Megan from Ohio
My name is Megan and for much of my life I grew up not knowing anything about Homocystinuria or even knowing such a thing existed.
Growing up, I was always the tall, thin girl in class. For class pictures I always knew I was going to be in the middle back row. From an early age I loved school but struggled to process information that I was being taught. I had to work hard to understand concepts and remember them. What took my peers ten minutes to do often took me a half hour and often a lot of repetition to fully comprehend. It was as if the information would go in one ear and out the other. My parents were always very supportive and with their help, the help of my teachers and my friends, I developed a love of learning that pushed me to always want to do and try my best. I was blessed by many wonderful teachers who inspired me to want to be a teacher, help children reach their full potential, and teach them skills on how to overcome their difficulties.
In 2014, I got married, moved to the Toledo area from Cleveland (in Ohio), and switched jobs. Everything happened pretty quickly and at the time, was a little stressful. During this time, I had met my deductible on my insurance, so I decided to do something my cardiologist and family doctor had been asking me to do for a while, get a genetic test done to rule out Marfan Syndrome. Silly me, I thought this would be a one and done kind of test. Being newly married, my husband and I really wanted kids, so I wanted to be careful and go into pregnancy safely. Little did I know it would take a total of three genetic tests and a year and a half before I would find out that I did not have Marfan Syndrome.
I still remember getting the call on my way home from work. I remember pulling over at a convenient store and the nurse telling me nothing on my test came back showing that I had Marfan Syndrome. What the test did show was that I had something called Homocystinuria. She then proceeded to tell me that she was going to connect me with a doctor from University Hospital (UH) in Cleveland that traveled to Toledo once a month so he could speak with me more about Homocystinuria. I am sure she said more, but all I remember was thinking oh great, this is not what I wanted to hear. I wanted to move on with my life and have a baby.
The day I met the doctor, my mom and I went to Big Boys for Lunch, and I got one of my favorite feel good meals at the time. This was a Big Boy with extra tartar sauce and fries (I have since found out the burger itself is 34 grams of protein, I clearly didn't know anything about limiting my protein). Needless to say, my protein levels for my first blood draw were extremely high, and my doctor had me meet with a dietitian and start drinking formula. Knowing that my husband and I had been wanting to have children, my doctor recommended either continuing my care in Cleveland or Michigan. Since both my husband and I are originally from the Cleveland area the choice to move back and have the support of family was not even a question.
Within a few months, I was fortunate enough to find a wonderful job teaching kindergarten at a small private school in the Cleveland area. The staff and principal have been beyond understanding and supportive of my condition. However, once I moved to the Cleveland area my insurance changed and the medications I was easily getting from compounds no longer were covered by my new insurance. I also felt my doctor, who encouraged me to move to the Cleveland area and knew we really wanted to start a family, became stricter about getting my levels under control before having a baby. He needed me to prove I could lower my levels. This condition I had only recently found out about had turned my life upside down and became a big stumbling block to where I wanted to be. I started wondering if I was ever going to be able to have children and watched as many of my friends started having families of their own. In addition to being stricter, my doctor at the time, also refused to work with my doctors at the Cleveland Clinic. I felt trapped. I loved my doctors at the Clinic and already had relationships with them. I trusted them, and they never once made me feel bad like this doctor was starting to make me feel. Even now I feel terrible going into this part of my story, because I really wish this wasn't the case.
Around this time, as I was feeling children were not going to be an option for me because the life changes were so drastic and seemed almost unattainable is when my mom told me about HCU Awareness and support groups on Facebook. Shortly after I joined, Danae had asked members to share which clinics they went to so she could send out information about the group to doctors’ offices. I saw that one of the members went to the Cleveland Clinic, which I inquired more about. (When I first came back to Cleveland I was told that there wasn't a doctor I could see at the Clinic.) I found out that there was, in fact, a very knowledgeable Genetic Specialist that worked at the Clinic, and for the first time since moving back, my husband and I felt hopeful. I wouldn't have to change all my doctors to move to UH (just to be clear, I have nothing against UH, I just always went to Cleveland Clinic and it was where I was comfortable).
To make a long story short, my husband and I decided to put things in God's hands, and I left my doctor at UH and started to see my Genetic Specialist at the Cleveland Clinic, who graciously decided to take me on around the time I got pregnant with our son. During the whole process I prayed every day and got weekly blood draws to monitor my levels. My new doctor is so thorough, and I am beyond blessed to have him as my physician. He went above and beyond to make sure I had a healthy pregnancy and was in constant communication with my other doctors. There are truly no words for how grateful I am that God put him in my family’s life!
On September 25th of this year it will be a whole year since we had our son. He was born weighing 6 lbs. and 14 oz, just perfect. The process to have him was by no means easy, and after having him I had to be in the hospital for a week to monitor my levels, which skyrocketed at first, but I had no serious complications with the pregnancy otherwise.
I would love to tell you that since the pregnancy I have my levels under control and that life is perfect, but reality is it’s still a struggle every day. I hate the formula and though my doctor wants me to have three a day, I can only usually tolerate two. In addition, in December, I went to pick up my three month old son and felt a pop in my back. I had a lot of pain afterwards. My primary doctor ordered x-rays, which showed low bone density and fractures in my spine. My Genetic Specialist ordered a bone density scan, and I found out that I have very low bone density and osteoporosis. I spent much of my summer in Physical Therapy, and I am still waiting for insurance to approve medication to rebuild my bone, which has been denied twice now, because I am not in the targeted age range for the medication.
Once again, I would love to say that life is good, but it’s a daily struggle. I am not going to try to sugarcoat it. I've never been good at faking that. All I can do is thank God for my blessings. I am blessed to have a Mom who comes to many of my appointments when my husband can't get away from work. She helps with my son and is always trying to find recipe alternatives I can have so I can feel full. She is my biggest supporter by far, and I don't know what I would do without her. I am thankful for my husband that even as I am writing this is taking care of my son and making sure I take my shakes and occasionally makes them for me. He was my rock while I was in the hospital after having my son and through the recovery process, putting my needs above his own and making sure I had everything I needed. I am also thankful for my sister and dad, who love both my son and I, and are our biggest fans and supporters. Lastly, I am thankful for my coworkers and principal as they support me through my good days and bad. They always offer understanding and support when it comes to the challenges with my health and what I need to do to remain healthy. I truly feel blessed and thankful to have a healthy baby boy that I get to watch grow each day. Being a mom is truly a gift from God and the answer to my prayers. It inspires me to be a healthier me, while learning to live as a person with homocystinuria.