The Filter

(I originally wrote this article for the Navigate Life Texas website in 2018. Sharing here because it’s still very important when making our friends and family aware of how HADDS affects our daily lives.)

Does your family have to utilize “The Filter”? I know mine does. My family uses The Filter multiple times every single day. I would not be exaggerating if I said that it is always in use at our house. Living with HADDS makes using the filter necessary.

Every decision we make must first go through The Filter.

We get an invitation to an event. We send it immediately through The Filter:

  • How accessible is the location?
  • Is there a place for a quick break or escape if my child gets overwhelmed?
  • Is the event indoors or outdoors…if outdoors, will the weather be doable for my child?
  • Who will be attending the event—those who understand my child and his/her responses, or those who might judge her/him?
  • Is there a space for personal care/feeding of my child?

There are some errands I need to run, but my child will need to be in tow. Run it through The Filter:

  • How are they feeling today? What is their mood?
  • Is there something we need to save energy for, or can I drag them along on these errands?
  • Can they do these errands and still have the energy to finish up the day?
  • Do we have the supplies/equipment that we will need during the errands?

The Filter helps our family decide whether or not something is a possibility. Not every family needs The Filter. Many families can pick up and go anytime, but our family has some disabilities and needs to consider each and every time we leave the house. The Filter helps us weigh the pros and cons and recognize the risks—there are always risks.

The Filter becomes second nature to a family who uses it often. No decision is made without using it. No plans are secured, no restaurant is chosen without exploring it through The Filter.

The Filter may seem like it limits my family. The reality is, The Filter protects my family and my child. Using it helps us make wise choices. It protects my child’s dignity. It helps prioritize events and duties in such a way that my family can participate in the things that matter but say no to things that would prove to be too much for my child.

Friends of my family learn that we often need to be tentative for plans. True friends know that we will do what we can but that we will also say “no” when we need to. Good friends know that if I hesitate at the mention of an invitation, I’m just sending the information through The Filter, and we will participate if possible.

Lunch on Saturday, you ask? Wait just a minute while I send it through The Filter.

Eye Surgeries

One of the most common characteristics of a person/ child with EBF3-related HADDS is strabismus. Strabisimus is commonly called crossed eye or lazy eye, but it just means that the person’s eyes don’t look in the same direction at the same time. One or both eyes may turn in or out more than it should because of poor eye muscle control. In HADDS it makes sense that the eye muscles would be weak or poorly coordinated since Hypotonia throughout the body is quite common.

Ophthalmologists measure the distance the eye(s) drift and determine if the strabismus is getting better or worse. Strabismus is sometimes worse when the person is tired, or looking at things at a distance, or not wearing their glasses.

The risk of not correcting strabismus is that the brain will actually eventually “turn off” the weaker eye if not brought into alignment. The brain will stop receiving input from the weaker eye and will lose all muscle control of focusing and using that eye. When the eyes are properly aligned (looking the same direction at the same time), the brain can use input from both eyes the way they were intended.

A common treatment for strabismus is wearing an eye patch over the stronger, straighter eye. Patching the stronger eye forces the weaker eye to work and will in theory strengthen that eye. You can purchase one-time use sticky patches to stick over the stronger eye, or you can purchase a cloth patch to slide over the frame of the glasses. Sometimes patching is all the treatment needed to correct strabismus. Similar to patching, sometimes the ophthalmologist will recommend a stronger-than-needed lens for the weaker eye to encourage the brain to use that eye; other times the lens of the stronger eye can be clouded or otherwise hindered to encourage the use of the weaker eye. Sometimes, however, surgery is needed to correct stabismus.

Chloe has really bad eyesight and had strabismus. She wore an eye patch for years. She wore a clouded lens over her strong eye for a while, and she wore a stronger-than-needed prescription lens over her weaker eye for a time. Chloe has also had 3 surgeries in both eyes to correct her strabismus. She was 1 year old at the time of her first eye surgery and maybe 6 or 7 at the time of her last eye surgery. Under general anesthesia, the doctor either tightens or loosens the muscles of the eye(s) affected. Unfortunately, surgeons never know how the eye muscles/ brain will respond so it sometimes takes a couple of tries to get the eyes straight. Sometimes the doctor over-corrects the muscle in hopes that the muscle will respond and relax enough to bring the eye into alignment. It takes a while to see the end result of strabismus surgery so don’t be discouraged if at first the eyes still don’t look straight.

Thankfully with proper treatment strabismus can be corrected and improved.

Urology Issues

The list of common symptoms/traits with HADDS is not a short one. But a very common one involves the urological system. Some individuals have double ureters, kidney reflux (Vesicoureteral reflux) into one or both kidneys, neurogenic bladder, trouble emptying bladder, incontinence, frequent UTIs (urinary tract infections), hydronephrosis, lack of sensation of need to urinate, genitalia abnormalities, and others. It is recommended that individuals with HADDS get a renal ultrasound annually to rule out any issues or damage to the kidneys. It is imperative to take good care of the kidneys.

Chloe, like many others, was born with urological issues caused by EBF3 HADDS. She had her first UTI at just 3 weeks of age and spent a few days in the hospital. She got another UTI at 6 weeks of age and was hospitalized again. That’s when the doctors began to discover some details about her urinary system. It turns out that Chloe was born with only one kidney; her right kidney never formed (dysplastic kidney). She had a neurogenic bladder (bladder doesn’t work for some neurological reason), and she had severe bilateral Vesicoureteral reflux which was resulting in recurring UTIs. She was then prescribed a daily antibiotic to prevent infections. She continued on that daily prophylactic antibiotic for years.

Then when Chloe was 4 months old she had another UTI and extremely low sodium levels were detected in a blood draw. It was during this hospital stay that the doctors gave us the choice of either using a catheter to empty her bladder every 3 hours or doing a surgery that would keep her bladder drained. At the time we were busy caring for Chloe and all of her health needs and those of her brother who is 7 months older than her, not to mention caring for our healthy 2 year old. (Sounds like a lot!! Lol) We opted for the surgery; so at 4 months of age, Chloe got a cutaneous vesicostomy that remains one of the best decisions we’ve ever made for her!

Chloe, at age 19 years, continues to get an ultrasound of her kidneys and bladder at least annually. And her vesicostomy has been dilated (surgically enlarged) once and continues to work beautifully and keep her infection free!

That Smile

A very common and early trait of HADDS is the inability of the facial muscles to smile. Even if the person is happy and even if the person’s eyes are smiling, the face doesn’t turn up into a smile.

It seems to start first as simply the lack of a smile in the baby. The baby may be described as serious or stoic. Later it progresses into a type of grimace when happy, as the muscles struggle to attempt a smile. And many times as the person with HADDS ages and matures, he/she learns to use some of his/her facial muscles to create a fabricated smile. Chloe used to sit in front of the mirror for hours teaching herself to smile.

While some individuals with HADDS have a natural smile from the beginning, the lack of a natural smile is a very common trait and one of the telltale signs of HADDS.

HADDS Awareness

This month marks the 2nd annual HADDS Awareness month. Since HADDS is a recently discovered rare syndrome, awareness is still vital. And February is set aside for this purpose. Most people still have never heard of HADDS or of the EBF3 gene. We, as loved ones, have our work cut our for us to make the world aware and to prepare the world for our kiddos/ loved ones. And it’s easiest to start with our family, friends, doctors, teachers, and therapists.

And this month you’re encouraged to ask questions, research, and talk about all things HADDS. You can wear HADDS plaid (black watch plaid), grab a HADDS ribbon or t-shirt, or better yet just chat with a person diagnosed with HADDS. Beyond that, and most importantly, you are encouraged to always be kind and patient and slow down a little bit to connect with someone who may not connect in the ways you expect. And watch, and learn, and be a friend.

If you or your family/friends are not familiar with the foundation created 2 years ago to promote awareness, support, and research, check it out at Hadds.org. Also ask your friends to join our public facebook page at https://www.facebook.com/groups/hadds.

Watch for some HADDS Awareness posts coming this month. 🙂

All the Things

Scheduled 6 doctor appointments and an ultrasound. Stopped by the pharmacy to pick up some prescriptions. Requested a refill on another medication while I was there. Is this one the new doubled dose that the doctor prescribed? Why did insurance not cover this one? Checked the details. Sent messages to 2 different doctors following up on a current health issue. Browsed Amazon for the best supplies to treat and protect her wound. While there, ordered some other supplies for a chronic health issue, hoping maybe this slight change will make care a bit easier. Finally remembered to order those perfect little skinny plastic IKEA straws that my sister-in-law introduced me to. They help Chloe drink without choking and aspirating her Pediasure, and I only have a few of them left. Ordered 2 huge packs just in case they quit making them. Refilled the hand sanitizer bottles in the car. Grabbed 2 clean masks for the day. Returned supplies to the school occupational therapist that didn’t work for us. Wrote the same therapist a thank you note for the ones that did work. Sent Chloe’s communication device and extra bolster for positioning in her wheelchair to school. Switched out her school glasses with a different pair so I can hopefully get the school glasses adjusted since they aren’t staying on her face. Grabbed a clean elbow pad and sleeve to protect her pressure injury while at school. Used the new amazingly soft toothbrush I ordered last week for Chloe, hoping its softness will help her tolerate the brushing. Picked out pants that are appropriate for therapeutic horse riding which we have after school today. Also double checked that her boots are in the car for later. Gave her an extra cup of juice for a needed boost of extra hydration. Scheduled a call for later today with a specialist. All before 9AM. Getting it done. All in a day’s work. Checking a million things off the long list of daily tasks and things. Never even realized how much stress I was feeling today since today is very much like every other day with many many things to cover and think about, check on and plan for. Until I read the reply message from the doctor. And I lost it. Broke-down-crying-in-the-Sonic-parking-lot kind of lost it. The message made me feel unheard and frustrated. I wanted to scream. Chloe deserves and needs thought and consideration in her complicated plan of care. And this doctor’s reply showed zero. This role of advocate is maddening. This role of caregiver and advocate is exhausting and never-ending. I’m not asking to be relieved from it. I’m not even necessarily complaining. I just felt the need to say that even if I appear to carry this load well, sometimes the load crushes me. Just for a few moments, just for a day. Then I gather myself. I dry my tears and pull myself together. Head up, forward march. I still have much to do today, not the least of which is to make myself heard loud and clear by the doctor whose message pushed me over the edge this morning.

Abled… the HADDS book

Today’s Amazon delivery was a special one. The books we ordered finally arrived today, and I eagerly read every word and studied each picture. And I felt all the emotions!

Abled: Same but Different written by Cathleen Morita is a brand new publication, a children’s book about Chase who is diagnosed with EBF3-HADDS. The message of the book is an important one: While individuals with HADDS have different struggles and may do things a little differently than other people, the fact is that individuals with a HADDS diagnosis are really just like us. They like the same things other kids like. They see and hear the things that other kids see and hear. Chase (and other kids and adults diagnosed with EBF3-HADDS) is just like you and me.

The simple illustrations are beautiful… and oh, so Hawaii. (Chase’s family lives in Hawaii, and readers feel the Hawaiian vibe throughout the book.) I especially love that Chase is barefoot throughout the book. On the one page that he wears shoes, they are flip flops. #HawaiiVibes

You’ll definitely want to purchase this book for your family; you might want to buy this book for everyone you know. What a great lesson for other kids to learn: that kids with a diagnosis like EBF3-HADDS are really just like them!

And I’m not gonna lie, reading a book whose main character has the same diagnosis as you or your loved one is a really special feeling.

Congratulations to my friend, Cathleen Morita (Chase’s mom) on the publication of your first book. Thank you for allowing Paul and me to play a small part in it. Hugs, Shaka, and Aloha, Cathleen!

And huge thanks to Engedi Publishing and to Andy Spencer who is quite a sweet supporter to our HADDS families.

Find the book here: https://www.amazon.com/gp/product/1733041265?pf_rd_r=DQV9PZ4WNSQAZ16MBEMJ&pf_rd_p=edaba0ee-c2fe-4124-9f5d-b31d6b1bfbee

HADDS Resources

Are you looking to connect with other individuals and families with HADDS? Check some of these resources out:

HADDS.org. EBF3 HADDS Foundation is a non-profit organization created to support families and research in this new syndrome. You will find a blog, HADDS merchandise to purchase, helpful resources, and more. The organization hosts HADDS Awareness Month activities and a bi-annual family conference.

EBF3 HADDS Public Forum. This a public facebook group that anyone can join. It’s a place to connect with others who have an interest in HADDS and in how to support individuals with a HADDS diagnosis. This is a great group for families, friends, teachers, therapists, etc. Monthly Spotlights highlight individuals with HADDS. Request to join the group to be sure you don’t miss out on updates.

If you or a family member have HADDS and would like to be a part of the private facebook group for families, just click the Contact Us button so I can get you that information. We’d love to connect with you.

If you or a family member have HADDS and would like to contact the doctors who hold a monthly HADDS Clinic, just click the Contact Us button so I can get you that contact information. The more individuals with HADDS involved in the clinic and in the research group, the better for us all!

If you have other resources to share, just comment below or click the Contact Us button.

Complex Language

Most people with a HADDS diagnosis experience language delays. Usually their receptive language is much higher than their expressive language, meaning that they understand lots more than they are able to say or explain or express.

Speech and language deficits vary in HADDS, but it appears that most individuals with HADDS do acquire spoken language. In fact, many families report many gains in speech and other areas at age three (and certainly beyond). Early and frequent speech therapy sessions, as well as support in other means of communication are recommended for individuals with HADDS. Most children and teens with this diagnosis continue to benefit from therapy in the areas of language, communication, and articulation.

Chloe, like many others, experienced language delays. In fact, she is still considered mostly nonverbal today at age 18. However, people who slow down and take the time and effort to get to know her and “listen” to her can understand much of what she has to say, whether it’s spoken with her mouth or made with a simple gesture. She is able to mimic and attempt spoken language when she’s motivated, and her spoken words can be understood by a good listener given a clear context. She uses a combination of verbalizations, sign language, gestures, pictures, a communication (AAC) device, and other means to get her point across.

Chloe has much to say and makes many efforts to communicate to those willing to listen.

But oftentimes, her attempts fail and the message isn’t received or understood. What is the key to her communication being successful?

The key to Chloe’s communication being successful is a good, attentive listener. A good attentive listener “listens” with more than his/ her ears. A good attentive listener waits and takes into account the context, the surroundings, and Chloe’s perspective. A good listener pays attention to what Chloe is attending to. Chloe will often communicate through a stuffed animal or through a video she’s watching or a book she’s reading. Many times Chloe’s use of the stuffed animal or the iPad to communicate is misunderstood as her being off-task or uninterested, but in reality, it is a very deliberate effort to communicate a message. A good attentive listener will pick up on Chloe’s creative communication attempts and put words to them.

I’m often amazed at her creativity and effort when communicating with me and others. Recently when she got a new stuffed animal, she introduced the new stuffed animal to her well-loved favorite doggy, Butterscotch. She wanted to tell me that the two dogs were now friends. She crawled off to her closet, dug through her bookshelf, finally found the book she needed, flipped to the right page, scanned down to the right paragraph, pointed to the word “friend”, and then locked eyes with me to see if I understood enough to vocalize the message for her.

“Oh, the dogs are going to be good friends,” I said aloud for her.

And she nodded several times in agreement as she held the two dogs together.

That was a lot of effort and time just to say the word “friend.” But I’ve learned that it’s important for Chloe to relate to her messages on a different level other than just plain words or signs. We look at that conversation above and think it would have been so much easier to simply sign “friend” or to type the word on her communication device or iPad, but Chloe needed to relate to the word and the message by bringing in a book that she was familiar with… a book that talked about friends.

How many times have I (and others) assumed she had nothing to say or that she didn’t want to talk because she turned her back and crawled away?

I constantly marvel at the complexity and beauty of her communication.

From Floppy to Tight

The H in HADDS stands for Hypotonia. It’s a very common symptom in individuals with EBF3-related HADDS. Hypotonia is basically floppy, loose muscles.

Chloe was very hypotonic from the beginning. When we picked her little body up, her core, neck, legs, and arms were quite floppy; everything was loose. While most babies’ bodies naturally have a structure/ strength/ rigidity to them which helps them hold their bodies erect, Chloe’s muscles were like wet limp noodles all the time. She had to work extra hard (and many months) to reach milestones like holding her head up and sitting up. Through lots and lots of physical therapy, Chloe was able to gain the strength and stamina and structure in her muscles to eventually reach those important milestones (even though doctors did not think she would ever reach those milestones).

As Chloe gained strength, she taught the muscles of her body to hold and tighten to accomplish milestones and tasks, oftentimes using other muscles or positioning herself in a certain way that would make her successful. It was fascinating to watch how she compensated for her body’s weaknesses in such smart ways.

Over the years and with intensive therapies, Chloe’s hypotonia improved. However, I don’t really remember a time when her tone was normal. Instead, her body seems to have overcompensated for the hypotonia to the point that she is now hypertonic, with muscles that are tighter than they should be. And the hypertonia has led to some contractures in her knees and other joints. Her legs are unable to straighten at the knees, and she stays bent at the hips, too. This tightening resulted in a crouched gait which made walking too laborious and painful. She now receives botox every 4 months in her hip flexors and hamstrings to help combat the tightness.

We’ve talked to several other teens/adults with HADDS who have experienced similar tightening from hypotonia to hypertonia over the years. The thought is that the body begins to compensate for the hypotonia by tightening and then is unable to stop the tightening and ends up over-tightening, eventually affecting the ability to ambulate. (However, there are other teens/ adults with HADDS who have not experienced the tightening so it is not thought to be a typical progression of the syndrome.)

We will continue to combat the hypertonia with physical therapy, stretching, wearing splints and orthotics, and getting botox injections. While it is not probable that Chloe’s muscles and contractures will loosen up enough for her to gain back walking ability, the goal is to maintain her current ability to transfer independently and to stand for a few seconds.

And I have no doubt that Chloe will continue to amaze us by working hard and doing whatever she needs to do to stay strong.

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