New Here - 2 Kids Dx Dysautonomia

[jekecana]

Hi! I'm new to the boards, although I've been reading off and on for a while now. I just wanted to hop in and introduce myself before I start bombarding you with questions

We recently finalized the adoption of 2 of our children (we now have6 total). Q(4) and J(2) are biological brothers and have been with us their entire life. Both are dx with autonomic dysfunction. It's long story but I'll try to cut it short

Let's start with Q. At 3months old, he underwent surgery to repair two CHDs (vascular ring repair- double aortic arch resulting in vascular ring & PDA repair). At 4months old he began passing out. We spent the next 6months going from specialist to specialist with everyone trying to claim it wasn't their "system" that was screwing up. He wore an event monitor for 3months and we repeatedly would call in episodes- it was only later that we discovered the drs just assumed that we didn't have it on properly b/c it was showing a perfectly normal heartrate & then complete pauses & then starting back up again. It wasn't until one dr had us come down to the children's hospital to be observed over a weekend that they finally believed us. We sat in the cardiac floor room w/ our 9month old who wanted to eat the pretty finger w/ the red light (pulse ox, he got upset when I wouldn't let him and passed out. Boy did the nurses come running. His heart stopped for 7seconds that time. They put him on oral Atropine for 10months but he was still having some passing out and not always due to being upset. At 19months old, he got his pacemaker. His unofficial dx is Severe Vasovagal Syncope. He's too young for a TTT, basically they know his heart goes along fine & then pauses so they decided a pacemaker is a backup so his heart doesn't forget to restart. Since then, he's had 2more pacemaker related surgeries (lead repairs b/c he keeps breaking them! UGH!). When monitored his heartrate constantly fluctuates wildly. He can go from 90 to 80 to 60 & back up in less than a minute. So far all drs who have noticed this have just said that it's "interesting" but they don't know why he does it and dont *think* it will hurt anything. Other than the heart stuff, Q also has asthma, allergies & reflux. He also has issues sleeping (we just started melatonin) and behavior issues that we are still trying to figure out if it is a form of PTSD (hospitalized every 8times in 4years, 4 surgeries & 1bloodtransfusion) or just part of the emotional regulation issues that can come with Dysautonomia.

J is 2?. He was born at 35wks. We had a full cardiac work up on him due to his brother's issues as well as prenatal history. He had pulmonary stenosis which resolved itself. He has since had abnormal Q waves but no one seems to know why or what to do about it (if anything. This summer he began to have blue/grey episodes & during a sleep study it showed quite a few heart pauses. He wore an event monitor which captured well over 200 abnormalities (lots of too high and too low- basically his body says Heart, you need to go a little higher/lower and his heart goes A LOT higher/lower) in 30days but nothing severe enough for a pacemaker. YET. The EP just gave him a general "autonmic dysfunction" dx and told us to keep him well hydrated (the boy already drinks like crazy) & up his salt intake. We still see blue/grey episodes all the time and have started trying to do blood pressure readings at home to see if that shows anything. We also have a pulse oxymeter from pulmonary but arent' seeing destats unless sleeping. Not only do his lips turn blue/purple or blue/grey, he sometimes gets grey around mouth, completely white bottoms of his feet & grey genitals. Pulmonary feels it's not their department. In addition to the heart related stuff- J also has asthma, Severe GERD, sensory issues (seeker), hypoventilation & Obstructive Sleep Apnea.

Whew, I think that's it. Our story. Thanks for reading if you got this far! If anyone has any suggestions on the blue/grey lips on J- I'll happily take any thoughts/advice!

[MamaTrain]

Hello!

Welcome to the boards! I do beleive this is the first post I have read regarding children so young. I can not imagine what you have been through! And those poor little boys...just breaks my heart to think of little ones having to go through the horrible ordeals of dysauto! Have you looked into the childrens dysauto sites? I remember reading a story online awhile back where a Mom found out her 2 or 3 kids had familial dysauto and they were like 8 years old by that point. I wish I had more to offer but I just have no experience with such small children. God bless you MommaC and I hope you get lots of suggestion from others on here that might be more helpful. Just know you are being lifted up and I hope that brings a little comfort to your day!

KC

[jekecana]

Thank you KC! I did try a child related dysautomonia site (dyna kids) but was told it was only for the kids themselves to have support amongst themselves and was not allowed in. If you have any others to suggest, I'm more than happy to look there as well

[MamaTrain]

Does the NDRF.org ( I think that is it!) site have any suggestions? Since they are so young has any doctor suggested the familial dysauto? I dont know all the criteria of it but one thing always sticks out in my mind is something about Jewish decent being way more affected and having no tears when they cry. I am sure there is alot more to it but that's what I remember from what I have read. Maybe some of those sites would have some support groups or something since it's affecting children. Keep searching....most of us have a doctorate in Google by now if you know what I mean!

KC

[jekecana]

Thanks again! I'll keep looking.. I always seem to have the -no one sees it in kids- thing going for me. lol!

My boys are not Jewish but I did look up the familial dysauto and they have several symptoms but if the no tears thing is an absolute then it doesnt fit because they definitely have tears LOL!

Absence of overflow tears / corneal drying

Q & J -Poor suck at birth

Q & J- Drooling (both drooled for well past drooling stage)

J- Swallowing & feeding problems (Failure to Thrive for a long time)

Q&J - Hypotonia / poor muscle tone

Q& J- Short stature (bioparents are both tall, boys are both very low -10%ish for height)

Q&J- Delayed developmental milestones: motor, language, social (Q was behind developmentally but caught up. J is still behind and at 2½ doesn't speak much & is at a 12-18mo stage)

Q&J- Inappropriate temperature controls

Q & J- Wide swings in blood pressure

Q & J- Gastro-esophageal reflux (J more severe)

Frequent lung infections or pneumonias

Episodic vomiting

Q & J- Decreased or no reaction to pain and temperature (I haven't noticed the temperature thing but definitely pain is decreased reaction.)

Q & J- Excessive sweating -- OMG Yes.. They actually have major B.O. as well

Blotchy reddening of skin with excitement and/or feeding

Smooth tongue / lack of taste buds

Spinal curvature

J- Poor weight gain and growth -- FTT for a long time until we started pediasure. We are finally at an acceptable weight but it takes work.

Impaired renal function

Osteoporosis and osteopenia

Q & J- Fainting and cardiac arrhythmias -- Both have cardiac arrhytmias but Q is the only one to faint so far!

J- Sleep apnea - he' supposed to be on Cpap at 2! ugh, he doesn't tolerate it though. Q has never been tested although probably needs to be.

Q & J - Restrictive lung disease -- both have asthma?

[Rachel]

Welcome to DINET. I'm glad you found us, but I'm so sorry that you have to be here under such circumstances. It must be very hard to watch your little ones suffer as they are.

Have you looked into mitochondrial disease? Some of the symptoms you mentioned really jumped out to me as mitochondrial disease, especially considering that both boys are so severely effected from birth. Here is a list of symptoms from the United Mitochondrial Disease Foundation: Possible Symptoms. UMDF has an excellent website that you may find very helpful if you choose to explore the possibility of a mitochondrial disease.

I wish I could offer more help. My heart hurts for you and your little boys.

Blessings,

Rachel

[crowebirds]

Hi and welcome to the boards. You will find friends here. I have a daughter, now 12, who was born with DYS. Her symptoms are completely different from your children. First of all I want to thank for fostering and adopting medically fragile children. You and your spouse are a blessing to these two children. My daughter was not diagnosed until last year. The symptoms that you describe fit the Familial Dysautonomia diagnosis very well, and you may want to have the children tested genetically for this condition. Most people with this condition are of Jewish Ashkenazi decent. However, there have been some recent diagnoses of family members that have this condition that are not descendants. Lack of overflow tears is not one of the key symptoms. However, of the symptoms you describe, drooling, floppy baby, growth issues, reduced ability to feel pain and lack of taste buds are some of the key symptoms of this condition. Google "Familial Dysautonomia" and you will find a really good description as well as some discussion forums.

I hope you can find the answers that you need quickly.

Blessings,

Robin