My name is Kristin.Â Iâ€™m an avid runner and also a patient living with a rare disorder called homocystinuria (HCU).Â Â
My journey started 34 years ago when I became the first person in the state of Maryland to be diagnosed with homocystinuria following the start of mandatory newborn screening.Â Â My parents, Bill and Cathy, were both shocked and concerned when they received this news.Â My pediatrician, who was trying to answer my parents concerns, took out the medical dictionary and looked up homocystinuria.Â There was only one paragraph on the disorder; however, he assured my worried parents that the genetics clinic at Johns Hopkins was well equipped to handle metabolic disorders. Â Â Â
What is homocystinuria?Â
Homocystinuria is a rare metabolic disorder affecting the bodyâ€™s ability to breakdown an amino acid in protein.Â Â This results in high levels of homocysteine building up in the blood, and can cause some serious medical problems. Â Â About 1 baby is 300,000 is born with HCU.Â Â Â
The doctors at Hopkins told my parents of the 4 major complications of homocystinuria:
- Nearsightedness & dislocated lenses of the eyes which can severely impair vision.
- Scoliosis (curvature of the spine)
- Mental retardation
- Blood clots are the most serious complication.Â Without treatment, one fourth of patients with HCU die as a result of thrombotic complications (heart attack) before the age of 30.
There is no cure for homocystinuria; however, many people are treated using high doses of vitamin B6.Â I am B6 non-responsive, and have a more severe form of HCU. Â When I was a baby, my doctors at Hopkins told my parents that treatment by diet was still considered experimental, but that they were extremely optimistic.Â They started me on a low protein diet supplemented with a formula.Â As I got older, they added to the diet a medicine called betaine.
Growing up with HCU:
I feel very blessed to have had such wonderful, loving & dedicated parents who along with my doctors at Johns Hopkins closely monitored my diet in my formative years.Â I will also sheepishly admit that I did not make it easy for them.Â The diet is very strict, and I would often try to eat things that were not allowed.Â A person with HCU shouldnâ€™t eat meat, eggs, cheese, fish, and many other foods that are high in protein.Â On top of that, there is the formula which is not pleasant tasting, but is necessary for proper growth & development.Â To compound things, when I eat something Iâ€™m not supposed to â€“ letâ€™s say a slice of pizza â€“ I donâ€™t feel sick in any way.Â HCU is not like a food allergy or diabetes, where eating the wrong food will result in an immediate physical reaction. Â This makes it is very difficult for a child to understand.Â I often felt it was unfair that my brothers & classmates could eat things like pizza, hot dogs, ice cream & cake.Â Â My parents had to learn the fine art of making me feel special, but not different from my peers.Â Â Â
Aside from my special diet, growing up I was like any other child my age.Â Â I participated in a variety of activities including ballet, gymnastics, basketball, softball, & girl scouts.Â I was above average in school, and attended several summer camps for gifted and talented children.Â My parents taught me an important lesson early on â€“ that although the diet limits what I can eat â€“ that doesnâ€™t mean it should limit what I can do.Â
Â Connecting the dots:
Iâ€™m happy to say the diet has been successful & I have never had a major complication of the disorder.Â Throughout my life, I have never let HCU define who I am.Â My parents did such a great job in maintaining my diet and making me feel â€œnormalâ€ while growing up â€“ that I sometimes forget I have HCU.Â However, this is not something that goes away as you get older, and I canâ€™t deny that HCU is a part of my life.
Last year I had the opportunity to meet some other patients with my genetic disorder at the first ever homocystinuria conference in Denver.Â I had never met another person with HCU until that conference, and as I looked around the room, I realized how lucky I am to have been diagnosed and treated for HCU at such an early age.Â I was overcome by emotion listening to everyoneâ€™s stories, and I came away from the experience with a desire to do something to impact others living with rare disease & their families.
I got into running a few years ago.Â My love of running started with the Broad Street 10 miler in Philadelphia.Â The thing I remember most about that race was the expression of pride on my parentâ€™s faces when I crossed the finish line.Â That was the only race that my Dad, Bill, ever got to see me run.Â He was diagnosed with cancer in 2007, and passed away in September of that same year.Â After his death, running became an outlet for dealing with that difficult time in my life.
Since then Iâ€™ve completed several races including 3 half marathons, 2 century bike rides, and last fall (inspired by the stories at the HCU conference) I completed my first full marathon.
After the marathon I started thinking of ways I could connect my passion for running with my desire to help others struggling with rare disease.Â While doing some research on the internet, I discovered the Running for Rare Disease team.Â On April 16th, this group of dedicated Genzyme employees will be running in one of the most prestigious races in the world â€“ the Boston Marathon.Â They will be representing 10 different rare diseases.Â I am thrilled to be participating with them as a patient partner to bring awareness to HCU and other rare diseases.
Each runner is paired up with a patient partner, giving them an opportunity to connect with someone who lives with a rare disease.Â Last week I had a phone conversation with my Genzyme partner who will be running the marathon in my honor. Â Â Although, he doesnâ€™t know this yet, for me things came full circle when I learned his name because itÂ is the same as my Dad’s.Â Â Good luck on your race Bill!
Thank u for sharing! I am in Australia and my 5yr old was the first diagnosed with hcu in Victoria 🙂 he is doing well and too so far hasn’t had any complications. It is inspiring to read your story xxoo kathy
I’m curious as to what year your son was diagnosed, as I too am from Victoria Australia and I was diagnosed in 2008. 🙂
The ability to overcome your struggle has defined what a wonderful hero you are today !
Reading your story I felt, for the first time ever, that someone understood my son’s life and challenges. Although your disease and his differ in name and symptom the diet and restrictions are very similar. I am so relieved to see how successful your life has been as I question the future all the time. Never feeling normal-if there is such a thing, can be hard for children. I can’t wait to share your story with him. He is seven.
Happy Rare Disease Day!
Your post is inspirational. I am in awe of you on how you deal w/ your illness. I look forward to running w/ you.
Thanks for sharing your story Kristin; I was thrilled to read you completed the magic 26.2 mile run despite your illness. Good luckâ€¦ Happy running.
Your story gave me goosies, Kristin, especially when I read that your Dad and my boss (your partner runner) have the same first name. What a coinkidink, as my nieces used to say. Congratulations to you on overcoming and learning to live with your medical issues and cudos to your parents as well for taking such good care of you in those crucial early years. Thanks for letting us be a part of your life.
Hi there…what a wonderful inspiration you are!
Our beautiful son has a very rare & serious metabolic condition with similar consequences to your own & myself & my husband are living the footsteps of yoyr parents…what a lift it gave to my heart today to get a glimpse of the future ..well done you but especially well done to your parents,only those directly involved would ever understand what you go through!!
hi and homocystinuria.
Loved reading your story. My baby was diagnosed at 6 weeks old. She is now 10 weeks. I hope she has a story like you one day
Thank you so much for sharing your story. I have two children who are 3 and 16months. They were both diagnosed with HCU in the past month. I’m just looking for more information, and was nice to hear a positive story.
Thanks for sharing,. My sister’s first born just got diagnosed with HCU. My sister saw this story online and sent it to the family. Was nice to hear such a positive story. Thank You
This is such a positive story and must give great hope to anyone who is burdened with a serious condition, and to their families. A friend’s first grandchild has been diagnosed and I’m sure your story has helped and comforted her. Thank you for sharing it.
Thanks for sharing your story, it is such a good thing for me, finding another person with my disease that can inspire so many people that struggles with HCU everyday for the rest of their lives, as me. I was dignosed with HCU when I was little, I don’t remember exactly what age I was, I think like 6 years old, I’m not so sure about the age. I think we have so much in common, and I would like to talk to you in prive it, by email, so can you give me your email?
Good to read I also have hcu and no complications other than being quite short sighted. Am up for exchanging emails I am also in my early 30 s
This a awesome story. My son is 10 years old and also has HCU. It would be nice to find a support for this. I have not seen many articles or any support groups.
My fiance has hcu and wasnt diagnosed till he was 14 he struggles so much! we are both interested in fundraisers and things like that if you could keep us informed my email is firstname.lastname@example.org. thanks!
Helo, I am Marike Groenendijk from the Netherlands. I have two sons with the rare methobolic disorder OTC-deficiency. This is a urea cycle disorder which means the are missing an enzyme responsible for the break-down of protein. In Europe we established a network and registry for Intoxicating Metabolic disorders and since one year I am the programme manager of the Homocystinurias and methylation defects. Its aim is to improve the health of children, adolescents and adults affected with these rare disorders. As I am also the contact to the patient organizations, I am particularly interested in patients personal stories and their journeys to proper treatments. This is very important information for physicians, clinicians and researchers. If you want to share information, please do not hesitate to contact me via our website http://www.e-hod.org
Hi really enjoyed reading your story my grandson has been diagonised with hcu I am so worried for him and my daughter she is only 19 his name is Lewis and he is in hospital in Dublin at the moment I know nothing about it where do I start
Hi Eilish! I know you must be worried & have many questions. The good news is – it sounds like Lewis was diagnosed early. HCU is more common in Ireland than in other parts of the world, so I’m sure he is being well taken care of by his doctors in Dublin. If you and/or your daughter have a Facebook account, there are two great support groups I would recommend for families and patients with HCU. They are called Homocystinuria and Homoocystinuria support is available!!! I am on both sites & would love to connect with you more there.
Also, if his doctors determine he will need to follow a low-protein diet – there is another Facebook group called Cook for Love that has tons of recipes & ideas for people with metabolic disorders.
Hope this helps!
I really enjoyed reading your story and thrilled that you have not suffered complications of this rare condition. I would love to hear the specifics about your diet, as ours was a general low protein diet and avoid animal protein. I would like to share with you some history to your condition. During the 40’s my twin was being chased around the house by our doctor to give B6-B12 shots and in the 50’s early 60’s my twin sister was making cysteine kidney stones in both kidneys faster than the doctors could remove them. This entailed a full blown surgery that sliced her from her belly button around her side to the middle of her back to expose the kidney and remove the stones. No one knew that the stones were Cysteine until my mother insisted they be tested because Brenda was making so many so fast. Long story short, we ended up at the National Institutes of Health for a study to find out what was going on….and that is when they discovered HCU.
We were in and out of NIH from age 15 to 21 and Brenda had a total of 9 major kidney surgeries (luckily I had only one) but both of us have had so many kidney stone procedures that we have stopped counting.
She currently has both kidneys full of stones at age of 71, she is in assisted living on non-stop oxygen. She has always been worse than me and I am sure her diet has a lot to do with it.
We were written up in JAMA in the 60’s and I think some time later they started testing babies at birth. You were very fortunate to have your family and the testing. Fredrick T. Barter MD and Myron Lotz MD were our doctors at NIH and really responsible for a lot of the research into HCU.