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 My first pregnancy was a roller coaster ride from about 24 weeks on! It was at that time that I was diagnosed with pregnancy induced hypertension. I had an ultrasound a few days later and my world began to crumble. The baby had stopped growing and I was diagnosed with IUGR, oligohydramnios (low amniotic fluid), and an insufficient placenta. I returned for ultrasounds every 3 weeks and our baby had no measurable growth for over 4 weeks. During that time, I was admitted to the hospital for testing and bed rest. I had an amniocentesis, and although the results came back normal, they were inconclusive. After 4 agonizing hours the doctor was only able to extract 3ml of fluid instead of the required 15mls. Finally, from weeks 32-35 our baby grew. At 35 weeks my blood pressure rose precariously high and our baby’s weight was estimated at 3lbs. She was finally old enough and big enough to survive outside the womb. I was induced that day and delivered a perfect, though tiny 2lb 8oz baby girl we named Alyssa. After Alyssa was born, the doctors were still unable to explain what caused Alyssa’s severe IUGR. After 30 days in the NICU we were released with our 3lb 9oz healthy baby girl. For the first months we fed her high calorie formula every 2-3 hours and waited patiently for her to “catch up”. Though Alyssa never showed signs of reflux, she never took more than 3oz of formula at a time. After 9 months, our pediatrician referred us to the head of Growth and Development at the Kansas University Hospital and after only a very short meeting diagnosed Alyssa immediately with Russell Silver Syndrome. Upon leaving the doctor’s office she gave me two pieces of paper. One was an outdated medical article describing RSS, and the other was the URL for the MAGIC Foundation’s website. After logging on to MAGIC’s website, we joined and also started communicating with other families via a Yahoo listserve. At the time my biggest concern was her weight. With tips and advice from other families we tried everything we could think of to increase her caloric intake and avoid low blood sugar and spilling ketones.
We met Dr. Madeleine Harbison for the first time at our first MAGIC convention in 2002 when Alyssa was 18 months old. After about 30 seconds she promptly told us Alyssa was the most calorie deficient child she had seen to date (she weighed 15lbs and was 29 inches) and that if we were unable to get her to eat more and gain some weight she would need a gastrostomy tube. She confirmed our biggest fear that Alyssa was perilously thin, and prescribed Cyproheptadine (an appetite stimulant) and practically ordered us to fly to New York in 3 months so she could treat us herself. If Alyssa did not show significant weight gain after using the Cyproheptadine she wanted us to have Alyssa’s G-tube surgery in NY under her watchful care. We flew to NY that October and after careful consideration, knowing we had exhausted all other options, and that another winter full of probable sickness was upon us, we opted for the surgery. We were so scared, and felt as though we had failed Alyssa. After all, eating seemed such a simple task.
The surgery didn’t take very long and Alyssa was sent up to the PICU (Pediatric Intensive Care Unit) for the 24 hours following surgery. The hardest part was the few hours after her anesthesia wore off. She was VERY agitated and uncontrollable. This was not like our sweet daughter at all, and so the staff determined she was in pain and increased her pain medication. After several hours it was discovered she was having an itching side effect from the Morphine they had given her for pain. Once they gave her some Benedryl to combat the major itching she immediately calmed down, slept, and was up walking the next morning. She was moved to the pediatric wing where we spent several days. She was up walking and playing almost immediately.
The first 3 months were the hardest. Her site was tender and we carefully cleaned and tended it daily. It took us a few weeks to find a good rate of speed that her stomach could tolerate and adjust to life with 18 hours of tube feeding per day. Dr. Harbison did not want Alyssa to lose her eating skills so Alyssa was “off” her pump to eat 3 meals per day. We briefly battled granulation tissue (excess tissue that grows around the site), went to the doctor for one silver nitrate treatment and for a few weeks used a prescription Triamcinolone Acetonide Cream. After most of the excess tissue was gone we successfully kept it away with a daily rub of a tea tree oil mixture of 10 parts water to 1 part tea tree oil. We also discovered that a Polymem dressing was the most effective way to keep the granulation tissue at bay. Polymem is a light, thin foam sheet dressing we ordered from our DME (Durable Medical Equipment) supplier that pulled the moisture away from Alyssa’s skin increasing her comfort and creating a healthy granulation tissue free stoma site.
After three months Alyssa went back to NY for a follow up visit with Dr. Harbison. She had gained 5lbs and nearly3 inches in the 3 months since having her tube placed! She replaced Alyssa’s temporary foley tube with an AMT mini button (very similar to a Mic-key). The button sits close to Alyssa’s skin and is small and mostly unnoticeable under her clothes. She only has a tube attached during feeding. She still uses the Mini Button today.
Over time Alyssa has been on her pump for fewer hours. After a year or so she started overnight feeds only and our world has changed again. We are encouraging regular eating to combat her hypoglycemia and still use Cyproheptadine. I know as time passes we will use her tube less and less and although I do anticipate that day, I know we made the right decision for us.
After 2 years Alyssa doubled her weight and was on the charts for the first time holding strong at the 15%. And not only did her weight improve but she went from the 15% in height to the 50%! At nearly years old she weighed 30lbs and was almost 40in tall. She ran and played with her peers. She was discharged from Occupational/Physical Therapy. I had never realized what a tremendous effect her lack of calories had on so many things. The relief felt by our entire family (including Alyssa) when our world no longer revolved entirely around food was enormous. I never realized how time consuming feeding her had become. Meal times were no longer a chore for her or for us!
We have been so excited over the past few years that Alyssa’s height has been steadily climbing the charts. Oh, the praises we sing for a G-tube!! Alyssa went from the 5th percentile at age 2 to the 75th percentile in just under 2 years with no growth hormone!! It was a miracle! And then the questions came. . . . “Are you SURE she has RSS, she’s awfully tall?”
Alyssa is now 5 years old. Over the last year Alyssa’s once delayed bone age has begun to rapidly advance. We first noticed underarm body odor just after Alyssa’s 3rd birthday. Since underarm odor is an early indication of hormonal changes associated with Adrenarche we were diligent about having a bone age done every six months. The first bone age after noticing the body odor indicated a small advance still behind her chronological age. The second scan 6 months later indicated a more rapid advance to just past her chronological age. It was at this point that Dr. Harbison ran a series of blood tests to determine whether or not Alyssa was secreting hormones released during Adrenarche. By the time Alyssa was truly in hormonal adrenarche her bone age had advanced more than 18 months past her chronological age. Dr. Harbison prescribed Arimidex to hopefully slow down Alyssa’s advancing bone age.
The choice to take Arimidex, an aromatase inhibitor, to hopefully halt her advancing bone age was a relatively easy one for us. If her bone age is already advancing at such an alarming rate at such a young age, where will we be in 5 years? In addition, Alyssa now exhibits outward emotional signs of the raging hormones in her body! Not only were we not ready to handle the irrational emotional outbursts, neither was she!! We researched the available articles and decided that the VERY small pill once per day was the best option.
After six months on Arimidex we had another bone age done and the Arimidex is working!! At 5 years old, Alyssa’s bone age is nearly 7. And even though her bone age advanced 3 months, this is a far cry from the previous advances of nearly a year in the same 6 month period!
Our challenge now is that many of our family and friends find the bone age confusing and don’t understand why we keep testing it. After all, by appearance Alyssa looks completely normal. People think I’m crazy when I say she has growth disorder. I try to explain it like this. In simple terms, her bone age tells us how much time she has left to grow before her bone plates fuse, and therefore are unable to continue growing. Normally, this fusion occurs at the end of puberty. So although she is only 5 and she seems completely average in height, when she is compared to a 7 year old, you can see the problem. The 75th percentile for height for a 5 year old is below the 3rd percentile for a 7 year old!
We are hoping that by slowing down Alyssa’s advancing bone age we are buying her some extra time to grow. It is our hope that by controlling her bone age that perhaps we may not need to use Lupron or Zolodex (more invasive puberty suppressing medication), later on. Hopefully the Arimidex will slow things down and allow Alyssa a little longer to be a little girl!
In the last few months Alyssa’s growth velocity has slowed down significantly. It appears she has made all the catch up growth she can with caloric repletion and her adrenarche associated growth spurt is over. Her growth velocity has slowed to less than the normal 2 inches per year and Dr. Harbison has begun the process of beginning growth hormone therapy so that we don’t lose all of the gains we have made thus far. It appears we will be venturing down a new road on this RSS journey. Wish us luck!
Feel free to call our office or Email us: ContactUs@magicfoundation.org
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