Wednesday, May 25, 2016

Congrats Grad!

This 2016 Graduate ROCKS!!!







I am really bad at keeping up with this blog, I'll admit it!!!  BUT, how did I not blog this wedding?  Geesh!  This was such a unique wedding and I enjoyed every aspect of it.  I really love documenting events like this!  











Saturday, September 12, 2015

Look at this breathtaking natural beauty!!!

This baby is so lucky already to be born into this family!!!










Please read and SHARE!!! BE THE AWARENESS! -Misdiagnosed until adulthood, Jen's (rare) Chiari story!


"The diagnosis was life changing for me. This was not in a
bad way but in the way that I finally had answers."

Chiari Malformation:


Chiari Malformation is a neurological disorder that results in a disruption of cerebral spinal fluid due to the brain (cerebellar tonsils) descending down out of the skull into the spinal area.

Chiari is sometimes seen with conditions such as Spina Bifida.

Other terms for Chiari are: tonsillar ectopia, Hindbrain herniation.

Symptoms vary, but the biggest symptom are recurring headaches with intense pressure in the back of the head, which is made worse by movement and everyday things like coughing and straining.

Other symptoms include: balance problems, fullness in ears, and chronic pain.

Due to limited research funding, no Chiari genes have been identified so no genetic testing is available.  Originally, Chiari was not thought to run in families. Duke University is now doing a study on 100 families that all have 2 or more members with Chiari.

There is no cure for Chiari; however, surgeries can alleviate symptoms.  The most commonly done surgery is decompression surgery.

It is being discovered that Chiari is less rare than originally thought.  A conservative estimate states that 1 in 1000 people have Chiari malformation.  Finding a doctor who is able to correctly diagnose Chiari is still very rare.  THIS IS WHY AWARENESS IS SO VERY IMPORTANT!
See more on Chiari here:

conquerchiari.org

Sign up for the Chiari walk from the link above!  The walk is on September 19th! 



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Misdiagnosed until adulthood, Jen's Chiari story




In April 2014, I found myself sitting in the neurosurgeon’s office at John’s Hopkins University. The surgeon told me she would need to perform brain surgery. She would remove some of the back portion of my skull, my first vertebrae, make a cut into the covering of my brain and put a patch in to make more room for my brain. They would then place a titanium mesh over the area of the removed skull and stitch the muscles together to protect the area. To most people this would have been the worst news they had ever heard. For me it was the best news I had heard in 15 years.

Chiari Malformation is usually something you are born with. For this reason, many children find out young that something is wrong. However, for a growing number of us we do not get a diagnosis until later in life. The reason for this can vary but in my case, there were many symptoms and problems that the doctors could not tie together. There is a lack knowledge about Chiari Malformation by the general medical profession. For this reason I was left to suffer with headaches, neck pain, increased pressure in my brain, weakness, fatigue, dizziness, nausea, adrenal problems, multiple miscarriages, insomnia, and balance issues, just to name a few of my symptoms. I lived my twenties and early thirties feeling like I was living my own episode of Mystery Diagnosis.

When you are a 20-year-old woman complaining of some of these symptoms you are looked at as complaining, dramatic, drug seeking or attention seeking. I was none of these. I was sick but since they could not see it outwardly, they blew me off. Time and time again, specialist after specialist. I was lead to believe I was depressed, and at times that this was all in my head. However, what no one knew was it really was all in my head the whole time.

After several hospitalizations, spinal taps and failed treatments I had a neurologist who kept saying to me that how I described my symptoms I sounded like a person with Chiari. So after one of my Emergency Room visits and spinal taps, he took it upon himself at home on a Saturday, to look at my old MRIs dating back 7 years prior. Sure enough, he found it on an MRI from 2007. It showed a herniation of my brain down into my spinal column. It was there the whole time and no one caught it. This was the cause of my symptoms. My brain was blocking the flow of spinal fluid to my brain. My cerebellum (bottom portion of the brain) was putting pressure on the brain stem. The increased pressure in my brain had pressed my pituitary gland to the point it could not been seen on MRI (empty sella). This in itself had caused me many problems.

The diagnosis was life changing for me. This was not in a bad way but in the way that I finally had answers. When I first met my neurosurgeon, she asked if I was a clumsy kid or if I ever learned to ride a bike or roller skate. When I answered that, I had not learn to ride a bike until my teens and I was always tripping over my own feet or up the stairs. She said that my Chiari Malformation of the cause of this. This was the only thing she said to me that brought tears to my eyes. I felt that my whole childhood was finally explained.

I asked Carrie to be a part of this series not because I was a child suffering a horrible illness but so that my story could possibly help just one child not have to suffer until they were an adult to get a diagnosis. There is no cure for Chiari Malformation, but there is hope that we can live long productive lives with the right treatments. The medical community needs education and research needs to be increased to help find those treatments for us. If you want to learn more about Arnold Chiari Malformation please visit the websites listed. If you do happen to know someone with Chiari Malformation, the best thing you can do is support him or her. Do not feel sorry for them but please show compassion. Chiari is an invisible illness to the outside world but it is definitely alive and not invisible to the person who has it.

Without my husband’s and family’s support throughout the years I may not have had a much different outcome. I am now 1-year post Chiari Decompression surgery and I can say I feel better than I have in many years. September is Chiari Awareness month; please take a moment to spread the awareness.





See a brother and sister's rare Chiari story here:

AJ and Alexa's rare story



These are the faces of Chiari!!!!!

Please read and SHARE! Be the AWARENESS! Chiari malformation- AJ and Alexa's (rare) story!



"I consider my kids to be very lucky. Not all Chiari Kids or Adults get diagnosed in a timely manner. Many can be misdiagnosed for years, leaving the patient with permanent deficits and issues. Some need to travel states away to find a doctor that can diagnose and treat them appropriately."

Meet AJ and Alexa!  These kids have had 25 surgeries between them already, but they are still smiling!!  These cuties have Chiari malformation, but they do not let it slow them down!  Learn more about Chiari below, and don't miss our other Chiari story: "Misdiagnosed until adulthood, a Chiari story".



Chiari Malformation:

Chiari Malformation is a neurological disorder that results in a disruption of cerebral spinal fluid due to the brain (cerebellar tonsils) descending down out of the skull into the spinal area.

Chiari is sometimes seen with conditions such as Spina Bifida.

Other terms for Chiari are: tonsillar ectopia, Hindbrain herniation.

Symptoms vary, but the biggest symptom are recurring headaches with intense pressure in the back of the head, which is made worse by movement and everyday things like coughing and straining.

Other symptoms include: balance problems, fullness in ears, and chronic pain.

Due to limited research funding, no Chiari genes have been identified so no genetic testing is available.  Originally, Chiari was not thought to run in families. Duke university is now doing a study on 100 families that all have 2 or more members with Chiari.

There is no cure for Chiari; however, surgeries can alleviate symptoms.  The most commonly done surgery is decompression surgery.

It is being discovered that Chiari is less rare than originally thought.  A conservative estimate states that 1 in 1000 people have Chiari malformation.  Finding a doctor who is able to correctly diagnose Chiari is still very rare.  THIS IS WHY AWARENESS IS SO VERY IMPORTANT!  



Read more about Chiari with these links:
Conquering Chiari

NIH





Our Chiari Story….



In 2004, when AJ was just three years old, he was diagnosed with both Chiari 1 malformation and Hydrocephalus.  The doctors told me that without treatment he may not live.  AJ appeared normal.  He was a very smart, happy toddler.  By fall that year AJ had already had 3 surgeries, and shortly after that, at just 12 months old, Alexa started to get sick.  During this time I was tested and confirmed a Chiari 0.  FINALLY I had some answers for my headaches, but it was nothing that could be fixed.  In the summer of 2005, Alexa was able to get her testing done, which resulted in her first surgery in New York.

AJ and Alexa have had a total of about 25 surgeries in the last 10 years.  Of those 25 surgeries, 18 of those were brain surgery for AJ, and 2 of them were brain surgery for Alexa.  




So what is Chiari? A neurological disorder where part of the brain, the cerebellum (or more specifically the cerebellar tonsils), descends out of the skull into the spinal area. This results in compression of parts of the brain and spinal cord, and disrupts the normal flow of cerebrospinal fluid (a clear fluid which bathes the brain and spinal cord). Brain surgery is NOT a cure, it is a treatment.


AJ, Alexa, and I stay in close contact with their Neurosurgeon so that hospital admissions are kept to a minimum and the kids stay as pain free and active as possible. While both AJ and Alexa have the same main condition they both differ in some of their secondary conditions. Because of AJ’s Hydrocephalus, he has had many more surgeries than Alexa and he is more cautious with his activities. I have been asked many times about “Why don’t you try to put your kids in a bubble?” or “How can you let them do those activities?” I think their surgeon is to thank for how active my kids do like to be. When this all started he asked me…. Do you want your kids to be as close to normal and happy as possible and do as much as they can, with some restrictions, and chance that they might need brain surgery or other surgeries again… Or do you want to completely restrict them, not let them be kids, have them hate their lives, and still have the chance that they will need more surgery? He told me that he would go along with whatever option I chose. I of course chose happiness.




AJ, now 14 years old, remains cautious and loves his video games, but he also loves being outdoors. He loves learning new things and strives to make everyone happy. He works hard in school and is an extremely smart kid.

Alexa, now 11 years old, is much more adventurous and is in her 2nd year of Cheerleading. She has also started running with Girls on Track and The Healthy Kids Running Series.




Do they have bad days? YES! Do they quit and say they just can’t do this anymore? NO! Alexa got sick before one of her runs last season. She took some medications, told me to get her out of the truck before it was her turn to run, and she ran the fastest time she had all season! I personally would have just gone home and went to bed instead! AJ will go thru an entire school day and wait till I get home from work, before I find out that he is really sick and needs to see his surgeon right away. These kids are tough.





I consider my kids to be very lucky. Not all Chiari Kids or Adults get diagnosed in a timely manner. Many can be misdiagnosed for years, leaving the patient with permanent deficits and issues. Some need to travel states away to find a doctor that can diagnose and treat them appropriately.





I encourage everyone to look up where their local Conquer Chiari Walk Across America site is located and check out some of these amazing kids and adults. This year the walk is held on Sept. 19th, 2015. You can look for a walk location, register to walk, or make a donation at www.conquerchiari.org If you are in the Lancaster area our walk will be at the Lancaster County Park Pavilion 22 on Saturday, Sept. 19th. Check-in starts at 10:30 and the walk will step off at noon. The walk is family (stroller) and pet friendly. We will have a DJ, face painting, kids crafts, and LOTS of raffles and food to purchase. We are only able to accept cash or check the day of the event but you can make donations online via credit card. AJ & Alexa’s team is called the Purple Minions so feel free to register to join them.




Find more information about the walk at:
http://www.conquerchiari.org/


and for our locals, here is our branch
Lancaster Chiari group


Dont miss our other Chiari story "misdiagnosed until adulthood".

Saturday, August 29, 2015

PLEASE READ AND SHARE!!!!! ---Sophia's story -- IMAGe syndrome (Adrenal insufficiency, skeletal dysplasia) BE THE AWARENESS- a rare series





"We need awareness for rare diseases.  We need awareness for Adrenal insuffiency! But more than anything we need acceptance, we all have quirks.  Embrace what is unique!!" 


IMAGe syndrome:

-Very rare, articles state there have been 20-26 cases.  (sidenote from Carrie: I believe there are more, just not diagnosed correctly.  As people and genetics teams become aware of IMAGe, more people will get correct diagnosis and lead to spikes in this number!  Also this does not include babies born after 2012-2013)


-IMAGe is an acronym:


I- Intrauterine growth restriction (IUGR) baby grows slowly before birth
M-Metaphyseal Dysplasia

A-Adrenal Hypoplasia Congenitia 
GGenital abnormalities in males                           
the "e" was just thrown on there to be fancy and make a word 

-IUGR causes baby to grow slowly before birth


-Metaphyseal dysplasia effects the ends of the long bones, and can cause the rest of the bone to be thin.  IMAGe can also cause scoliosis of the spine. (Sidenote from Carrie: Sophia's doctor describes her as having Primordial dwarfism since she is small in all stages of life beginning from before birth.)


-Adrenal Hypoplasia (under development of the adrenal glands) is a very rare form of Adrenal insuffiency (AI).  Usually infants present with an adrenal crisis soon after birth that leads to their AI diagnosis.  Adrenal crisis is life threatening and a constant concern with someone with AI.

-People with AI are dependent on steroidal hormone replacement.

-In the case of emergency, someone with AI needs immediate injection with life saving steroids.  Without this they can not trigger their "fight or flight" response that keeps them from going into shock.

-many with AI, including Sophia, "salt waste".  Salt wasters deplete their sodium through peeing and sweating.  Most people with AI need electrolyte replacement, and all need close monitoring of electrolytes (among other things)

-Adrenal insufficency is usually the most serious component of IMAGe requiring close supervision by endocrinologist and daily medication/replacement steroids.

-Hypercalcemia can be seen.  (Sophia did experience that.  I can not find a good explanation for this.)

-Is caused by a misprint on the CDKN1C gene.  CDKN1C, when functioning correctly, helps the body to inhibit tumor growth.  In an overactive CDKN1C it inhibits their growth, their adrenals growth, and target tissues.  --interestingly enough, an underactive CDKN1C causes an overgrowth syndrome!

-IMAGe can be inherited from both mom and dad, although if it is inherited from the father no symptoms are present and it is expressed as a carrier gene.  If passed from the mother the child will get the syndrome itself.  If you carry this gene, whether it is expressed as the syndrome or just the carrier gene, there is a 50/50 chance for each offspring have the gene also.

There are varying degree's of IMAGe.  There are quite a few other features not mentioned above.  To read more about IMAGe syndrome, see these links!!


IMAGe link

IMAGe link



other links

Adrenal Insuffiency United


Global genes org

National organization for rare disease



Sophia's story:






Most pregnant couples are excited to find out if they are having a boy or a girl during that "anatomy scan", as were we.  We had a gender party planned for the next morning.  My husband and I prepped, and headed for our scan, after of course chugging down a can of Dr. Pepper to "get the baby moving" so we could see his/her gender.  What we found out that day changed our lives forever.  If you would like more details on our pregnancy journey, you can read that story HERE --I had considered blogging her journey, but having a tiny newborn with AI was enough to keep together at the time!  

The whole pregnancy was monitored by our local team, and by Childrens Hospital of Philadelphia (CHOP).  Towards the end we were going into the Maternal Fetal Medicine practice 2-3 times a week for a weekly ultrasound and 2-3 stress tests/week.  One of these weeks, I had tried to cancel an ultrasound due to Bronchitis that swept through the family, but my MFM insisted I come in, thankfully!  At 33 weeks pregnant, my fluids were low, not measurable.

Sophia was born on May 13th, 2014 by emergency C section at 2 lbs, 12 oz and 14.5 inches long... and she breathed!  SHE BREATHED!  We were told she may not "expand her lungs" so her breathing was all I needed to get me through the crazy months ahead!!



The first year was crazy, starting with a 6 week NICU stay.  Sophia was discharged at 4 lbs, just a tiny thing!  The next few weeks were filled with so so many specialist appointments.  Sophia has doctors at Penn State Hershey Med center, and A.I. Dupont (Nemours) hospital, as well as her local ped, and a few other doctor's we've consulted in various locations.  It was a whirlwind at first!  It became our "norm"


Now, her care is routine.  She has several "medtimes" a day.  If she gets sick she needs more steroids (stress doses), or if she hurts herself badly, or is in an accident she needs injected with life saving solucortef.  We monitor for Cortisol lows, glucose lows and electrolyte imbalances.  The pharmacy knows us well, and the local labs do also.  It is our life now, and I would not change it for a thing!

Above all though, we are a family with a little sister who loves toys and ice cream!  Sophia's has a pretty normal life, and if monitored and treated properly, we hope to have very minimal speed bumps. She is a very strong little girl.  She inspires us!





Sophia has been such a blessing to our family.  She has taught us so much, lessons we may have never otherwise known.  She is a happy, sweet, clever, beautiful, bright eyed little darling. She brings a smile to everyone she meets!

When I was pregnant a sweet mother wrote to me "One day you will look back and wish you hadnt ever cried one tear over that baby" (words she passed down that someone had said to her) --and she was so very right.  So right.  wasted tears.  Sophia is perfect.  Absolutely perfect. 





We need awareness for rare diseases.  We need awareness for Adrenal insuffiency! But more than anything we need acceptance, we all have quirks.  Embrace what is unique!!  




Please share this story, especially to EMT's, paramedics and emergency personel!  The biggest fear with Adrenal insufficiency is emergency responders not knowing how serious immediate treatment is for AI!  There is only a short window of time to be injected with life saving steroids before the patient will go into adrenal crisis with shock like symptoms.  Links on Adrenal insufficiency below, AWARENESS SAVES LIVES!!

Adrenal Insufficiency

Sophia's facebook friends



Friday, July 31, 2015

BE THE AWARENESS- a rare series. Paisley's story- Alagille syndrome




"Paisley is in the biggest fight of her life.  She truly shines with her own light.  Just as in Matthew 21:22 says "And all things you ask in prayer, believing, you will receive".  We continue to do just that, believing in prayer, asking God for a miracle, for him to wrap Paisley in his arms and carry her through this blessing with complete healing and restoration"  --Courtney Walter, Paisley's mommy

Meet Paisley, our first story in our rare series!  Paisley has Alagille syndrome.  Alagille syndrome is a very rare syndrome, affecting 1/70,000 newborns.  The syndrome can affect many body parts including the liver, heart and lungs.  Paisley was born in September of 2014, and had her first open heart surgery at 5 weeks old.  Paisley is a beautiful happy little baby and I very much enjoyed getting to spend this time with her!!




Alagille syndrome:
-affects liver, heart, lungs and other parts of the body
-1/70,000 newborns
-50-70% of cases are new genetic mutations, 30-50% of cases inherit a gene from one parent
-often diagnosed on liver function, or a heart defect like tetralogy of Fallot
-symptoms have a wide range, from mild to severe
-distinctive facial features
-may effect growth

Here are a few links for more information on Alagille syndrome:

Alagille syndrome

Alagille syndrome - CHOP



Other links:

Global genes org

National organization for rare disease


Here is Paisley's story, told by her mom Courtney:

In May 2014 we found out we were pregnant.  At 20 weeks after a sonogram we found out we were having a girl, but with that we were also told they found cysts on her kidneys. I was extremely nervous and scared because at that point we didnt fully know the extent of her problems.  A week later I was sent for a second opinion in York where they also confirmed the cysts on her kidneys but they also noticed abnormalities with her heart, being also being small in size for gestational age.  It was confirmed she had what is called Tetrology of Fallot.  Genetic testing was suggested for both she and I, although she could not be tested till she was born.  Testing revealed I had a rare genetic disorder called Alagille syndrome.  We were then transferred to University of Maryland for the rest of my pregnancy care.  on Sept. 29, 2014 I was admitted to University of Maryland Hospital due to pre-eclampsia.  On Sept. 30, 2014 via c-section at 10:11am my 4 lb 3 oz, 17 in. long beautiful baby girl Paisley Mae Topper was born.  She was taken immediately to the NICU.  TOF babies are also known as blue babies due to the tint or blue complexion of their skin from the lack of oxygen in the blood.  At this point Paisley's Oxygen sats were running in the 70 percents.  She was too small for any surgical intervention.  Genetic testing on Paisley revealed she too had Alagille syndrome which many doctors are unfamiliar with due to it's rarity of 1 in 70,000 occurrences.  At 3.5 weeks old Paisley was transferred to Penn State Hershey's Children's Hospital to be closer to family.  On November 5, 2014 2 weeks after arriving at Hershey, Paisley had her first open heart surgery at 5 lbs and 5 weeks old.  They placed a patch on her pulmonary artery in hopes that it would grow and further down the road a full repair of her heart could be done.  She remained in the hospital for another 2 1/2 weeks, 5 days before she would turn 2 months old.  She would continue to be followed by Hershey's team of doctors and later would be seen and followed by Childrens Hospital of Philadelphia, or CHOP.  CHOP is one of the best in the world in knowledge and specializing in Alagille syndrome.  Paisley was set up at 7 mo. old for a feeding tube to be placed to assist her in gaining weight and growing.  Prior to that she would need to be cleared for surgery by her cardiologist.  During her Cardiologist appointment Paisley's Oxygen saturation's dropped down in the 80 percents.  They performed an echocardiogram where they found a blockage within the pulmonary artery of the heart.  Paisley's feeding tube surgery was placed on hold and a heart catheterization was scheduled for July 16, 2015 to see what they could do.  During the heart catheterization Paisley was noted to have an extremely small pulmonary artery along with all the major blood vessels and arteries throughout her heart and lungs.  The doctor came out of her heart cath to inform us of the findings while Paisley was in recovery and told us they could not do anything more for her and that her only hope was a heart and lung transplant but due to her Alagille's diagnosis she may not qualify to be put on the transplant list.  As soon as the doctor told me the news I started crying and was so devistated to the point I could not speak.  We are now waiting to hear what our next step will be.  Paisley may be small for her age, but she is just like any other 10 month old, ornery as ever.  She's such a happy baby.  She loves mini mouse club house and loves to eat, she wants what everyone else has and isn't afraid to make it known.  Paisley is in the biggest fight of her life.  She truly shines with her own light.  Just as in Matthew 21:22 says "And all things you ask in prayer, believing, you will receive".  We continue to do just that believing in prayer asking God for a miracle, for him to wrap Paisley in his arms and carry her through this, blessing her with complete healing and restoration.  


--Courtney Walter, Paisley's mommy
click here to go to Paisley's GO FUND ME page