Looks Like We Made It

Yesterday was April 27, one year since sweet angel Sophia Noel took her last breath. It seems like forever since I have held her in my arms. We made the weekend a busy one, which turned out to be the right think to do, at least for us. I really struggled last week at work and kept losing it, but Friday night my friend Tina flew in from Atlanta, and a bunch of my friends (Cathi, Kathy, Kristin and Shannon) came over and we made Team Sophie T-shirts--oh and drank a bunch of wine. It was fun and we laughed and cried a bit, it is amazing to have such incredible friends. After going to bed at 3:30 a.m. and getting up at 8:00, Saturday was a bit of a challenge...we had a birthday party (for a two year old!) and then had to get everything ready for Sunday
Sunday itself started a little strange. As we were getting ready an ambulance screamed by right around 6:00 a.m.--it doesn't happen by our house very often so it was a freaky coincidence and it really threw Mike and I for a loop. Then Mike was getting a backpack ready to go and pulled out one of Sophie's pacifiers. It was too much. Amazingly the rest of the day was pretty incredible, about 40 people showed up to run or walk with Team Sophie, all wearing t-shirts with her picture on the back. It was hard to be really sad with that much love and support surrounding us the whole time. We came in nearly dead last too.....but nobody cared!
At the finish line Sophie's day care teacher Miss Laura, who we hadn't seen since last summer--noticed Sophie's picture on the back of someone's t-shirt. She waited around for us and was so sweet. They still think about Sophia at the Wooden Shoe and were headed out to the cemetery to place some flowers.
Today Mike and I are mellowing out at home, trying to decompress. I feel as though maybe we have turned a corner, having been through the firsts (birthday, christmas, easter, etc) but maybe it is just wishful thinking.....Thanks everyone for loving us so much......

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......

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

blood test, boxes, and bags (oh my?)

We are really hoping to get the results of Anne Marie's blood test this weekend so we can breathe easy knowing she will be o.k. They are doing three tests, one to test for the Howell-Jolly (http://www.answers.com/topic/howell-jolly-body) bodies, the presence of which indicate a missing or non-functioning spleen. Since we know Annie has a spleen this will tell us if hers is working. The other test is futher confirmation, something called a pit-count and the third is to test liver function to verify that something they saw on the ultrasound is not a problem. The chances are small that anything will be wrong with her, but after what we have been through it is difficult to have any peace without knowing for sure.

Last weekend I bagged and boxed most of Sophie's clothes, it was extremely difficult. I had to rush through it so I didn't stop and look at everything and remember. I couldn't part with the shoes, mostly because she loved shoes so much--she would bring her shoes, or Annie's (or mine or Mike's or Rachel's for that matter) up to you and have you put them on, then she loved to take them off....We don't want to eradicate her memory, and there is some stuff I will never be able to get rid of...like the little pink tutu that she loved to wear.

I miss her so much...which seems like such an obvious thing to say. An amazing little girl, I would love to kiss her, hold her, tickle her or even spend all night trying to get her to sleep again, it's really sinking in that this is real, that she is not coming back and it is so hard.