Speech Delays

Most individuals diagnosed with EBF3 HADDS have speech delays and other speech issues. Thus far, it is clear that most individuals diagnosed with HADDS do eventually communicate with spoken language, while a small percentage never gain spoken language skills. Thankfully, however, there are other ways to communicate besides the spoken word.

A good number of children with HADDS make huge improvements and begin talking at ages 3-5. And across the board it seems that receptive language is considerably higher than expressive language; meaning that the child/ person with HADDS understands way more than he is able to express/ say. For this reason, it is important to avoid baby talk and over-simplifying our language when we talk with our loved one. Rich, mature speech will help lay the groundwork for language development, regardless of whether or not our loved one ever gains spoken language.

Speech therapy and early intervention are also key to language growth in children with HADDS. Speech therapy early and often seems to be the best; although there is definitely such thing as too much therapy. If all of the therapy sessions result in our child not having playdates or not being in class or not having downtime to be a kid and play, then perhaps it’s time to reevaluate if that much therapy is best for our child.

Reading to our child with HADDS is also very important for language growth. Reading aloud exposes our children to rich language and to vocabulary they would not usually hear or use. Even reading the same favorite picture book over and over and over has great value and benefit so keep reading! Keep in mind even if your child does not sit still and listen attentively, she is still getting exposed to that language so keep reading.

Lastly, using different forms of AAC (Augmentative and Alternative Communication) offers language support for children with HADDS while their spoken language is developing. Individuals benefit from using sign language, pictures (PECS), and voice output devices. While in the past it was believed that AAC use slowed spoken language development in individuals who would eventually speak, research now clearly shows that AAC use is beneficial to individuals with speech delay. Plus using AAC helps lessen frustration when the child/ person attempts to communicate Parents can seek advice from a speech therapist who is well-versed in AAC and can also do their own internet research to find many resources for their child or loved one.

Community

Chloe loves her EBF3 HADDS community. She loves to see photos and videos of the people she knows who have HADDS. She loves to hang out with her HADDS friends and calls every HADDS gathering “a party!”

It was amazing to see how quickly after her HADDS diagnosis that this community of people became important and valuable and special to her. Each time a new mom or dad or a new individual with HADDS joins our private facebook group, she loves to hear every detail that I know about them. HADDS is hers, and the community of others who share her diagnosis is hers.

Community is important to Chloe because she knows what it’s like to be alone in your diagnosis. Chloe went nearly 16 years of her life being undiagnosed. She now feels like she’s a part of a club, and she loves her fellow HADDS folks.

Recently when I told her that a couple of our HADDS friends were coming over later this month, she bounced with excitement. I said their names, she knew them, and was thrilled at the prospect of seeing her friends. Visibly moved and excited, she exclaimed: “Party!”

Yes! A HADDS party!

Let’s not ever forget how powerful it is to belong. Belonging to a group where you won’t be judged, won’t just be tolerated. But a group where you actually belong, are noticed, are listened to, and appreciated. And you know that you know that you know that you fully belong.

We are forever grateful for our HADDS community. And we hope to always “party” with them!

Why Tell?

Sometimes parents of young children wonder if they should tell their child about their diagnosis of EBF3 HADDS (or any other diagnosis for that matter). I am a strong proponent of telling them and telling them early. Chloe has always known she has a disability, and she learned the same day we did that her disability has a name.

First, I want her to know and understand and have words for why things are so hard for her. She works way harder than any of us to accomplish tasks, to reach milestones, to make it through the day, and she sees people accomplish things that she is unable to do or is still working hard to accomplish. And I cannot imagine her having to wonder why it’s so hard. Just being able to state that HADDS makes some things harder for her gives her answers and relief and understanding, not as an excuse but as a label for understanding.

Second, I want her to be able to talk about disability and her disability in a very natural way, and talking about it from an early age will help her do that. If we wait to sit her down one day and “break the news to her” that she has a disability and that we have known about it for years, that sends a message to her that it’s something to be ashamed of or something not to talk about. That sends the opposite message to her that I want to send. Children at school will naturally have questions, and when I talk openly about HADDS with Chloe, she has the words to tell people when they ask why she does/doesn’t do certain things, an important part of self-advocacy.

Third, Chloe deserves to know she has EBF3 HADDS, and she deserves to know there is a community of people with the same diagnosis that she can relate to when she wants to. She loves her friends with HADDS and enjoys gathering with them when we can. Sometimes when she’s itchy or experiencing some other symptom, we are able to say that HADDS makes her itch and that some of her friends with HADDS also itch. It’s relatable, it’s an explanation, and it gives the itch a purpose.

For these reasons, I always encourage fellow parents to talk about HADDS with their children. Talk about it matter of factly. Name it. Get a book about it. Talk about others who have the same diagnosis. Look at photos of other people with HADDS. Normalize it. Empower your child with the words and the knowledge of how to feel about and talk about their struggles and their diagnosis.

Still waiting to talk to your child about HADDS? Today would be a great day for that discussion! Reach out if you need help.

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