- I have a FOXG1 child. Should I try to have another child?
- Is there any impact on the life expectancy? How old is the oldest person with a FOXG1 mutation?
- How many people are there with a FOXG1 mutation?
- What are the most common medical conditions that our fox children have?
- What is the next step after a diagnosis?
- What specialists do I need to see?
- Will my child be able to walk, talk, speak, etc.?
- Why don't epileptic seizures always show up on an EEG in a child with FOXG1?
- What medication are FOXG1 kids on?
- Sleep issues: Is there anything I can do?
- Behavior: Why is my child biting, scratching, pinching, hitting, hair pulling, etc?
- What research efforts are underway including drug trials?
- Feeding Tubes:
- Puberty: Hormones, hair, and height, oh my!
- What is going on with my child’s jerky movements?
- Is acid reflux common?
- My child is going to school and I have to do an IEP/504 Plan. Where can I go for information?
- What kind of impact will living with this disorder have on the sibling/s of my FOXG1 child?
- What does all this mean for my relationship with my partner?
- How in the world am I going to handle this?
- Get someone to help with kids:
- Water! A shared love
- Music Heals
I have a FOXG1 child. Should I try to have another child?
The majority of FOXG1 mutations are de novo, which means it was a spontaneous mutation during the pregnancy, there is no genetic reason, and there is usually a 0.01% chance of re-occurrence. In our group, there are four to five families that have either gonadal mosaicism or an actual genetic carrier of the mutation. If someone is a carrier, the mutation does not affect the carrier, but it is passed on to the child, and they have a roughly one in four chance of having a child with a mutation. Gonadal mosaicism is when the parents are NOT carriers, however, in reproductive organs some of the eggs and sperm contain the mutation, resulting in a child with a FOXG1 mutation.
Is there any impact on the life expectancy? How old is the oldest person with a FOXG1 mutation?
The oldest person with a FOXG1 mutation that we know of is 29. As FOXG1 is a neurological disorder, it is inherently life limiting. As there are so few adults diagnosed, we do not have a known life expectancy. FOXG1 itself is not life threatening, but the complications that come from the symptoms (seizures, lung complications due to illnesses, etc) can, in some cases, be problematic.
How many people are there with a FOXG1 mutation?
We currently have around 260 individuals with a FOXG1 mutation worldwide associated with the foundation, and our numbers grow weekly.
What are the most common medical conditions that our fox children have?
See our Signs and Symptoms list for more information.
What is the next step after a diagnosis?
Breathe. Chances are, you’re already doing occupational, speech, and physical therapy. Some other options are doing physical therapy in a pool, vision therapy, hippotherapy (therapeutic horseback riding). Get a good group of doctors in your corner. The goal is to get your child as medically stable as possible and create a preventative maintenance plan to keep them there.
What specialists do I need to see?
The host of doctors/specialists our community might have on their teams include: neurologists, ophthalmologist, Vision Specialist (one that understand CVI - Cortical Vision Impairment), gastroenterologist, pulmonologist, developmental pediatrician (if you can find one that focus on special needs) or an adult medicine primary care doctor for those over 18, movement disorder neurologist, sleep specialist, an ear, nose and throat (also called ENT), orthopedic, physiatrist, nutritionist, special needs dentist, and others.
Will my child be able to walk, talk, speak, etc.?
Every child is different. There are many different mutations that come with different symptoms. Also, where the mutation is within the gene code makes a big difference. Our kids run the gamut, some can walk and talk and others are unable to take care of their basic needs and require full care. We do know, however that here is a smart person in there that understands a whole lot, and with hard work they can make progress.
If you have any reason to suspect seizure activity, consult your primary physician or neurologist promptly. The vast majority of individuals with a FOXG1 mutation experience seizures at some point. There are many types of seizures, and they can present with or without the same symptoms as someone else. The Mayo clinic has some great information, take a look here.
Do not attempt to self-diagnose your child. Please contact your primary care or neurologist if you suspect seizure activity.
Why don't epileptic seizures always show up on an EEG in a child with FOXG1?
It isn’t uncommon for FOXG1 kids under three years of age to have normal EEG’s even though they are having seizures. There is such a thing as brainstem seizures, and they do not show up on EEGs. There are also some movement disorders that can also mimic seizures.
What medication are FOXG1 kids on?
Please, always consult a medical professional regarding medications. Many individuals with a FOXG1 mutation are on medication for: seizures, reflux, movement disorders, asthma, allergies, drooling, delayed gastric emptying, muscle spasms, constipation, etc.
Sleep issues: Is there anything I can do?
Unfortunately, some of the most prevalent symptoms of FOXG1 are inconsolable crying for the first 18-24 months of life, and sleep disturbances. The crying seems to be a sensory processing disorder. Talk to your OT about therapeutic brushing, a technique used to minimize sensory input. As for the sleeping issues, some parents have found a weighted blanket works well. When purchasing a weighted blanket, note that there is a ratio for the weight of the blanket to size of child.
Other parents have reported some success with various supplements and medications such as melatonin and ferrous sulfate (dr. prescribed). It is a good idea to find a good sleep neurologist and schedule a sleep study.
Make sure you consult your doctor before trying any medications or supplements.
Constipation is a messy topic among FOXG1 families. It is very common, as it seems the low muscle tone extends into the smooth muscles (these are the muscles that are controlled by the autonomic system, the system that regulates all your involuntary functions, like blinking, breathing, temperature control, and also digestion) in the digestive tract, causing constipation, slow gastric emptying, etc. Consult your doctor about a fiber rich diet and/or medication to help bowel emptying.
Behavior: Why is my child biting, scratching, pinching, hitting, hair pulling, etc?
Sensory Processing Disorder is common among the FOXG1 community. Many times, the repetitive behavior you see your child doing is a self-soothing or sensory input need. Many exhibit a “handwashing” motion, where they constantly rub their hands, or mouth their fingers. They may bite because they have no oral stimulation, and when they teethe it’s an instinct to want to chew on something to help teeth break through. Through trial and error, you can sometimes find alternative, non-harmful ways for them to “stim” (stimulate) whatever it is they need the input for. Check out Chewlery for example.
One of the characteristics of FOXG1 is Cortical Visual Impairment (CVI). Unlike low vision, CVI is a neurological condition affecting the eyes - the structure of the eyes is fine, but there is an issue with the way the brain receive and processes the input from the eyes. It is very beneficial to your child to treat them for CVI and not just low vision. We have seen many cases where by using the right therapy methods, the child’s CVI has improved dramatically. The leading expert in CVI is Dr. Christine Roman-Lantzy. This website is a great resource for understanding CVI.
Most children with FOXG1 wear glasses and might be considered legally blind due to their vision limitations. If your state or county has a Commission for the Blind program, you might qualify for funding for glasses and vision therapy tools.
What research efforts are underway including drug trials?
Currently, there are no drug trials, but that is precisely the goal of the International FOXG1 Foundation. Please see our Research page for more info on our research path.
As scary as a tube sounds, it’s a beautiful thing for many families.
There are several kinds of feeding tubes:
- A ng tube, (ng comes from Nasal-Gastric, meaning nose and stomach) which is often temporary and is inserted through the nostril.
- A g-tube (the G comes from Gastric, meaning stomach), is placed in the stomach to bypass the mouth and esophagus.
- A g-j tube (G comes from gastric, meaning stomach, and J from jejunum, which is a part of the small intestine) meaning it is placed in the stomach and jejunum, one port accesses the stomach and the other the jejunum. If there’s something that the stomach cannot tolerate, then just a j-tube is placed, directly into the jejunum, to bypass the stomach.
There are various reasons for the different tubes, and you should discuss those reasons with your doctor.
More on G-Tubes:
G-tubes are the most common feeding tubes amongst those with FOXG1. A g-tube is typically placed with a short procedure, where a scope with a lit tip is threaded down the esophagus. Once it is in the stomach, the surgeon can see the light shining through the skin and make an incision at that site to place the tube or button access. There are other ways to do this procedure, and it is ultimately up to the surgeon. Some patients stay overnight, some leave the same day - it depends on recovery and pain control. Having a tube does not mean your child cannot eat. As long as it is medically safe for your child to do so they may eat and the tube can be used for extra calories, medication administration, and hydration. The tube is there to help your child remain stable and healthy, and it’s a great way to maintain fluids when your child is sick. Many parents often hold off as long as possible, but the one thing we hear over and over is ”why didn’t we do this sooner?!” as it often has a significantly positive effect on the whole family. For more information, check out Feeding Tube Awareness.
Puberty: Hormones, hair, and height, oh my!
Puberty is one of the things that does follow the typical curve, although there have been a few cases of precocious puberty (when puberty starts significantly earlier than normal) and is something your doctor can watch for. You will see things that most parents don’t, and you will get used to them; that is a topic discussed in our support group in more detail. Seizures can sometimes increase as the hormones wreak havoc in the body, and they may also change in type, frequency, and severity. Your child’s neurologist will be aware of this and will work to bring them back under control.
What is going on with my child’s jerky movements?
Many individuals with a FOXG1 mutation have something called dystonia, which is involuntary muscle contractions causing repetitive movements and abnormal posturing. Sometimes these movements can be mistaken as seizures as the contractures can mimic seizure movements. Treatments are available to help manage the symptoms, including medications, and you can consult a physical medicine specialist, sometimes called a physiatrist.
Is acid reflux common?
Very. Again, it has to do with the low muscle tone affecting the sphincters, which are valves that open and close to form a one-way road down into the esophagus and stomach. They do not have the muscle tone needed to keep them closed, which allows stomach contents to flow backup into the esophagus. A gastroenterologist can help you manage this symptom. The doctor may order various tests to determine if the reflux is causing aspiration, (when the reflux is coming so far up the esophagus the individual is at risk for breathing it into the lungs), which can cause an infection. This is one of the reasons for potential g-tube placement, and occasionally the physician may recommend a fundoplication, a procedure that involves taking where the esophagus meets the stomach and maneuvering it to block the reflux from happening. A g-tube is also placed as a fundoplication can inhibit the ability for the individual to vomit and relieve gas through burping, and the g-tube will allow for venting to remove the air bubbles.
My child is going to school and I have to do an IEP/504 Plan. Where can I go for information?
In March, 2017, the US Supreme Court ruled what amounted to a huge victory for Special Education in the United States. In the Endrew F. vs. Douglas County School District Case, the Supreme Court ruled that schools are required to “do more than provide a merely de minimis” (minimal) education, they must provide the opportunity for an “appropriately ambitious” education in line with federal education laws. For more information, take a look at this article.
Here is a linkto the Federal IDEA law that governs Special Education. This is the minimum that all states have to follow, although some states can and do require more than just the federal minimums.
Here’s some info on Special Education Laws.
What kind of impact will living with this disorder have on the sibling/s of my FOXG1 child?
The sibling of an individual with a FOXG1 mutation is going to face their own set of challenges. Having a brother or sister that requires so much attention can make it difficult to give them the attention they deserve and need. They are also often aware of the frailty of life much sooner as they see their parents worry about seizures, vomiting, aspiration, ER visits, surgeries, and they often become “parentized.” This means they take on the role of caring for their sibling as though they are the sibling’s parent rather than a brother/sister relationship. This, in turn, brings on a heightened anxiety regarding their sibling’s health. Your pediatrician should be a great source of information on treating anxiety, including healthy ways to cope and breathing techniques. Your pediatrician may also refer you to a child psychologist.
One easy way to help your own non-FOXG1 child is to set aside time just for them after your FOXG1 child is in bed, even if it’s assembling legos, reading a book together, watching a show, playing a game, or maybe a lunch date once in awhile. It doesn’t have to be anything grand, they just want your attention. Also, try to avoid telling them plans ahead of time so they’re not disappointed if they’re cancelled due to your FOX child’s needs.
On the plus side, there is rarely sibling rivalry! If anything, these kids become an advocate for their brother or sister at a very early age. They are often highly compassionate people, with empathy beyond that of their peers. As hard as it is, remember to give them time to be a child, and help them understand that they are not responsible for their sibling’s well-being.
What does all this mean for my relationship with my partner?
Everyone says “make sure to take some time for the two of you!” This is easier said than done, right? By the time the day ends, we’re usually too exhausted to even contemplate carving out time for the relationship. In many cases, all your conversations revolve around managing schedules, whether it be work, appointments, and school.
We get it, but we’re going to say - try. Nurturing your relationship is a critical piece in surviving this topsy turvy life. You don’t have to go out, just taking a walk, watching a favorite show, playing a game, etc. can make a big difference in maintaining your couplehood.
How in the world am I going to handle this?
That might be one of the first thoughts most of us FOXG1 parents have. You’re not alone. Being a special needs parent can feel very lonely at times. Of course we all have a different experience and different situations. The Facebook Parent Support Group and the Facebook Family and Friends Group, has proven to be incredibly comforting.
The best advice we can give is to take care of yourself, first, as much as you can. When you feel good, and you’re happy, you are more able to handle the challenges in life. When you feel good, it’s easier to be the best parent you can be.
This is your life. Don’t give that up because you feel that you only have time to care for others.
Try your hardest to take the time to do what you love. Sometimes just going for a 20 minute walk can do a world of wonder. Don’t forget to find and do the things that light you up inside, whatever it is. Do you love music? Find a way to see some live music. Go dancing. Cook your favorite foods. Get together with the people who remind you of who you are.
Many parents find joy in writing their story. Start a blog. Chronicle your journey.
We can go on and on and turn this FAQ to a self-help blog, but you get the point. Ask yourself every day if you’re doing something that makes you happy.
Stay healthy. Try your best to think of all that you are grateful for each day (it’s a key to happiness). And when you want to cry and punch the couch, do that too.
Get someone to help with kids:
Find someone you trust and train them to care of your kids, someone who will be invested in their care. If your child is school-age, ask the school staff, even the school nurse, or family for help - or help finding help. The key is to find someone you trust implicitly to have your child’s best interests at heart- skills can be trained, attitude and investment can’t.
You may have a Care at Home program through Medicaid that will assist you with nurse care. You may qualify for financial assistance for non-nurse help.
Water! A shared love
The majority of individuals with a FOXG1 mutation have an incredible love of water! Whether it’s a bath, shower, pool or rain drops on the car window, if it’s wet, it brings splashing and shrieking. We figure there’s something about the sound, and the ability to move their bodies freely that makes it so much fun. They also have an obsession with all things stringy - cords, tubes, wires - you name it, they’ll yank it- including trying to yank their extension tubes out with the g-tube button attached!
Music is the universal healer and it seems to pacify almost all of the individuals with a FOXG1 mutation. We are guessing it has something to do with their heightened auditory (hearing) senses, since most of our children have Cortical Visual Impairment. Either way, it’s beautiful, the smiles and giggles we are blessed with from their favorite things.