Jacob from New Jersey
Our son Jacob was born on September 2017. He was long awaited by his older brother and us. He was absolutely precious and our perfect little bundle of joy. Then, on September 30, our lives were turned upside down by a phone call from the State. After confirming that I was Jacob’s mother, they asked if the pediatrician had reached out to me regarding Jacob’s Newborn Screening results. I told them that I had not received a phone call and asked if everything was ok. In turn, they said they could not give me any information, but I should reach out to our pediatrician. I didn’t quite understand why the State was calling me regarding test results for our son if they could not discuss the results with me.
Just as I was hanging up the phone, the pediatrician’s office called to schedule us to go in right away. When we got to the office, Jacob’s doctor let us know that his methionine levels were high, at 107, and that he would need to be retested to confirm because he may have a metabolic disorder called Homocystinuria. We had never heard of this disorder and asked her if she could explain. She told us she had only heard of this condition once before as a resident doctor and could not provide much information. Needless to say, we left the office feeling scared, confused and defeated as we did not know where to turn.
Jacob was retested on October 2017, and his methionine levels were even higher at 703. I do not remember being told that Jacob’s levels were so high. In fact, during a recent conversation with our genetic counselor, she said she may not have given us the number to avoid scaring us even more. (It is important to note that in New Jersey, the methionine cutoff for a positive result on the Newborn Screening test is 80 to 110.) But honestly, at that moment, we would not have known this number was so important. We will be forever grateful that our metabolic team began treating Jacob to get his levels down immediately. From day one, our genetic counselor has been a Godsend because she has always been very informative and helpful.
After Jacob’s diagnosis, we continued to do our own research, hoping to find anything that would give us more insight into Homocystinuria. We still felt worried and needed answers to so many questions. I came across the HCU Network America website and there I learned they were soon having their first-ever HCU Conference. I reached out to Danae to inquire about the conference and speak about Jacob. She answered many of my questions and encouraged me to bring Jacob along. The conference was such an eye-opener for us! We learned so much from the experts and met some amazing people. We realized that Jacob’s early diagnosis was a blessing.
Jacob is an intelligent, vibrant, strong-willed five-year-old. He is managing his Homocystinuria well. His treatment consists of Cystadane, B6, B12, Folic Acid, L-Cystine, a low protein diet, and his supplemental formula. When we were originally told that Jacob would need to be on a low-protein diet for the rest of his life, we were concerned and thought about all the things he would miss out on. However, today, I feel that his diet has allowed us to eat healthier as a family. We have adapted and learned how to make substitutions with our meals so that Jacob does not have to feel as if he eats very differently from us. We have been very fortunate to have family members and friends that are always happy to make adjustments for Jacob during gatherings.
During these five short years, we have been Jacob’s advocates in so many ways. On numerous occasions, we have had to explain Jacob’s disorder, his diet and the medications he cannot take due to his condition, to doctors, nurses, and teachers. We will continue to be his number one advocates for as long as we need to.
To all of the parents out there that have recently received this diagnosis, please know that you are not alone. It is ok to be scared, and it is ok to be saddened but know that with time you will develop the strength you need to move forward. Do not be afraid to reach out to The HCU Community. This community did wonders for our family. It is full of wonderful people that are always willing to lend a helping hand.
HCU Hero Story was added in December 2022.