Newborn Screening Family Stories

Jake's Story (LCHAD)

We have a six-month-old son, Jake, who has been diagnosed with LCHAD. Jake was born on April 17, 2002 and very ill within 24 hours of birth without explanation. Our first shock was his size at birth. He was born at only 5lbs 13oz and 17½" long. Also my placenta was matured to the point where it may not have been functioning any longer (so Jake may have been heavier but actually lost weight at the end of the pregnancy from not being nourished). We had expected he would be an average sized baby since I did everything right throughout the pregnancy and was in good health (no signs of HELLP).

Then when Jake came to the postpartum room with me the nurse noticed that his temperature was low. No matter how much we tried to keep him warm his temperature wouldn't stay up. The nurse suggested he stay in the nursery under the warming lamps until he can stay warm on his own. I was only able to bring him to my room for 20 minutes at a time to nurse him. Then I was extremely frustrated because I was trying to nurse and he wasn't getting the hang of it very well and he was too lethargic to stay awake long enough to eat and now I'm watching the clock because I have to hurry up and get him back to the nursery! This is our first child and I have no prior experience with babies (I'd never even changed a diaper before Jake was born ~ what a way to start out!) so I was a bit nervous to begin with because I wanted to make sure I did everything right. Although Jake seemed so exhausted, he wouldn't fall into a restful sleep and was sort of moaning non-stop. As much as I wanted to breastfeed I was getting concerned that several hours had passed by since birth and he hadn't had anything to eat (probably at least 15 hours after birth).

I then asked the breastfeeding consultant for a bottle so he would eat something. But she told me "if I was serious about breastfeeding that I shouldn't give him a bottle at all at this stage" and that he had plenty of food in him from being inside me!

Well not long after that Jake ended up being admitted into the Neonatal Intensive Care Nursery for hypothermia. Of course after that I never rested the entire time I was in postpartum because I was so worried and constantly visiting Jake in the NICU (it's just amazing how quickly the mothering instinct takes over and the baby becomes the most important thing in your life). Of course the one time I fell asleep for a few hours at night I went to check on him at about 3am and they told me that he was having a rough night and his blood sugars kept dropping down dangerously low and at one point had gone down as low as 23 (sound familiar)! Then because of the hypothermia and the hypoglycemia he ended up with hypertension! You could tell by watching him breathe so rapidly that something was wrong. He looked terrible because he had so many wires connected to him. He just seemed to be helpless. Of course not expecting any of this or knowing what was wrong I was completely freaked out but they were telling me "Don't worry…alot of babies have these problems when they are born at a low birth weight."

Fortunately, we had decided to participate in the Newborn Screening Test (THANK GOD!!!). We had actually forgotten about that test because the nurses told us that they had never had one of those tests come back positive at that hospital. Meantime, he underwent several tests (i.e., EKG, ultrasound on liver, all kinds of blood tests) trying to determine what was wrong. A few days had gone by and Jake was having good days and bad days. He was actually showing progress for three days straight and we were told that we were going to be able to take him home...or so we thought!

Nothing was more devastating than going to the hospital with intentions of taking him home that day and as we were literally on our way out the door with him a phone call came in telling the Neonatologist that Jake's Newborn Screening Test had came back with a red flag raised!!! We were then told that he was going to need to remain in the hospital while they re-ran the test. Meantime, they had shown us the list of rare diseases that the Newborn Screening can test for and a brief summary of each ~ of course one case sounded worse than the next, none looking good. They were telling us that Jake may need to be sent to a hospital further away if he has one of these disorders because they didn't know how to deal with any of these diagnoses!

Although we knew we might be close to a diagnosis now we were almost even more worried! Needless to say, about a week after birth Jake was diagnosed with LCHAD! Unfortunately, nobody in the entire Neonatal ward had ever even heard of this and the doctors were graciously printing us information off the internet but really couldn't explain much about it or about Jake's long term quality of life! Thankfully, we were finally able to take Jake home 10 days after birth. One of the Neonatologists at the Hospital got us in touch with a wonderful Metabolic Doctor at Children's Hospital in Boston, Dr Deborah Marsden. Dr Marsden contacted us at home immediately and explained alot to us about LCHAD and put our mind at a little more ease knowing that somebody actually knows about this disease and for the most part it can be treated. Thankfully since under Dr Marsden's care Jake has been in great health (although we are always "knocking on wood")! Because Jake was diagnosed so early, Dr. Marsden expects that he won't have too many "episodes" other than possibly ones during periods of sickness and should be able to lead a pretty normal and healthy life...we just hope so.

One thing that we see with Jake that sounds familiar in many of your stories is he throws up an awful lot. Also not so common in your stories he has is severe gas pains and trouble going to the bathroom (he only has a bowel movement every 7-10 days)! When we first took him home we were very concerned because he was just projectile vomiting at least half of his bottle with every feeding! I felt like all I did was feed him and re-feed him. He was extremely colicky for three months which I now think was related to acid reflux. We put him on Zantac at three months and he's been like a whole new baby ever since and is very happy most of the time. He has been through an Upper GI that appeared normal. His GI Dr had us also put him on Reglan to help his stomach empty out faster (the Zantac only helps with the burning of acid reflux and heartburn but it doesn't stop the vomiting). We took him off of the Reglan after just a few days because we didn't feel comfortable with his stomach being emptied out too quickly with his fasting issues even though his Metabolic Doctor said it should be okay. Also the potential side affects didn't sound too good and we'd just rather him not be on too many medicines at this young age.

As far as his diet goes he is on Carnitor® (1cc 1x/day) and is on the Portagen formula exclusively. We add 1¼tsp of Canola Oil to each batch of formula (28oz water and 1cup of Portagen powder). I also give him rice cereal, oatmeal and all of the stage one fruits and vegetables. We do not have a feeding tube for him. We hope to be able to avoid that but we will have to see what his fasting tolerance is when he gets a bit older and we will see how he does when he gets sick. He recently had his first cold and was such a trooper and didn't have any issues. Right now I feed him every 4 hours during the day and every 5-6 hours at night.

Of course every time Jake has a really fussy day we worry so much that something could be going on inside that little body that we can't see. We do have a glucometer but I have a hard time using it by myself most of the time (It's the Accu Check Active, I'm open to suggestions on one that's easier to use on an infant), I think it's just going to take more practice. Another thing we really worry about is the possibility of Jake getting Retinitis Pigmentosa, which I understand some LCHADers may have the potential for having in the future. There is a funny coincidence that my husband's father, two uncles and grandfather all have RP and were legally blind by about age 40! To boot my husband and I both had severe nearsightedness and astigmatisms in both eyes to the point that we were legally blind without eyeglasses! Fortunately ours was correctible with glasses but we both recently had LASIC surgery to correct it and now have 20/20 vision (I don't believe this surgery can help with RP though). So I feel that if any of this bad vision is inheritable poor Jake's eyes may be doomed!

I guess the hardest thing now is for one, dealing with his other doctors. His Pediatrician and other specialists (his GI Specialist and Ophthalmologist) have never even heard of LCHAD. Every recommendation by those doctors has to be run by the Metabolic Dr. Then there's the babysitting issue, we of course don't feel very comfortable leaving him with anyone besides my parents who live very close to us and have a pretty good understanding of LCHAD and Jake's daily schedule and habits now. Fortunately, I'm taking a year off work to be home with Jake. Another life change is it looks like when I do go back to work, I'm going to need to only work part-time so I can be home to cook healthy meals for Jake and have some extra time to spend with him if he has any developmental issues and for doctor appointments. Then there is the daycare concern. Although I think we are going to be lucky there, it looks like my mom and perhaps a close friend are going to watch Jake when I do go back to work so I won't have to worry about putting him in a large daycare that's filled with lot's of germs. So as many of you can probably relate, I am exhausted most of the time between the frequent feeding schedule during the day and overnight and the extra care that he needs and all the time I spend on the internet reading about this and contacting people with questions etc. Another hard thing is we have decided that Jake is going to be our only child because we don't want to risk having another child with LCHAD. We never know what complications may be ahead. But it's definitely all worth it…we love our little guy more than life itself and we wouldn't trade him for anything…LCHAD or not!

We have read many of your stories and are so sorry to hear about some of the horrible things your families have endured with these FODs. We really do realize just how lucky we are that Jake was diagnosed so early. We truly feel that we owe Jake's life and good health to the Newborn Screening Test and Dr. Marsden! Feel free to contact us if you have any questions for us or if we can be of assistance in any way. We are eager to get in contact with other LCHAD families, particularly anyone locally as we still have lots of questions and concerns. Also since we are just recently new to this website (Oct 2002), we would be interested in hearing about any test studies that are currently underway specific to LCHAD and RP and may be interested in participating in some with Jake (I realize some of these are listed on the site ~ we haven't had time to look at them in detail yet). Our thoughts and prayers are with you and your families. Stay strong!

Michelle Bray
Mom of Jake Bray, 6 mos old LCHAD
Massachusetts
October 25, 2002
michelle.cincotti@yahoo.com