (fluid filled cavities throughout her spine) this has affected her walking and the use of her right leg. On May 29, 2019, Remie underwent surgery as a treatment. Surgery was successful and is doing great! Her walking has improved and her right leg is getting better. In a year, we will have another MRI to monitor the syrinx in her spine.
Remie has had several bacterial infections, respiratory infections, and viruses. She gets extremely sick and runs dangerously high fevers. She catches everything! Since November of 2019, she has been completely removed from daycare as a result of her medical needs. On February 8, 2019, we met with an Immunologist for her recurrent fevers and illnesses. Results from this appointment are still unclear. In June 2019, her labs resulted with the diagnosis of an immune deficiency. Her immune system response is still unknown, her platelets continue to be high, her t-cell function doesn’t work properly, and her labs continue to be abnormal. In addition, Remie’s spleen is also small and doesn’t function properly. As a result, she has to get extra immunizations and be on a prophylactic to help prevent infections. Unfortunately, Remie’s body isn’t responding well to medications so she hasn’t been able to start these treatments.
On April 10, 2019, Remie had several procedures. As a result , she was diagnosed with a laryngeal cleft (an abnormality between her voice box and esophagus), and subglotic stenosis (narrowing of her windpipe).
Even though we are still searching for answers, we are thankful and blessed to have such a beautiful, sassy baby girl. Our life has become a daily experiment, with several hypotheses, new variables, and we continue to work toward finding a conclusion. We won’t stop looking for answers until we find them! We are Remie Strong! #RareDisease #syringomyelia #microgastrialimbreduction