Thursday, May 30, 2013

Finally: A Name - Nolan has a Diagnosis

Nolan is happy and playing again, much to my relief. He had a very tough weekend, which involved extreme bloating, an inability to eat, and vomiting. By Saturday he was so weak, he slept most of the day. Zofran did stop the vomiting for a period of time, thank goodness. I was so grateful to have the prescription!

We had his blood tests drawn on Thursday of last week, and I was grateful to get that part of the process done and over with. On Friday, the hospital lab called and stated they didn't get enough blood. Nolan was very brave and didn't cry when he had to get another poke for that last tube of blood.

I took him to the rheumatologist on Wednesday. She went over his blood work, which was mostly normal (some mild elevations or low levels, but basically normal). His AST level, which is often elevated, was normal for this round of testing.

They tested him for mutations in his MTHFR gene. What is the MTHFR gene, you may ask? The long name is methylenetetrahydrofolate reductase, because you totally wanted to know that information. In any case, there were two mutations tested. Nolan has a mutation known as A1298C (two copies of the aberrant gene). He does not have the other gene (C677T). People who have both mutant genes often have many health problems, but since Nolan only has one "off" gene, he is likely unaffected by the mutation. It is interesting information to have, but not particularly enlightening for his current subset of symptoms. If you are interested, you can read more about this particular mutation here.

The rheumatologist tested his joints and noted his soft skin and bruises on his legs. His elbows hyperextend. His knees, ankles, toes, fingers, hips, and shoulders were assessed... basically, if Nolan has a joint, it bends more than it should. 

Taking his symptoms together, a picture forms. 

Hyperextensible joints
Obstructive sleep apnea
Laryngomalacia (floppy airway)
Acid reflux
Hearing loss 
Heart murmur (mitral valve)
Severe astigmatism
Soft, velvety skin

Nolan has been diagnosed with the Classic form of Ehlers-Danlos Syndrome (EDS). 

The only symptom not covered by this diagnosis is his posterior urethral valves, which are likely not connected to his other problems (he was hit by lightening twice).

His hearing loss level is not typical for EDS. The type of hearing loss associated with EDS is often conductive and mild-moderate. Nolan's hearing loss is mixed in the low frequencies and sensorineural in the high frequencies - and the level is moderately severe to severe. His progressive hearing loss is unusual for EDS.

EDS is a connective tissue disorder - Nolan's body doesn't have properly formed collagen. Every tissue that contains collagen will be fragile and weaker than it should be. His stomach doesn't contract as it should because the tissue is weak. His eyes have an odd shape because the eyes rely on collagen to keep their shape. 

He is already developing arthritis in his ankles.

He fatigues easily because of his loose joints. Since the blood vessels are also made out of collagen, blood has a tendency to pool in Nolan's legs as he walks. This can cause dizziness and fatigue (on top of the fatigue caused by the loose joints). He can't walk as far, or as fast, as a typical child his age. If we are going somewhere that requires a lot of walking, he will require mobility assistance.

His rheumatologist is going to get his brain MRI's to look for chiari malformation again. She wants to make sure they ruled it out, since children with EDS often have chiari malformations and can have a specific type of hydrocephalus.

In the meantime, we are treating his symptoms as they arise. There is no cure for EDS, so we can only help him symptomatically. Having a diagnosis means everything, despite the lack of a "cure:"

  • Future airway surgeries are likely to be unsuccessful with this disorder. The tissues around his larynx are likely to continue to prolapse. With a diagnosis, we can avoid unnecessary surgery.
  • We know that Nolan's inability to walk and leg pain is not a behavioral problem or "growing pains," and that he is in significant pain and must receive assistance when walking.
  • He must avoid contact sports to prevent permanent damage to his joints.
  • His heart must be monitored. Some people with EDS are prone to aortic root dilation and most develop mitral valve prolapse. Nolan has a heart murmur in the location of his mitral valve, though an echocardiogram was "normal" when he was three. In light of this diagnosis, it is likely that he will have mitral valve prolapse.
  • He needs to keep his hydration levels up to help prevent fatigue. His doctor wrote a note to keep gatorade at his desk during school hours.
  • We know his gastroparesis is unlikely to improve.
  • We are to give Zofran the minute we think he might start vomiting, rather than waiting for the vomiting attack to begin.
In any case, we are glad to have a diagnosis for the little guy. We can be proactive to keep him as healthy as possible and try to limit the damage to his joints. I do wish we had this diagnosis prior to attempting the second supraglottoplasty, though!


Herding Grasshoppers said...

Wow. That's a lot to absorb. He's the same wonderful kid, but NOW YOU KNOW. You know what's behind it all (or most of it ;D)

I'm so glad Nolan has you and Dennis. Imagine if he'd been born to parents who either couldn't or just didn't pursue medical diagnosis/care/follow-up. You do SO MUCH for him - to make his life wonderful.

Praying for you all and thankful you found a doctor that put the pieces together,


dlefler said...

I am SO grateful to have an idea of what is going on. It will help with his other doctors, too - and with making decisions about surgeries, etc. Matthew probably has it, too. A milder presentation than Nolan, of course, but he has the constipation/reflux/laryngomalacia... which means there is some floppiness in both boys.

Kyla said...

I'm SO glad you guys have an answer!!! YAY!

Did the doc mention if a med like florinef might help increase blood volume and decrease symptoms of it pooling instead of going where it needs to go? I know they treat it that way with dysautonomia.

Anonymous said...

I am so glad that you finally have at least an answer, it will help you so much in getting the right treatments and care, potentially for both boys. I hope that you are doing well and that you will continue to be as great as you have been already, there isn't really anything else you can do, so keep up the good work.

EllenF said...

I am glad you have found a comprehensive diagnosis, even though it doesn't "solve" anything. Nolan is a lucky little guy to have such involved and persistent parents.

rouchi said...

One brave kid and one brave mum. Blessed to have you as a mum. God bless you all.

Marsha said...

I wrote a comment before signing in to google, so I don't know if this will be a repeat, plus I don't know what all I said.

Awesome kid.

I wonder if there are support stockings that would fit a child and not be tighter than what he would need? That might eliminate some of the symptoms he gets from the situation with his veins.

I wish you and your family all the best, and even though there is no known cure, I hope he can recover some from this awful mutation.

Marsha said...

An amazing little boy. Even though there is no known cure, maybe he will prove the medical field wrong one day and rise above.

I wonder if there are support hose made for children that might help help some of the difficulty he has in his lower legs?

I wish you and your family the best.

Dy said...

Looking at a similar diagnosis for my 10 year old son. Found this post searching for answers. You are not alone and hope you are well.