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).  

Jesse's Baby Pictures

Jesse is now twenty-four years old, but here are a few pictures of him when he was younger.  In the first two pictures he was about nine months old, in the bottom one he was about a year and a half old.  
 

A Video of Jesse

I thought some of you might be interested in seeing an adult with Floating Harbor in more than just a picture form.  Here is Jesse at age 22 (he just turned 24).  

Eating and Growth Issues with FHS Children

I believe the single biggest concern as a parent of an FHS child was that of eating--gaining weight and height.  Even after we got a diagnosis and I knew that that was one of the main issues, it still concerned me.  And since I got another email from a concerned parent this morning, I thought I'd briefly address the issue and include these growth charts to help lessen the fears of our amazing FHS parents.  (It is hard to be a parent of these children and be concerned about their health issues.)  

First of all, they just don't seem interested in eating.  When they are younger, they don't have much of an appetite and they don't care about food much at all.  Before we had a diagnosis and the doctors were concerned, they suggested a feeding tube.  Now, if we had known what we do now, we would have NEVER done that because it didn't fix anything, but it did create a whole other set of problems.  Even though our son was getting 2,000 calories a day, he wasn't gaining any weight.  The gastroenterologist couldn't believe it, but it was true.  You can put all the calories in them you want, but they won't grow or gain much weight at all.  Remember, dwarfism is part of the syndrome.  You can feed a dwarf all you want, but he won't grow taller.  It is genetic.  We cannot reprogram that.  

So, what we did do eventually worked, and that is what I suggest.  First of all, I would give our son "super shakes" with rice milk or rice ice cream, liquid amino acids, and vitamins.  I also gave him tuna fish with lots of mayonnaise (fats and fish oils) for lunch.  THAT is when he began eating and talking more, and other FHS parents have reported this as well.  These foods are known as "brain foods", and they help the body in many ways, including increasing myelination of the brain (the fatty tissues which help the brain nerve cells connect and communicate.)  

Secondly, we let him eat whatever he wanted, as long as there was a good balance of proteins, carbohydrates, and fats.  He liked oatmeal, so we would put lots of heavy cream and sugar in it (more fats and calories.)  He loved McDonald's french fries, so we would get him a small fry for a snack every evening.  He liked chicken nuggets, so I would make those for him every night because he would eat them.  He seemed to really enjoy (and still does enjoy) soft, salty foods like mashed potatoes.  I would feed him three meals a day and a hefty snack at bedtime.  Remember, while this will help them eat a little more and do some other brain-feeding types of things, they WILL NOT gain a lot of weight, nor grow in height.  This comes more at puberty, so just be patient.  

One more warning about growth hormone.  The doctors want to "help" and do something, but there isn't really anything they can do.  The children who go through years of hormone shots don't end up any taller than 5 feet (152 cm) no matter how  many years of hormone shots they are forced to endure.  (I'm not sure about the one red dot at 64"-- I wonder if that person truly had FHS.)  If a child's parents are short, the child will end up at around 4 ft. 6 inches in height (137 cm), and if the child's parents are taller, the child almost always ends up to be a little taller for an FHS adult at 5 feet (152 cm).  And, several parents have reported negative consequences because of these shots, which don't help in the end anyway.  Please don't put your child through this.  Feed them well, love them, and embrace the differences.  Our son was called "the mouse" because his friends and cousins could hide him anywhere during hide-and-seek and no one could ever find him.  In Sunday School he was baby Jesus because he was the only one who could fit in the cradle.   Little is cute, not bad.  

To see pictures of our FHS son at different ages, click HERE.

A Visit to the Eye Doctor

Two of Jesse's first surgeries were for bilateral strabismus (crossed eyes) and zonular cataracts.  Zonular cataracts are not the kind older people get, they are the kind with which some special children are born, as was our Jesse.   (Though this is very rare, even with Floating Harbor children.)  Our wise doctor chose not to implant lenses at that time, and Jesse has been more than happy with his thick bi-focals ever since the surgery.  Every so often we make a trip to the optician and get a new prescription for his glasses, and every time we do I am reminded of how well he is doing.  I am so thankful that all he really needs, other than some love and care, is a new pair of glasses.  

Frequently Asked Questions from Parents of Newly-Diagnosed FHS Children

Some time back a mother who had just found out that her child had FHS asked me some great questions. After I had answered them, I saved what she had asked and what I had written in response, as I thought it might prove useful to others, and I hope it is.

But before I do that, let me offer you some encouragement. When we found out that our son Jesse had FHS we were very relieved. You see, we had been told by a doctor (I still have the letter) that he had another type of syndrome where he would have died between the ages of 3 and 5. (He was 2 when wrongly diagnosed.) We were so sad and at a loss of what to do. Then, he gradually got better instead of worse. When he was 8 we got the FHS diagnosis, and compared to so many other syndromes, it really wasn't that bad. So, some of the answers may sadden you (I hope not), but I want to be honest. And again, compared to so many other medical conditions FHS really is pretty easy to deal with.

My child is currently non-verbal and I am wondering if and when he will ever talk. We have been in speech therapy for 2 years.

Most of the boys have a slower time talking than girls. Usually they learn sign language around age 2, then gradually between 2-4 become more verbal, although it is slow going.
Some of the boys really have a hard time and use a combination of sign language and squeals. Their families can usually understand them way better than everyone else.

What other cognitive challenges lie ahead?

The FHS children will usually be in special education for reading, math and spelling, and then mainstreamed for everything else. They will always be very short and a little different. (I think they are cute and sweet!) Our son is 22 and "graduated" from 12th grade at a 3rd grade spelling level and writes only in all capital letters. BUT, he can read and write and does pretty well, so we are proud of his accomplishments.

What are the chances of him being a "normal" 30 year old with a job, wife and kids of his own?

When they grow up, the FHS adults can hold simple jobs like working in a grocery store or something like that. Only two that I know of have been able to get their driver's licenses, and they are very high-functioning for FHS adults.
None have ever gotten married or had children except for one possible case who had a child but is not married.

Do you have any other advice?

My best advice to you is to relax and be glad your child doesn't have something worse. The FHS children are cute and usually well-tempered. They need lots of food and snacks so their blood sugar levels don't drop (then they behave badly). They sleep best if the house is quiet and a fan is on to block out any noise. They need naps. (My 21 year old still takes a nap.) Their bodies get tired more easily and some of them (mostly boys) don't store any fat, so they are easily fatigued.
They need lots of one-on-one time with their moms. This is how they learn to use sign language and talk. While speech therapy session once or twice a week is good, practicing every day at home with mom does WONDERS for their sign language which will lead to speech once they figure out they can communicate.
While they seem to benefit from foods like tuna and mayo (to help brain myelination) and "power shakes" with soy protein, amino acids, and vitamins, the growth hormone shots are not recommended by me. The long-term results are NOT at all successful. They will grow a little bit, then after years of shots end up still as short as they would have been without them (most FHS adults are 4 foot 6"- 5 feet tall max). In the meantime they have gone through years of shots, extra hormones being added to their bodies which seems to mess things up behaviorally and otherwise (lots of parents have complaints about them). The doctors suggest GH therapy (growth hormone therapy) because it is all they know to do. The children are short, so they figure they will do that and the children will grow a few inches, the parents will be happy, and they (the doctors)
will have done something to help. At this point there is nothing the doctors can do, and in my opinion, doing GH therapy makes things worse for the child with no long-term results. 

Can I also get a copy of the packet for teachers?

The information is on this website under the headings "Schooling Notes" and "For Therapists, Educators, and Parents". Feel free to print these and share them with anyone whom you believe would benefit.
If you have any other questions please check out our informational website at www.floatingharborsyndromesupport.com
or contact us at littleflock7@gmail.com. 

Safe Harbor, FHS Support Group Newsletter Sept. 2013

Ontario Medical Lab Discovers FHS Gene

by Dr. Meghan Connolly

     Dr. Kym Boycott’s lab in Ontario, Canada recently discovered “SRCAP” as the gene which causes Floating Harbor Syndrome (FHS), a condition characterized by short stature, delayed bone age, speech delay and distinct facial features.  While we are still learning a lot about SRCAP and its role in the body, Dr. Boycott’s team found that mutations which cause FHS are clustered in on a specific part (exon 34) of the SRCAP gene.  This suggests that this is a very important part of the gene for its function.  While everyone has two copies of the SRCAP gene- one inherited from their mother and one inherited from their father- individuals with FHS have a change or “mutation” on one of their copies of SRCAP, making it unable to work properly.  Having a mutation in one copy of the SRCAP leads to the features seen in individuals with FHS.  To date, all SRCAP mutations reported have been “de novo” or “of the new.”  This terms refers to the fact that the mutations were not seen in the parents of the individual with FHS, and therefore, the gene mutation was not inherited from a parent.  Instead, de novo mutations occur spontaneously, or by chance, at the time of conception of the individual with FHS.  These SRCAP mutations are not caused by environmental insults (what parents ate, or did) but rather just happen by chance.  Because of this, it is very unlikely that parents of a child with FHS will have another child with FHS.  However, when individuals with FHS have children, because they already carry the SRCAP mutation, they have a 50% or 1 in 2 chance of having a child who also has with FHS.  There are genetic testing options to test pregnancies to see if they carry a FHS mutation. 

So what does this discovery mean?  It means that now families with a suspected FHS diagnosis can have a genetic test to confirm the diagnosis of FHS.  It also means that we can better define FHS and over time will be able to better describe that the life of a person with FHS may be like.

Editor’s Note:  Dr. Connolly is a genetic counselor at the Manton Center for Orphan Disease Research at the Children’s Hospital Boston. 

  

Ewan, 28 years old, UK

This year has been quite a challenge in many ways for Ewan. He is now 28 years old and a real character! He lives in a semi-sheltered accommodation (group home) in Oxford which is some miles away from where we live,  but he is able to make the journey by bus to our house and to his part-time job easily. He does enjoy his own space but needs lots of help to venture into any social situation apart from those with family members.  He loves film and computer games.

His main successes this year have been in his developing confidence and in his ability to look after many of his own daily living tasks effectively, albeit with some support.  He has had some health issues and a paper was written about him. He has  Adult Polycystic Kidney Disease (APKD)  which was discovered after several kidney infections and raised blood pressure were noted. The outcome of the paper was the suggestion that cases of Floating Harbor should be routinely monitored for this disorder on diagnosis and then subsequently. Our other main worry is his teeth.  They have given him the most problems this year.  They are very small and in very poor condition needing frequent dental intervention, however Ewan himself manages all this issues well and as an adult is more cooperative with the help!

It is really helpful to have your magazine and I just wanted to say a big  thank you as it is so important to see other people with the same condition and hear their stories.

Regards, Barbara Harker 

Anna Maria, 10 years old, Portugal

 

        Anna (left), and Anna (on right) with her sisters

My daughter received the diagnosis of FHS three years ago at age seven.  She can read and knows her numbers.  She has no notion of days and has mild mental delay.  I need you guys!! She is behind in school.  She is learning to use her glasses.  She gets medical help here in Brazil.   She is 1.10 meters tall (3 feet 7 inches).  

Jacilene Maria, Anna’s mother

Debbie Wood, 31 years old, UK

Good morning from the land of castles.  Debbie is 31 in April.  She is about to open her own shop and employ a couple of people.  You will see in the picture of her and "JAWS" 2  (above) she has been working as an EMT (emergency medical technician) for her brother’s ambulance firm.  She is starting to talk about having Floating Harbor, but only with her family and close friends. She had so much prodding and poking from doctors she thought she was part of a freak show!

She holds a job down, she drives and her speech is getting a lot better.  She still has a few medical problems like her curvature of the spine (back problems). She has won gold awards from all over the world for the beautiful cakes she makes.

She goes around the UK teaching sugar craft (cake decorating).

So what I am basically saying is “Tell all the parents of Floating Harbor children  there is light at the end of the tunnel”.   I, like many, have had sleepless nights thinking what will happen when she gets older. but this proves that all FH children will find their level.  

The only regret I have is that I sent her to a special school as I thought she would not survive in main stream school because she was so little.  If I could do it again  I would put her in a main stream (regular) school.  I hope this might help other parents.  

All the best,  Dennis Wood, Debbie’s father

Connor Robinson, 8 years old, UK

Connor is now eight years old although he still wears five to six-year old clothes  

He is 1.1 metre tall (3 feet 7 inches) and weighs about 22.5 kg. (49 pounds).  Although he doesn't yet talk he has picked up the key words he needs to be understood. Makaton sign language plays a part of everyday life at home and at his school where only children with special needs are taught.

He spends his free time listening to music and playing on game stations like any other child. He has a gluten-free diet which has kept at bay a lot of the problems he once had. He suffers with bouts of aggressive behaviour when he is frustrated or unable to have things his way. His general quality of life is good and he brings much laughter and happiness to the family.

Steve Robinson, Connor’s dad

Hello FHS Support Group!

I thought it might be good to share our experience with looking into the idea of having our FHS son Pete IV take Risperdal.  He is 18 years old and is a Senior this school year.

Pete IV has had some really bad days at school.  His emotions would get the best of him and he would have tantrums.  I asked his teacher to try to keep a list of his tantrums so we could see if he was being disruptive too many times and so we would have a written account of tantrums to compare with if we used medications.

Pete and I also regularly visited a counselor at Seattle Children's Hospital .  We discussed the fact that he was disrupting class, taking time away from class curriculum for both himself and his fellow students, and Pete was not trying to use any of the coping techniques the counselor had taught him.   

We had an appointment with the clinic nurse.  She explained that the medication is designed to block some of the testosterone from reaching the brain, hopefully with the effect of quieting the emotional surges.  Then she explained that Pete IV would have to have blood drawn every 6 months to test for organ problems.

Pete IV had a bad day at school and I needed to talk with the vice principal before I brought him home.  The vice principal told me that Pete IV had three tantrums in less than two weeks.  I talked with Pete IV's teacher and I found out that he had not had tantrums for quite some time. 

So we decided not to have Pete IV try the medication for a few reasons.  

I had been getting incorrect information from about how many tantrums Pete IV was having from school employees that are not with Pete IV on a regular basis.

Pete IV had been experiencing less tantrums as the school year progressed, documented by Pete IV's daily teacher.

        The medication can cause organ problems.  No body fat is a symptom of FHS, and with no body fat in Pete IV's body, there is no buffer area in his body for this medication and everything would go straight to his organs.  There would be no buffer to help displace any bad side effects.

Pete IV is 5' 3 1/4" tall.  Each time we go to the doctor and he is measured, he tells me that I can not do the happy dance.  But when we are out by the car after the appointment, he says I can do the happy dance.  And I think he is 115 pounds.

Pete IV enjoys participating in Special Olympics Unified Soccer & Basketball.  The Unified sports are programs implemented in the schools that have both special needs athletes and regular education partners/athletes, so each team has both athletes and partners.  Unified Soccer was brought in three years ago and Unified Basketball was implemented this year.

Pete IV has participated in his high school cross country and track teams.  He has participated for three years in cross country and two years in track. He has been team manager for his high school girls’ basketball and boys’ baseball teams.  He really wants to try out for football, but his father who played football for his high school said “no”.  There is a lot of tackling and hitting, even in tryouts.  And I am a happy mom.  I do not have to worry about my boy getting muffed up trying out for football.

We hope everyone is doing well!

The Williams Family

Ben Sinclair, UK

My brother Ben is 27 and has FHS. He is a very happy man.  He has a girlfriend and a job and loves to travel around London on the trains. Our mother was a support worker for people who are effected by FHS, but sadly she passed away when ben was just 15 and we haven't had any support or information regarding the condition since then. Recently Ben has asked me to help him find out more information regarding his condition and I was lucky enough to stumble across the FHS webpage. If anyone would like to contact me regarding Ben then please feel free to do so.

Nicola Sinclair

Jodie Webb

        Jodie passed away in March.  She had what was described as a “catastrophic bleed in the head caused by an undetected aneurysm”. I understand that one-third of the population have aneurysms of one sort or another. Of these people one-third will die from them, one-third will survive with varying degrees of problems and the others won't even know they have an aneurysm. Jodi lived life to the full and as was testified by a lot of people was very well thought of. 

          We thought about sixty people would come to the funeral. We had a little chapel at the cemetery that only held seventy.  They squeezed 200 in and there were still people outside!   Many people came including her old headmaster from the special school, pupils, her old doctor, old friends from a one hundred miles away -- it was staggering.  Her Dentist also wrote and read a tribute to her. The joy our Jo bought to all these people’s lives was unbelievable. The common views were that she had a  beaming smile, a hug, a chat, and was then gone. 

This has left a huge hole in our family’s lives which we are still trying to come to terms with. 

If you look on Jo’s Facebook page you will be able to read some of the comments. (Jodie Webb)

The only thing we can say is that there were subtle changes to Jo's demeanour for three to four months before.   We put this down to the fact she had a steady partner and  were so very happy together.

Unfortunately the damage in Jo's head was so bad they couldn’t tell if there was any damage prior to the event. This has all been logged with the geneticists at Great Ormund Street who are in contact with the Canadian group looking into Floating Harbor.

                Best Wishes to everybody Andy & Emmy Webb

                               Jodie's Mum & Dad

Editor’s Note: Brain aneurysms are not related to FHS per se, and this is the first reported known case in more than thirty years.  Aneurysms occur in the general populace, and as to date it is not believed that they have anything to do with FHS.

Andy and Emmy- Thanks for sharing.  Our hearts go out to you in your loss. 

Initiative to establish a medical registry
for Floating Harbor Syndrome

 July 9, 2013

Dr. Matthew Deardorff, a geneticist at Children’s Hospital of Philadelphia (CHOP) in the United States, has offered to investigate the potential for a medical registry for Floating Harbor Syndrome (FHS).

What is a medical registry? It is essentially a database that would serve as a repository for interested patient families and their clinical information.  In the situation of rare disorders, like FHS, any one clinician may see only a few patients and have only a small amount of information regarding the clinical features and complications that might be seen by individuals.  By creating a registry, it can allow a better understanding of the range and frequency of features and serve as a central hub to identify families who may be interested in helping to answer emerging questions regarding FHS.

How will the registry help my child? This central database/registry would help track FHS patients over time. Families and patients would voluntarily register and supply information that could be used to understand health issues and improve quality of care.  The registry would also serve as a resource for further research. For instance, families might be asked to complete questionnaires and be surveyed about various topics related to the syndrome. If other groups are identified worldwide who are researching FHS, Dr. Deardorff’s team will work to coordinate with them and make a research network.

In the past, their hospital has been able to facilitate gatherings of families of children with genetic syndromes to allow parents to meet each other and share information.

The geneticist is Dr. Matthew Deardorff, whose biography is here: http://www.chop.edu/doctors/deardorff-matthew-a.html

 Who will have access to my child’s medical information? Only relevant hospital personnel and other medical researchers

 Who may join? Any person of any age worldwide with Floating Harbor Syndrome may register.

 Is there a cost to families? No. The research team will identify means to fund the project.

 How do I participate? At this point, send only your name and email address with a note of your interest to volunteer parent liaison Karen Mancinelli, an FHS mom, at kmancinelli@optonline.net. Do not send medical information. If you have questions, please ask.

 Why is a third party collecting contact information? Dr. Deardorff is unable to collect names for the registry until he has approval for the research project from CHOP’s research project approval board. Because FHS is so rare, FHS parents Karen Mancinelli and David Paige are conducting a headcount to estimate how many people might be interested in joining the registry. This information will be included in the application.

 With a quick response, it’s possible that the registry could be up and running by the end of 2013.

Left to right:  Levi, 9;  Mary, 12; and Jesse 19

From the Editor

Everyone who wrote an update, thank you so much for sharing your stories with us.  In the beginning there were just a few of us and all the children were eight years old or younger.  It is so nice to hear about experiences from parents of older children and adults, and it is encouraging to read how they are able to function in society.

I encourage everyone to sign up for the medical registry by contacting Karen.  We have already done so ourselves, and it will only help for us to share information so that we have more collected over the years, thus enabling the medical community to better serve us.  Knowledge is empowerment!

Jesse is nineteen and will turn twenty in just two months.  He is the official janitor at our school and church.  He goes to school with us each day and takes out the trash, sweeps, mops, makes copies, and just about any other simple task we give him.  He occasionally gets upset at something, but there is a little office in the back where he can have some “alone time” and cool down.  I have also noticed that he takes several naps or rests during the day where he doesn’t necessarily sleep, but lies down and rests for an hour or so.  I think this is because of the lack of fat storage and metabolism issues.  He does eat and sleep well. 

I encourage any group members with a confirmed FHS diagnosis to send an email with an update and pictures of your children, along with written permission for me to share them with the group.  

And as usual, please let us know if there is any new or unusual condition your child has or was recently diagnosed with.   Also feel free to ask any questions.  There is probably someone else who has experienced the same things you are experiencing and may have suggestions to help you.  

Sincerely,

Deana Swanson, FHS Support Group, Jesse’s mom