Now that I finally have two hours to myself while the Monkey sleeps, I can tell you about my trip to DC!
I left my house at around 1pm Wednesday in order to make it early to the airport, but when I get there, I see there was really no need as it is the tiniest airport I've ever been to.
There is only two other passengers flying out with me on yet another tiny "puddle jumper", as I like to call them.
The flight is uneventful, we land in Staunton, Va and wait on the plane while more passengers board. The plane taxis down the runway, they turn the engine off, then back on and rev up the engines (like they're supposed to), but then the captain comes on over the speaker "Ummm, looks like we have a problem with a sensor in Engine 1, we're going to have to turn around and take a look at it." Now tell me, am I the only one who heard "something is wrong with the engine?" Because I seemed to be the only aboard worried about it!
We turn around, they kick all of us off the plane and we wait while a technician comes to check out the engine. 45 minutes later, a woman comes to tell us that they are rescheduling our flights and finding other modes of transportation for the rest of us.
It seems most of the passengers are all trying to catch an international flight so they are all priority. Some are taken on a bus to another airport to catch a flight to DC, some cancel flights, some go home, and the rest of us wait on a bus to drive us the rest of the way to DC. (see the broken plane>>)
Three hours later our bus shows up. At this point, I am so ready to be on the road; the airport I have been sitting in for the past 4 hours only had a vending machine, that only accepted change, as a choice for food and drinks. Thank God they had free wireless or I would have walked to DC.
Anyway, the bus shows up and it's not just any bus, it's a
party bus. Ha! We waited three hours for a party bus!? This is priceless. This thing is loaded with TV's, lights, a cooler, and giant couch sized seats, that were in fact, very comfortable.
The only thing it was missing was the alcohol.
The drive to DC isn't bad, in fact, the country side in Shenandoah county is gorgeous. I listen to music, fail multiple times at trying to nap, and try to enjoy the ride. By the time we get to DC, it's around 10pm, a full 9 hours after I left my house. I find out later it only takes 5 hours to drive from my house to DC. *facepalm*.
I now have to catch a super shuttle from the airport to my hotel. I stop first to get some dinner, then wander around like a tourist till I find the shuttle desk. After a short wait, the bus shows up; after we pick up two more passengers, we are on our way. 45 minutes later I finally make it to my hotel! It only took me 10 hours to make it from my house to Alexandria, Va. Oi.
The next morning when I wake up, it takes a second for me to remember where I am, then I just smile. I will never get used to this feeling; that feeling I get when I think about all the places and all the people I have met because of Corbin.
Amazing.
Once I get downstairs, I'm finally able to meet the people who I've been talking to over the phone for the past 5 months! We introduce ourselves, then head into the meeting.
Yay!
The meeting is long and very detailed; we are basically an audience to an actual discussion where the committee can vote on diseases/disorders to add the the newborn screening panel. The panel is made up of doctors and members of organizations that are concerned with newborn health, genetics, and heritable diseases. The full list can be found
here.
The full name of the meeting you can see in the photo: the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. This committee advises the secretary of Health and Human Resources,
Kathleen Sebelius. She also took the committee's advice to recommend
pulse oximetry testing to be added to the newborn screening panel. This does not make it mandatory, but is a nationwide suggestion. This was something, I believe, that helped us get Corbin's bill passed.
At one point in the meeting, they allow for public comments, or comments from the audience. Those of us in the Work Force wrote up a group comment to say in three pieces.
This comment is a GROUP COMMENT representing these 10 individuals on this task force, This comment does not reflect the official position of Genetic Alliance.
Closing the GAPS through Consumer Task Force Awareness…
Today we come together as the Baby’s First Test Consumer Task Force to ask the Secretary’s advisory committee for assistance. We are all here today as concerned and invested consumers of the newborn screening process. Through our advocacy efforts we hope to close some Gaps that we feel as parents, must be addressed in order to adequately help each and every child affected by heritable disorders to have a long, healthy and productive life. We would like to commend and applaud the committee for the huge strides it has made in adding screenings to the recommended panel and bringing uniformity and awareness to the ever expanding field of detectable and treatable heritable disorders in children.
The GAPS we would like to focus our advocacy efforts on ARE: 1) What screenings are available/recommended and what is actually tested for in each state
2) Awareness at a primary care/pediatric care level so that warning symptoms may be caught, preliminary testing can begin and referrals can be made and as early as possible (for those disorders not currently being screened for and/or for later onset of those disorders that are screened for).
3) Communication and education with both the healthcare providers and the public about newborn screening
4) Being told your child has a positive newborn screen and what the treatment protocol/options/ testing should be
5) Standards of care and best practices that make a newborn screening system practical and effective for those with heritable disorders
1) Our hope to close the Gap between what screenings are available/recommended by this committee and what is actually tested for in each state, is one that tops the list. We are asking the committee to further encourage the states to implement screening for all Recommended Uniform Screening Panel and secondary conditions by 2015. For task force member William Morris, son of 2 sons with genetic disorders, PKU and Krabbe Disease, the lack of any general understanding about newborn screening by parents is tragic at best, dangerous at worst. For instance, William points out that everyone knows that children are receiving immunizations to protect them from disease, but not many realize the role that screening plays in diagnosing disorders and focusing treatments for an ever-expanding number of rare disorders, many that are controlled with case specific intervention if started in a specific window. We are parents working at our state levels to get these panels implemented, but we need assistance from this committee to have a greater impact on awareness and ACTION of getting EVERY CHILD in EVERY STATE screened for ALL 57 DISORDERS. There are already so many factors that a affect the health of a child, which state you are born in should not be one of them.
2) Through Awareness, we hope to close the Gap between metabolic/genetic/newborn screening awareness at a primary care/pediatric care level so that warning symptoms may be caught, preliminary testing can begin and referrals can be made and as early as possible (especially for those disorders not currently being screened for and/or for later onset of those disorders that are screened for). It is our hope that this committee will provide further training and information to pediatricians (through APA) and PCP’s so that these disorders are not misdiagnosed as autism, bipolar disorder, speech delay, failure to thrive, developmental delay, mental retardation, cerebral palsy, epilepsy, reflux or colic, by practitioners who may not know to screen for metabolic disorders, beyond newborn screening at birth. Task force member, Kristi Wees, has experienced this gap first hand with her 3 year old daughter who is suspected of having a mitochondrial disorder with symptoms starting at 2 weeks of age. After nearly 3 years of testing and seeing 14 doctors/specialists, they still do not have confirmation or a treatment plan. Metabolic testing was not even considered by medical professionals until nearly a year and a half of escalating symptoms.
3) A study published in the American Journal of Obstetrics and Gynecology in May of 2005 showed that there are also gaps in communication and education with both the healthcare providers and the public about newborn screening. Therefore we believe that closing the educational gap amongst healthcare providers, making education for parents more consistent when there is a result (positive or negative) and exploring how to ensure more accountability to the state health department that each family is being educated about newborn screening, resources available, etc. during the prenatal period is essential. Consumer Task Force Member, Chantel Murray remembers when her son was diagnosed with Cystic Fibrosis based off of an inconclusive newborn screening test. Although she went to a high risk obstetrician for prenatal care and was a neonatal nurse herself she never received any education or information on newborn screening and found that she and her husband had a lot of questions about the results not knowing who to turn to for answers and help.
4) To echo, Ms. Murray concerns, Consumer Task force member Amanda Beard feels that the biggest gap with the current NBS system is that the follow-up care on the screening tests is disorganized/inconsistent or in some cases non-existent. The lack of education provided to the people that work with the parents, and to the parents themselves, is very detrimental to the child’s outcome. We acknowledge that there are professionals that have the desired education, but unfortunately those people are in the minority. The lack of strict standard protocol awareness can significantly delay diagnosis and close windows of opportunity to get vital information about the child’s disorder, as well. Mrs. Beard, experienced this first hand with her son, Wyatt, failing his NBS hearing test. His case was treated as if his abnormal test result was actually normal, because the screening gives so many false positives. They went for months, not knowing if he was or wasn’t hearing impaired… just sat in limbo. Now Wyatt is facing delays in speech and communication that can lead to behavior issues and learning delays. Amanda has found through connections with Early Hearing Detection and Intervention, that the results of the Newborn Screening hearing test are routinely not valued to be reliable or urgent by the professionals and parents are desperately seeking information and support in the time period that they are being forced to endure. It is her hope, that the committee will acknowledge this need and fill in the informational gap with regulated, mandatory, education for all providers of newborn screening. This will allow them to perform the screening and give recommendations for follow-up more effectively, along with providing more consistent support to the parents.
5) It’s amazing how far we’ve come in expanding newborn screening across the country, and this committee deserves a lot of credit for setting out national recommendations. Task force member Mark Engeman, believes it is also important for the Committee to explore standards and best practices that make a newborn screening system practical and effective. Mark’s son was born with Congenital Adrenal Hyperplasia (CAH), here in the District of Columbia, before DC screened for that disorder. He survived long enough to be diagnosed and put on medication, and he is a thriving teenager. If he has a serous illness or accident, he requires an emergency injection of hydrocortisone, or he would go into shock and likely die. However, if Mark wasn’t there, and an ambulance came to take him to the hospital, the paramedics would not have the knowledge, authorization, or medication to give him the shot that could save his life.
As private citizens, parents and members of this task force, we will work with our local decision-makers to make changes and spread awareness in the coming year. We hope that this committee would also look more closely at other elements of the newborn screening system, beyond the screens themselves, and assist us in CLOSING THE GAPS for future generations to come, so we can all continue to CONNECT THE DOTS, one blood spot at a time!
There was also a family that stood up to tell
their heartbreaking story of having three children with
MPS1, a genetic disorder that causes a deficiency in a certain enzyme and occurs in about 1 in 100,000 births. Sadly, most children die before age 10. Their story moved the whole room; watching the father tell their story while his wife and two daughters stood behind him.
After the public comment, we broke for lunch and I finally got to meet two of the greatest advocates for pulse ox, Kristine McCormick and Annamarie Saarinen.
Here they are being awesome, while I take pictures like the paparazzi. :D
I also got a chance to sit with my fellow Work Force members and get to know them better.
Amanda on the left came to the Work Force from Nebraska, after her son failed his newborn hearing test and she struggled to find out if he had true hearing loss or not, resulting in unnecessary speech delay.
Julie (Ohio), on the right, became interested in newborn screening after her
newborn daughter died unexpectedly from an undiagnosed genetic condition, that they still have no true diagnosis for.
Kristi (Texas), on the right, is actively involved in newborn screening and lives it every day with her daughter. Her daughter struggles with symptoms of a disease that they have not yet found a diagnosis for. Since they don't know what it is they don't know what to test for, and that is something Kristi wants to change. They are currently suspecting a mitochondrial disease.
Willa (Pennsylvania) on the bottom left, is a nurse that has been awarded funding to study and help African American mothers with depression, stress, and anxiety. She has participated in many studies since 1991 that focused on the health of cocaine exposed newborns.
Bill (Texas) on the far right, is very involved in newborn screening after the death of his son Greyson, who passed from
Krabbe Disease just 6 days shy of his first birthday. Bill and his family went on to get
a law passed that took Texas from screening for 27 disordes, to a rocking 52, among many other things I could not explain correctly in this post (please visit
here to learn more).
Stacy (Tennessee) in the middle, has been involved most of her life as her sister has a form of sickle cell disease, she herself is a carrier, as is her son. Stacy has been very involved as a nurse, she launched a pilot study to come up with a newborn screening module to help nurses with the screening process.
Finally,
Kee (Tennessee) on the left comes with a scientific mind hoping to study more about newborn screening. She herself helped develop a test to screen for
SCID, a inherited disorder that compromises the immune system (it's much more complicated then that, please follow the link to learn more).
Finally, there is team member
Mark, (not pictured) who I got to meet very briefly over dinner, and whose resume is very impressive. His experience with his son's diagnosis of
Congenital Adrenal Hyperplasia motivated him to help expand the newborn screening panel in DC to the most expansive in the country. Please read
his bio as I am just in awe of what he has gotten accomplished and I felt very humbled to have met such an advocate.
Lastly, there is team member
Chantel, who I didn't get to meet as her son was sick and she could not make the meeting. She is involved as a nurse and as a mother of a boy with cystic fibrosis. She advocates daily, educating parents about newborn screening and the importance of being involved with the follow up after the test.
To be continued...
