Hi Strydor, and welcome to our forum!!   I hope we can help you find some understanding and answers here.

Strydor, EDS and other vascular disorders are under suspicion as being in truth part of a wide range of mast cell disorders.   Doctors have traditionally looked at diseases and separate entities and are now beginning to look at them from a genetic/cellular level and researchers at Harvard are looking at the mast cell as the culpret for a great many diseases, especially vascular defects.  

Strydor, there is a study being done by researchers at Harvard who are studying vascular defects and masto patients.  They are taking families into this study for they feel that although the family may not show mastocytois, it doesn´t mean that the mast cell defect isn´t there.   This study is based upon my family for we found that all of my siblings and cousins have ascending aortic aneurysms, but I´m the only family member with full blown masto.  However, we´ve found indications of masto in my children and suspicion of it in one of my siblings and others who are showing asthma.   The researchers feel that the high incidence of the aortic aneurysms is due to all of us having the genetic defect on our mast cells themselves.  They are hunting down this suspicion with other families as well.  

So, what has this to do with you and your son?   Well, you say your mother has mastocytosis - proof of the genetic defect.  Your son is suspect for masto, which means he´s showing enough activity to raise a real suspicion.   I would say the suspicion is true and your doctors can speak with the Harvard doctors if they wish confirmation of this.   They can also speak with Dr. Mariana Castells for she´s aware of this study on my family and thus aware of their suspicions.  She is also going to be doing a study on children who are showing MCAS and I believe we have another member here whose son is an EDS/MCAS child.     I think that if your doctors speak with these authorities, they will have enough confirmation that they need to move ahead on diagnosis and treatment of your son.    He needs to get into treatment as quickly as possible so that it does not retard his developmental growth.   Kids are so incredibly resilient and what seems to us to be insurmountable odds ends up being just a mere ripple in their growth!  They can overcome so very much, but you need to get him on the right treatment so that those obstacles are removed and he can have a more normal life.  

If you want the contact information for these doctors, please PM me and let me know what you need and I´ll be happy to send you their contact information.


Now, as for YOU - Stryder, I know you are doing your best to hold down the fort and to keep your own emotions and fears under control.  It´s not an easy thing.  Try not to look at your son and treat him as "special".  Treat him like a regular kid and let him try to tackle the very same things any other kid would.  He´ll find out what his own limitations are but he´ll also surprise you and show how resiliant he is.  Masto is not a debilitating disease and even though EDS prsents more challenges to your son that the masto does, neither disease has to be an illness which puts your son into a bubble existance.  Your son is needing to be on the right medications and without a doubt Ketotifen is one of them - a mast cell stabilizer.  Research is showing that mast cell  stabilizers are extremely important not only in masto but also in vascular disorders and it may help to bring him the stability he needs to have a more normal lifestyle.  

So, encourage your doctors to speak with the high authorities and look at your son through a different viewpoint as that of having masto yes, but not being worried about pinning down the SM diagnosis - it may take DECADES before this diagnosis comes about for him due to how slowly the disease progresses and if he´s fortunate, he´ll grow out of his masto as so many of the children do.   So if they can just get the confirmation they need as doctors and then put him on the appropriate medication regime, he´ll gain ground quickly, I promise you!


I hope this helps!

Lisa