Friday, September 7, 2012
We finally have a diagnosis (and a treatment) for Meghan!
A little background
Meghan started showing poor growth in weight and height when she was six months old. As a result, she has been put through a large battery of tests to rule out a wide array of disorders. Here is a list: cardiac echo and EKG, kidney ultrasound, numerous analyses of her diet and caloric intake, scope and biopsy of her complete digestive tract, sweat chloride testing for cystic fibrosis, x-rays of her bones, blood tests for thyroid function and numerous other endocrine disorders, growth hormone stimulation test, and I'm sure a few I'm forgetting. The most important thing we did was keep very careful track of her height and weight growth charts, particularly as we moved from Florida to Minnesota. Throughout all of these tests, each result was the same: normal. Meghan's dramatic growth charts kept us and her doctors searching for something that was wrong as they had never seen such poor height & weight in such a healthy, smart kid.
The only test that ever came back abnormally low was Insulin-like Growth Factor-1 (IGF-1). A low IGF-1 level can be caused by several things: malnutrition, growth hormone dysfunction, etc. We proved to her doctors several times that Meghan was not malnourished. She is a ravenous eater. She did have a growth hormone stimulation test, which showed that her growth hormone was produced in adequate amounts.
I placed Meghan's growth charts below. Most children will start growing along one of the curves and follow that same curve. You can see that Meghan does not follow any curve and most recently develops in a mostly-straight line. These charts were the best indication that something was very wrong.
This Length-for-Age chart shows how important it is that the nurses measure the little ones correctly. You can see that Meghan supposedly lost an inch from 4 to 6 months. This one error caused several doctors to discount the validity of her entire past growth chart and greatly prolonged our process of showing she was not growing. Everyone wanted to follow Meghan themselves for 12 months because they couldn't believe the previous results.
After the growth hormone test, our endocrinologist consulted with several other growth experts, and they all decided that Meghan most closely fits the diagnosis of Primary IGF-1 deficiency. IGF-1 is stimulated by growth hormone. In Meghan's case, she makes adequate growth hormone, and the growth hormone receptor is functional, but for some reason does not make enough IGF-1. In most children with IGF-1 deficiency, a protein called IGF3 binding protein is also low. Meghan only recently began to have low levels of this protein, which made her diagnosis a little bit more difficult and prolonged.
I joined a Facebook group nearly a year ago consisting of families of children with IGF-1 deficiency on a hunch that Meghan fit the diagnosis. While children with growth hormone deficiency are generally short and chubby, the children with IGF-1 deficiency tend to be skinny, just like Meghan. Luckily for us, the leader of this IGF1 deficiency group lives in Brooklyn Park, MN, which is less than an hour from our house. She has already proven supportive in waiting for test results as her daughter has the same doctor as Meghan.
We are very lucky that even though IGF-1 deficiency was discovered relatively recently, a treatment is available. Some children respond well to injections of growth hormone. Increasing Meghan's growth hormone may increase her production of IGF-1. Children that do not respond to the growth hormone receive synthetic (laboratory-made) IGF-1 injections called Increlex. We do not know to which injections Meghan will best respond. In a few weeks, Meghan will have her blood drawn for IGF-1, receive 4 days of growth hormone injections, and then have her IGF-1 levels checked again. The response to this test will determine which injection Meg receives. The growth hormone injections would be once a day, have very few side effects, and she would receive them at least until she passed through puberty. The Increlex (IGF1) injections would be twice a day, have the possible side effect of low blood sugar, and she would receive them at least until she passed through puberty. The needle for the injections would be the same as that used by a diabetic to inject insulin, so thankfully they are fairly small and go into the fat rather than the muscle.
We are gradually learning how to navigate through insurance company barriers. Fortunately, we have been assured that the burden of proof Meghan needs this treatment and the insurance company should pay for the treatment lies with our physicians. Meghan certainly fits the poor height criteria for receiving the injections, however her IGF-1 is only 2.3 standard deviations below the mean and insurance requires this number to be 3 standard deviations below the mean. Our physician has submitted the forms to our insurance company and we are now just waiting for their approval or rejection. If our insurance company rejects the proposal, apparently our physician files an appeal.
These injections are very expensive, costing roughly $10,000 per month. Luckily, if our insurance covers the injections our cost will be $100-200 a month, which is much more feasible for us. I really am not certain what will happen if the insurance company rejects Meghan's treatment.
Growth therapies are constantly on the chopping block for all politicians. (I can't claim party affiliation on this one.) To a lay person, the only role of these drugs is to make people taller. As our country's medical system is scrutinized and reformed (which is without a doubt needed) by both political parties, this costly medical treatment will be even further scrutinized. We do not qualify for government medical assistance, but generally any restriction the government places on healthcare is endorsed by the private insurers, and we would still be affected.
What if Meghan does not receive the treatment?
At Meghan's current rate of growth, she would reach a height of about 4 foot 6 inches at the most. We do not have an estimate on her projected weight, but based upon her current stagnant weight of 19 pounds, she faces extreme risks if she were to become ill and unable to eat for more than a couple of days. At this time, her brain development appears to be keeping up and exceeding her peers. We are hopeful that the treatment would give Meghan more energy. At the age of 28 months, she still takes two long naps a day and is regularly lethargic. Our biggest fear is that Meghan will catch a virus that will render her unable to eat as she has absolutely no reserve food supply.
At this time, we do not know if this is an inherited condition. Camille, Meghan's big sister, has always been small, but she has always followed the 25% for growth. Recently her height dropped to the 10%, so Camille is also being watched closely for growth delay, but we hope this is just a phase. Some children are not diagnosed until they are 5-7 years old or older. Fortunately, Camille has never shown the lethargy that Meghan has. I have a history on my mother's side of family members with very short stature. My grandfather was a very tiny man and weighed about 130 lbs at his heaviest. Ken's family also has several small family members.
We are so grateful for all of the prayers we have received through all of this. Please keep them coming!