Too Good to be True

So I had a bit of an ephiany today. In wondering why it has been so hard to do the things we need to do to move foward--get a new kitchen in the rental condo, exercise, set and keep goals--it occured to me that maybe subconsciously we don't want to move forward. Not for the obvious reason of leaving Sophia behind, but more because if life gets really good again something bad will happen. You know when Sophie was born, I had two healthy children, a great husband, house, job, Rachel.. I was dumbfounded because I never thought my life would be that good...i said as much to Mike all the time...like things were so good that I was worried something bad would have to happen to cancel it out. Of course I was thinking something more like me getting cancer or a tree falling through the roof. Anyway, I finally convinced myself that I was generally a good person and really deserved everything I had. Then Bam---it all was shattered. And that is why I think I am afraid to move forward....

Dr Evil (Note the Capital E)

Oh--I almost forgot to post about our horrible doctor appointment at the National Jewish Immunology Department on Wednesday. All we wanted was a simple blood test of the antibody levels in Annie's blood to see if her body had an immune response to her vaccinations. This is sort of the last check off on the list--and was recommended to us by 3 doctors...well the fellow takes our background information, consults with the doctor, who then proceeds to come in and tell us that we are hysterical and chasing shadows and we need to stop. We explained what we were looking for and he said we already had all the information we needed because we know Annie has a spleen and we know it is functioning (no howell-jollies). We explained about the pit count being elevated and he said that wasn't relevant. He berated me for EVER looking at the Internet...I explained to him that I was able to find quite a bit of relevant information on the internet, and that since he and his colleuges in different areas have such differing opinions, I, as my child's advocate have every right to seek out information. He said the other doctors were making us chase shadows...Mike was so good--asking why we should trust him over all others--he basically (and I am not kidding here) said that he is the most knowledgeable....I find it interesting that the NIH itself (see link above) thinks that the antibody titer test is useful but he doesn't. In the end we determined that the test would not harm Annie and had him do it.

The other recommendation we had was to get Annie a stronger vaccination against Pneumococcus..this came from Dr. Cordero and our pediatrician. Dr. Evil said that that vaccine does nothing for children. The APA and CDC both recommend that vaccine for kids 2-5 who could be high risk.....we were fuming...I have never felt so attached by a doctor...he chalked everything up to us being irrational grieving parents....we kept asking him why we should trust him over the other doctors....and that we didn't follow our gut when it came to Sophie (at least Mike's gut that the hemivertabra was somehow more serious) We have to now, we aren't turning Annie into our science experient by any means...she has had an echo and a spinal e-ray and a few blood tests, but all at the recommendation of doctors....I was happy to point out to Dr, Smarter than Everyone Else, that a simple Google search would have clued in the osteopath that hemivertabrae can be linked to asplenia......And I also got pleasure from telling him that I happen to know of a few parents whose kids have heterotaxy who diagnosed their own children with information they found on the Internet, because their damned doctors wouldn't believe them that something was wrong....look at a woman I know at work whose daugther was born with Congentital Heart Defect....often linked with other abonormalities of the intestines, spleen, liver, etc.....she was over 6 months old before her Mom had to REQUEST an ultrasound of her organs, and they found a kidney problem. So yes, I know doctors aren't perfect and that medicine is an art as well as a science---but I sure as hell wish that some of these doctors would stop pretending they know everything....there is a TON of evidence that they don't.......

We are still waiting on the results of the echo and the x-ray...been over a month now, I assume no news is good news but have put in a call just in case.....In the end we did get the test and the vaccine for Annie

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.

Good days and bad.....

Had a very weird moment yesterday where I had been fine all day and then just lost it, sobbing in my office. I decided to call Mike and when he answered the phone he was crying too...I wonder what happened to us both at that same moment....strange. Some days I am fine and some I don't know if I can stand it...never seeing her again, our little beattle bug....

Kristin's brother Evan has gotten us some amazing contacts and has written a letter to the former director of the National Center for Birth Defects and Developmental Disabilities http://www.cdc.gov/ncbddd/ asking if he could provide any more information about asplenia for us.....he also gave us the numbers and names for some local experts. The director of the state program here in Colorado has called me, her husband died unexpectedly in an accident recently, I felt so heartbroken for her. When she gets back into the office whe is going to get some information for us.

It may seem obsessive to anyone who hasn't been through this, I really don't spend all my days and nights thinking about the ER situation and asplenia, but I also have questions that I need answered, questions that I am hoping can shed some light on this mystery, can help us help doctors help patients, can prevent even one family (preferably more) from having to have to endure this heartbreaking, wrenching pain....

I also joined an online support group for Asplenia/Herotaxy/Ivemark's Although so far it hasn't been too helpful. At this point it seems like a group of people who have become good friends and don't talk too much about the condition or associated loss, but rather about their friendship, and everyone has ignore my posts (poor me) but at least I have tried.

Enjoy the picture from last Halloween....she was the most adorable little bat, but of course hated the hat

More questions than answers

Well, we now know Annie has a spleen and that it appears to be functioning (see previous post), but we are still waiting the results of two blood tests...we aren't really worried, but it has been two weeks so it would be nice to know.

I have been really struggling the past few days, frustrated by the lack of information about a) Sophie's condition and b) what happened in the ER that night. I finally took the step of going to the library and pulling all the journal articles that we keep seeing on Pub Med. One of the references was to a text book Human Malformations and Related Anomalies which had a chart showing that Asplenia and hemivertabrae are linked. That was a gut punch for both of us, and we want to get in front of the orthopedic doctor she saw to make sure he knows that. If it could prompt him to recommend an ultrasound for even one child with hemivertabrae and it saves them it would be worth everything. Another article that I have been curious about is one that suggests that when a child has recurring sepsis infections a doctor should check for asplenia. My question still is what would prompt them to check for a sepsis infection in the first place? If high fever with very sudden onset, shaking, vomiting, lethargy doesn't do it, how does a child survive a septic infection (I know they do).

I have been fighting with this last question for a week...what happened in the ER...is it what should have happened (please, please, please) If it isn't, will anyone ever be honest with us about that? It would help so much.....Mike suggested that I call the hospital and ask them to sit down with us, which I have. I left a message for the care center director on Tuesday, just asking if it was possible to sit down with someone and review her chart, what happened that night, the decisions that were made, the doctors notes. I don't think they will, but it is worth a shot.....I have stopped obsessing over it and will just wait to hear, if I don't then I will decide what to do next. We have also requested her medical records....anyone know a pediatrician who would want to review them for us?

Most recently I have read that asplenia happens 1 in 2000 births....if it really is that common this might be the beginning of a long crusade for me to raise awareness...for now, I just miss Sophie so much, I ache, all the time. Thank God for my amazing family, my strong and loving husband, our beautiful daughters and the incredible support for family and friends. I know Soph is at peace and I try to cherish the time I had with her.....Please if you know anyone who can help with our questions have them email or call us