Government at work....Seriously

Well, in less than 24 hours I got a response from Senator Windels which is posted here:

Grace:

I read your letter and you have made me aware of something I never dreamed could happen, much less something that happens time and again, although infrequently.

I have called my liaison to the Dept. of Public Health and asked that the dept. brief me on whether adding screening for asplenia has been discussed before and whether they would support adding the test to the newborn screening. She said she'd get back with me after talking to those involved with newborn screening.

My children are young adults but your letter brought me right back to memories of their early childhood and I found myself thinking about how devastated I would have been had they suffered the same birth defect and fate as Sophia.

Thank you for trying to save some other child and parent the heartbreak you have experienced. I admire your courage and will do what I can to help you with your goal.

I'll be in touch with you after I hear back from the Dept.

Best regards,

Sue Windels

So that's fantastic, hopefully we will make some progress there. We did discover something about Annie that makes us a bit worried though, even though they told us her pit count was nothing to worry about (7.4%, normal is 2% or 3.5%) I came across something that said that anything about 3.5% is considered hyposplenia, which according to the literature increases the risk for sepsis. I called the hematologist at Children's Hospital and she told me that she was sure it what would cause an elevated level, but she was sure it wasn't anything to worry about. But of course, we are worried. I faxed a bunch of the articles to our pediatrician, I don't know what she will have to say. But I also got the following email from a researcher who I contacted:

Thank you for your email. I am sorry to hear about your loss and I empathize with your concerns about your daughter. I will be glad to answer your questions to the best of my knowledge. Let me first start by saying that I am an internist (I treat adults and I have no clinical experience with children) and second, any opinion I provide for you here is a general guideline, like what you would otherwise obtain from medical literature, and cannot be regarded as a medical advice and doesn't establish a doctor-patient relationship. Agreeing to this, I will be glad to proceed to answer your questions.

1-The "normal range" for pitted red count is a very controversial area and a lot of it depends on the method used to make those counts specially the number of cells counted. Saying this, most patients who had functional hyposplenism and infectious complications reported in literature have pit counts > 15%. Which leaves this range of uncertainty of counts between 4-15%.

2-The definition of functional hyposplenism, according to the literature, is very controversial and an elevated pitted red cell count on its own doesn't establish the diagnosis of functional hyposplenism and cannot on its own justify prophylactic measures. Yet, it would warrant a search for an occult cause specially celiac disease. Celiac disease typically manifests late in life and is very unusual to present in children.

About congenital asplenia specially in relation to the Ivemark syndrome (in which asplenia is associated with congenital heart disease and anomalies in the intestine), recent research had suggested an abnormality in the the connexin 43 gene. It may be worthwhile to see a specialist in Medical Genetics. Although I doubt that testing for connexin 43 gene mutations is available in clinical laboratories. I hope you found these answers useful. If I can be of any further assistance, please don't hesitate to contact me.Sincerely,Basem M. William, M.D.

So we have that in our pile of information too...We basically have three general groups of questions now:

1. What happened in the ER the night Sophia died--did they do everything they should have in reference to the sepsis...were there signs she needed antibiotics.


2. Were there clues in Sophie's medical history that could have alerted someone to her asplenia. We want to raise awareness of the potential connections, especially between hemivertibrae and asplenia so that the doctors might thing to look in the future.


3. What does Annie's two spleens and elevated pit count mean for her in the near term (susceptibility to infections) and the long-term (having children and their chances of having Asplenia or some other related conditions.

We are still hoping to meet soon with the doctors from Children's--hopefully they can answer the first set of questions and give us the right direction for the others.