Sono la mamma di un bambino che ha appena compiuto quattro anni e ha la distrofia muscolare di Duchenne, con una duplicazione degli esoni 3–7.
Oggi mio figlio fa quasi tutto: corre, sale e scende le scale senza corrimano, anche alternando i piedi. È curioso, intelligente e da qualche settimana riesce anche a saltare staccando entrambi i piedi dal pavimento. Ogni suo progresso per noi è un successo.
Stiamo facendo il possibile tra terapie, visite e appuntamenti, conciliando tutto con il lavoro. Guardandolo giocare e sorridere, in tanti momenti la malattia sembra lontana.
Io però attraverso momenti di buio profondo. Mi terrorizza il futuro e controllo ogni giorno, a volte in maniera ossessiva, le novità scientifiche, sperando di trovare qualcosa che possa cambiare le nostre prospettive. Il mio umore finisce spesso per dipendere da quello che leggo.
Vederlo così felice mi riempie d’amore, ma mi fa anche male pensare alle difficoltà che potrebbe affrontare. Sto facendo uno sforzo enorme per non lasciarmi travolgere dalla paura e dall’impotenza.
Per il momento non gli abbiamo ancora parlato esplicitamente della sua patologia. Ha quattro anni e vorrei che vivesse la sua infanzia con tutta la spensieratezza possibile. Penso che le domande arriveranno e vorrei trovare le parole adatte seguendo anche i suoi tempi.
So che altre famiglie affrontano questi discorsi fin da piccoli e, attraverso associazioni come Parent Project, frequentano anche ragazzi e adulti con Duchenne. Rispetto la loro scelta, ma io al momento non me la sento. Vorrei quindi rispettare i suoi tempi ma soprattutto la propria età.
C’è qualcuno qui che ha vissuto una situazione simile, come genitore o in prima persona? Come avete affrontato questi discorsi e a quale età? Se siete cresciuti con una malattia, cosa vi ha aiutato e cosa avreste voluto dai vostri genitori?
Vorrei ascoltare esperienze diverse e capire come accompagnarlo con sincerità, senza caricarlo.

I am currently pregnant with my second child and experiencing very very bothersome itchiness on my entire body all day long (everywhere from my toes to my ears). I am in my first tri and OB said it is impossible for this to be ICP this early on. I had the same problem with my first pregnancy and repeatedly tested my bile acids and every test came back negative. Wondering if this is a common thing for people with liver disease/ Wilson disease? My WD doctor said there’s no connection and I just have dry skin (SMH).

My father went to the doctor back in early March and the ER Doctor found a 15cm tumor on his right kidney. Tumor had thrombus extending into IVC, and showed necrosis. Tumor was biopsied and found to be a Hybrid Chromophobe tumor. Left kidney has multiple indolent typical BHD tumors.

He gets radical nephrectomy done on his right kidney in May, and about two months after they find his liver is covered in tumors. The tumors then proceeded to quadruple in size (1.3cm-4.5cm) in 28 days.

Liver tumor is biopsied and found to be Hybrid Chromophobe as well.

He’s on immunotherapy and looks like he’ll get his 2nd Y-90 next month. He’s currently hospitalized with blood clots in his lungs.

His mother died in her 40’s from metastatic kidney cancer in the 80’s, but was never diagnosed with BHD.

Both my father and I also have a VUS SMARCA4 mutation, that the geneticist is interested in but says there’s no evidence to point to it contributing.

Doctor at NIH said he’s never seen a metastatic hybrid chromohobe tumor, but he always thought it was possible.

Anyway, two people in one family dead from Kidney cancer related to BHD is exceedingly rare I believe. Was interested in hearing if maybe the NIH was incorrect.

NIH isn’t flying people out anymore or really able to help. Where could I turn to for researchers that would be interested in my case? Is my case medically interesting enough for a researcher to care?

Also, does anyone have any thoughts or commentaries on my family’s history with Birt Hogg Dube? Thank you.

Edit: For context, my father is in his late 40’s.

Long story short for the last few months I've been begging doctors to get me to someone who can do something about my possible blood disorder flare. But they act like I need to be dying in the hospital with failing kidneys before they will do anything or acknowledge there is a serious issue. For some reason they act like my platelets, hematocrit, red blood cells, white blood cells, creatinine, all being way out of wack, profound fatigue to the point I sleep 14 hours at a time, extreme bruising with no trauma, brain fog, dizziness, lack of appetite. Apparently none of that is enough to get my care extradited quickly to a hematologist that knows wtf they are doing. Meanwhile my kidneys are slowly tanking, and I can hear a turbulent flow in my left ear and I'm slowly losing more and more sight in my right eye. I've contacted Alexion pharmaceuticals, I've contacted my PCP and been up there 6 times trying to get her to understand that they are playing with fire and I need a hematologist quickly. I am SO tired of doctors having zero idea wtf they are doing. Someone could be screaming in their face what's happening, blood tests could come back definitive as hell of what's going on, and they are still so clueless. WHAT DO I EVEN DO AT THIS POINT?! Supposedly she referred me to a hematologist a month and a half ago, we've talked about the fact that I haven't gotten a phone call from them, twice... So what now? I'm sorry if I sound pissy, I am just so exhausted from dealing with the medical system, I don't know why they think it's okay to play with people's lives. In case it's not clear I'm in remission for aHUS, and I very much suspect it's flaring, and I'm trying to figure out what I need to do next.