Our blind journey with Russell-Silver Syndrome began at our first ultrasound when we were given a new due date 6 weeks past my original date. I immediately said, that wasn’t possible. So I was sent to a specialist for IUGR. This doctor continued with several ultrasounds, and all along said everything would be fine, that she was growing with each interval between ultrasounds. I should have listened to my instincts, but I just wanted so much to believe this good news that everything would be fine.
Incidentally, we moved to Indiana four days before I gave birth! I had mistakenly believed that the dates were just off, and still had 6 weeks left. So a few minutes after the birth of our lovely daughter Dasia Rose at 4lbs 15oz 19in, the delivering doctor, (in my drug induced state), came over and told me the baby was showing several signs of Down Syndrome. Over the two-day hospital stay I had come to terms with this, and even believed it, since she didn’t look like the last two babies I had. Luckily there is testing for this, and two weeks later we were elated to learn she did not have Down Syndrome.
After taking her home, our first battle was she could not breast feed. This was a huge blow, but I never gave up! I continued pumping milk and trying for her to nurse, and it finally paid off after 3.5 long months! Three weeks after starting, she went from a very skinny baby to having rolls! She was now 8lbs at four months, and 10lbs at six months. Living in a small town, with a very old school doctor, we were told she was SGA, that this is just a delay in growth, that she would catch up. The only instruction given was to offer higher calorie foods. Luckily, we later moved to a bigger city which is when we were referred to First Steps of Indiana for physical therapy due to low muscle tone. This PT works with lots of kids with different disorders and she highly recommended a certain geneticist/developmental pediatrician. So, at the age of eighteen months, after looking her over for just a few minutes, he was able to diagnose her with Russell-Silver Syndrome. Stating in his report for diagnosis; IUGR, global delay, low weight, short stature, asymmetry of the legs, hypotonia, clynodactyly of the 5th fingers, blue sclera, and café au lait spots.
Thank goodness I found a support group, because I asked for copies of the information from the medical book that he had gone over with me, which was a big mistake! The part we didn’t go over together had a section “occasional abnormalities”, which listed cardiac defects, Wilm’s Tumor, and malignancy including four different medical names all ending in “oma.” AAHH!! Of course this took my focus off of everything else, and this section consumed my thoughts. I would hold this paperwork I was given, and just stare at it for about two weeks! About a month later, I got to talk to another Mom of an RSS child who was a service coordinator for the First Steps Program that we belong to. She quickly had me put my fears to rest about that; how this was simply not true. So, the scares I’ve had to compare the actual diagnosis with makes me really appreciate the issues that we do have!
Finding support from other parents, I believe, made it possible for Dasia to thrive the way she is now. After the difficulty of a worsening immune system function, learning the concerns of spilling ketones and developing hypoglycemia, we decided to have a g-tube placed. Three days before her 2nd birthday it was placed, and 3 months later today, she has gone from an inactive, quiet, and compliant little girl, to a child who voices her opinions, is energetic, and most of all, she is finally walking and talking since the g-tube! Her immune system has improved dramatically. I must say, while I am so in favor of this g-tube, I did suddenly have problems with her health while she was on a canned, all formula diet. In my opinion, this isn’t healthy for a two-year old child. It was like robbing Peter to pay Paul. So in addition to the formula, we give her blended mixtures of bananas with plain whole fat yogurt, and avocados with different juiced vegetables, right down the tube. Adding what is missing from an all formula diet, the good bacteria found in yogurt to protect the digestive tract from harmful bacteria, the enzymes from the veggies necessary for digestion and the absorption of nutrients. Not to mention all of the extra fiber the avocados and bananas add! So we are in a good place now. Dasia has been good about eating by mouth, although, it could never sustain her health. For so long, the doctors we saw, fostered the denial I had been in about there being a real condition, and special healthcare needs. We owe much of our success to the people who have been there to support us. Thank you to all! You know who you are!
Mom to Dasia RSS