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.

HADDS Family Conference – Arriving

I couldn’t believe it, but it was time to load the car and drive to Houston, TX, for the first ever HADDS Family Conference. So many months of planning and work were coming to a close, and the conference would be officially starting tomorrow.

Remembering over a year ago when Ashley and I first officially talked about a conference… the conversations, the plans, the details… the others who had stepped up to help. And, now, today, families from all over the United States were beginning their journeys to Houston. Twenty families with the same purpose… to learn, to connect, to know more, and to go deeper.

Our family arrived at the hotel, and we waited in the lobby. Soon, a family arrived from Utah. We recognized them and greeted them. What an exciting privilege: seeing and hugging this friend whom we had only known from afar (because of this blog and facebook). It was surreal.

Next, a family from California. How was it that we felt instantly connected when we met here in the hotel lobby? Hugs and laughter and instant connection. We all had the desire to just stare at each other and tell a multitude of stories to which we could all intimately relate.

A family from Toledo, Ohio, arrived next — another family I knew through email, but here we were face-to-face and arm-in-arm for the first time. A family from Maine was next. Instant friends. Instant family.

Then families from Grand Prairie, TX and Tyler, TX. We were already good friends with these families since they live so close to us. But being together with them with these other families was so sweet. It was like a reunion, like a coming home. Already the emotions were strong. The love and connection and relief were palpable. We were together at last.

The power and emotion of these first moments took me by surprise. Wow, these next few days were going to be monumental. How had I not prepared myself for the emotion of these moments?

Our EBF3 HADDS families were pouring in from across the country and Canada. Other international families were messaging and excited to watch the live streaming the next day. The day had arrived, and we were privileged enough to be here to experience it firsthand.

 

Local Gatherings

Since connecting with other HADDS families has been so exciting and meaningful to our family, I would like to encourage other families to reach out and plan small gatherings as we have done over the last year.

The easiest and most common way to connect with families so far is here on the blog and in the private Facebook group for parents and individuals with a HADDS diagnosis. (If you are the parent of someone/ or an individual with HADDS and want information on the private group, use the Contact Us page to send me a message, and I’ll send you the link.) From the private Facebook group, I found the people who were closest geographically to my home and reached out to them.

In our case, we had a casual gathering in my home. We shared a meal; we talked; the children played. It was easy and perfect. It was a great way for us to connect together.

Other times, we have gathered at a restaurant. A restaurant isn’t quite as easy or intimate as a person’s home, but it definitely works.

For others, there may not be families in close enough proximity for it to make sense to gather at someone’s home. It might make more sense to meet at a central location that everyone drives to —  a coffee shop, restaurant, or park, for example.

Feel free to request membership in our private Facebook group and get to planning a gathering of families near(ish) you. I’d love to help you with the details. Connecting online with families is powerful and encouraging, but meeting face-to-face with those families truly is amazing.

Research!

Did you know there is research specific to EBF3-related HADDS going on in the genetics sector right now? It’s fascinating! And we can be a part of it!

I was looking around on a couple of genetics / rare disease websites today searching up HADDS and EBF3 as I sometimes do. (Anyone else do this in their spare time?) And I saw an article that I don’t remember seeing before. Admittedly, much of the science and detail was way over my head. But it was still fascinating to read! Researchers are using what they now know about the EBF3 gene in research about the specifics of HADD syndrome but also how the ins and outs of the function of the EBF3 gene may affect people in the general population.

The article I was reading (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223027/) describes how a group of genetic scientists manipulated the structure of genes and studied how the structure affects its function and appearance. It was mind-blowing. And, again, there was a lot that I didn’t understand. But the part that stood out to me was the fact that these scientists were using my child’s gene mutation in some of their studies. MY CHILD, literally. And some of your children’s gene mutations were being used in the study. They, of course, don’t mention us by name (and they don’t know our names), but the article tells the specific mutations that they were using, and those mutations were borrowed from the database that so many of our children’s genetic reports are housed in. That’s exciting! (Disclaimer: Don’t panic… your child’s genetic information is only housed in the database if you consented for it to be there.)

So while we are going on with life as usual, without us even knowing, scientists around the world are studying EBF3 and using our / our children’s specific gene mutations to further science and improve medical outcomes! Talk about contributing to society!

And YOU can be a part of that process! If you have a diagnosis of EBF3-HADDS or have a child or loved one with the diagnosis, you can be a part of the ongoing and exciting research study that is currently happening. If you are interested and haven’t already sent in the consent form to participate in the research study, please comment below or email us at the Contact Us page of this blog. We can connect you with the doctors and give you more information about the EBF3-related HADDS research study and how you can participate.

These are exciting times!

Therapy

Chloe has been in therapy since she was a newborn. She has participated in physical, occupational, and speech therapies always. They have nearly always helped propel her forward in different ways. We have taken breaks from them at different times to focus on one domain or another. Other times we have been forced to take breaks when insurance has played less than nicely.

One thing I’ve noticed throughout Chloe’s life is that usually she grows and excels in just one area at a time. If she’s making strides speech-wise, then she becomes stagnant or even regresses in gross motor skills, and vice versa. But with this alternating growth, she was nearly always progressing in one area.

Chloe has also participated in special therapies at different times.

Aquatic therapy was so beneficial for her — a way to get her heart rate up without having to weight-bear, and the added gentle resistance that the water offers is fantastic exercise.

Massage therapy, depending on the therapist, is also quite beneficial to Chloe. Softening and lengthening trouble muscles and fighting against tightness and contractures has been a big help.

Hippotherapy and therapeutic horse riding has helped Chloe, too. It has helped with core strength, endurance, and following directions. Plus the horse handling skills she has mastered are astounding.

Feeding therapy was moderately successful while it lasted. However, Chloe was never able to transfer the tolerance for foods and textures to outside of the therapy setting. She was determined to succeed at what was asked of her in the therapy session but was unable to continue it elsewhere. (She still eats a strictly puréed diet.)

I count it a privilege that Chloe has been able to be in a variety of therapies and has benefitted from them all.

What therapies have you found helpful?

2019 Conference Registration

CONFERENCE UPDATE:

Registration is LIVE! Click on the link to find the registration form. Fill it out and submit it. Then, you will receive an invoice with your amount due. Once you submit payment, you are officially registered for the conference. Your conference registration is not complete until payment is submitted.

The conference is in Houston, TX July 25-27.

The agenda is as follows:
**Conference sessions all day Thursday.
**Clinic appointments, family outing, and research institute tours on Friday.
**Conference sessions on Saturday until 3 or 5PM (there are a couple of things that still aren’t confirmed at this point).
**Casual unplanned evening social times Wed, Thurs, and Fri evenings at the Hilton Medical Center lobby and/or pool area.

We have a block of rooms with a great group rate reserved at the Hilton Houston Plaza/ Medical Center. Link to reserve a room: http://www.hilton.com/en/hi/groups/personalized/H/HOUMCHF-EBF-20190724/index.jhtml?WT.mc_id=POG (Use code EBF)

https://docs.google.com/forms/d/e/1FAIpQLSdSjHlCitjtmdQYOQFf7yCPDrIKipNhSDCYmhOiIEeTX6Ybhg/viewform?usp=sf_link

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