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.

Destiny is not a matter of chance, but a matter of choice?

First, Anne Marie is fine, thanks to everyone who called to keep me from falling off the hairy edge. Second, I just love this sleepy picture of Sophie when she was just a few months old. I was getting ready for work and she was sound asleep in our bed.

Well, it has finally started....I think. Here is a letter I wrote to my state senator Sue Windels (http://www.suewindels.com/) urging her to get a blood test for Asplenia added to the Colorado Newborn Screening Program

Dear Senator Windels:

I am a constituent writing to ask for your assistance in changing some current legislation regarding newborn screening in Colorado. In April of this year we lost our precious 15-month old daughter, Sophia Noel, to an overwhelming septic infection. She was fine at 7:00 p.m., developed a fever around 9:00 p.m. went to the ER and were sent home, and she was dead by 3:00 a.m. The autopsy concluded that she was born without a spleen and because of this her body was unable to fight off the encapsulated bacteria attacking her system—this despite the four doses of the recommended vaccine against this bacteria.

We were shocked. How is a child born with out an organ and for 15 months nobody knows? In the weeks since her death my husband and I have become avid researchers, seeking to find every bit of information we can on congenital asplenia, whether anyone could have known, and if anything could have been done to save her. What we have found out so far is that asplenia, while rare, is much more common than many of the birth defects and disorders covered in the Colorado Newborn Screening Program. Additionally, had her doctors known she didn’t have a spleen she could have been on prophylactic antibiotics and might have lived a normal, healthy life. Finally, we have learned that a simple blood test or an ultrasound can determine whether or not a child has a functioning spleen.

The relevant portions of the Colorado Revised Statues are:

25-4-1002. Legislative declaration.
Statute text
(1) The general assembly hereby finds and declares that:
(a) State policy regarding newborn screening and genetic counseling and education should be made with full public knowledge, in light of expert opinion, and should be constantly reviewed to consider changing medical knowledge and ensure full public protection;
AND

(c) The board of health shall use the following criteria to determine whether or not to test infants for conditions which are not specifically enumerated in this subsection (1):
(I) The condition for which the test is designed presents a significant danger to the health of the infant or his family and is amenable to treatment;
(II) The incidence of the condition is sufficiently high to warrant screening;
(III) The test meets commonly accepted clinical standards of reliability, as demonstrated through research or use in another state or jurisdiction; and
(IV) The cost-benefit consequences of screening are acceptable within the context of the total newborn screening program.
(2) The executive director of the department of public health and environment shall assess a fee which is sufficient to cover the costs of such testing and to accomplish the other purposes of this part 10. Hospitals shall assess a reasonable fee to be charged the parent or parents of the infant to cover the costs of handling the specimens, the reimbursement of laboratory costs, and the costs of providing other services necessary to implement the purposes of this part 10.
I believe that a test for congenital asplenia meets these criteria. I address each one individually below:

(I) The absence of a spleen is a significant danger to the health of the infant, in the absence of a congenital heart defect, Asplenia is often diagnosed at autopsy. However, if the condition is known the proper precautions can be taken and the child can live a healthy life. An asplenic child who reaches 5 years of age has a greatly reduced risk of succumbing to an overwhelming septic infection (see http://www.emedicine.com/ped/topic150.htm for more details)

(II) The exact incidence is not known, but is estimated somewhere between 1 in 2,000 to 1 in 15,000. Either of these are more common than many of the tests currently in the screening program. For example, Homocystinuria, MSUD, and Isovaleric Acidemia all have an incidence of 1 in 100,000. PKU has an incidence rate of 1 in 25,000 births and Sickle Cell Anemia occurs in approximately 1 in 5,000 births. These statistics are from the March of Dimes website.

(III) Obviously ultrasound at the hospital upon birth is an accepted clinical standard. When both of my daughters were born there was an ultrasound machine in the delivery room. However, there is also a blood test which can detect the condition. There is a certain type of body (Howell Jolly) that will be present if the spleen is not functioning properly.

(IV) Having suffered the loss of our daughter and knowing that she might have been saved if we had only known she didn’t have a spleen, there is no question in our mind that whatever the cost it would have been worth it. According to the CDC (http://www.cdc.gov/nchs/data/nvsr/nvsr54/nvsr54_20.pdf) there were 69,804 live births in Colorado in 2005. Assuming an incidence rate of 1 in 15,000, nearly 5 asplenic children could potentially be identified each year. This is more than are diagnosed with many of the other diseases for which we currently test. Identifying these children doesn’t just ensure healthy development, but can save lives. Our experience with Children’s Hospital was that the blood test cost $75.00. I can’t put a cost benefit on an infants life, but Sophie was certainly worth more than $75.00

Much of the academic research available in respected medical journals urges that more awareness of this condition can save lives. Physicians are busy, and as ours told us trained to look for quarter-horses, not zebras. In the time since Sophia’s death several of our friends have talked to their pediatricians about Asplenia and were all assured there was nothing to worry about. This without a blood test, without the physician even bothering to search Google or Pubmed. Our 2 year old niece spiked a sudden fever of 106 in the days after Sophia’s death and the ER physician wouldn’t even consent to a blood test. (Thankfully she was o.k.) My point here being that doctors are not going to look for this, the medical system is set up to let babies like Sophia die. The general attitude seems to be that some children are expendable. But if it were your child, I’m sure you would do anything to save his or her life. Without legislation, or a change in the program at CDPHE, doctors will not look for this condition.

As one of your constituents, who voted for you, and as a mother, I am asking you to pursue a change in policy or legislation to test for this condition. At the very least parents should be given the information and the option to pay for a confirming blood test or ultrasound should they choose. Many parents are paying thousands of dollars to bank their parents cord blood for a statistically unlikely event. Surely many of them would also be willing to pay $75 to save their child’s life. I don’t remember what the specific test was, but I know when Sophia was born her doctor recommended a test that would cost us an additional amount (somewhere around $25) and we paid it. If I can be the catalyst for just one parent to find out before it is too late that their child is asplenic, Sophie’s death will have some meaning for me.

I am willing and able to talk more to you, via email, in person or on the phone. I have volumes of articles from medical journals I am willing to share. I appreciate your help, your public service and all you do for Colorado.

So I sent that to her today. I might send it to the Governor too. I am really hoping to take this all the way and to get that test added, or at least made available. I'm a little afraid that if the fight is too hard I might run out of steam later (those of you who know me well might be nodding your heads) but since it isn't a constant fight and with everybody's support (especially Mike) I think I can do it. A special thanks to Nancy for putting the idea in my head in the first place.

Many of you have asked if there is anything you can do....you could alter the letter and send it to Senator Windels, or to your representatives in the State House (http://www.vote-smart.org/index.htm) and I might just ask folks to do that if I don't hear something back soon.....I love you all so much, I couldn't have made it this far without you......

It had to happen sometime....why this weekend?

Anne Marie got her first fever this weekend, well not her first, but her first since Sophie died. Of couse it had to be the weekend that Mike is out of town. She got up to 102.7, but Renee (my sister) came over and kept me sane. She's the only reason I got any sleep last night. She's had fevers before, of course, but I am nervous. She seems to be doing better now as she is fighting me really hard about going to bed...it's a good sign so I am trying not to be too irritated. The folks on the list serve seem to think that having two spleens means she has polysplenia, the diagnosis was "small accessory spleen", so I'm not sure what, if anything the difference is. Good question for her doctor.

We are still waiting on getting to meet with the ER doctors. We were gone, then they were, so maybe the first week in August. I have been writing down my questions and reviewing her medical records so I can make sure I don't leave any questions unanswered there. We still need to decide what to do about talking to the pulmonologist and the orthopedic doctor, we want to make sure they know that there can be a connection.

I'm still doing pretty good....thanks everyone for so much support...

Open foot insert mouth

The online support group has turned out to be actually an amazing source of information. Some people have lost children to asplenia, polysplenia, heterotaxy, etc and others are battling it every day...these people have more information than any of the doctors....and they are amazingly supportive. I was just being impatient as usualy.

Just wanted to let anyone who is reading know that I had a very bright and happy day today (anything to do with the venti iced latte this morning?) And that I miss the little beetle bug but am feeling happy.......

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

Life Returns to.....Normal?

Will life ever be normal again? I can't imagine that it will, we did go on vacation last week and it was nice to get away, very relaxing. Right before we left we got a call from the director at the ER where Sophie was seen the night she died....they are willing to meet with us to talk, which is helpful. We are trying to schedule that now. She answered some of my questions like:

Why didn't they take her blood pressure? Apparently they don't take it in kids that young, they don't find it to be useful, in her case it seems like it would have been one of the few things that could have saved her, surely her blood pressure was dropping by then, only a few hours before she died? She didn't answer my other question about why they didn't take blood, I still struggle with trying to understand how an asplenic child EVER survives a sepsis infection, because what would prompt the doctors to ever check for it...I will want to ask about it for sure. She told me that she didn't think that even if they had for some reason started IV antibiotics right then they could have saved her...I find that somewhat hard to swallow, when we got to the ER she had a fever for 2 hours tops......if she wasn't sick enough for them to register something was seriously wrong.

Anyway, I am happy to have a chance to meet with them, although I know it will be very hard, at least we don't have to sue them just to get some answers. And I am sure they must have cleared it with their legal department who must feel that they did everything right, so that gives me some peace too.

In general, 11 weeks from the single most horrible day of my life, I am less anxious, sad but not as much, and maybe moving toward acceptance, I don't know......