Amanda – Texas

There are a lot of things I know about that I shouldn’t.  Most 32-year olds are not acquainted with the word Homocysteine and have no idea about elevated levels.  There are things you learn about when you deal with chronic illness and this is one of the many things I have learned about since being diagnosed with Homocystinuria.

Chasing Rabbits:   

   Neck Injury= Diagnosis of Homocystinuria?

The neck injury I had sustained while playing basketball was an unlikely catalyst for change.  When my minor injury didn’t get better I ended up in a chiropractor’s office.  My chiropractor was in the same office as my primary care provider and the two providers discussed my case.  Days turned into weeks and weeks turned into months.  My family was called into my PCPs office and he told us he wanted to rule out Marfan’s Syndrome.  I went for my first echocardiogram and it was unremarkable.  A few weeks later, we followed up and my doctor told us about Homocysteine and what it is.  Next, we checked my homocysteine levels for the first time.  When we got the results, they were very high and my doctor started working to find a geneticist to confirm the diagnosis of Homocystinuria.  I started supplementing with B-6 and B-12 while I waited for to hear about the next steps.

We waited and waited…  Fall turned into spring.  I was 17 years old and I was in my senior year high school when I had my first appointment with Genetics at Texas Children’s Hospital.  When I got there, I saw Dr. Vernon Sutton.  He took time to explain Homocystinuria to us and ordered more blood work to see where my homocysteine levels were at.  We waited some more and eventually the diagnosis was confirmed.  I had Homocystinuria.

A new diagnosis brought changes I hadn’t seen coming before my first appointment with Genetics.  When we found out I was not responding to B-6 I immediately I started taking Cystadane.  Not long after that I turned 18 and shortly after I was a high school graduate.  A few months later I started my freshman year of college

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Fast Forward:

  Unexpected Adventures in Burundi

They say the word safari is from the Swahili word journey and my trip time in Burundi had definitely been an adventure.  It had been a trip full of unexpected surprises and novel experiences.   The country was breathtaking with rolling mountains, and lakes that spanned as far as the eye could see, but it was hard to enjoy the scenery when dealing with an illness.  On a team of 25 people, nearly everyone got sick.  Our team was split into two groups.  One spent several days in Nyanza-Lac; the other spent their time in Makamba City the capitol of Makamba Province.  I was in the group that went to Makamba City up in the mountains.  As we were packing up to leave, I turned to one of the women on our team who also happened to be a nurse, and told her I felt sick.

About forty-five minutes later we were barreling down the mountain and I started dry heaving for the first time ever.  I didn’t know it then, but that was a defining moment.  After that day, it became almost impossible for me to vomit.  A few days later we left to go back to the States.  I was better, but I was nowhere close to 100%   When I got back I followed up with my PCP and it turned into a referral with a Gastroenterologist or GI- a type a specialist who trained in the diagnosis and treatment of diseases of the upper or lower intestines and/or liver.  A few weeks later I had my first endoscopy.  That was followed by more testing where I had a pH study to see how much reflux I was having and I also had an esophageal manometry because I was also having issues swallowing food.  I   soon learned that I had another condition called Achalasia were the lower esophageal sphincter does not   relax and open when I eat.  In February 2013 I met my thoracic surgeon for the first time and on July 2nd  I had my first Heller Myotomy and Fundoplication.

Finding Zebras:

  Infection or Something More?

 

 Unrelenting sinus pain is what brought me into the clinic.  When a Z-Pack and Medrol failed I found myself back in the same place.  The small exam rooms in my PCP’s office were becoming all too familiar.  I was starting to learn the names of staff members and by this point they were getting to know me too.  As I drove around town one day I thought about asking for a referral to immunology because I was concerned about the implications of being ill as much as I was.

A few months passed and the day of my first appointment with allergy/immunology finally came.  The doctor ordered some blood work and recommended immunotherapy in the form of allergy shots.  A few weeks went by and then I got a letter in the mail.  I opened the letter and saw that it was test results from my blood work that I had done following my appointment with allergy/immunology.  Of the tests that had been resulted everything was normal.   A few weeks later I woke up and started getting sick.  By the end of the day I had “gotten sick” over sixteen times.  I called my GI and spoke to the patient educator.  They ordered some tests to look for infections and the results came back saying I had Salmonella.  Not long after that I got another letter with more test results.  This time I got results from bloodwork to look at my Pneumococcal titers.  They weren’t anywhere close to where they should be so I received the Pneumovax vaccine.  About six weeks later we ran the same blood work to see what my response looked like.  When I failed the vaccine challenge I was diagnosed with Specific Antibody Deficiency, one of the many Primary Immune Deficiencies.

Some might assume I would have been upset at getting news like this, but it was actually much the opposite.  I was so relieved to have some answers to questions that had been unanswered for so long.  When I looked back I could connect the dots and how this deficiency had manifested in my life.  The failure to thrive when I was ten months old, the mono I had when I was two, the bouts of pneumonia I had in high school and college were most likely due to an immune system that was sorely lacking.

They Say It Takes a Village

  Everything is new before it’s familiar.  Feelings of fear are normal in the beginning.  That’s how it was for me.  I had made a bold choice in emailing another surgeon after my first Heller Myotomy and Fundoplication failed.  I knew that I needed to be seeking treatment for my issues swallowing or in clinical terms dysphagia.  Fortunately, I found a doctor who was kind and empathetic.  Empathy came easily for him because he had dealt with some of the same issues he treats.  Dr. Buckley was not only a surgeon; he was also a former patient.  Ultimately, he would not operate on me but he did refer me to his surgeon and colleague in Los Angeles.  It was a strange gift when everything worked out for me to go to USC Keck shortly after recovering from Salmonella.

Plans had fallen through and I was still weak from the infection.   When one of the nurse’s pulled some strings to accommodate me, I was so relieved.  A few weeks later I found myself in a novel situation.  I was in LA for the first time in my life.

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The morning of my first appointment came and I opened the door to the unit in Day Surgery.  Before I walked through that door I had been fine, but my body started to fill with fear once I walked through that door.  Due to scheduling conflicts I was by myself on this trip out to California and I was about to have a sedated procedure.  A few days later I met with my consultant’s colleague.  Over the next year I corresponded with

his staff and came to know them well.   I was starting to remember the faces of staff members at the hotel I stay at because I was going out there so much. In October of 2014 I had my second endoscopic dilation where they stretched my esophagus.  When that failed there was more testing and another medication my surgeon wanted to trial.  When that failed surgery was offered. In May 2015 I had a Redo Heller Myotomy and Fundoplication.

Finding Community

It was a cold February night when I first found community.  I was sitting in my car after driving back from a book signing in Austin where I had the opportunity to meet Keegan Allen who played Toby in Pretty Little Liars.  It was late and my mind was wandering.  I pulled out my phone and opened Instagram.  I then opened the search bar and for the first time I looked for pictures using #homocystinuria.  I wasn’t expecting to find anything, but when I did I was pleasantly surprised.  I commented on a picture that a mother of a patient posted and got a response within a few minutes.   She told me about the Facebook groups for Homocystinuria and I soon joined.   I had no idea how helpful these online communities would be, but in 2016 I realized how helpful and grateful I am for these groups.

On December 31, 2015 at 11:59pm my policy with Blue Cross Blue Shield of Texas became inactive.  My new insurance policy started and I assumed that everything would be okay.  I had no reason to believe otherwise.  The holidays were now over and stores were open again so I went to the pharmacy.  When I was expected to pay a large amount for my prescriptions I knew something was wrong.  I usually pay a copay for medications, but this time was different.  About a week later I ran out of my Cystadane.  When I called to refill my medication, I was told I would have to pay full price.  This was not doable so I went without. A new set of labs revealed that my homocysteine levels above 250 so not having a solution had been hard on me.   For the first time ever, this illness was starting to manifest in ways I could not comprehend and was made complicated because of other medical issues.

I searched for solutions wherever I could, but came up empty every time.  I started by contacting Genetics and remember being hopeful when I sought them out.  I called NORD and applied for their Patient Assistance Program.  I was hopeful again, but I was ultimately denied and then I was back to square one.  I tried to carry on the best I could and continued working while I was looking for a solution.  Things got a little more dire when I started having issues with peripheral edema, or swelling in my feet and ankles.  It was at this point that I realized I needed to continue to fight the best I could.   Earlier lab work done a few months before revealed that my homocysteine levels above 250 so not having a solution had been hard on me.   For the first time ever this illness was starting to manifest in ways I could not comprehend and was made complicated because of other medical issues.

In May I contacted the National Human Genome Research Institute, but after they failed to help me I considered other options.  I sought out the advice of another patient and heard about a generic that I could buy online.  I had never heard about this, but decided to try it because my cardiologist told me that the issues with peripheral edema were due to vascular issues.

You Gotta Fight

Through a search on Facebook I heard about the Every Life Foundation, and Rare Disease Legislative Advocates.  When I heard about the opportunity to speak at the In-District Lobby Days I took it and ran with it.  In my meetings with aides at the offices of Senator John Cornyn, and Senator Ted Cruz I shared my story about having to go without my medication.  It was through this opportunity that I had the chance to meet a parent of a child with another rare disease.  Having another person, I could connect with was so helpful.  I still keep in touch with this parent and am really grateful for the chance to forge another connection.

Months passed, and I was no closer to finding a way to get my Cystadane.  In October I arranged a meeting with Bill Flores, a US Representative who also happens to be on the US Energy and Commerce Committee. I shared my story with him, but I was no closer to having my medication when I left.  Soon after I started to search for a new health policy because United Healthcare was not offering health insurance to individual policy holders in 2017.  On December 31, 2016 at 11:59pm my policy with United Health One became inactive.

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Light in the Darkness

As I drove to the ER I listened to some music to help prepare me for what I was about to do.  Going to the ER by myself was difficult, but given the circumstances it was necessary.  On the eve of MLK this year I was admitted for observation because I was having trouble breathing again.  I wasn’t expecting to be admitted but in the end, it helped me get my Cystadane sooner.   In February, after thirteen months without my HCU meds I finally got my first shipment in over a year!  Things finally started to look up and I could spend more of my time focusing on other things.  In March I started taking a Certified Nurse Assistant or CNA class, and in October I started working as a CNA in long-term/rehab facility in North Houston.

My journey may look far different from others, but that is totally fine because everyone has a different story.  Mine has been one full of unexpected twists and turns, but I believe that these things have shaped me into a better person in the end.