Friday, January 18, 2019

HCU Heroes - Update on Xander and Max

I'm thrilled to share that Xander and Max from Barnsley, South Yorkshire, UK are back as part of the team of HCU Heroes for the 2019 Miami Marathon!  When I first shared their story, the Tattersall family was just beginning their HCU journey.  My how much has changed in the last few years!


In the UK, where the Tattersall's live, they didn't screen for Homocystinuria at birth until recently.  As a result,  Xander (age 12 ) and Max (age 9) weren't diagnosed with HCU until August 9, 2013 after Max was in epileptic status.  His neurologist just happened to check the right box on a series of blood tests which lead to their diagnosis.

Both boys had experienced learning and behavioral difficulties for a few years prior to diagnosis.  They were both discovered to be B6 non-responsive.

Upon diagnosis, the boys started treatment with a low-protein diet as well as formula containing amino acid supplements.

One unusual side-effect of the treatment is that the boys' hair changed from blond to dark brown, as HCU affects pigmentation.

Here's Xander before treatment:



And here's a photo of the boys after starting treatment (Xander on the left):


Fast forward to 2019, HCU is now listed on the newborn screening tests in the UK!

Xander and Max's Mom, Sophia, reports that the boys are going from strength to strength, but Max has given them a few grey hairs along the way.  He has had 3 very serious stays at Sheffield Childrens Hospital due to complications, one of which was a perforated gall bladder.  Max is now on a new epilepsy medication as the complications were most likely caused by the previous epilepsy medication.  He's doing amazingly well.

Xander just had his first eye surgery, removing his detached lens in his right eye.  He is recovering well and now awaiting surgery on the left eye.


If you'd like to make a donation to HCU Network America in honor of Xander & Max, or another HCU Hero, please stop by my fundraising page for the 2019 Miami Half Marathon:

Krstin's Fundraising Page for HCU Network America


Thursday, January 17, 2019

HCU Heroes - Alexa's Story

I met Alexa's family at last spring's HCU Conference in Boston, and I was very touched by their story.  Alexa's Mom, Erika,  started noticing something was wrong with her when she was 2 years old.  She wasn't reaching the normal milestones, but it wasn't until she was 4 years old that they received the official diagnosis of Homocystinuria (HCU) due to her dislocated lens.


At that point she began treatment.  Alexa is now 19 years old, but she is mentally challenged with the mind of a 4-5 year old.  Her family continues to seek better treatments for Alexa.


I'm thrilled to dedicate one of the Miami Half Marathon miles to Alexa, and I'm also hoping to meet her while I'm in Miami as that's where she and her family live!  I've been exchanging Facebook messages with Erika and we hope to reconnect while I'm in town for the race weekend.  Stay tuned for an update after the race!

If you'd like to make a donation to HCU Network America in support of Alexa or another HCU Hero, please visit my fundraising page for the 2019 Miami Half Marathon.

Kristin's Fundraising Page for HCU Network America

Wednesday, January 16, 2019

HCU Heroes - Nathan's Updated Story

Nathan, was born with HCU, but was not diagnosed with the disorder at birth.  Fortunately, he is B-6 resposive - meaning his levels can be controlled with high doses of B vitamins, but it wasn't until he started developing eye problems that he was tested for the disorder, and began treatment.  I'm thrilled to have my Canadian friend back as part of the HCU Heroes and look forward to running a mile for Nathan at the Miami Half Marathon!


Here, Nathan's Mom (Marian) reflects on his HCU Journey:

Nathan was diagnosed with Homocytinuria when he was almost 7 years old.  Unfortunately, Ontario didn't start newborn screening until 2006 and Nathan was born in 2005.  A routine eye exam was held at his school and a note was sent home to say that we should have his eyes checked.  We took him to see an optometrist and as soon as she looked into his eyes, she quickly referred him to see an Ophthalmologist.  I noticed for quite some time that Nathan’s iris's “jiggled” or “rippled” when he moved them and I knew it wasn’t normal, so I mentioned that to the ophthalmologist. She did some tests and told us that both his lenses have dislocated and wanted us to see a cardiologist and geneticist. She said Nathan may have Marfan’s Syndrome or another connective tissue disorder.

His father and I were in shock and very concerned because we were told this would affect his entire body and could potentially shorten his life. He had an echocardiogram as they thought he had a murmur, but it thankfully came back normal and then he had genetic testing at Sick Kids hospital in Toronto. It was a long 3 month wait for the results to come back. March 2012 we got the diagnosis..Nathan has Classical Homocystinuria. His father and I were terrified...we read so much about HCU and saw some very grim statistics. We had no idea what this disease was going to do to our son, especially since he was diagnosed so late. The doctors told us that this was a very rare and serious and said Nathan could have a heart attack, stroke or seizures and he is very prone to blood clots.

His blood and urine were tested and his homocystine levels came back at 300 (normal is 4-14) and his methionine levels were over 400. His doctor immediately had him start taking high doses of vitamin B6 and then eventually vitamin B12, folic acid and Betaine. Luckily Nathan is responsive to these meds, so he doesn’t need to follow a metabolic diet, but he will always have to limit his protein intake as his body is missing the enzyme to break it down properly. Looking back from when Nathan was a year old, his father and I knew something wasn’t right with our son. When Nathan was 6 months old, my sister and I witnessed him having a small seizure. It was about 5-10 seconds in length but it was enough for me to take him to emergency. Waiting for 3 hours with a crying baby then being told by the doctor that it was nothing, was completely infuriating..I knew somthing was wrong!

As time went on, Nathan was behind with walking and learning and had many sensory issues. We took him to his pediatrician, begging him to help us figure out what was wrong with Nathan. We had him tested for many things but all came back negative. He saw a speech-language therapist to help him with his comprehension, he also saw an occupational therapist for his fine motor skills. He had an x-ray for knocked knees and saw a specialist because he had problems with drooling when he was 4. All of these things were because of Homocystinuria! If we only knew then what we know now, he wouldn’t have had any of these problems!

We were told by Nathan’s ophthalmologist, that Nathan wouldn’t have to have surgery until he was into his teen years, but his vision continuously declined and his lenses were almost completely detached. We had to wait 3 months for the Ontario Government to approve the lenses that his Dr. wanted to use on Nathan, so finally in June, 2013, he had a 3 hour surgery on one eye and again in July on his other eye. Before his surgery, his vision was 20/80 in 1 eye and 20/120 in the other eye. Today they are both 20/40 and he wears progressive glasses as his eyes can no longer naturally focus.


Since his diagnosis we had a few trips to the ER for chest pain and shortness of breath..all thankfully came back ok! An eeg was done when he was 9 because he had alot of myoclonic jerking at night. The neurologist that read the eeg diagnosed him with epilepsy as he had epileptiform activity and was going to start him on anti-seizure medications. I asked for a second opinion so he had 2 24hr eeg's done at Sick Kids hospital over the next 2 years, both with abnormal waves but not epileptiform so we were told just to watch for any signs but he may never have a seizure! 


Nathan has improved immensely with his sensory issues and learning, not to mention his overall health. We see amazing changes with our son. Nathan is now 13 years old and loves playing hockey and downhill skiing and will continue having blood tests, eye exams, MRI’s, echocardiograms and other routine tests throughout his life, but we know with the help of his doctor’s, Nathan will enjoy a long happy life!


 
If you'd like to make a donation to HCU Network America in support of Nathan or another HCU Hero - please visit my fundraising page for the 2019 Miami Half Marathon:

Kristin's Fundraising Page for HCU Network America

Monday, January 14, 2019

HCU Heroes - Leah's Updated Story

Leah was part of the team of HCU Heroes for my 2014 Boston Marathon and I'm thrilled to dedicate another mile to her in the 2019 Miami Half Marathon! 

Leah was diagnosed with HCU as a newborn in the state of Alabama, and started treatment as a baby. She is B6 non-responsive and has both a CBS definciency and MTHFR mutations. I'm happy to share that Leah is doing amazingly well. She currently shows no outward signs of the disorder. She is a happy & healthy 10 year old, and the perfect example of why mandatory newborn screening is so important!

Here her mother, Sabrina, reflects on those first months & years after her initial diagnosis and gives us an update on how Leah's doing now:

 
I was sifting through some old papers, trying to find a lab slip for Leah. I just happened to pick up the reports that came to us from Denver. "Genetic Mutation" had meant nothing to me until Leah was born... I didn't even know what one was. 

A huge flood of memories. 

Her perfect little round head, her tiny helpless body. She laid in that giant "childrens" hospital bed and there was nothing I could do. Loads of needles, IV's, and medicine... bruises on every bend on her upper body. What could I do? Pray? Yes, I did that, daily. From the time she was born, but it seemed my prayers had fell on deaf ears. Why would God allow my perfect little (and only) daughter go through all this? 

 
There are some things that the human mind can not grasp.

I had asked God over and over to heal her. I had fasted and prayed, until my husband, Darrell, thought I was going to wither away to nothing. I had cried. Heaping, sobbing tears. I even questioned. Why? Why would he allow this to happen? Why?

Over the next few months life was filled with doctors, diets, protein guidelines and more.

I worried if the list of things the "genetic team" had given her would ever end. I worried what I would do if she got sick. I wondered how I would handle all the stress that came with just normal childhood colds. I had worried about what my daughter would eat. I worried about if she would get picked on in school. I thought about how her brothers would view her. How I would view her. And... I worried about if she would live a full life. I wondered if she would get married and have a family. There were so many things that swarmed through my head for those first few months of her life. I would sit in bed and watch her sleep. I would almost always cry. Life was hard... I thought life was very hard. And I still had questions that I thought needed to be answered. 

Days turned into months, and months into years. We were told Leah would never be able to tolerate more than 3 grams of protein a day. We were told she could develop blood clots, brain damage, that she wouldn't meet milestones "normal" kids reach. That the lenses of her eyes could dislocate and she could go blind. That she could develop heart disease and heart murmurs. That the valves in her heart wouldn't grow and pump they way should. Devastating. 

 
But, after her first tooth, first steps and first birthday party, she was developing wonderfully. Her heart was normal, her eyes were normal. There were no signs of that nasty disorder, Homocystinuria. 



Three grams of protein turned into 5. Five turned into 10. Ten turned in to 12, then 15, then 20.... It kept getting better and better. 

 
Today, Leah is up to 35 grams of protein, and is proving all her doctors wrong. She has no signs of HCU. Her outward appearance is completely normal. You could never look at her and think something deep inside her was wrong.
 
Leah is very competitive and loves sports, of all kinds!! She plays basketball and swims now.
 

She also loves cooking and baking! LOVES baking. She’s going to be a professional baker. I can feel it.

Leah’s allowance hasn’t changed in 5 years. She’s been at 35 grams since she was 5. She is now taking formula, up until 2017 Formula wasn’t necessary. It seems to be helping quite a bit. She is still (to our knowledge, based on the last statistics released), the last child born in Alabama that was positive for Homocystinuria. We have good days and bad day, but she is a pro at adjusting her feelings when needed. There are days she wants to know why she was born with HCU and there are some days she feels special because of HCU, but most days are gentle a combination of both.
She counts her own food now and is responsible for taking her medication (with supervision, of course).
Most importantly, she is growing into a beautiful, healthy, well rounded tween girl who adjusts well to the things that life throws at her. She is so grounded and I look for her to do big things as she grows.


Leah is a walking, talking miracle. Yes, very thankful indeed!

If you'd like to make a donation to HCU Network America in support of Leah, or another HCU Hero, please stop by my fundraising page for the 2019 Miami Half Marathon:

Kristin's Fundraising Page for HCU Network America 

Sunday, January 13, 2019

HCU Heroes and an Angel in the Outfield - The Edwards Family Story


The following heartfelt blog post was written by Amanda Edwards about her sons Gavin and Zakie. Tragically, Zakie passed away a few months ago due to complications of HCU.  He was just 8 years old.  My heart goes out to this family and I'm extremely honored to dedicate one of my miles to Gavin and one of my miles in memory of Zakie.  


My name is Amanda Edwards and I have four wonderful boys and two of them were diagnosed with HCU in July of 2016.  We found out when Gavin went for his annual eye exam the end of 2015 that his lenses had dislocated and just a month after that we took Zakary for his annual eye exam and found out that his lenses were also dislocated.  They referred us over to a geneticist at Brenner Children’s Hospital and that is when we found out that they had HCU.  The geneticist at Brenner’s wasn’t experienced in HCU so she sent us to UNC Children’s Hospital to see Dr. Lori Smith.  When she did blood work and got their levels back they were both over 300.

We have battled constantly with their levels due to having a hard time with adjusting to the food change and the medicines since Gavin was 10 and Zakary was 5 when they were diagnosed they didn’t take well to the formula and diet change.  In March of 2017, Zakary was sent to Nationwide Children’s Hospital in Columbus Ohio to have his lenses removed and artisan lenses put in place, in August 2017 Gavin had the exact same surgery.  In total we had to make over 20 trips in a year. 
Then in July 2018 Zakary had an accident at home playing with his little brother and got one of his lenses knocked lose so we had to make an emergency trip to Ohio to have another surgery to repair it.  After these surgeries the boys made 100% turn around with their vision before their surgeries they both couldn’t see the 20/400 letter with glasses and after their surgeries they both could see 20/30 and 20/40 without glasses! We were so excited of the progress that both the boys were making their levels were slowly coming down and everything was looking up for them. 


Then sadly on Thursday October 19th of this year Zakary had just finished playing his baseball game and about 2 miles from the ball field on the way home Zak told me he was going to  be sick so I pulled off the side of the road and he got out, he never got sick and got back in the car and started jumping up and down and had tears rolling down his face and told me to call the doctor, I got him back out of the car and his was breathing really fast and still jumping and crying I look over at him and his face had turned blue we both went down.  My husband Brian pulled up right after that and started CPR a nice man had stopped to help me and told us to take him to the fire department which was about a mile from us.  Brian loaded him in his truck and we took him to the fire department he had already went limp again so he started CPR on him again I finally got the firemen out there to help us and shortly after that the EMS arrived and took over. While in the ambulance, the paramedics lost him for 15 minutes while on the way to the hospital.  Once they made it to the hospital they had finally got him stabilized and things were looking ok then he started having continuous seizures that they couldn’t get under control, the first few days everything was looking good his brain wasn’t swelling and his eyes were still reacting he was out breathing the ventilator.  Then Saturday came around and he still wasn’t waking up and nothing was really changing, the doctor called us into a small room and told us that things weren’t looking good and that we most likely would be going home without him.  We tried to stay positive because we knew the only person that could tell us that he wouldn’t wake up was God.  Saturday night came around and they did another CT scan and his brain had swelled so bad that you couldn’t even make it out it was just solid white.  Monday his eyes stopped reacting and that is when we knew things weren’t looking good.  On Wednesday October 24th 2018 our precious Zakie left us to go play Baseball with the angels in the outfield. 


It has been almost 3 months now that he gained his angel wings and it still feels like a bad nightmare that I’m going to wake up from and see my little boy running at me with arms opened wide and that big smile saying mommy I love you and giving me one of his big bear hugs. The hardest thing for me is that I will never get to cheer him on at his baseball games (which were his life), I’ll never get to see him graduate high school, I’ll never get to see him get married or have children.  Our community has been a wonderful support and it just shows how many lives that our sweet angel touched.  We have had so many people to tell us that they had only met him once but that he had made such an impact on them.  He had a pure heart and loved everyone no matter your flaws he never saw anything wrong with anyone.  When we were at church he would always be the first person behind you if you went to the alter to pray and he always put everyone before himself.  His 3 brothers have taken it really hard especially his little brother, Hunter, he was his best friend they did everything together. Hunter talks about Zakie everyday,  no matter what.



Needless to say our journey with HCU has been very traumatic and I pray that I won’t have to ever deal with something like this again but knowing that Gavin also has HCU scares me to death because we never know if something like this is going to happen to him also.  The only thing we can to is to work harder at getting Gavin to follow his diet and take his formula like his is supposed to.  I do believe that if we would have found this on their newborn screening it would have been a lot better for both of the boys in many ways.  First, they would take their formula without having as many problems because they would be used to it and second, the diet wouldn’t have been a big issue because they wouldn’t know any different. 
This has been a long journey in just a little over 2 years and I would have never guessed that we would have had so much to go through in such a short time.  I just pray that they will be able to find a way to catch HCU better on newborn screenings so that it gives the children a better chance of life.  Both Gavin and Zak had several side effects from not finding out until they were older, they both have a severe learning disability, they both had to have the eye surgery, Zakary had a mild case of scoliosis and they both had several behavior problems from it.  
This letter has been very hard to write but I know by telling our story that we may be able to help another family from having to go through what we have been through.  To read more about the Edward's Family story, you can click on the following link: thomasville-parents-mourn-loss-of-8-year-old-son-who-had-rare-genetic-disorder

If you'd to donate in honor of Gavin or in memory of Zakie, please click here: Kristin's Fundraising Page for HCU Network America


Saturday, January 12, 2019

Checking In - Happy New Year!


Happy New Year!  I hope your 2019 is off to a great start.  I thought I'd fill you in on a few of my goals for this year & give you a long overdue update on my progress for Miami.  It's hard to believe the race is just 2 weeks away!

First, let's discuss goals.  A few years ago, I began a New Year's tradition of picking one word to focus on every day all year long.  This has served me well, rather than trying to keep multiple resolutions.  In 2017, my word was "Nourish".  In 2018, my word was "Transformation".  And my word for 2019 is "Fearless". 


I'm fairly excited about my 2019 word and have already started implementing it into my daily life.  Check out my vision board:


That being said there's another word that keeps popping into my head as I think about my goals for this year.  That word is "Consistency".  I aim to be more consistent in my running, following my HCU diet, and my blogging.  So, I guess I have two words this year!


I'm already off to a good start.  To kick off my year, I signed up for the Zooma Love Run Challenge.  The challenge is a commitment to run or walk a minimum of 1 mile or 15 minutes everyday from 1/1 to 2/14.  I'm now 12 days into the challenge and I'm happy to report that I've maintained a perfect record.  In recent years, I've been inconsistent with my running.  I'm hopeful that starting the year off with this run streak will help make running more of a habit again.  If you'd like to join me, there's no rule to say you can't start your own running streak.  Why not start today!


In addition to the running, I've been consistent in maintaining my food logs - recording my protein intake and my formula.  The food logs have always been helpful in keeping me on track with my HCU diet.  I've been focusing on eating a variety of veggies. To keep things interesting, I signed up for my first delivery from Hungry Harvest which is a farm to doorstep produce delivery service.  (Finally a food delivery service that works for my low-protein lifestyle!)  This fantastic company is on a mission to end food waste and hunger.  Every delivery rescues as least 10lbs of fruits and veggies from going to waste and costs 20-40% less than the grocery store.  Here's a pic of my first shipment which I've already put to good use:

 
 
Now, onto my Miami update, I have good news and bad news.  Let's get the bad news out of the way first.  Unfortunately, my training took a bit of hit during the holiday months.  I'll still be running in Miami, but I decided to downgrade to the half marathon distance.  I hope to run a full marathon this year, but if I'm being honest with myself, I need more training under my belt before I tackle that next 26.2.  The good news is that (thanks to many generous donors) I've already raised over $5,000 for HCU Network America and I'm more than halfway to my goal of $10,000.  If you'd like to help my reach that goal, click here: Kristin's Fundraising Page - Miami Half Marathon
 
Also, over the next two weeks, I'll be posting some amazing stories of HCU Heroes.  I'm so excited to share with you what truly motivates me to keep running, pursuing better newborn screening, dietary treatments, and hopefully a cure for HCU.  Stay tuned - 2019 is going to be a great year!
 

Monday, November 12, 2018

Guess Who's Back...Back Again!



It's been over 2 years since my last post, but I've decided to revive the blog as I will be running another marathon in January.  More on that later, but first, I thought I'd do a quick trip down memory lane. 

During my last blog post, I mentioned the Hartford Marathon.  Well, I did make it to Hartford, but opted to run the half marathon distance (instead of the full) with the Running for Rare Disease Team.  Based on where I was with my training at that point, it proved to be a smart choice to downgrade from the full marathon.  I enjoyed my stay in Hartford and hope to make it back one day to complete the full marathon distance.  Here's a photo from race day in Hartford:


  
My next stop was the NYC Marathon, and it was truly epic.  The course and crowds were amazing.  I was thrilled to cross this race off my bucket list and to raise much needed funds and awareness for rare diseases.  Here's a few of my favorite photos from the race weekend in New York:
 

 
It was difficult to top the NYC Marathon, BUT, I managed to do just that.  In the fall of 2017, I travelled across the ocean to Ireland and completed the Dingle Half Marathon.  This race was by far the most scenic race I've ever run and remains one of my all time favorites.  After running through the Irish countryside, as a bonus, the race ends at Kruger's Pub!  If you're thinking about a destination race, I highly recommend Dingle.  Here's a few photos and a video of the course to give you a taste of this experience: 
 
 
 
 
Fast forward to 2018, I haven't done much racing this year, but I did participate in a local event this past spring, the Frederick Half Marathon.  The Maryland flag themed race swag gave this half marathon a hometown feel, and I will probably be back to run the course again.  Here's a post race photo from Frederick:
 
 
 
So, now that you're up to speed, you may be wondering what's next for this rare runner.  Well...
 
 
This winter I'll be escaping the cold weather and heading down south to complete my 13th full marathon in the sunshine state - next stop - the 2019 MIAMI MARATHON
 
 
 
I've set an aggressive fundraising goal this go around - I hope to raise a minimum of $10,000 for HCU Network America.  Stay tuned for more updates as I prepare for this next adventure!
 
If you'd like to make a donation to HCU Network America, please stop by my fundraising page for the 2019 Miami Marathon: