HCU Heroes - Nathan's Story

The following blog post was written by Marian Cummings. Her son, 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 will be dedicating one mile of my 2014 Boston Marathon to this awesome kid!

Nathan was diagnosed at age 6 with HCU and thankfully it was because of a routine eye exam that was held at his school. 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 eyes “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..including his heart. He had an echocardiogram which thankfully came back normal and then he had genetic testing. It was a long 3 months wait for the results to come back. March 2012 we found out that Nathan has Homocystinuria. This came as a complete shock to us as they told us that this was a very rare and serious disease. They told us Nathan could have a heart attack, stroke or seizures and he is very prone to blood clots.

I was a wreck…I just couldn’t believe what I was hearing! 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 have to follow a metabolic diet, but he cannot eat a large amount of protein.  Looking back from when Nathan was a year old, his father and I knew something wasn’t right with our son. When Nathan was about 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. We kept an eye on him after that, not knowing if what I saw was actually a seizure.

As time went on, Nathan was slow with walking and learning; he had many sensory issues and would bang his head when he got frustrated.  He would bang it so hard, his head had a permanent goose egg.  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 about 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 20/30 and he only wears glasses for reading! It’s amazing to watch Nathan looking at the world in a new way and noticing things that he never did before. His learning has improved as well which is so amazing! We are truly thankful for all his doctors for the great care they give our son!

In Canada, where we live, they finally started screening newborns for HCU in 2006…1 year after Nathan was born…1 year too late!  Nevertheless, I am so grateful that he finally has a diagnosis and he has improved immensely with his sensory issues and learning, not to mention is overall health. We see amazing changes with our son. He 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 NORD's HCU restricted research fund in support of Nathan or another HCU hero - please visit my fundraising page for the 2014 Boston Marathon:

http://www.firstgiving.com/fundraiser/kristinrapp/bostonmarathon2014