Diagnosis Road: Griffin's story (GDD, hypotonia, apraxia, epilepsy -- undetermined "why")

The diagnosed: Griffin, 7

Those who love, care for and laugh with him: Erin and Jad

What is the name of diagnosis? Share as much about it as you wish. 

While Griffin has global developmental delays, hypotonia, apraxia of speech and myoclonic epilepsy we don’t have an official diagnosis. His doctors consider these all to be symptoms of something, but what that something is remains a mystery even after extensive genetic testing. We did so much genetic testing that one doctor finally said: 

“Well, come back to see me in two years. Hopefully science will have progressed more by then.” 

Ugh! Not what we wanted to hear. In the next few paragraphs, the fancy definitions for each of Griffin’s diagnoses will come from Google. The rambling will come from me. J

Global developmental delay is a term used to describe a generalized intellectual disability that is usually characterized by lower than average intellectual functioning along with significant limitations in at least two other areas of development. Griffin is severely delayed in all areas of development – gross motor, fine motor, speech, cognition. Griffin is 7 years old and a recent neuropsychological evaluation concluded that he is functioning at about an 18-24 month level. He is always progressing, but it’s at a snail’s pace. In the hypotonia world we say our kiddos have inchstones instead of milestones and that couldn’t be more true when it comes to Griff.

Hypotonia essentially means low (hypo) tone (tonia) as it refers to muscle tone. Hypotonia has been and continues to be the most confusing of Griffin’s diagnoses to explain. It doesn’t mean that he isn’t strong because he is VERY STRONG.  An occupational therapist once gave an analogy that has stuck with me for years. She said to envision three rubber bands – one small, one regular size and one large. The smallest one is very tight and hard to stretch -  hypertonia. The regular size rubber band stretches as you would expect – normal tone. The large rubber band is much looser and very easy to stretch – hypotonia. All three rubber bands are strong, but their flexibility/looseness varies greatly. So, individuals with hypotonia have looser muscles and they can be affected in many different ways. Hypotonia has affected Griffin in gross and fine motor development as well as feeding, speech and using the bathroom. I guess it is safe to say that is has affected him in every possible way.

Childhood apraxia of speech (CAS) is a motor speech disorder. Children with CAS have problems saying sounds, syllables, and words. This is not because of muscle weakness or paralysis. The brain has problems planning to move the body parts (e.g., lips, jaw, tongue) needed for speech. Griffin is 7 years old, has never said mama and he may never will. He can say the word more when he really tries, but that doesn’t happen very often. What I wouldn’t give for him to be able to tell me even simple things like what he wants to eat, if he’s cold, if his stomach hurts, his favorite color, what his school day was like, etc. He communicates in his own way by holding our hands and leading us to what he wants/needs and he is beginning to use a communication device that essentially functions like an iPad. My husband, Jad, and I wish more than anything that he could just talk to us because we’re so tired of guessing what’s going on with him and we’d love so much to hear the funny things we’re sure he’d say. I try to make peace with the fact that that will probably never happen, but I have to keep a little hope. I heard this in a sermon years ago and I believe it’s true so I cling to it when I feel hopeless – Our God is so big, so strong and so mighty. There’s nothing our God cannot do.

Myoclonic seizures are brief, shock-like jerks of a muscle or a group of muscles. "Myo" means muscle and "clonus" means rapidly alternating contraction and relaxation—jerking or twitching—of a muscle. Usually they don't last more than a second or two. There can be just one, but sometimes many will occur within a short time. Griffin was diagnosed with myoclonic epilepsy when he was about 4 ½ years old though I’m positive he’d been having the seizures for years. He has them all day every day – too numerous to count most days – and yet for years he wouldn’t have even one when we’d take him to the doctor. We finally wised up and recorded them. Once a doctor saw the recording, he immediately scheduled an EEG. During that first 20 minute EEG Griffin had 17 seizures and we watched the spikes in his brain activity with each one. Now, every time I see him have a seizure I visualize a zap to his brain and it breaks my heart. You’d think I’d be somewhat used to it after all this time, but I still cry every single day. We believe that unless/until we get his seizures under control his little brain just doesn’t have a chance to do what it is meant to do. Because his seizures are so frequent and uncontrollable someone must be within arms reach of him at all times to keep him safe. The only time someone isn’t with him is when he is sleeping in his special bed that he can’t get out of. Griffin’s seizures usually cluster meaning he’ll have anywhere from 2-5 at a time, on average. They only last for a few seconds and thankfully he recovers immediately. We’ve even seen him continue to eat and play through them. Amazing!!

Please tell us as much of the diagnosis story as you wish.

I had an uneventful pregnancy and Griffin was born at 40 weeks, 2 days. That was the easy part. Life got hard the minute he was born and it has stayed that way. He ingested meconium so he had to be suctioned before he could take his first breath. The first time I saw him was right after he was born and he looked dead. He lay there purple and lifeless since he wasn’t able to breathe yet. That’s the first of many disturbing images of Griff that are burned in my brain.  I wasn’t able to hold him because he had to be suctioned and then he was whisked away for observation and I didn’t see him for two hours. Not a fun way to get things going.

He had feeding issues from the very beginning. He didn’t want to eat which the hospital staff attributed to him swallowing meconium. When I could get him to eat he wouldn’t stay latched and threw up most of what he’d eaten. After more trips than I can count to the pediatrician, monitoring my milk supply, supplementing with formula and having an ultrasound we found out Griffin had severe reflux. He would throw up so much sometimes that we dubbed the incidents “super soakers.” I would have to change all of my clothes (including my undergarments) and whatever I was sitting on would also be soaked all the way to the floor. Despite all of my efforts to feed my child he wasn’t gaining weight. 

We asked the pediatrician multiple times if it he could be allergic to something I was eating and she said no. After a 24 hour hospitalization for failure to thrive and dehydration-- during which each specialist contradicted the one before them-- we found out from a nurse (thank God for her!!) that Griffin had a milk protein allergy. She ran the test 5 minutes before we were supposed to leave and that changed our whole course of action. I stopped nursing and we put Griff on hypoallergenic formula which was life changing for him. For the first time in his 12 short weeks of life he was finally being nourished. We were told to make his formula high calorie and that started, “Operation Fat Griff,” which was quite successful. He chubbed up quickly and finally started looking like a happy healthy baby.

After getting his feeding under control around 4 months old, I began noticing that he wasn’t hitting any milestones and something just felt off. I mentioned it to the pediatrician and she said he would catch up and not to worry. Something in my gut kept telling me I was right so to appease me, the pediatrician conducted an evaluation on Griff and found that he was severely delayed in his fine and gross motor development. She then referred him to the Birth To 3 program (early intervention) and he received PT, OT, Speech, Feeding and Developmental therapies until he aged out of the program. He receives some therapies at school (not nearly enough) and we still have PT, OT, Speech and Feeding each week in the home.

We left our first pediatrician, for obvious reasons, and the pediatrician who still treats Griffin to this day was the first to mention hypotonia. Once we began learning more about it, it helped us understand a lot about Griffin and why he struggled to do things that came easily to all of our friends’ children. Because of hypotonia, Griffin didn’t crawl until he was 16 months old and didn’t walk until right around his second birthday. He can run, but he still can’t jump, skip, walk down stairs, etc. He is working on those skills in private PT right now and is actually doing really well.

We knew before Griffin was born that he would have a big head, which he does. We initially didn’t think much of it because Jad and I both have huge noggins. However, because of the size of his head and his developmental delays our pediatrician referred Griffin to a neurologist when he was about 6 months old. After meeting with the neurologist, Griffin had an MRI and I will never forget the day I was called with the results. The nurse’s exact words were:

“We reviewed the MRI and the doctor thinks your son’s brain may be bleeding. You need to rush Griffin to Duke’s pediatric ER right now and have their team of specialists look at his MRI.” 

I immediately lost it, but somehow got it together enough to call Jad. Thankfully, his brain wasn’t bleeding. He had a subdural hygroma (an accumulation of cerebrospinal fluid), which the doctors believe happened during birth--it didn’t need any immediate treatment. By the time Griff had another MRI when he was 9 months old, the hygroma had reabsorbed and all was well there.

Griff eventually ended up being referred to Duke to be seen by an epileptologist, a neurologist who specializes in epilepsy. Since starting with him, Griffin has failed seven different pharmaceutical drugs. Each of them increased the types, severity and frequency of his seizures. They also took my child away from me. He was a zombie on those drugs and could barely function. Each one of them was horrific. 

We tried the ketogenic diet and considering all of the hard things we’ve dealt with in Griffin’s seven short years, Jad and I agree that the three months he was on the diet were the worst three months of his life. The diet did slow down his seizures somewhat, but he had no quality of life. He had no energy so he slept a lot which is not normal for him. He couldn’t play. He barely smiled or laughed. The diet was so restrictive that I had to even monitor the amount of water he drank in any given hour. I’ll never forget him standing at the top of the steps, looking down at me and asking, “More?” because he was starving. When I told him I couldn’t give him more he fell to the floor and cried. That’s another image I will never get out of my head. That diet went against every fiber of my being, but I was willing to try if that meant he could one day be seizure free. We decided after 3 months to go off the diet because it became a quality of life issue. He was able to eat regular food again around the holidays and Jad and I joke that we got him carbs for Christmas that year. J 

We have tried numerous natural treatments and are having some luck with the one we’re using now. Griffin also has a VNS (vagus nerve stimulator), which is an implant that acts as a pacemaker to the brain and we believe it is helping as well. Griffin’s epileptologist says that he has intractable epilepsy and that means it cannot be controlled, but we refuse to believe that.  Both the natural treatment we are using and the VNS work better over time so we’re sticking with them for now because they’re the only treatments we’ve tried that have helped and haven’t had horrible side effects.

As I’m writing this I’m realizing that I could probably write for days about the diagnosis journey so I’ll try to wrap it up. During the course of Griffin’s life he has been hospitalized three times – once for 24 hours at 12 weeks old as I mentioned previously, once for a week when he was 2 years old for severe bowel impaction and once for 5 days to implement the ketogenic diet. He has had more tests, procedures and blood draws than I can count. He has had multiple surgeries (some of the procedures were done at the same time) – ear tubes x3, adenoidectomy, strabismus, upper endoscopy, ABR, placement of the VNS. He has seen more doctors and specialists than I care to count, but thankfully we’re down to four – pediatrician, dentist, eye doctor, epileptologist.

Griffin is currently in a classroom labeled ID-Severe (Intellectually Disabled – Severe) which we don’t believe is the best placement for him for many reasons. We are currently working with the school system in hopes of making the best out of a not so great situation, but what we truly want and believe he needs we can’t make happen. There is a private special needs school in Raleigh that would be PERFECT for Griffin. I have met with the staff many times trying to figure out a way to get him there, but we just can’t afford it. The tuition is already very expensive and because of his seizures they want us to pay for an aide, which we just can’t do. We keep praying that somehow some day we’ll be able to get him there.

How does it affect your relationships?

Thankfully, going through all of this with Griffin has drawn Jad and me closer. We truly work as a team and I cannot imagine parenting Griff without him and he feels the same about me.  We’ve been married for 15 years and just when I think I can’t love him more, I watch him care for our sweet boy and I feel like my heart is going to explode. He is an AMAZING dad and husband. There is not a day that goes by that I don’t tell him that and thank God for putting him in my life.

Griffin has brought our family closer as well. I love my mother-in-law dearly, but I don’t think I’d have nearly as close of a relationship with her as I do if it hadn’t been for Griffin. She and my mom have been there with us every step of the way. Supporting us through prayer, financially, going to doctors appointments, sitting in on therapies, etc. They are a true blessing to our family. My sister Ami often thanks me for having Griffin for her.  Nobody else exists to Griffin when she walks in the door and it’s been that way for as long as I can remember. They have a special bond and it is beautiful to watch them together. It’s love and joy in their purest forms. The rest of our extended family has and continues to support us and love us well. We know from talking with other families with special needs children that we are blessed and we don’t take it for granted.

We rarely spend time with friends and there are many reasons for that. Jad and I both desire to have friendships, but neither of us put forth much effort mostly due to pure exhaustion. Several friends have admitted that they pulled away because they didn’t know what to do or say which I totally understand. When we do make plans we often have to cancel because something comes up with Griff and I hate that, but it’s just the nature of our life. Jad and I also often feel like we are living as roommates because we get so busy caring for Griffin that we are too spent to make time for each other. So, if we do get a date night we most often want to spend it together, just the two of us.

Church has definitely been affected. We attended a church we loved for a long time and Jad even served as the worship pastor there for over four years. However, during that time I felt God calling me to take Griffin to a church that had a special needs program. Our home church had a buddy system where someone would stay with Griff and keep him safe, but that was it. He mostly just walked around, ate snacks and played with toys. While that was probably fine with him I knew he was capable of more and needed more. After fighting what God was telling me for far too long, Griffin and I began attending a church with an unbelievable special needs ministry. Each Sunday Griffin is taught developmentally appropriate curriculum so he can have access to the gospel in a way he can understand. How great is that!?! During his class, Jad and I attend a class for parents and caregivers of people with special needs that is part bible study and part support group and it is exactly what we need. Jad left his position at the church almost a year ago to reenter the science world and he now attends church with us which is such a blessing. We miss our friends and the teaching at our old church, but we know we are exactly where God wants us to be at this point in our lives.

What is one of the hardest parts of living with this diagnosis?

Since Griffin doesn’t have an overall diagnosis, not knowing what to expect in the future kills me. I’m very Type A so to not be able to plan and prepare for what might come next is so hard. Not knowing also makes it hard to come to peace with his struggles. 

Will he progress? I hope so. 
Will he ever talk? It’s not looking like it, but maybe. 
Will he ever be able to live semi-independently or take care of himself as far as eating, bathing, getting dressed, etc.? I pray every day he will.

What is an unexpectedly glorious part?

Getting to see the world through his untainted view is definitely unexpectedly glorious. Griffin wakes up with a smile on his face every single day and is happy pretty much all of the time. To him, the world is a great place full of fun things to do, toys to play with and people who love him. I think that perspective is a gift that God gives people with special needs and it is precious. Griffin may never fully understand the bad in this world and for that I am so very grateful.

As I mentioned above I have a Type A personality and therefore have always had a hard time with control. I feel like I held the people and things in my life with a clinched fist of false control before I had Griffin. Through each struggle, heartbreak, sickness and diagnosis we’ve weathered with Griffin the Lord has stretched out my fingers one by one until all that was left was an open hand. I now understand that ultimately God is in control – not me. Total dependence on the Lord and a deepening of my faith are definitely two unexpectedly glorious parts.

Are there certain places you just can’t go and do you have any advice for how that can be changed? 

Sadly, we no longer go out to eat as a family, which makes me so sad. It may seem like something so small, but it was one of the very few ‘normal’ things we could do together. Griffin used to do okay, but in the last year or so he has started choking more often, which usually results in us having to gag him. He gets upset and we get upset and it would just be amplified if we were out in public. We’re praying that feeding therapy will help with this issue so we can go back to eating delicious Mexican meals together again!

When people try to comfort you, what is the least comforting thing they say (even though it may come from a good, kind place)?

Thankfully people don’t say it anymore, but when Griffin was younger they would often say, “This time next year he’ll be caught up.” Really!?! How do you know that? 

We also frequently heard things like, “He’s going to talk. I just know it.” Again, really!?! What if he doesn’t? What then? I don’t fault the people who said this. I think instead of saying these unhelpful things it would be better for people to just listen, say they’re sorry for what we’re going through and then treat us like their other friends.

What do you want others to know about parenting/living with this diagnosis?

I know everyone’s life is hard. I get that. However, life with a medically fragile child with multiple special needs is CRAZY HARD. I read that parents of children with special needs experience PTSD on the same level as combat soldiers and I believe it. (Here is an example of that PTSD and special needs parenting). Images from the toughest times with Griffin unexpectedly pop into my head all the time and I feel broken all over again. I love my son with a fierceness that I can’t explain, but I hate that every single thing in this world is hard for him. I hate that I can’t fix it for him. It breaks my heart that he may never have a friend, ride a bike, play a sport, learn to read, go to a dance, have a first kiss, fall in love or have a family of his own. I hate to see my husband stressed all the time. I hate the constant feelings of helplessness and hopelessness that he and I battle every day.

More important than the hates is the love.  I love that I see Jesus daily through Griffin and that parenting Griffin brings me to the foot of the cross regularly. What could be better than that?

"Pour out your heart like water before the face of the Lord. Lift your hands toward Him for the life of your young children."
Lamentations 2:19