Art was 10 days old when we got the call. A man on the end of the line, a doctor from the hospital, told us there were abnormalities in our newborn screening results. The newborn screening was something you just did, never thinking your child would have one of the conditions they tested for. I asked him to spell it out, H-O-M-O-C-Y-S-T-I-N-U-R-I-A, I wrote sideways on the page. Then I started writing frantically as he started saying words like metabolic, homocysteine, methionine……words I rattle off now. The hardest part was bringing Art in to get another blood test. He was so small and crying so hard as they stuck the needle in; my own tears fell in heavy drops onto him. I tried to comfort him but really his tight little fist was comforting me. That was the first of daily blood tests through a needle for over a week. The next day we were told the blood results still had abnormal readings and to get packed and head into Temple Street University Hospital. I felt extremely lucky we only lived a 30-minute drive from the National Inherited Centre for Metabolic Conditions at Temple Street.
It was during the height of Covid, September 2020, so only one parent was allowed with Art at any one time. I was breastfeeding so I stayed with him and my husband was only able to spend an hour here and there with Art while I slept in the car. It was a challenging week. I was recovering from just giving birth, had a newborn baby, had phlebotomists coming in daily to take his blood, had a social worker, psychologist, doctors and nurses and, of course, dieticians coming in to introduce themselves to explain their role and to support me with the diagnosis of Classical Homocystinuria, a lifelong condition. I was so exhausted I could barely take in what they were saying. I remember holding Art so close that week, my tiny unique baby, as I tried to make sense of the diagnosis. Everyone was kind and empathetic and telling me how gorgeous my baby was, which was helpful as a first-time mom who just ached to go home, stare at my beautiful baby and wish none of this was happening. When Art was asleep in my arms, I would read the HCU leaflet they gave me and then copy down paragraphs from it on to a notebook to try and become articulate in explaining it. The language of the condition was so foreign to me. It was a personal heartbreak for me that I had to stop exclusively breastfeeding Art. I needed to try and control his natural protein; although I could continue to breastfeed, I needed to make sure he took his special synthetic protein formula from a bottle first. When we came home this definitely proved to be a challenge as Art would cry and cry for the breast over the bottle. We later found a dummy/soother worked wonders to soothe him over giving him the breast. The fear was he would take too much natural protein and not any of his synthetic protein, causing a rise in the levels of the harmful substance homocysteine.
Around 1 in 65,000 babies born in the Republic of Ireland has HCU. It is an inherited genetic condition meaning Art’s father and I are both carriers of the gene and the meeting of two carriers is very rare. Added to that, there was a one in four chance we would pass the HCU gene to our child. Essentially, for those of you not familiar with the condition, Art is missing an enzyme called CBS. This means he is unable to break down the amino acid homocysteine, which we all make from methionine in our diet, which causes raised levels of homocysteine., which can be dangerous. If not controlled, the buildup of homocysteine can impact the major organs of the body.
Art will “not grow out of it” nor can he eat meat, which does include chicken, and fish. He can have protein, but essentially everything that has protein must be measured to ensure it is within Art’s allowance for daily protein. Bread has protein, cereal has protein, potato has protein, what you learn is everything has protein!!! Of course, Art can eat an abundance of certain fruit and vegetables. Spinach and sweet potato and banana are limited, but he has no interest in eating an abundance of fruit and vegetables for us! A big achievement was, after 16 months, going from weekly blood tests to fortnightly or every 2 weeks visits. We go to Temple Street to get the blood taken, and the phlebotomists are now like old friends and it makes such a difference that we get a big welcome when we see them. We then call the dieticians to get the blood results and discuss them before making amendments to Art’s diet as required. For example, lowering his intake from 6g of protein to 5g when his homocysteine levels spiked. Or increasing his intake from 6g to 7g of protein per day as his natural protein levels of methionine were too low. As it is a metabolic condition, anything like teething or a bout of sickness can cause the homocysteine levels to rise. It took well over a year before I started to not have a reaction close to despair when we received results of raised levels. I began to learn that it is the overall average levels over a number of weeks and even months that mattered and once they were at a good level and Art was developing well, there were no concerns. However, it is a constant balancing act between providing enough protein for Art to grow and curbing intake and ensuring he gets his synthetic protein to manage the homocysteine and other amino acid levels in the blood.
We attended a clinic initially every 3 months and now every 4-5 months. At the clinic we meet Art’s metabolic team, the dieticians, nurses, the NCHD’s (non-consultant hospital doctors) and his consultant. He is weighed, his height is measured and his development checked. The team of dieticians in Temple Street are supportive. They are there when we need them to be to allay our fears and concerns and to remind us that our child is developing well and meeting/exceeding all his milestones! Our consultant, who will be Art’s consultant until he turns 18, is a straight talking, matter of fact woman whom we love. She always fields my realms of questions with good humor and provides to-the-point answers, which I love. When you get a diagnosis of such a rare condition, having someone who can explain it simply and with clear language is a god send. We found the community on HCU Ireland Facebook page extremely helpful and of course HCU Network America who actually put me in touch with HCU Ireland! You realize what a small global community HCU patients are, and it is wonderful to feel connected in that global way. The other mothers just totally understood how I felt, and I can always ask for some tips or advice as they’ve been through it all. Recently, Art has been going through a challenging toddler eating stage that all toddlers go through and a growth spurt which means his natural protein intake has increased. Therefore, we often find and measure the bits of waffle he left on the plate and floor trying to figure out how much he actually ate. When he mashes the food between his fingers, we give up! I posted on the page asking for tips and got great suggestions. I find the low protein recipes on Vitaflo very helpful and what_esmee_eats on Instagram. The bread recipe on Vitaflo is one we turn to weekly.
One big battle for us was obtaining a medical card for Art. Again, HCU Ireland mammies were so helpful here and guided us through the options. However, as it is such a rare condition there are big divergences in what everyone has received in terms of state support. We applied and received Domiciliary Care Allowance which is a monthly state grant that also provides an automatic medical card. We would be happy to speak to anyone thinking of applying for the DCA. The DCA is invaluable support with our monthly shopping bills. Our cost for food tends to be high as a result of purchasing food not on prescription but that we need in order to add variety to his diet and up his protein levels such as gluten free bread, oat milk and vegan cheese, items that tend to be pricier. In addition, with his medical appointments, I felt I needed to reduce my hours at work to try and manage these.
One thing I would say to new parents of a child with HCU is that you will learn more about it week by week and before long you are an expert. You will know all those terms and words, and you will one day feel a bit of that weight off your shoulders as you realize it is under control. You’ll learn to read labels to check protein content in 2 seconds flat in the supermarket to see if your child can eat it and you will be able to look at a piece of avocado and say that’s 50g! However, you need to be patient with yourself as it is a journey, and a lifelong one. It also helps that my husband Dave and I work as a team, and we try our best to be patient with one another knowing there will be inevitable ups and downs on this journey.
Art is now 18 months old, his favorite book is called “A superhero like you” and he certainly is our superhero! He has met all his milestones; he was walking before 12 months and has been talking since he was 16 months old. He LOVES, LOVES the guitar. We once showed him a Bruce Springsteen acoustic video and now he asks for “Bruce” all the time! Who knows, maybe he will become the first HCU global rock-star? He is full of energy, love, hugs, and fun. We feel extremely lucky with our unique, rare baby and grateful for newborn screening. We are hopeful for a future where there may be treatments other than a strictly controlled diet and blood tests for Art. We are so hopeful, in fact, that we hope one day to expand our family. This may mean we have another baby with HCU (1 in 4 chance), but if they are anything like our Art why wouldn’t we take the risk?
If you wish to get in touch with HCU Ireland, check out the Facebook page: Homocystinuria (HCU) Ireland or email firstname.lastname@example.org