F508 & I148T and behavioral issues?

[p.tsetsilas]

Hi,
I'm new to this forum. Does anyone have this combination? My DS (8) has these 2 mutations, which we knew about since birth when he tested positive in his newborn screening but negative in his sweat test (I carry the F508 and my husband carries I148T). We were told that he may develop atypical CF and be infertile but he has never had a follow-up appointment as the reports were buried in his pediatrician's file. Fast forward 8 years...our DS has been to many specialists (neurologists, allergists, endocronologist, psychiatrists) for issues ranging from eyes rolling in the back of his head to anger management & anxiety to chronic snorting (sinusitis?) to small breast cyst. We currently have him undergoing a comprehensive neuropsych exam to rule out autism (this would surprise us)/ADHD/mood disorder, and the doctor asked to see all his medical records. After visiting his pediatrician and reviewing them (none of which I had seen) I realize the common threads in his history: low energy, mood swings/angry outbursts that are not age appropriate, periodic asthma, allergies/snorting. So, here's my leap: could these issues be related to his CF genes? Respiratory issues could cause the snorting/sinusitis/shortness of breath and poor liver functioning/endocrine problems could lead to mood swings and fatigue. We've been going down the path of his problems being more psychiatric in nature but now I'm wondering if there's an underlying medical issue. Any help?

 

[Melissa75]

Things like low thyroid can cause depression and memory problems. There is always the possibility that untreated CF (respiratory infections, nutritional deficits) are disrupting your son's general functioning. However, there are so many kids with ADHD, sensory integration disorders etc. who don't have CF. And more salient, so many kids with CF who don't have these things. I think the likely situation is two independent conditions.

BUT i believe you should have full bloodwork in addition to the neuropysch eval AND take your son to a CF center to find out if his respiratory system and digestive system are affected by his genetics.

 

[jshet]

Have they suggested a sleep study? That could explain the low energy, outbursts, ADHD, all the behavior issues, snorting, and shortness of breath. Many times kids are disgnoised ADHD, and actually have a sleep disorder. Had he had his tonsils/adnoids removed? If these are enlarged, they can obstruct his breathing while he sleeps, leaving him chronically exhausted, causing most of these issues.
my son does have CF, autism, ADHD, and will be undergoing a sleep study soon to hopefully explain some new issues he is experiencing. His CF and autism are 2 seperate things that he deals with. They do not cross over into each other. As far as autism, believe me, you would know by now as a parent if your 8 year old was on the spectrum. Moms just know these things.
goid luck, i hope you get some answers soon.

 

[Printer]

Depending upon, where in NH that you live, I would suggest that you make an appointment at your nearest Approved Cystic Fibrosis Clinic and see a CF Specialist. Boston Children's Hospital or Dartmouth Medical Center in Lebanon NH are both Approved CF Centers with CF Specialists.

Eight years is past too long to see a CF Specialist. Yes, some, if not all, of his issues could be CF related.

Bill

 

[p.tsetsilas]

Thank you for taking the time to respond. We are continuing w/ neuropsych testing while also going down the path of CF follow-up. His appointment is scheduled later this month. Will let you know if their is any relationship w/ his CF gene mutations in case it helps others.

 

[RobinB29]

Celiac disease affects the same genetic population as CF and can cause all the issues you are discussing. When I got diagnosed I was having major mood swings, thyroid was messed up, I had migraines, joint aches, depression, fits of rage. Then after endoscopy and going gluten free- I got my life back.

 

[p.tsetsilas]

Interesting. Thanks for the input. What other celiac symptoms did you have...stomach cramps, etc? Was your thyroid ever tested, or did you go right to endoscopy?

 

[p.tsetsilas]

My son had his CF appointment today. Doctor wants to consult with colleagues and his neuropsych but thinks his mood swings could be related to low DHA (fatty acids) levels common with CF. Additionally, she reported that she has seen a higher incidence of neurological issues in CF carriers than in non-CF carries. I share this in case anyone is following, and is looking for answers like we are.

 

[Ratatosk]

A friend of mine's daughter wcf has sinus issues and after her daughter's first sinus surgery, she indicated she had a completely different child because she was able to eat and sleep. Sleep disruptions caused her to be short tempered, short attention span -- had trouble concentrating on school work. After the surgery, she was much calmer, more awake, able to focus.

 

[sanfloraine]

A friend of mine's daughter wcf has sinus issues and after her daughter's first sinus surgery, she indicated she had a completely different child because she was able to eat and sleep. Sleep disruptions caused her to be short tempered, short attention span -- had trouble concentrating on school work. After the surgery, she was much calmer, more awake, able to focus.

That thread interests me... My son is not officially CF but he is PI and has had 2 sinusitis so far. He is also kind of diagnosed ADHD by his pre-school (same things: full of energy, hard to focus, short attention spam) - they're not medical persons and recommended we take him to get tested for that (I currently have no interest in testing him). He seems to be sleeping well and does not wake up at night but has had black marks under his eyes for all his life (he is 4). I am wondering what sinus issues your friend's daughter had and what type of surgery did they do? Thanks.