Floating Harbor Syndrome -- Birth to Adulthood

I received an email from an FHS mom today whose son was recently diagnosed with FHS.  She wanted to know our story.  I could write a book, but I responded with this "shortened" version that really isn't that short.   I thought it might be of interest to others as well. 

Jesse was our first born, so we didn't realize anything was wrong the first few days, but he wouldn't eat much and wasn't doing well and my sister noticed.  She had us go to revisit the doctor and then a nursing specialist.  Using a supplementer, we got him eating better and he began to gain a little weight and not be as cranky.

He slowly gained weight, but remained small.  I remember at 12 mos. he weighed 12 pounds and couldn't walk or talk.  Then at 15 months he weighed 13 pounds.  Our pediatrician kept insisting he was fine, just small and a little delayed.  I had a friend who encouraged us to request to see a specialist.  A gastroenterologist ran a few tests and found nothing wrong, but had him admitted to the hospital for a week to be put on a NG tube and do 24-hour feedings.   We kept this up once he was out of the hospital, but 6 months later he only weighed about 18 pounds and stayed there.  There was very little more growth or weight gain, and by that point he had stopped eating by mouth completely.  I had begun to research-- a lot.  

Right after his second birthday we took him to the Mayo clinic where they ran a myriad of tests.  We kept hoping he just needed an additional enzyme or something to help his body to be able to use all the calories he had been getting.  It was then that they informed us that he had some type of syndrome, and that failure to thrive (to eat, gain weight and grow) and dwarfism (small stature) were both part of it.  At least that made sense.  The bad part was that they thought it was in the Cockayne's syndrome spectrum, and if the child was born with zonular cataracts (which our son had) they lived to be 3-5 years of age.  That left us possibly only one year with our precious, tiny little son.  That was a hard year.   I kept researching.  

Back at home the doctors performed a surgery to insert a G-button directly to his stomach.  I refused to have his stomach cut up and rearranged (the Niessen wrap) because I was hoping this was short-term.   Thankfully, it was.  

Around age 2 1/2 he began throwing up the canned formula.  Our doctor told us to use whole milk and Carnation Instant Breakfast mixed together instead.  I did for a couple of days, then he began throwing that up in chunks and I read the ingredients.  I decided to try something different based on my research of the Down's Syndrome diet, the Feingold diet, and various other things.  I made a mix of rice milk, olive oil, liquid amino acids, soy protein powder, vitamins E, C, B complex, D, and fish oil capsules.  I had a certain amount of each ingredient that I used, and I calculated the calories and grams of protein, carbohydrates and fats in each 8 oz. serving.  Not only was it all-natural (compared to the junk in the formula and the Carnation Instant Breakfast), but it had more calories, and more grams of protein, carbs and fats per 8 oz. than what the doctor had recommended.  I showed her the recipe and she said it looked good and that I should use it.  (Another doctor told me, "It can't hurt, all you could get is expensive urine.")  

The progress we saw in the next two weeks was incredulous.  He began to talk, have more energy, and was actually putting food into his mouth.  I bought him a little plastic kitchen and stocked it with Tupperware containers full of all his favorite foods.  His first sentence was, "I cooking".   

He was much healthier after this.  The doctors began to doubt the previous diagnosis because of his progress.  Within about six months we were hardly using the feeding tube.  A year later it was removed.  During this time (about age 2 1/2 to age 4) he began to progress.  It was very slow, much later and slower progress than for a normal child, but it was indeed progress.   

I had also noticed that he could understand when I spoke; he would respond to what I said to him, but he couldn't speak in response.  Sign language enabled him to communicate his needs and wants to us.   I had been teaching him sign language since he was one.   By age 3 he knew about 100 signed words and could sign sentences, but that was about the time (age 3) that he began to speak much more, and as soon as he was able, he would talk and dropped the sign language.  I believe that the sign language was crucial as it enabled him to communicate with us while his brain was supposed to be doing this orally.  He would "tell" us things and we could understand and we responded.  It opened up a two-way communication that was vital.  If we had not worked very hard on this he could have gotten very frustrated and just given up; then the "window" of time, the age where most children learn to talk and communicate would have been lost.  Some children just shut down and withdraw if they cannot communicate in some way.  If they not communicate orally, sign language is a great option to take advantage of this communication window while it is still open.  

He liked to eat salty, soft foods.  His favorite food was McDonald's french fries.  After all the healthy stuff I'd fed him, I was a little disappointed at this, but it was so good to see him grab food and put it in his mouth.   My husband would stop at McD's and bring him home a small french fry every day after work.  On Saturdays they would go together to get some.  I would make him homemade french fries at home along with chicken nuggets, mashed potatoes, tuna fish with lots of mayo, Hershey's kisses-- anything he would eat.  Although he was still very short and skinny, he was growing a little and making lots of progress.  I began to do pre-K schoolwork with him at home and we read a lot of books.  I had him point to something on every page and make him answer lots of questions.  His brain was turned on and working well.  We sang songs; took long walks to get fresh air and observe cats, squirrels, leaves and pine cones; and went out on excursions.  

Jesse (far right) at age 15 with most of our family

He made incredible progress.  He learned to read at age 6-7.  His progress was very slow, but steady.  We rejoiced in every little advancement he made.  I homeschooled him up until 10th grade when my husband and I both returned to the classroom to teach.  He did his spelling, English and math at a much lower level and was main-streamed for the other classes, although he never scored really well on tests.   He graduated with a special diploma his senior year at age 18.  He was on a 5th grade math level, 6th grade English, and 3rd grade spelling.  He only writes in capitals, but he writes.  

He is now 22 years old and helps out a lot around the house.  He does much of the laundry, ironing, and taking out the trash and recycling stuff.  He does many other chores and is a blessing to our family in that way.  He rides both a 2-wheel and a 3-wheel bicycle around town, staying on our side of Main Street.  He likes to get our mail and packages  on his 3-wheeled bicycle with the big basket on the back.  He enjoys going to the hardware or convenience store by himself and making small purchases.  There is also a little local restaurant he frequents.  He would like to get a job such as stocking at a grocery store or something like that, but so far no one has hired him.  

Jesse and I on his 22nd birthday

He doesn't like any change, sudden or not, and he needs to know way in advance whenever our routine will be different or if there is a special event coming up.  He has learned to ask so that he'll know ahead of time in case I forget to let him know.  He does pretty well with taking showers and shaving.  (At one point that was a real battle.)  He still gets very upset sometimes if something unexpected happens suddenly.  We have learned to approach him carefully and calmly and tell him, then he usually handles it better.

So, that is our story thus far, and I believe it is a good one.  We are not sad for what we do not have (a perfectly "normal" child), but we us rejoice for all that we do have (a child without too many issues who can function fairly normally).