Eat Happy!

Eat Happy!

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Saturday, December 8, 2012

A Triple CHOP

Thursday was a day of productive appointments. Ian visited the Diagnostics and Complex Care department, the GERD clinic for troubled Nissen kids, and Endocrinology. Back-to-back morning appointments kept us on our toes. Each had something to offer Ian’s plan of care.

DIAGNOSTICS/ AKA: Dr. House!!

The first appointment of the day was with Diagnostics. Excited to see our “Dr. House” for the first time, we waited impatiently. We didn’t have to wait long as we were the first appointment of the day. Dr. Pasquariello and Dr. Magnusson have been at the clinic for a very long time. Dr. Pasquariello was appointed in 1963. We had the opportunity to meet with Dr. Magnusson. Our goal was to look at Ian from a Wholistic point of view. With Ian’s multiple diagnoses and issues, we thought having a global view of everything would be beneficial....... and man was it! We were impressed.

He had a lot of good things to say. He was able to point out a few things we are doing that are helpful and/or necessary. He also gave us some good advice on things that are most likely NOT issues and what can be discarded. Most importantly to us, he was able to rule out almost everything from an all-encompassing standpoint. The only unifying diagnosis would be Russell-Silver Syndrome (RSS). I will have a specific Russell-Silver BLOG post very soon....... but Genetics Home Resource describes RSS as:

Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected males is about 151 centimeters (4 feet, 11 inches) and the average height for affected females is about 140 centimeters (4 feet, 7 inches). 

Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and down-turned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development and learning disabilities. 

RSS is something we were already thinking about. After two different providers brought it up and two others confirmed plausibility, it has been on our minds. More on that later.......... 

Russell-Silver Syndrome- MAGIC Foundation

GERD CLINIC

Our second appointment of the day was with general surgery, the GERD clinic. We are always happy to visit Dr. Blinman and our Dietitian Robin. CHOP has been a lifesaver, literally. After everything they have done for us over the last year, Ian is in a far better place. Twelve months later, we were still dealing with retching. While this wasn’t the type of retching the drops oxygen levels, it was significant enough to elicit sweating, distress, and changes colors to red and purple. No one wants to see their child in that much distress, everyday.

On a recent visit to Ian’s pulmonologist, the retching came up in discussion. There are many pulmonary manifestations of reflux. With all the throat irritation, vagus nerve irritation, and esophageal irritation that can cause chest congestion and lung inflammation, the connection between pulmonary and reflux is well known. Also, ear, nose, and throat disorders can present form the irritation and congestion/inflammation/mucous.

Pulmonary manifestations of gastroesophageal reflux disease

Our pulmonologist has always been an excellent resource. There seems to be a large overlap in some of Ian’s team members, and large gaps in some others. We decided to try Ian on the erythromycin again. He previously used it from age three months to nine months. We stopped because it simply stopped working. It seems that there is a tolerance effect that occurs. Typically, there is a protocol of an “on-off” schedule to help keep the medication working.

Erythromycin, as you can remember, is an antibiotic...... an antibiotic that causes stomach cramping and diarrhea. GI has made that side effect “therapeutic.” By administering in a low dose, the stomach contractions that usually produce cramping still occur, but on a much lower scale. These contractions help the stomach empty quicker. This has often been used as a therapy for delayed gastric emptying. When drugs are used for this effect, they are called Prokinetics.

What is a Prokinetic?

Almost three weeks ago, Ian started a regimen of erythromycin. Ian has not retched since we started the medication. Tom and I hate to even talk about the great news since we are always shot down weeks later. We are hoping that since Ian had good results before, it can happen again. 



While not the original intentions of the CHOP clinic, they were willing to help work with us. The clinic’s philosophy is to use food and supplements, instead of medications, to help with symptoms. It seems as though we have been continuing to struggle. The erythromycin has helped Ian’s motility. By helping the food “move along,” he is accepting his meals more easily.

The dose of the erythromycin needed to be titrated to the lowest effective dose. Since erythromycin typically causes diarrhea from abdominal cramping (such as when taking it as an antibiotic), a minimal dose is desired. Ian has been doing very well so far. Soon, we will be taking an “off” time before restarting.

Ian’s calories were increased overnight so that he can get some “extra” calories before we visit the DAY program at Children’s Hospital of Richmond. Ian is in need of more calories. Hopefully, he can get some growth out of them.

ENDOCRINOLOGY

The last visit of the day was with Ian’s Endocrinologist. We were following up with him concerning Ian’s growth and failure to thrive. We are in the process of reviewing growth hormones. Ian would not begin until age three or four. Despite where we end up with Russell-Silver syndrome, Ian will most likely be undergoing a course of growth hormones.

He ordered a Bone-Age x-ray. This will help them identify where he is in the growing stages..... and can be compared to others later. It can also determine the ultimate growth of a person. This is useful for growth hormones as well as other growth disorder determinations. We completed the Bone Age while we were at CHOP. The Endocrinologist also ordered the Russell-Silver genetic testing.

What is a Bone Age x-ray?

An example of a bone age radiograph at 24 months of age
There are multiple options available when it comes to meeting Endocrinologists and Geneticists in this arena. There is an Endocrinologist in New York City specializing in Genetics, Russell-Silver in particular. Patients travel from all over the world to see her. Many children with this growth syndrome do not show an all-or-nothing yes or no answer. Her expertise includes making a knowledgable diagnosis, or exclusion. More information will follow in the RSS BLOG. A certain percentage, about 10-15% will show on genetic testing, but the other cases are based on clinical diagnoses.

The Endocrinologist at CHOP also ordered testing to evaluate Ian’s cortisol steroid levels. Ian is currently on Flovent, Flonase, regularly and Triamcinolone cream occasionally. The trouble is that being on a certain amount of steroids can suppress your body’s natural steroid production. A blood test will look at current levels. We will take care of this test later on. It must be done between 5A and 8A due to the body’s natural production of steroids.



After a full day of meetings, we headed back to Virginia. It felt good to be home!

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